A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Deletion of sequences of nucleic acids from the genetic material of an individual.
Actual loss of portion of a chromosome.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Recombinases that insert exogenous DNA into the host genome. Examples include proteins encoded by the POL GENE of RETROVIRIDAE and also by temperate BACTERIOPHAGES, the best known being BACTERIOPHAGE LAMBDA.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
An individual in which both alleles at a given locus are identical.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
Biochemical identification of mutational changes in a nucleotide sequence.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Any method used for determining the location of and relative distances between genes on a chromosome.
Techniques to alter a gene sequence that result in an inactivated gene, or one in which the expression can be inactivated at a chosen time during development to study the loss of function of a gene.
An individual having different alleles at one or more loci regarding a specific character.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
Those genes found in an organism which are necessary for its viability and normal function.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.
The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled. This integration occurs as a result of homologous recombination.
The functional hereditary units of FUNGI.
Proteins found in any species of bacterium.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in fungi.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.
Established cell cultures that have the potential to propagate indefinitely.
The complete gene complement contained in a set of chromosomes in a fungus.
Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
A characteristic symptom complex.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Directed modification of the gene complement of a living organism by such techniques as altering the DNA, substituting genetic material by means of a virus, transplanting whole nuclei, transplanting cell hybrids, etc.
The functional hereditary units of BACTERIA.
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
Proteins found in any species of fungus.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenic capacity of an organism is determined by its VIRULENCE FACTORS.
Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
A transferase that catalyzes the addition of aliphatic, aromatic, or heterocyclic FREE RADICALS as well as EPOXIDES and arene oxides to GLUTATHIONE. Addition takes place at the SULFUR. It also catalyzes the reduction of polyol nitrate by glutathione to polyol and nitrite.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.
A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Methods and techniques used to genetically modify cells' biosynthetic product output and develop conditions for growing the cells as BIOREACTORS.
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
Removal, via CELL DEATH, of immature lymphocytes that interact with antigens during maturation. For T-lymphocytes this occurs in the thymus and ensures that mature T-lymphocytes are self tolerant. B-lymphocytes may also undergo clonal deletion.
Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
An inhibitor of apoptosis protein that was initially identified during analysis of CHROMOSOME DELETIONS associated with SPINAL MUSCULAR ATROPHY. Naip contains a nucleotide binding oligomerization domain and a carboxy-terminal LEUCINE rich repeat.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
Transport proteins that carry specific substances in the blood or across cell membranes.
DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.
Mapping of the KARYOTYPE of a cell.
A subdiscipline of genetics which deals with the genetic mechanisms and processes of microorganisms.
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
A product of the p16 tumor suppressor gene (GENES, P16). It is also called INK4 or INK4A because it is the prototype member of the INK4 CYCLIN-DEPENDENT KINASE INHIBITORS. This protein is produced from the alpha mRNA transcript of the p16 gene. The other gene product, produced from the alternatively spliced beta transcript, is TUMOR SUPPRESSOR PROTEIN P14ARF. Both p16 gene products have tumor suppressor functions.
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
A species of halophilic archaea found in the Dead Sea.
An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.
Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.
Identification of genetic carriers for a given trait.
Proteins found in any species of virus.
Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Mice bearing mutant genes which are phenotypically expressed in the animals.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
The parts of a macromolecule that directly participate in its specific combination with another molecule.
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
The functional hereditary units of VIRUSES.
An INK4 cyclin-dependent kinase inhibitor containing four ANKYRIN-LIKE REPEATS. INK4B is often inactivated by deletions, mutations, or hypermethylation in HEMATOLOGIC NEOPLASMS.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
The genetic complement of a BACTERIA as represented in its DNA.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
Deoxyribonucleic acid that makes up the genetic material of fungi.
The sequential location of genes on a chromosome.
The entity of a developing mammal (MAMMALS), generally from the cleavage of a ZYGOTE to the end of embryonic differentiation of basic structures. For the human embryo, this represents the first two months of intrauterine development preceding the stages of the FETUS.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
A relatively rare, usually benign neoplasm originating in the chemoreceptor tissue of the CAROTID BODY; GLOMUS JUGULARE; GLOMUS TYMPANICUM; AORTIC BODIES; and the female genital tract. It consists histologically of rounded or ovoid hyperchromatic cells that tend to be grouped in an alveolus-like pattern within a scant to moderate amount of fibrous stroma and a few large thin-walled vascular channels. (From Stedman, 27th ed)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
Sets of enzymatic reactions occurring in organisms and that form biochemicals by making new covalent bonds.
Proteins prepared by recombinant DNA technology.
In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic MESSENGER RNA is under the control of an OPERATOR REGION.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
Elements of limited time intervals, contributing to particular results or situations.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
A species of rod-shaped, LACTIC ACID bacteria used in PROBIOTICS and SILAGE production.
DNA present in neoplastic tissue.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Proteins obtained from ESCHERICHIA COLI.
Protein analogs and derivatives of the Aequorea victoria green fluorescent protein that emit light (FLUORESCENCE) when excited with ULTRAVIOLET RAYS. They are used in REPORTER GENES in doing GENETIC TECHNIQUES. Numerous mutants have been made to emit other colors or be sensitive to pH.
The process of intracellular viral multiplication, consisting of the synthesis of PROTEINS; NUCLEIC ACIDS; and sometimes LIPIDS, and their assembly into a new infectious particle.
Genotypic differences observed among individuals in a population.
A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Enzymes that catalyze reversibly the formation of an epoxide or arene oxide from a glycol or aromatic diol, respectively.
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.
An enzyme that catalyzes the formation of glycerol 3-phosphate from ATP and glycerol. Dihydroxyacetone and L-glyceraldehyde can also act as acceptors; UTP and, in the case of the yeast enzyme, ITP and GTP can act as donors. It provides a way for glycerol derived from fats or glycerides to enter the glycolytic pathway. EC 2.7.1.30.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
Genes whose expression is easily detectable and therefore used to study promoter activity at many positions in a target genome. In recombinant DNA technology, these genes may be attached to a promoter region of interest.
Enzyme systems containing a single subunit and requiring only magnesium for endonucleolytic activity. The corresponding modification methylases are separate enzymes. The systems recognize specific short DNA sequences and cleave either within, or at a short specific distance from, the recognition sequence to give specific double-stranded fragments with terminal 5'-phosphates. Enzymes from different microorganisms with the same specificity are called isoschizomers. EC 3.1.21.4.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
A glycoprotein that is important in the activation of CLASSICAL COMPLEMENT PATHWAY. C4 is cleaved by the activated COMPLEMENT C1S into COMPLEMENT C4A and COMPLEMENT C4B.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)
One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.
Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.
The relationships of groups of organisms as reflected by their genetic makeup.
A species of gram-positive, asporogenous, non-pathogenic, soil bacteria that produces GLUTAMIC ACID.
Proteins that bind to RNA molecules. Included here are RIBONUCLEOPROTEINS and other proteins whose function is to bind specifically to RNA.
A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.
Deoxyribonucleic acid that makes up the genetic material of viruses.
Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
Reproductive bodies produced by fungi.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in enzyme synthesis.
Tumor suppressor genes located on human chromosome 9 in the region 9p21. This gene is either deleted or mutated in a wide range of malignancies. (From Segen, Current Med Talk, 1995) Two alternatively spliced gene products are encoded by p16: CYCLIN-DEPENDENT KINASE INHIBITOR P16 and TUMOR SUPPRESSOR PROTEIN P14ARF.
Tumor suppressor genes located on human chromosome 13 in the region 13q14 and coding for a family of phosphoproteins with molecular weights ranging from 104 kDa to 115 kDa. One copy of the wild-type Rb gene is necessary for normal retinal development. Loss or inactivation of both alleles at this locus results in retinoblastoma.

The role of RBF in the introduction of G1 regulation during Drosophila embryogenesis. (1/19725)

The first appearance of G1 during Drosophila embryogenesis, at cell cycle 17, is accompanied by the down-regulation of E2F-dependent transcription. Mutant alleles of rbf were generated and analyzed to determine the role of RBF in this process. Embryos lacking both maternal and zygotic RBF products show constitutive expression of PCNA and RNR2, two E2F-regulated genes, indicating that RBF is required for their transcriptional repression. Despite the ubiquitous expression of E2F target genes, most epidermal cells enter G1 normally. Rather than pausing in G1 until the appropriate time for cell cycle progression, many of these cells enter an ectopic S-phase. These results indicate that the repression of E2F target genes by RBF is necessary for the maintenance but not the initiation of a G1 phase. The phenotype of RBF-deficient embryos suggests that rbf has a function that is complementary to the roles of dacapo and fizzy-related in the introduction of G1 during Drosophila embryogenesis.  (+info)

Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. (2/19725)

The analysis of a number of cases of beta-globin thalassemia and hereditary persistence of fetal hemoglobin (HPFH) due to large deletions in the beta-globin locus has led to the identification of several DNA elements that have been implicated in the switch from human fetal gamma- to adult beta-globin gene expression. We have tested this hypothesis for an element that covers the minimal distance between the thalassemia and HPFH deletions and is thought to be responsible for the difference between a deletion HPFH and deltabeta-thalassemia, located 5' of the delta-globin gene. This element has been deleted from a yeast artificial chromosome (YAC) containing the complete human beta-globin locus. Analysis of this modified YAC in transgenic mice shows that early embryonic expression is unaffected, but in the fetal liver it is subject to position effects. In addition, the efficiency of transcription of the beta-globin gene is decreased, but the developmental silencing of the gamma-globin genes is unaffected by the deletion. These results show that the deleted element is involved in the activation of the beta-globin gene perhaps through the loss of a structural function required for gene activation by long-range interactions.  (+info)

Deletion of multiple immediate-early genes from herpes simplex virus reduces cytotoxicity and permits long-term gene expression in neurons. (3/19725)

Herpes simplex virus type 1 (HSV-1) has many attractive features that suggest its utility for gene transfer to neurons. However, viral cytotoxicity and transient transgene expression limit practical applications even in the absence of viral replication. Mutant viruses deleted for the immediate early (IE) gene, ICP4, an essential transcriptional transactivator, are toxic to many cell types in culture in which only the remaining IE genes are expressed. In order to test directly the toxicity of other IE gene products in neurons and develop a mutant background capable of longterm transgene expression, we generated mutants deleted for multiple IE genes in various combinations and tested their relative cytotoxicity in 9L rat gliosarcoma cells, Vero monkey kidney cells, and primary rat cortical and dorsal root neurons in culture. Viral mutants deleted simultaneously for the IE genes encoding ICP4, ICP22 and ICP27 showed substantially reduced cytotoxicity compared with viruses deleted for ICP4 alone or ICP4 in combination with either ICP22, ICP27 or ICP47. Infection of neurons in culture with these triple IE deletion mutants substantially enhanced cell survival and permitted transgene expression for over 21 days. Such mutants may prove useful for efficient gene transfer and extended transgene expression in neurons in vitro and in vivo.  (+info)

Downregulation of metallothionein-IIA expression occurs at immortalization. (4/19725)

Metallothioneins (MTs) may modulate a variety of cellular processes by regulating the activity of zinc-binding proteins. These proteins have been implicated in cell growth regulation, and their expression is abnormal in some tumors. In particular, MT-IIA is expressed 27-fold less in human colorectal tumors and tumor cell lines compared with normal tissue (Zhang et al., 1997). Here we demonstrate that MT-IIA downregulation occurs when human cells become immortal, a key event in tumorigenesis. After immortalization MT-IIA expression remains inducible but the basal activity of the MT-IIA promoter is decreased. MT-IIA downregulation at immortalization is one of the most common immortalization-related changes identified to date, suggesting that MT-IIA has a role in this process.  (+info)

p73 at chromosome 1p36.3 is lost in advanced stage neuroblastoma but its mutation is infrequent. (5/19725)

p73, a novel p53 family member, is a recently identified candidate neuroblastoma (NBL) suppressor gene mapped at chromosome 1p36.33 and was found to inhibit growth and induce apoptosis in cell lines. To test the hypothesis that p73 is a NBL suppressor gene, we analysed the p73 gene in primary human NBLs. Loss of heterozygosity (LOH) for p73 was observed in 19% (28/151) of informative cases which included 92 mass-screening (MS) tumors. The high frequency of p73 LOH was significantly associated with sporadic NBLs (9% vs 34%, P<0.001), N-myc amplification (10% vs 71%, P<0.001), and advanced stage (14% vs 28%, P<0.05). Both p73alpha and p73beta transcripts were detectable in only 46 of 134 (34%) NBLs at low levels by RT-PCR methods, while they were easily detectable in most breast cancers and colorectal cancers under the same conditions. They found no correlation between p73 LOH and its expression levels (P>0.1). We found two mutations out of 140 NBLs, one somatic and one germline, which result in amino acid substitutions in the C-terminal region of p73 which may affect transactivation functions, though, in the same tumor samples, no mutation of the p53 gene was observed as reported previously. These results suggest that allelic loss of the p73 gene may be a later event in NBL tumorigenesis. However, p73 is infrequently mutated in primary NBLs and may hardly function as a tumor suppressor in a classic Knudson's manner.  (+info)

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. (6/19725)

Microdeletions of chromosome 22q11 are the most common genetic defects associated with cardiac and craniofacial anomalies in humans. A screen for mouse genes dependent on dHAND, a transcription factor implicated in neural crest development, identified Ufd1, which maps to human 22q11 and encodes a protein involved in degradation of ubiquitinated proteins. Mouse Ufd1 was specifically expressed in most tissues affected in patients with 22q11 deletion syndrome. The human UFD1L gene was deleted in all 182 patients studied with 22q11 deletion, and a smaller deletion of approximately 20 kilobases that removed exons 1 to 3 of UFD1L was found in one individual with features typical of 22q11 deletion syndrome. These data suggest that UFD1L haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion.  (+info)

Pyrin/marenostrin mutations in familial Mediterranean fever. (7/19725)

Familial Mediterranean fever (FMF) is an inherited inflammatory disease that is frequently complicated by reactive systemic (AA) amyloidosis. It is principally recognized in certain Mediterranean populations, and the diagnosis depends on clinical features. Four mutations strongly linked to FMF have lately been identified in a gene encoding a novel protein that has been named pyrin or marenostrin. We studied 27 consecutive patients of varied ethnic origin, including an English man, who had classical, probable or possible FMF. Pyrin/marenostrin genotypes were determined, and AA amyloidosis was sought using serum amyloid P component scintigraphy. Among the 23 patients with classical or probable FMF, 17 were homozygotes or compound heterozygotes for pyrin/marenostrin mutations, and in five, only single allele mutations were identified. Two new mutations, T6811 and delta M694, were discovered in addition to the four described previously. No mutations were identified in three of the four patients with possible FMF. Nine patients had AA amyloidosis, but this association was not restricted to any particular genotype. Most patients with FMF have mutations in both pyrin/marenostrin alleles, and genotyping at this locus is a valuable diagnostic test. Unidentified second mutations are likely to occur in FMF patients who have apparently solitary mutations, and therefore genotype results must be interpreted in conjunction with the clinical picture.  (+info)

Mutations and allelic deletions of the MEN1 gene are associated with a subset of sporadic endocrine pancreatic and neuroendocrine tumors and not restricted to foregut neoplasms. (8/19725)

Endocrine pancreatic tumors (EPT) and neuroendocrine tumors (NET) occur sporadically and rarely in association with multiple endocrine neoplasia type 1 (MEN1). We analyzed the frequency of allelic deletions and mutations of the recently identified MEN1 gene in 53 sporadic tumors including 30 EPT and 23 NET (carcinoids) of different locations and types. Allelic deletion of the MEN1 locus was identified in 18/49 (36.7%) tumors (13/30, 43.3% in EPT and 5/19, 26.3% in NET) and mutations of the MEN1 gene were present in 8/52 (15.3%) tumors (4/30 (13.3%) EPT and 4/22 (18.1%) NET). The somatic mutations were clustered in the 5' region of the coding sequence and most frequently encompassed missense mutations. All tumors with mutations exhibited a loss of the other allele and a wild-type sequence of the MEN1 gene in nontumorous DNA. In one additional patient with a NET of the lung and no clinical signs or history of MEN1, a 5178-9G-->A splice donor site mutation in intron 4 was identified in both the tumor and blood DNA, indicating the presence of a thus far unknown MEN1 syndrome. In most tumor groups the frequency of allelic deletions at 11q13 was 2 to 3 times higher than the frequency of identified MEN1 gene mutations. Some tumor types, including rare forms of EPT and NET of the duodenum and small intestine, exhibited mutations more frequently than other types. Furthermore, somatic mutations were not restricted to foregut tumors but were also detectable in a midgut tumor (15.2% versus 16.6%). Our data indicate that somatic MEN1 gene mutations contribute to a subset of sporadic EPT and NET, including midgut tumors. Because the frequency of mutations varies significantly among the investigated tumor subgroups and allelic deletions are 2 to 3 times more frequently observed, factors other than MEN1 gene inactivation, including other tumor-suppressor genes on 11q13, may also be involved in the tumorigenesis of these neoplasms.  (+info)

TY - JOUR. T1 - A Comprehensive Analysis of Replicative Lifespan in 4,698 Single-Gene Deletion Strains Uncovers Conserved Mechanisms of Aging. AU - McCormick, Mark A.. AU - Delaney, Joe R.. AU - Tsuchiya, Mitsuhiro. AU - Tsuchiyama, Scott. AU - Shemorry, Anna. AU - Sim, Sylvia. AU - Chou, Annie Chia Zong. AU - Ahmed, Umema. AU - Carr, Daniel. AU - Murakami, Christopher J.. AU - Schleit, Jennifer. AU - Sutphin, George L.. AU - Wasko, Brian M.. AU - Bennett, Christopher F.. AU - Wang, Adrienne M.. AU - Olsen, Brady. AU - Beyer, Richard P.. AU - Bammler, Theodor K.. AU - Prunkard, Donna. AU - Johnson, Simon C.. AU - Pennypacker, Juniper K.. AU - An, Elroy. AU - Anies, Arieanna. AU - Castanza, Anthony S.. AU - Choi, Eunice. AU - Dang, Nick. AU - Enerio, Shiena. AU - Fletcher, Marissa. AU - Fox, Lindsay. AU - Goswami, Sarani. AU - Higgins, Sean A.. AU - Holmberg, Molly A.. AU - Hu, Di. AU - Hui, Jessica. AU - Jelic, Monika. AU - Jeong, Ki Soo. AU - Johnston, Elijah. AU - Kerr, Emily O.. AU - Kim, ...
Despite a number of different transgenes that can mediate DNA deletion in the developing lens, each has unique features that can make a given transgenic line more or less appropriate for particular studies. The purpose of this work encompasses both a review of transgenes that lead to the expression of Cre recombinase in the lens and a comparative analysis of currently available transgenic lines with a particular emphasis on the Le-Cre and P0-3.9GFPCre lines that can mediate DNA deletion in the lens placode. Although both of these transgenes are driven by elements of the Pax6 P0 promoter, the Le-Cre transgene consistently leads to ocular abnormalities in homozygous state and can lead to ocular defects on some genetic backgrounds when hemizygous. Although both P0-3.9GFPCre and Le-Cre hemizygous transgenic mice undergo normal eye development on an FVB/N genetic background, Le-Cre homozygotes uniquely exhibit microphthalmia. Examination of the expression patterns of these two transgenes revealed similar
KIP2 deletion affects Bik1 localization at cMT +tips. (A) Bik1 localization in WT (GFP-TUB1) and kip2Δ mutant. In the mutant, Bik1 accumulation is reduced or a
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Heterozygous mutations of the NRXN1 gene, which encodes the presynaptic cell-adhesion molecule neurexin-1, were repeatedly associated with autism and schizophrenia. However, diverse clinical presentations of NRXN1 mutations in patients raise the question of whether heterozygous NRXN1 mutations alone …
A quest that began over a decade ago with a chance observation has reached a milestone: the identification of a gene that may regulate regeneration in mammals. The absence of this single gene, called p21, confers a healing potential in mice long thought to have been lost through evolution and reserved for creatures like flatworms, sponges, and some species of salamander. .... Snyder found that p21, a cell cycle regulator, was consistently inactive in cells from the MRL mouse ear. P21 expression is tightly controlled by the tumor suppressor p53, another regulator of cell division and a known factor in many forms of cancer. The ultimate experiment was to show that a mouse lacking p21 would demonstrate a regenerative response similar to that seen in the MRL mouse. And this indeed was the case. As it turned out, p21 knockout mice had already been created, were readily available, and widely used in many studies. What had not been noted was that these mice could heal their ears. ...
Deleting the ATDC gene blocked tumor formation in a well-known mice model of pancreatic cancer, revealing a potential target for cancer prevention.
Author Summary Transfer RNAs are an important component of the translation machinery. Despite extensive biochemical investigations, a systems-level investigation of tRNAs functional roles in physiology, and genetic interactions among them, is lacking. We created a comprehensive tRNA deletion library in yeast and assessed the essentiality of each tRNA in multiple conditions. The majority of tRNA deletions showed no appreciable fitness defect when such strains were grown on rich medium. More challenging environmental conditions, however, revealed a richer set of specific-tRNA phenotypic defects. Co-deletion of tRNA combinations revealed that tRNAs with essential function can be compensated by members of the same or different anti-codon families. We often saw that identical tRNA gene copies contribute deferentially to fitness, suggesting that the genomic context of each gene can affect functionality. Genome-wide expression changes in response to tRNA deletions revealed two different responses. When a
Screening for a gene deletion mutant whose temperature sensitivity is suppressed by FK506 in budding yeast and its application for a positive screening for drugs inhibiting calcineurin, BIOSCIENCE BIOTECHNOLOGY AND BIOCHEMISTRY, 79巻, 5号, pp.790-pp.794, MAY 4 ...
PreciseDeletion is a database of primers for the precise scar free deletion of genes, according to the methods described in Aubrey et al. (2015) A Tool for Multiple Targeted Genome Deletions that Is Precise, Scar-Free, and Suitable for Automation. doi: 10.1371/journal.pone.0142494.. Primer details can be queried using this form. The current primers were uploaded on 16th December 2014. For large volumes of queries we ask that you download the complete dataset, using the download links below.. ...
The target of rapamycin protein (TOR) is a highly conserved ataxia telangiectasia-related protein kinase essential for cell growth. Emerging evidence indicates that TOR signaling is highly complex and is involved in a variety of cellular processes. To understand its general functions, we took a chemical genomics approach to explore the genetic interaction between TOR and other yeast genes on a genomic scale. In this study, the rapamycin sensitivity of individual deletion mutants generated by the Saccharomyces Genome Deletion Project was systematically measured. Our results provide a global view of the rapamycin-sensitive functions of TOR. In contrast to conventional genetic analysis, this approach offers a simple and thorough analysis of genetic interaction on a genomic scale and measures genetic interaction at different possible levels. It can be used to study the functions of other drug targets and to identify novel protein components of a conserved core biological process such as DNA damage ...
Strain sensitivity to different translation-inhibitory drugs. Wild type (WT) or gene deletion mutant strains (yploo9cΔ, yil137cΔ, ypl183w-aΔ, ydr056cCΔ and
In article ,Pine.3.07.9406011347.A11088-b100000 at labsun1.med.uottawa.ca,, g056432 at LABSUN1.MED.UOTTAWA.CA (jeffrey wigle , grad stud) writes: ,, Hello ,, ,, Im using Qiagen purified plasmid DNA to sequence with a T7 sequencing ,, kit. Generally the sequence Ive got has been very clear but occasionally ,, I get no sequence at all from a given deletion timepoint. ,, The amount of DNA used for sequencing was approx. the same for the ,, deletions that worked and the ones that didnt -as measured by a ,, spectrophotometer. I denatured the plasmid with NaOH for 5 minute and ,, then ethanol precipitated before sequencing. The plasmid is ,, bluescript and the kit used for deletion was Erase-a-BASE. I protected ,, with BSTXI and I opened the plasmid up for digestion with HindIII. The ,, deletions looked fine when run on an agarose gel (only one major band at ,, each timepoint). ive done deletions before and did not have this ,, problem but i was using single stranded sequencing(phagemid was ,, ...
To update or delete an entity, you will need to be capable of recognize it by using the PartitionKey and RowKey values. In this regard, your choice of PartitionKey and RowKey for modifying entities should observe related requirements towards your option to guidance position queries since you wish to identify entities as proficiently as you possibly can. You dont need to use an inefficient partition or table scan to locate an entity if you want to find the PartitionKey and RowKey values you need to update or delete it. The subsequent designs within the section Table Structure Designs address optimizing the general performance or your insert, update, and delete operations: Significant volume delete sample - Enable the deletion of the higher volume of entities by storing all the entities for simultaneous deletion in their own individual independent table; you delete the entities by deleting the table ...
My sons is 4 yrs 9 months. His deletion is big (3 to 43). Before knowing the deletion I was encouraged about exon skipping. I asked Dr Wilton from Australia…
Vascularization is an essential process involved in embryonic development and vascular remodeling. Numerous stimuli (i.e. shear stress, cytokines, growth factor...
Wikia is not accessible if youve made further modifications. Remove the custom ad blocker rule(s) and the page will load as expected ...
Identifies conditions (media and gene deletions) so that a reaction of interest is essential for a measurable function (e.g. growth ...
Institut za molekularnu genetiku i genetičko inženjerstvo je prestižna ustanova koja se bavi fundamentalnim istraživanjima u oblasti molekularne biologije, i njihovom primenom u zdravstvu, poljoprivredi i industriji.
Institut za molekularnu genetiku i genetičko inženjerstvo je prestižna ustanova koja se bavi fundamentalnim istraživanjima u oblasti molekularne biologije, i njihovom primenom u zdravstvu, poljoprivredi i industriji.
if (!doesSchemaExist(schemaType, schemaName)) { throw new NotFoundException(schemaType + / + schemaName); } switch (schemaType) { case VIRTUAL: virSchemaDAO.delete(schemaName); break; case DERIVED: derSchemaDAO.delete(schemaName); break; case PLAIN: default: plainSchemaDAO.delete(schemaName); } }. As you can read the second class has a control on schema existence, the first one hasnt. We have to add the same check on the ConfigurationLogic class.. Relevant mail thread: http://markmail.org/message/3ufidttokvw2km5k. ...
talk contribs deleted page User:Adrianrequarth (Vandalism: content was: เหตุผลที่ดื่ม Collagen คนที่มีอายุ 25 ขึ้นไปจะมีปริมาณคอลล... (and the only contributor was [[Special:Contributions/Adrianrequarth,Adria...) ...
We previously developed the DBRF-MEGN (d ifference-b ased r egulation f inding-m inimum e quivalent g ene n etwork) method, which deduces the most parsimonious signed directed graphs (SDGs) consistent with expression profiles of single-gene deletion mutants. However, until the present study, we have not presented the details of the methods algorithm or a proof of the algorithm. We describe in detail the algorithm of the DBRF-MEGN method and prove that the algorithm deduces all of the exact solutions of the most parsimonious SDGs consistent with expression profiles of gene deletion mutants. The DBRF-MEGN method provides all of the exact solutions of the most parsimonious SDGs consistent with expression profiles of gene deletion mutants.
Rugsėjo 22 d. Biotechnologijos instituto Mikroskysčių technologijų sektoriuje besisvečiuojantys Prof. Hirotada Mori (Graduate School of Biological Sciences, Nara Institute of Science and Technology, Japan) ir Prof. Barry L. Wanner, Microbiology and Immunobiology Harvard Medical School,USA) skaitys pranešimus. Seminarų pradžia - 13 val., tarp seminarų planuojama trumpa, apie 15 min. trukmės, pertrauka. Seminarai vyks R-101 auditorijoje.. Pranešimų trumpos anotacijos: Prof. Hirotada Mori. Title: Monitoring population dynamics of Escherichia coli K-12 in stationary phase - An application of the new resource of E. coli - Abstact: We monitored population changes in mixed-cultures of our recently developed single-gene deletion mutant library of Escherichia coli K-12 carrying molecular bar-codes. Our bar-coded library is similar to the single-gene deletion Keio mutant library, except target genes were replaced with a chloramphenicol instead of a kanamycin resistance cassette and deletions ...
© 2015 Elsevier B.V. We have synthesized a series of luminescent iridium(III) complexes and investigated their ability to act as luminescent split G-quadruplex probes. After screening, the iridium(III) complex 1 [Ir(2-phenylquinoline)2(3,4,7,8-tetramethyl-1,10-phenanthroline)]PF6 was validated as a highly-selective G-quadruplex probe and was utilized to construct a label-free intermolecular G-quadruplex-based assay for the selective and sensitive detection of LMP1 gene deletion. This mix-and-detect assay is simple and selective, and could detect down to 10nM of the target gene in aqueous solution with a linear range from 10 to 500nM. We also investigated the performance of our split G-quadruplex-based sensing platform for LMP1 gene deletion in the presence of cellular debris, demonstrating the robustness of this sensing system in biological samples. Comparative assays were also performed using either organic dyes or labeled oligonucleotides as signal-transducing agents.
Multiple Deletions in Logistic Regression Models - Conditional deletions;logistic regression models;masking effects;multiple deletions;outliers;swamping effects;
An image encoding apparatus generate encoded data having a fixed length L which is less than or equal to m n bits and an integral multiple of 32 by m n pixel block, while resolution information and color information are excellently maintained. For this purpose, a block generation unit inputs image data by m n pixels. A 2-color extraction unit extracts representative colors C0 and C1 from the input block image data. An identification information detection unit generates m n items of identification information each identifying each pixel in the block as a pixel approximate to one of the colors C0 and C1. An identification information deletion unit deletes the items of identification information in corresponding positions based on a deletion pattern stored in a deletion pattern memory. A packing unit packs the colors C0, C1 and the identification information after deletion, and outputs the data as encoded data.
TY - JOUR. T1 - Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. AU - Huopaniemi, L AU - Tyynismaa, H AU - Rantala, A AU - Rosenberg, T AU - Alitalo, T PY - 2000. Y1 - 2000. KW - retinoschisis, X-linked. KW - genomic deletion. KW - RS1. KW - retinochisis. KW - PPEF-1. KW - serine-threonine phosphatase. KW - STK9. KW - serine-threonine kinase. KW - LINKED JUVENILE RETINOSCHISIS. KW - RETINAL-DEGENERATION. KW - FOUNDER MUTATIONS. KW - KINASE GENE. KW - XLRS1 GENE. KW - EXPRESSION. KW - PROTEIN. KW - PHOSPHATASE. KW - PROMOTER. KW - CLONING. KW - 118 Biological sciences. KW - genetiikka. M3 - Article. VL - 16. SP - 307. EP - 314. JO - Human Mutation. JF - Human Mutation. SN - 1059-7794. ER - ...
PURPOSE: Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is believed to be a critical gene responsible for intellectual disability, so far no unequivocal data have confirmed this hypothesis. METHODS: In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. In addition, myt1l spatiotemporal expression in zebrafish embryos was analyzed by quantitative polymerase chain reaction and whole-mount in situ hybridization. RESULTS: Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L. The familial cases comprise a 6-Mb deletion in a father and his three children and a 5 MYT1L overlapping duplication in a father and his two children. ...
Our results show that antitumor efficacy was greatly improved when E1B19K-deleted mutants were combined with subtherapeutic concentrations of the cytotoxic drug gemcitabine. In addition, the sensitization was specific for cancer cells and did not occur in normal cultured cells. Although we and others previously proposed incorporation of the E1B19K deletion in already potent replication-selective oncolytic mutants, this gene deletion had not been studied on its own (16-18, 20, 22, 25). Mutants with additional deletions in death-related genes such as ADP, E1B55K, or E3B were reported to have higher potency and improved spread in cancer cells. During viral infection the E1B55K and E3B genes protect against p53- and death receptor-induced apoptosis, respectively. The Ad5ΔE1B19K mutant used in this study was engineered to lack only the E1B19K antiapoptotic gene and was compared with mutants with E3B deletions with and without E1B19K. Our goal was to establish the role of a single E1B19K deletion in ...
Our molecular genetics lab offers single-gene deletion and duplication analysis through comparative genomic hybridization (CGH). Learn the indications and more.
TY - JOUR. T1 - ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE. AU - Estivill, X.. AU - Casals, T.. AU - Morral, N.. AU - Chillon, M.. AU - Bosch, A.. AU - Nunes, V.. AU - Gasparini, P.. AU - Seia, A.. AU - Pignatti, P. F.. AU - Novelli, G.. AU - Dallapiccola, B.. AU - Fernandez, E.. AU - Benitez, J.. AU - Williamson, R.. PY - 1989/12/9. Y1 - 1989/12/9. UR - http://www.scopus.com/inward/record.url?scp=0024965903&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0024965903&partnerID=8YFLogxK. U2 - 10.1016/S0140-6736(89)92024-2. DO - 10.1016/S0140-6736(89)92024-2. M3 - Article. C2 - 2574355. AN - SCOPUS:0024965903. VL - 334. SP - 1404. JO - The Lancet. JF - The Lancet. SN - 0140-6736. IS - 8676. ER - ...
Dear National Jewish Hospital, Ive been trying to get to the source of a primary immune deficiency that affects both my son and I. Researchers at CHOP discovered that we share a C2 gene deletion, so a few days ago, my son David Noah, had blood sent to your lab for C2 and C3 function…
A novel DFNB1 deletion allele supports the existence of a distant **cis**-regulatory region that controls **GJB2** and **GJB6** expression ...
To understand regulatory systems, it would be useful to uniformly determine how different components contribute to the expression of all other genes. We therefore monitored mRNA expression genome-wide, for individual deletions of one-quarter of yeast genes, focusing on (putative) regulators. The resulting genetic perturbation signatures reflect many different properties. These include the architecture of protein complexes and pathways, identification of expression changes compatible with viability, and the varying responsiveness to genetic perturbation. The data are assembled into a genetic perturbation network that shows different connectivities for different classes of regulators. Four feed-forward loop (FFL) types are overrepresented, including incoherent type 2 FFLs that likely represent feedback. Systematic transcription factor classification shows a surprisingly high abundance of gene-specific repressors, suggesting that yeast chromatin is not as generally restrictive to transcription as ...
It should be noted that for proteins containing both an ABM-1 and ABM-2 motif, the contribution of each motif to binding to ALG-2 is not fully understood yet. For instance, deletion of ABM-1 in CHERP (Q8IWX8) only slightly weakens binding to ALG-2, while deletion of ABM-2 has a more profound effect. Deletion of both motifs however, nearly abrogates binding (Sasaki-Osugi,2013). Similarly, PLSCR3 lacking its ABM-1 can bind both the longer and shorter isoform of ALG-2, while deletion of ABM-2 still allows binding to only the longer isoform. Binding to either isoform is lost upon deletion of both motifs (Shibata,2008). For Sec31A, loss of ABM-1 has no obvious effect, while loss of ABM-2 results in a weak interaction, although similar to the ALIX ABM-1 used as a positive control in the experiment (Shibata,2010). In addition, although Annexin A7 and A11 do not have a characterized ABM-2, they contain a sequence that resembles the ABM-2 sequences in CHERP, and they were predicted to have a low- and ...
What causes DiGeorge syndrome? As mentioned, 90 percent of patients with the features of this syndrome are missing a small part of their chromosome 22 at the q11 region. This region encompasses about 30 individual genes and results in developmental defects in specific structures throughout the body. It is not known why this region of chromosome 22 is prone to become deleted, but this is one of the most frequent chromosome defects in newborns. Deletion 22q11.2 is estimated to occur in one in 3,000 to 4,000 live births. Most of the 22q11.2 deletion cases are new occurrences or sporadic (occurs by chance). However, in about 10 percent of families, the deletion is inherited and other family members are affected or at risk for passing this deletion to their children. The gene is autosomal dominant, therefore, any person who has this deletion has a 50 percent chance of passing the deletion to a child. For this reason, whenever a deletion is diagnosed, both parents are offered the opportunity to have ...
If you created these pages, please note that the fact that they have been proposed for deletion does not necessarily mean that we do not value your kind contribution. It simply means that one person believes that there is some specific problem with them, such as a copyright issue. Please see Commons:But its my own work! for a guide on how to address these issues. ...
Feature :. N-terminal deletion of prnp (on Prnp background) introduction of constuct pPrPN-term: (sequence encoding AA 68-83 was deleted). ...
We have seen a nice and a quitesimple solution for measuring the similarity between two sequences. It relied on the so-called hammingdistance that is counting the number of differencesbetween two sequences. But the real situation is a bitmore complex as well see now, it needs an adequatesolution and algorithm. Why is it a bit more complex? Lets have a look at thispair of two sequences. If we apply the hamming distance,compute the hamming between these two sequences,we find ten differences. OK. But you must remember thatmutation may be substitution, deletion and insertion. So if wetake into account the deletion and insertion, the situation isvery different in the case of these two sequences. Lets see why. We can compare now that it isthe same set of sequences but here and here we made the hypothesisof insertion or deletion. Insertion or deletion depend on thesequence you take into account and one substitution. Instead ofhaving ten differences, the same sequences show only twoinsertions/deletions and
With respect to the TAP‐tagged proteins used in the different deletions (Figure 3), as we expected, all the proteins from the same module as the TAP‐tagged protein were highly recovered and had high probabilities. For instance, in Spt7-TAP-gcn5Δ;sgf29Δ, the highest probabilities were observed for Tra1, Ada1 and all the SPTs proteins with Spt8 exhibiting the highest probability (Figure 3A). Interestingly, for Spt8-TAP-sgf29Δ, Spt7 has the highest probability (after Spt8), suggesting a strong association between these two proteins (Figure 3A). To begin, we inspected the HAT/Core module and investigated the effect of the GCN5, SGF29 and ADA2 deletions on this module as well as on the entire complex. In the specific purifications that contain these deletions, ada2Δ had a greater effect on the HAT/Core module when compared with gcn5Δ and sgf29Δ (Figures 2A and 3B). Independent of the TAP‐tagged bait used, all and only the components of the HAT module were lost in ada2Δ (Figure 2A). In ...
3q deletion information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
View Notes - BIS101 HW6 F08 Engebrecht from BIS 101 at UC Davis. Deletions x Point mutations 1 2 3 4 5 1 2 3 4 5 1 - - - - + a + - - + + 2 - - + + b + + - + - 3 - - - c - + - - + 4 - + d - - - + + 5
View Notes - relationship to other organisms from CHEMISTRY CHM1025 at Broward College. York, the smallest visible deletion (about 4Mb) would represent about an 8 km gap and that on this scale, the
Thank you Carol for explaining this to me. I knew it was better to have both deletions but I didnt know why. I knew your chances of a longer life span had to do with deletions. My husband has one deletion and he has been ok for 2 years now. He does have some issues with memory and retaining information if it is a lot at one time butt I am thankful that is all we are dealing with. Although I dont post often, I still follow many of the threads on this site and pray for everyone here. His doctors told us he removed all the tumor in 2010 but there could be infiltrating cells. I try not to worry and enjoy life but I seem to worry more as more time passes since the diagnosis was 3 1/2 to 5 years, although I am praying that he will be here to see our daughter become an adult and have children of her own. I am glad to hear yourson has the deletions and is doing so well. Its good to hear from people that are doing well. It gives me hope. Their tumor was located in the same area and it sounds like they ...
A method and system for reliably performing extra-long operations in a reliable state-full system (such as a file system). The file system includes a separate portion of the file system reserved for files having extra-long operations in progress, including file deletion and file truncation. This separate portion of the file system is called the zombie file space; it includes a separate name space from the regular (
We initiate the first systematic study of the NP-hard Cluster Vertex Deletion (CVD) problem (unweighted and weighted) in terms of fixed-parameter algorithmics. In the unweighted case, one searches for
DiscoSnp. DiscoSnp is designed for discovering all kinds of SNPs (not only isolated ones), as well as insertions and deletions, from raw set(s) of reads. The number of input read sets is not constrained, it can be one, two, or more. No reference genome is needed. ...
Get the deletion tolerance site-process specific parameter for a collection of Site objects aggregated by a Sequence object. This method does some error checking and the calls getParameterAtSites(this=this,process=process,id=deletion.tolerance,index=index). See getParameterAtSites.Sequence for more details.
Chromosomal deletions in DNA often involve just one of two gene copies inherited from either parent. But scientists havent known how a deletion in one gene from one parent, called a hemizygous deletion, can contribute ...
Polyploidy, increased sets of chromosomes, occurs during development, cellular stress, disease and evolution. Despite its prevalence, little is known about the physiological alterations that accompany polyploidy. We previously described ploidy-specific lethality, where a gene deletion that is not …
The 12/10/2011 version of Keep Teeth White While Smoking has been deleted for inc. Caidoz, Davecrosby voted for the deletion. No one voted against the deletion. It had 25 views at time of deletion.. ...
To erase a single atom or bond, click on it. Deletion of the terminal bond deletes the terminal atom by default. Pressing the Alt button while deleting the bond, the terminal atom is not deleted. To change the default behavior, go to Edit , Preferences , Bonds tab and choose the desired Terminal Bond Deletion Method.. ...
If you reach a requirements to prevent some table for deletions or/and updates you may wonder how to reach that. The simple answer is to use INSTEAD OF triggers. INSTEAD OF triggers override the standard action of triggering statement: INSERT, UPDATE or DELETE. On that way, INSTEAD OF trigger can ignore parts of the batch, not process part of the batch or taking an alternative action. The major difference to the AFTER triggers is that INSTEAD OF triggers can be defined on a views as well as on a tables ...
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The revision #30014 of the page named Glossolalia does not exist. This is usually caused by following an outdated history link to a page that has been deleted. Details can be found in the deletion log. ...
One revision of this difference (32530) was not found. This is usually caused by following an outdated diff link to a page that has been deleted. Details can be found in the deletion log. ...
PMP22 gene has a deletion[1]. Diagnostic method. Family history, Electrophysiologic testing[2]. ... where the activity of the normal gene is insufficient to compensate for the loss of function of the other gene.[8] ... Peripheral Myelin Protein 22 gene encodes a 22-kD protein that comprises 2 to 5% of peripheral nervous system myelin,[9] it is ... 1993) detected the chromosome deletion in most of the individuals with the HNPP condition.[2][11][12] ...
"Systematic chromosomal deletion of bacterial ribosomal protein genes". J. Mol. Biol. 413 (4): 751-61. doi:10.1016/j.jmb.2011.09 ... an Updated Database of Essential Genes". Gene Essentiality. Methods in Molecular Biology. 1279. pp. 219-33. doi:10.1007/978-1- ... Taken together with previous results, 22 of the 54 E. coli ribosomal protein genes can be individually deleted from the genome. ... Gao, F; Luo, H; Zhang, C. T.; Zhang, R (2015). "Gene Essentiality Analysis Based on DEG 10, ...
General Trsp gene deletion is lethal to the embryo. The results of this research was used as a model for Kashin-Beck disease. ... Deletion of the Trsp gene in osteochondroprogenitor cells results in abnormal bone growth, delayed ossification, ... "Osteo-chondroprogenitor-specific deletion of the selenocysteine tRNA gene, Trsp, leads to chondronecrosis and abnormal skeletal ... General gene knock out of the TGF-β resulted in death. Conditional inactivation of TGF-βr2 of osteochondroprogenitor cells in ...
Targeted gene deletion in Zygosaccharomyces bailii. Yeast 18, 173-186. Kalathenos, P., Sutherland, J. P., Roberts, T. A., 1995 ...
"Entrez Gene: Chromosome 17p13.1 deletion syndrome". Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, et al ... Chromosome 17p13.1 deletion syndrome is a protein in humans that is encoded by the DEL17P13.1 gene. "Human PubMed Reference:". ... at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes". ...
Chromosome 1q21.1 deletion syndrome is a protein that in humans is encoded by the DEL1Q21 gene. "Entrez Gene: Chromosome 1q21.1 ...
... or deletion of genes. Inserted genes usually come from a different species in a form of horizontal gene-transfer. In nature ... Human gene therapy. Gene therapy,[110] uses genetically modified viruses to deliver genes that can cure disease in humans. ... firing small particles from a gene gun.[2][3][4]. Other methods exploit natural forms of gene transfer, such as the ability of ... A common technique used to find out where the gene is expressed is to attach it to GUS or a similar reporter gene that allows ...
Allanson, JE; Gemmill, RM; Hecht, BK; Johnsen, S; Wenger, DA (1988). "Deletion mapping of the beta-glucuronidase gene". ... The defective gene responsible for Sly syndrome is located on chromosome 7. Most people with Sly disease will have elevated ...
Koda Y, Soejima M, Yoshioka N, Kimura H (1998). "The haptoglobin-gene deletion responsible for anhaptoglobinemia". American ... Erickson LM, Kim HS, Maeda N (1993). "Junctions between genes in the haptoglobin gene cluster of primates". Genomics. 14 (4): ... Maeda N (1985). "Nucleotide sequence of the haptoglobin and haptoglobin-related gene pair. The haptoglobin-related gene ... The HP gene encodes a preproprotein that is processed to yield both alpha and beta chains, which subsequently combines as a ...
Cells with bbc1 gene deletion are viable. Bbc1 is affinity captured by the Nebulin-family actin filament anchoring protein Cyk3 ... As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through ... "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse ... "A map of 75 human ribosomal protein genes". Genome Res. 8 (5): 509-23. doi:10.1101/gr.8.5.509. PMID 9582194. "Entrez Gene: ...
Chromosome 16p12.2-p11.2 deletion syndrome is a protein that in humans is encoded by the DEL16P12.1P11.2 gene. "Entrez Gene: ... Chromosome 16p12.2-p11.2 deletion syndrome". Retrieved 2014-03-12. CS1 maint: discouraged parameter (link) v t e. ...
Scully LJ, Toze C, Sengar DP, Goldstein R (May 1993). "Early-onset autoimmune hepatitis is associated with a C4A gene deletion ... this includes 3 class I genes, the class III gene region, and 2 class II genes.[40] Research published in October 2015 by the ... one expects 1/2 of adjacent genes to have new gene-alleles, unless the genes are small and very close together. This dynamic ... "J. Genes and Immunity. 16 (7): 470-80. doi:10.1038/gene.2015.28. PMC 4840953. PMID 26291516.. ...
The plasmid is 'disarmed' by deletion of the tumor inducing genes; the only essential parts of the T-DNA are its two small (25 ... See also: horizontal gene transfer. The ability of Agrobacterium to transfer genes to plants and fungi is used in biotechnology ... It also carries genes for the biosynthesis of the plant hormones, auxin and cytokinins, and for the biosynthesis of opines, ... The plasmid T-DNA is integrated semi-randomly into the genome of the host cell,[7] and the tumor morphology genes on the T-DNA ...
Driessen, Arnold; Yang, Nuan (January 8, 2014). "Deletion of cdvB paralogous genes of Sulfolobus acidocaldarius impairs cell ... A study of the Sulfolobales acidocaldarius ups operon showed that one of the genes of the operon, saci-1497, encodes an ... endonuclease III that nicks UV-damaged DNA; and another gene of the operon, saci-1500, encodes a RecQ-like helicase that is ...
Harris, T. R.; Hammock, B. D. (2013). "Soluble epoxide hydrolase: Gene structure, expression and deletion". Gene. 526 (2): 61- ... doi:10.1016/j.gene.2013.05.008. PMC 3733540. PMID 23701967. Bellien, J; Joannides, R (2013). "Epoxyeicosatrienoic acid pathway ...
Wagner FF, Flegel WA (Aug 2000). "RHD gene deletion occurred in the Rhesus box". Blood. 95 (12): 3662-8. doi:10.1182/blood. ... This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; ... Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may ... The TMEM50A gene is located on chromosome 1 p36.11 in the human (homo sapiens) genome. Its mRNA sequence is 2284 base pairs in ...
"Systematic chromosomal deletion of bacterial ribosomal protein genes". Journal of Molecular Biology. 413 (4): 751-61. doi: ... Gao F, Luo H, Zhang CT, Zhang R (2015). "Gene essentiality analysis based on DEG 10, an updated database of essential genes". ... Taken together with previous results, 22 of the 54 E. coli ribosomal protein genes can be individually deleted from the genome ... November 2012). "Inactivation of ribosomal protein genes in Bacillus subtilis reveals importance of each ribosomal protein for ...
Harris TR, Hammock BD (September 2013). "Soluble epoxide hydrolase: gene structure, expression and deletion". Gene. 526 (2): 61 ... in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples". J. Hum. ... doi:10.1016/j.gene.2013.05.008. PMC 3733540. PMID 23701967. Sura P, Sura R, Enayetallah AE, Grant DF (2008). "Distribution and ... Soluble epoxide hydrolase (sEH) is a bifunctional enzyme that in humans is encoded by the EPHX2 gene. sEH is a member of the ...
Harris, T. R.; Hammock, B. D. (2013). "Soluble epoxide hydrolase: Gene structure, expression and deletion". Gene. 526 (2): 61- ... The human gene that expresses POR is highly polymorphic (see Gene polymorphism); many of the polymorphic variant PORs cause ... Human CYP epoxygenase genes come in many single nucleotide polymorphism (SNP) variants some of which code for epoxygenase ... doi:10.1016/j.gene.2013.05.008. PMC 3733540. PMID 23701967. Hart, S. N.; Zhong, X. B. (2008). "P450 oxidoreductase: Genetic ...
Harris TR, Hammock BD (Sep 2013). "Soluble epoxide hydrolase: gene structure, expression and deletion". Gene. 526 (2): 61-74. ... Humans have 57 putatively active CYP genes and 58 CYP pseudogenes; only a relatively few of the active CYP genes code for EET- ... Mice lacking either of the EET-producing Cyp2c44 or Cyp4ac44 genes (by gene knockout) develop hypertension when fed high sodium ... sEH inhibitors and gene knockout also reduce the number and severity of Epileptic seizures in several animal models; this ...
Insulin-like growth factor (IGF)-I gene deletion. Reviews in endocrine & metabolic disorders. 2003, 3 (4): 357-61. PMID ... positive regulation of gene expression. • negative regulation of gene expression. • cellular response to amyloid-beta. • ... The human gene encoding insulin-like growth factor I is located on chromosome 12. Hum. Genet. 1985, 69 (2): 157-60. PMID ... from diagnostic to triple-helix gene therapy of solid tumors. Acta Biochim. Pol. 2004, 49 (4): 979-90. PMID 12545204.. ...
How the genes destined for deletion are targeted is not yet known.[74][75] ... generated from somatic recombination of leucine-rich repeat gene segments in a recombination activating gene-independent manner ... Another trait is the ability to delete several genes from their somatic cell lineages, about 20% of their DNA, which are vital ... "Antigen-receptor genes of the agnathan lamprey are assembled by a process involving copy choice". Nature Immunology. 8 (2): ...
"In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome". Journal of Medical Genetics. 40 (1): 34-6 ... Mutations in the ''FBN1'' gene[edit]. ''FBN-1'' is a gene approximately 200kb and is made up of a large coding sequence divided ... Gene, 591 (1): 279-291, doi:10.1016/J.GENE.2016.07.033, PMC 6639799, PMID 27437668. .mw-parser-output cite.citation{font-style: ... These loci tend to have genes that are involved in vascular function.[27] The MYH11 gene is responsible for the smooth muscle ...
... common occurrence of NKG2-C deletion in the general population". Genes and Immunity. 4 (2): 160-7. doi:10.1038/sj.gene.6363940 ... The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially ... gene deletion". International Immunology. 16 (1): 163-8. doi:10.1093/intimm/dxh013. PMID 14688071. Ortega C, Romero P, Palma A ... and D receptor genes in the human natural killer gene complex". Immunogenetics. 48 (3): 163-73. doi:10.1007/s002510050420. PMID ...
Max EE, Battey J, Ney R, Kirsch IR, Leder P (Jun 1982). "Duplication and deletion in the human immunoglobulin epsilon genes". ... Ig epsilon chain C region is a protein that in humans is encoded by the IGHE gene. "Human PubMed Reference:". National Center ... "Entrez Gene: IGHE immunoglobulin heavy constant epsilon". CS1 maint: discouraged parameter (link) Venkitaraman AR, Williams GT ... Ellison J, Buxbaum J, Hood L (1983). "Nucleotide sequence of a human immunoglobulin C gamma 4 gene". DNA. 1 (1): 11-8. doi: ...
This "facilitates functional analysis by site-specific gene deletion." "Cochliobolus heterostrophus C5". Retrieved 25 October ...
Deletion of CUL3 gene in mice causes embryonic lethality. Cullin 3-RING complex consists of Cullin 3 protein, RING-box protein ... "Entrez Gene: CUL3 cullin 3". Cheng J, Guo J, Wang Z, North BJ, Tao K, Dai X, Wei W (January 2018). "Functional analysis of ... Cullin 3 is a protein that in humans is encoded by the CUL3 gene. Cullin 3 protein belongs to the family of cullins which in ... Mutations in CUL3 gene are associated with Familial hyperkalemic hypertension disease. CRL complex containing Cullin 3 controls ...
December 1994). "Deletion of p16 and p15 genes in brain tumors". Cancer Research. 54 (24): 6353-8. PMID 7987828. Guan KL, ... or p15INK4b is a protein that is encoded by the CDKN2B gene in humans. This gene lies adjacent to the tumor suppressor gene ... CDKN2B human gene location in the UCSC Genome Browser. CDKN2B human gene details in the UCSC Genome Browser. v t e. ... January 2018). "CDKN2B deletion is essential for pancreatic cancer development instead of unmeaningful co-deletion due to ...
Genetic blood test indicating deletion of the TAZ gene.[citation needed] Currently there is no treatment for Barth syndrome, ... Mutations in the tafazzin gene (TAZ, also called G4.5) are closely associated with Barth syndrome. The tafazzin gene product ... Human Gene Therapy. 30 (2): 139-154. doi:10.1089/hum.2018.020. ISSN 1043-0342. PMC 6383582. PMID 30070157. "Gene therapy for ... The human tafazzin gene, NG_009634, is listed as over 10,000 base pairs in length and the full-length mRNA, NM_000116, is 1919 ...
However deletion of the trpc4 gene had no impact on basic or complex strategic learning. Given that the trpc4 gene is expressed ... Deletion of the trpc4 gene decreases levels of sociability in a social exploration task. These results suggest that TRPC4 may ... "Deletion of the trpc4 gene and its role in simple and complex strategic learning". Nature Precedings. doi:10.1038/npre. ... "Sociability is decreased following deletion of the trpc4 gene". Nature Precedings. doi:10.1038/npre.2011.6367.1. Cooper D, ...
基因劑量(Gene dosage)會對人類的表現型產生龐大的影響,對於染色體中造成疾病的複寫、省略與分裂等現象的形成擁有一定的角色。例如唐氏症患者(21號染色體為三體)有較高的比率得到阿茲海默症,可能是因為與阿茲海默症有關的類澱粉前趨蛋白基因(位在21號 ... deletion)、插入(insertion)、複寫(duplication),以及複雜多位置變異(complex multi-site variants)的
This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ... This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors ... This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ...
There are a number of rare cases of diabetes that arise due to an abnormality in a single gene (known as monogenic forms of ... The template below (Endocrine pathology) is being considered for deletion. See templates for discussion to help reach a ... Most cases of diabetes involve many genes, with each being a small contributor to an increased probability of becoming a type 2 ... All of these genes together still only account for 10% of the total heritable component of the disease.[41] The TCF7L2 allele, ...
遗传学:150330 鼠基因:96794 同源基因:41321 ChEMBL(英语:ChEMBL): 1293235 GeneCards: LMNA Gene. ... a 50-amino acid deletion in prelamin A (amino acids 607-656) removes the site for the second endoproteolytic cleavage. ... Entrez Gene: LMNA lamin A/C.. *^ Capell BC, Collins FS. Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet. ... Lamin A/C gene and a related sequence map to human chromosomes 1q12.1-q23 and 10. Somat. Cell Mol. Genet. March 1993, 19 (2): ...
Nacktmäuse haben eine spontane Deletion im FOXN1-Gen. Menschen mit Mutationen in FOXN1 sind ebenfalls athymisch und haben ein ... "Nude", a new hairless gene with pleiotropic effects in the mouse. In: Genet Res 8/1966, S. 295-309. PMID 5980117 ... Knockout-Mäuse mit einer Deletion in FOXN1 zeigen den gleichen Phänotyp. Nacktmaus-Weibchen haben unterentwickelte Brustdrüsen ...
Gene content and protein synthesisEdit. The chloroplast genome most commonly includes around 100 genes[7][10] which code for a ... RNA editing is the insertion, deletion, and substitution of nucleotides in a mRNA transcript prior to translation to protein. ... 3 Gene content and protein synthesis *3.1 Chloroplast genome reduction and gene transfer ... Chloroplasts may contain 60-100 genes whereas cyanobacteria often have more than 1500 genes in their genome.[27] Contrarily, ...
The HLA genes fall in two categories (Type I and Type II). In general, mismatches of the Type-I genes (i.e. HLA-A, HLA-B, or ... They did not, however, use donors with the Δ32 deletion. After their transplant procedures, both were put on antiretroviral ... as members of the same ethnic group are more likely to have matching genes, including the genes for HLA.[24] ... A mismatch of an HLA Type II gene (i.e. HLA-DR, or HLA-DQB1) increases the risk of graft-versus-host disease. In addition, a ...
Some genes may have two alleles with equal distribution. For other genes, one allele may be common, and another allele may be ... due to mutations or deletions in the other alleles.[4] ... While some genes have only one allele because there is low ... Hemizygosity is also observed when one copy of a gene is deleted, or in the heterogametic sex when a gene is located on a sex ... A cell is said to be homozygous for a particular gene when identical alleles of the gene are present on both homologous ...
The Caulobacter CB15 genome has 4,016,942 base pairs in a single circular chromosome encoding 3,767 genes.[7] The genome ... and insertion/deletion polymorphisms at five chromosomal loci.[6] C. crescentus is synonymous with Caulobacter vibrioides.[1] ... These five proteins directly control the timing of expression of over 200 genes. The five master regulatory proteins are ... contains multiple clusters of genes encoding proteins essential for survival in a nutrient-poor habitat. Included are those ...
... chromosomal deletions. Human growth hormone (HGH) deficiency may occur at any time during infancy or childhood, with the most ... resulting from the interplay of multiple familial genes. It can also be due to one or more of many abnormal conditions, such as ...
Mutations and deletions of so-called tumor suppressor genes, such as P53, are thought to be the cause of some forms of brain ... These tumors show a high frequency of co-deletions of the p and q arms of chromosome 1 and chromosome 19 respectively (1p19q co ... Experimental treatments include targeted therapy, gamma knife radiosurgery,[45] boron neutron capture therapy and gene therapy. ... deletion) and have been found to be especially chemosensitive with one report claiming them to be one of the most ...
In 2002, Helen Fryssira and RJ Simensen identified a 3 base pair deletion in the gene encoding RSK2, which was the first report ... The syndrome is caused by mutations in the RPS6KA3 gene.[1] This gene is located on the short arm of the X chromosome (Xp22.2 ... A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex ... These cases are caused by new mutations in the RPS6KA3 gene (de novo mutations). A new mutation means that neither parent has ...
... a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes". Proceedings of the ... Yagi M، Zieger B، Roth GJ، Ware J (June 1998). "Structure and expression of the human septin gene HCDCREL-1". Gene. 212 (2): ... "Entrez Gene: SEPT5 septin 5". الوسيط ,المسار=. تم تجاهله (مساعدة); الوسيط ,العنوان=. تم تجاهله (مساعدة). .mw-parser-output cite ... McKie JM، Sutherland HF، Harvey E، Kim UJ، Scambler PJ (November 1997). "A human gene similar to Drosophila melanogaster peanut ...
... in genes has been linked between certain psychiatric disorders as well. Deletion in the 22q11.2 region of chromosome ... Frizzle feather was found to stem from a deletion in the genomic region coding for α-Keratin. This gene seems to ... Childhood manifestation of the gene deletion is typically associated with autism, while adolescent and later expression of the ... Such a gene that exhibits multiple phenotypic expression is called a pleiotropic gene . Therefore mutation in a pleiotropic ...
RNA probes can be designed for any gene or any sequence within a gene for visualization of mRNA,[3][4][5] lncRNA[6][7][8] and ... Examples of diseases that are diagnosed using FISH include Prader-Willi syndrome, Angelman syndrome, 22q13 deletion syndrome, ... The technology has potential applications in cancer diagnosis,[14] neuroscience, gene expression analysis,[15] and companion ... MA-FISH is applied for detecting the HER2 gene in breast cancer tissues.[16] ...
"Deletions in the Y-derived amelogenin gene fragment in the Indian population". BMC Med Genet. 7: 37. doi:10.1186/1471-2350-7-37 ... The amelogenin gene has been most widely studied in humans, where it is a single copy gene, located on the X and Y chromosomes ... Two bands of DNA, at 106bps and 112bps, are resolved if both the AMELX and AMELY versions of the gene are present (i.e. the ... AMELX's intron 1 contains a 6 bp deletion relative to intron 1 of AMELY. This can be detected at low cost using Polymerase ...
2005). Bioinformatics: A Practical Guide to the Analysis of Genes and Proteins (en inglés) (third edition ed.). Wiley. ISBN 0- ... "Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data". Bioinformatics 21 (19). ... 1993) A Hidden Markov Model that finds genes in E. coli DNA ... Serial Analysis of Gene Expression, Análise en serie da ... Circular SV40 DNA Molecules Containing Lambda Phage Genes and the Galactose Operon of Escherichia coli" (PDF). Proceedings of ...
If a repressive miRNA is silenced by hypermethylation or deletion, then a gene it is targeting becomes over-expressed. ... RAD51 is a eukaryotic gene. The enzyme encoded by this gene is a member of the RAD51 protein family which assists in repair of ... Many cancers have epigenetic deficiencies in various DNA repair genes (see Frequencies of epimutations in DNA repair genes in ... Gene ontology. Molecular function. • nucleotide binding. • DNA binding. • DNA-dependent ATPase activity. • recombinase activity ...
Genes[edit]. Number of genes[edit]. The following are some of the gene count estimates of human chromosome 16. Because ... DEL16p13.3, RSTSS: Chromosome 16p13.3 deletion syndrome (Rubinstein-Taybi deletion syndrome). *DHX38: DEAH-box helicase 38 ... Gene list[edit]. See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome ... So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[5] ...
Mutations to the TATA box can range from a deletion or insertion to a point mutation with varying effects based on the gene ... "Gene. 389 (1): 52-65. doi:10.1016/j.gene.2006.09.029. PMC 1955227. PMID 17123746.. ... and viral genes.[8][2] The TATA box was found in protein coding genes transcribed by RNA polymerase II.[2] ... of genes have promoter regions containing the TATA box.[13] Genes containing the TATA-box tend to be involved in stress- ...
In 1988 Ed Harlow demonstrates that cancer-causing and cancer-preventing genes (oncogenes and tumor-suppressor genes) interact; ... In 2004, Wigler and Jonathan Sebat discover that enhancements and deletions of genetic material called copy number variations ... The program began as an initiative of Eugene G. Blackford and Franklin Hooper, director of the Brooklyn Institute of Arts and ... In 1944 Barbara McClintock discovered transposons ("jumping genes"), for which she received a Nobel Prize in 1983.[29] ...
Mayer, Gene. Immunology - Chapter One: Innate (non-specific) Immunity. Microbiology and Immunology On-Line Textbook. USC School ... 複製清除(英語:Clonal deletion). *免疫缺損 ...
gene.com/gene/products/information/pdf/rituxan-prescribing.pdf *^ Major, Eugene O; Yousry, Tarek A; Clifford, David B (May 2018 ... a 143 base-pair deletion was identified in the agnogene, coding for a 10 amino acid truncated peptide, which is believed to ... A map of the genome of JC virus, indicating the position of the tumor antigen genes (red), the three capsid protein genes ( ... Marshall, Leslie J.; Dunham, Lisa; Major, Eugene O. (December 2010). "Transcription factor Spi-B binds unique sequences present ...
In humans, squalene epoxidase is encoded by the SQLE gene. Squalene monooxygenase (SqMO) was formerly referred to as squalene ... Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens ... "Entrez Gene: SQLE squalene epoxidase". Nagai M, Sakakibara J, Wakui K, Fukushima Y, Igarashi S, Tsuji S, Arakawa M, Ono T (Aug ... Gene. 200 (1-2): 149-56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren ...
新的基因座可以由許多種不同的機制產生,包括基因複製、反轉錄複製轉移、基因嵌合(chimeric gene formation)、基因截短(gene truncation)、以及招收非編碼序列等直接形成(de novo origination)機制。[42 ... deletion)、反轉(inversion)和轉移(translocation)。[13] ... 重組也可能造成突變。當染色體對齊失誤時,重組可能
GAG - gamma globulin - gamma interferon - ganglion - GART - gastrointestinal (GI) - gene - gene therapy - genetic engineering ... DAIDS - data safety and monitoring board (DSMB) - deletion - dementia - demyelination - dendrite - dendritic cells - ... regulatory genes - regulatory T cells - remission - renal - rescue therapy - resistance - retina - retinal detachment - ...
A 2014 update of the classification guide added a 9th category and added 30 new gene defects from the prior 2009 version. In ... heavy chain deletions, kappa chain deficiency, isolated IgG subclass deficiency, IgA with IgG subclass deficiency, selective ...
... they can be used to determine the tissue or cell type in which a given gene is required and to determine whether a gene is cell ... Monosomies/deletions. *1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome *1. *Wolf-Hirschhorn syndrome *4 ... The FLP gene can then be induced selectively, commonly using either the heat shock promoter or the GAL4/UAS system. The ... The flip recombinase (or FLP) is a gene from the commonly studied yeast Saccharomyces cerevisiae which recognizes "flip ...
... engineering that was used to generate an ES cell line with a megabase deletion encompassing the tumour suppressor gene ... that can be employed for in vitro recovery of intervening sequences or the generation of in vivo deletions. This strategy may ... deletions, inversions, translocations) are a hallmark of human tumour cells. Yet, the generation of animal models for gross ... Such deletions range from small intragenic deletions to loss of large chromosomal regions encompassing thousands of genes. ...
Home » Disorders » Eating Disorders » Gene Deletion Linked to Mental Illness, Obesity. Gene Deletion Linked to Mental Illness, ... psychcentral.com/news/2012/10/11/gene-deletion-linked-to-mental-illness-obesity/45914.html ... "Because thousands of genes are involved in mood, anxiety, or obesity, it allows us to root our studies on a solid foundation." ... Linking a deletion in BDNF conclusively to mood and anxiety really tells us that it is possible to dissect the biological ...
... July 13, 2018. 0 ... neither mice with Maged1 deletion in PFC, nor those with deletion in amygdala showed any significant alteration in the ability ... The finding of a gene that can be deleted to induce complete lack of addictive responses to cocaine in mice is also " ... The Mage family of genes was first identified as tumor suppressors, but some, including Maged1, are active in healthy cells and ...
Deleting the ATDC gene blocked tumor formation in a well-known mice model of pancreatic cancer, revealing a potential target ... Home Topics Cancer Pancreatic Cancer Halted in Mice through Single Gene Deletion ... New research finds that the deletion of the ataxia-telangiectasia group D-complementing (Atdc) gene, whose human homolog is up- ... Pancreatic Cancer Halted in Mice through Single Gene Deletion. May 2, 2019. 0 ...
... Suheyla Gorar,1 Doga Turkkahraman,2 and Kanay Yararbas3 ... As further human studies included familial total deletions of the gene all causing CPHD phenotype, gross deletions became well ... H. Zhang, Y. Wang, L. Han, X. Gu, and D. Shi, "A large deletion of PROP1 gene in patients with combined pituitary hormone ... K. Hemchand, K. Anuradha, S. Neeti et al., "Entire prophet of Pit-1 (PROP-1) gene deletion in an Indian girl with combined ...
1.4 OMIM# of the gene(s). 602306.. 1.5 Mutational spectrum. Phelan-McDermid syndrome can result from simple 22q13 deletions, ... Bonaglia MC, Giorda R, Mani E : Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion ... Wilson HL, Crolla JA, Walker D : Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and ... 55% de novo deletion 22q13.3 of the paternally derived chromosome. 20% de novo deletion 22q13.3 of the maternally derived ...
Using genetic engineering, the scientists removed the gene from mice and bred a line of the animals, all missing the same gene ... Timid Mice Made Daring by Removing One Gene By BENEDICT CAREY Scientists working with mice have found that by removing a single ... Gene therapy to create daredevil warriors is likely to remain the province of screenwriters, but the new findings may help ... They found that a protein called stathmin, produced by the stathmin gene, was highly concentrated in the amygdala but hard to ...
Home , Website archive , News archive , ioppn , News stories , Genetic consortium discover gene deletion that increases risk of ... Genes control how information is duplicated in the nervous system. *Maths and maps make you nervous? It could be in your genes ... Genetic consortium discover gene deletion that increases risk of schizophrenia. OCTOBER 28, 2008 ... These deletions also link schizophrenia directly to autism, since neurexin deletions are associated with both diseases. While ...
Identification of Sequence Mutations in the Yeast Gene-Deletion Bar Codes. The fidelity of yeast gene-deletion strain ... Construction of the KanMX deletion cassette and the gene-deletion molecular barcoding strategy. A PCR-based deletion strategy ... Yeast gene-deletion strains with large deletions in tags or defects in common primers may be remade by recombination of a new ... Disruption of gene function by deletion allows elucidation of both qualitative and quantitative functions of genes. The yeast ...
... M. P. Gallegos-Arreola,1 B. C. Gómez-Meda,1 G. Morgan- ... M. P. Gallegos-Arreola, B. C. Gómez-Meda, G. Morgan-Villela, et al., "GSTT1 Gene Deletion Is Associated with Lung Cancer in ...
Microhomology-mediated deletion and gene conversion in African trypanosomes.. Glover L1, Jun J, Horn D. ... One-sided MMEJ-based gene conversion is RAD51 dependent. (A) PCR assays indicate a similar pattern of MMEJ-based deletion in ... linked to the NPT gene in this case. In clones 24 and 73, the terminal 21 codons of the 2110 gene are replaced with 11 new ... Mean deletions were of 54 bp on the side closest to the break and 284 bp in total. Break proximity, microhomology length and GC ...
6 cases with a deletion of 9.1-20 Mb involving the FOXP2 gene have been reported, suggesting a new contiguous gene deletion ... Mosaic 7q31 Deletion Involving FOXP2 Gene Associated With Language Impairment. Chiara Palka, Melissa Alfonsi, Angelika Mohn, ... Mosaic 7q31 Deletion Involving FOXP2 Gene Associated With Language Impairment. Chiara Palka, Melissa Alfonsi, Angelika Mohn, ... Mosaic 7q31 Deletion Involving FOXP2 Gene Associated With Language Impairment. Chiara Palka, Melissa Alfonsi, Angelika Mohn, ...
A simple and efficient method for direct gene deletion in Saccharomyces cerevisiae.. Baudin A1, Ozier-Kalogeropoulos O, Denouel ...
Deletion of the p27Kip1 gene restores normal development in cyclin D1-deficient mice. Yan Geng, Qunyan Yu, Ewa Sicinska, ... Deletion of the p27Kip1 gene restores normal development in cyclin D1-deficient mice ... Deletion of the p27Kip1 gene restores normal development in cyclin D1-deficient mice ... Deletion of the p27Kip1 gene restores normal development in cyclin D1-deficient mice ...
We generated mice that possess a heterozygous deletion of the PTG gene. These mice have reduced glycogen stores in adipose ...
Lactobacillus plantarum ldhL gene: overexpression and deletion.. T Ferain, D Garmyn, N Bernard, P Hols, J Delcour ... Lactobacillus plantarum ldhL gene: overexpression and deletion. Message Subject (Your Name) has forwarded a page to you from ... A stable chromosomal deletion in the ldhL gene was then constructed in L. plantarum by a two-step homologous recombination ... Inactivation of the gene resulted in the absence of L-LDH activity and in exclusive production of the D isomer of lactate. ...
Deletion gene variation [16].. *Frequent gene deletions and duplications have been described in the C4 and CYP21 genes, ... T cell receptor delta gene deletion mechanism affects multiple genes [24].. *Macrophages from gene deletion mutant mice lacking ... Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary ... Associations of Gene Deletion with chemical compounds. *Partial deficiencies of C4A and C4B, primarily due to gene deletions ...
Gene deletion allows cancer cells to thrive when migrating within the brain Study finding could open up new therapy strategies ... Gene deletion allows cancer cells to thrive when migrating within the brain. University of Texas M. D. Anderson Cancer Center ... Using a mouse model, they studied deletion of major suppressing genes including QKI to see what correlation might exist. ... "Our previous studies showed that QKI is one of the tumor suppressor genes that can potentially regulate cancer stem cells and ...
ohns Hopkins researchers report that the deletion of any single gene in yeast cells puts pressure on the organisms genome to ... "The deletion of any given gene usually results in one, or sometimes two, specific genes being warped in response," says J. ... "Pairing the originally deleted gene with the gene that was secondarily mutated gave us a list of gene interactions that were ... ohns Hopkins researchers report that the deletion of any single gene in yeast cells puts pressure on the organisms genome to ...
... gene deletion include Markerless Gene Deletion by Floxed Cassette Allelic Exchange Mutagenesis in Chlamydia trachomatis, ... Producing Gene Deletions in Escherichia coli by P1 Transduction with Excisable Antibiotic Resistance Cassettes, The Green ... Generation of In-Frame Gene Deletion Mutants in Pseudomonas aeruginosa and Testing for Virulence Attenuation in a Simple Mouse ... Monster Process for the Generation of Yeast Strains Carrying Multiple Gene Deletions. ...
... and large gene deletions result in severe hemophilia, with no detectable factor VIII antigen; such patients are more ... Gene deletions lead to factor VIII deficiency, and large gene deletions result in severe hemophilia, with no detectable factor ... What is the role of gene deletions in the etiology of hemophilia A?) and What is the role of gene deletions in the etiology of ... What is the role of gene deletions in the etiology of hemophilia A?. Updated: Jan 14, 2019 ...
... and large gene deletions result in severe hemophilia, with no detectable factor VIII antigen; such patients are more ... Gene deletions lead to factor VIII deficiency, and large gene deletions result in severe hemophilia, with no detectable factor ... What is the role of gene deletions in the etiology of hemophilia A?. Updated: Jan 14, 2019 ... Chuah MK, Collen D, VandenDriessche T. Gene therapy for hemophilia. J Gene Med. 2001 Jan-Feb. 3(1):3-20. [Medline]. ...
Patients with deletions of chromosome 6p22-p24 reveal characteristic facial features and intellectual disability (ID). JARID2 ... Most likely these additional manifestations were caused by deletions of genes surrounding JARID2. ... including 8 patients with deletions of 6p involving 6p22.3 and 8 patients with mutations of the JARID2 gene. The comparison of ... Patients with deletions of chromosome 6p22-p24 reveal characteristic facial features and intellectual disability (ID). The loss ...
... 18.07.2002 ... Eventually, people with only one copy of the osteoprotegerin gene married and had children with no copies of the gene." ... Neither patient had any trace of the gene for osteoprotegerin. "At first we thought there must be something wrong with our DNA ... The team first evaluated the gene for RANK in these two patients. In a previous collaborative study, they had identified a RANK ...
... mice were created to allow conditional il2 gene deletion when treated with the estrogen analogue, tamoxifen (TAM) as adults. ... mice were created to allow conditional il2 gene deletion when treated with the estrogen analogue, tamoxifen (TAM) as adults. ... and to circumvent the IL-2 deficiency autoimmune syndrome of conventional il2 gene deletion, ... and to circumvent the IL-2 deficiency autoimmune syndrome of conventional il2 gene deletion, ...
... than mutants with deletions in different modules. This suggests that screens for epistasis between gene deletion mutations will ... Here, by comparing evolution in strains with gene deletions in different functional modules, we quantify the effect of ... For example, genes that participate in the same functional module will often show a characteristic pattern of positive ... We find that mutants with deletions in the same module have more similar evolutionary outcomes, on average, ...
Targeted gene deletion in Candida parapsilosis demonstrates the role of secreted lipase in virulence ... Targeted gene deletion in Candida parapsilosis demonstrates the role of secreted lipase in virulence ... We have developed an efficient gene deletion system for C. parapsilosis based on the repeated use of the dominant ... This efficient system for targeted gene deletion holds great promise for rapidly enhancing our knowledge of the biology and ...
SATB2-associated syndrome (SAS) is a disorder caused by mutations of the SATB2 gene or deletion of this gene within 2q33.1, a ... Summary of a newly published article discussing 2q33.1 deletion and SATB2 gene mutation or deletion. ... SATB2-associated syndrome (SAS) is a disorder caused by mutations of the SATB2 gene or deletion of this gene within 2q33.1, a ... Newly published article discussing 2q33.1 deletion and SATB2 gene mutation or deletion. ...
The deletion was ~204 kilobases (kb) in size and caused intragenic deletion in the DIS3L2 gene. ... It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in ... Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array ... The microarray finding of deletion of the DIS3L2 gene on chromosome 2q37.1 helped to confirm the clinical diagnosis of Perlman ...
Inferring the gene order of an extinct s ... Changes of gene orderings have been extensively used as a ...
  • 1% mutations within SHANK3 gene (only a small number of studies have sequenced SHANK3 , so the frequency may be underestimated). (nature.com)
  • We had been thinking of cancer as progressing from an initial mutation in a tumor-suppressor gene, followed by additional mutations that help the cancer thrive. (scienceblog.com)
  • Our work provides hard evidence that a single one of those 'additional mutations' might come first and actively provoke the mutations seen in tumor-suppressor genes. (scienceblog.com)
  • We know, for example, that within a given tumor, different cells have different mutations or versions of a gene," explains Hardwick. (scienceblog.com)
  • Furthermore, in all of the strains that they examined, they found that the secondary mutations that appeared after a given knockout were always in the same one or two genes as in their earlier observations. (scienceblog.com)
  • Pinto P, Ghosh K, Shetty S. F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association. (medscape.com)
  • The authors examined 16 patients, including 8 patients with deletions of 6p involving 6p22.3 and 8 patients with mutations of the JARID2 gene. (chromodisorder.org)
  • Dysmorphic features and anomalies of the skin occurred in patients with deletions more often than in patients with mutations. (chromodisorder.org)
  • SATB2-associated syndrome (SAS) is a disorder caused by mutations of the SATB2 gene or deletion of this gene within 2q33.1, a region within the long arm of chromosome 2. (chromodisorder.org)
  • These symptoms occur both in patients with SATB2 mutations and with 2q33.1 deletions that include the SATB2 gene. (chromodisorder.org)
  • Therefore, deletions or mutations of SATB2 cause abnormal function of these genes as well, explaining the inadequate development of these structures, leading to the symptoms above. (chromodisorder.org)
  • However, the existence of peripherin gene mutations in human ALS has not yet been documented. (nih.gov)
  • Both mutations occurred in a highly conserved region of the p53 gene that was previously found to be mutated in murine p53 oncogenes. (sciencemag.org)
  • The data suggest that p53 gene mutations may be involved in colorectal neoplasia, perhaps through inactivation of a tumor suppressor function of the wild-type p53 gene. (sciencemag.org)
  • Interest in the selection of mutations affecting L-proline catabolism in Aspergillus nidulans is heightened by the involvement of one of the very few examples of a cluster of functionally related genes in an eukaryote and by an increasing awareness of the biological phenomena in which proline and proline catabolism participate. (cambridge.org)
  • As sas A-60 is unlinked to the prn gene cluster, specifying the gene products necessary for L-proline catabolism and as L-proline, a precursor of L-glutamic γ-semialdehyde, is highly toxic to sas A-60 strains, this forms the basis of a powerful positive selection technique for obtaining a number of types of prn mutations. (cambridge.org)
  • Many of these prn mutations can be directly classified according to the gene product(s) affected on the basis of growth phenotype with respect to L-arginine and L-ornithine utilization, proline-dependent resistance to certain toxic amino acid analogues and effect on supplementation of proline auxotrophies. (cambridge.org)
  • The availability of both a positive selection technique and an extensive nutritional screening system has enabled the identification of fourteen spontaneous deletion mutations, recognized as extending into the prn B gene, specifying the principal L-proline permease, and into at least one other prn gene. (cambridge.org)
  • These deletion mutations have been partially characterized both genetically and biochemically. (cambridge.org)
  • Familial retinoblastoma is a highly penetrant genetic disease that usually develops by carrying germline mutations that inactivate one allele of the RB1 gene, leading to multiple retinoblastomas. (sigmaaldrich.com)
  • A number of point mutations within the EPCAM gene have been found to be responsible for congenital tufting enteropathy (CTE). (edu.mt)
  • To identify potential mutants for SNAP- 25, mice bearing mutations mapping to this region of Chromosome 2 were screened for Snap gene abnormalities. (jneurosci.org)
  • NPM1 deletion, hypermethylation, or mutations were not found in any of the 23 patients with isolated 5q- while loss of one copy of NPM1 was found in 7/30 patients with 5q- associated with complex karyotype. (haematologica.org)
  • The NDRG1 gene is located within this interval and NDRG1 mutations have been shown to cause hereditary motor and sensory neuropathy-Lom in humans (CMT4D). (uni-muenchen.de)
  • Abstract Heterozygous inactivating mutations in ribosomal protein genes (RPGs) are associated with hematopoietic and developmental abnormalities, activation of p53, and altered risk of cancer in humans and model organisms. (harvard.edu)
  • We suggest that large NF1 deletions (1) are not always associated with unusual clinical features, (2) tend to occur more frequently on maternal alleles, and (3) are an important mechanism for constitutional and somatic mutations in NF1 patients. (bmj.com)
  • Additionally, IKZF1 deletions and mutations identify high-risk biological subsets of childhood ALL [Georgopoulos et al. (sigmaaldrich.com)
  • NF1 patients show a wide spectrum of constitutional mutations that affect the NF1 gene. (thefreelibrary.com)
  • The remaining mutations consist of intragenic deletions/ duplications (approximately 2%) and microdeletions that span NF1 and neighboring genes (approximately 5%) (1). (thefreelibrary.com)
  • Approximately 75% of the somatic mutational spectrum of the NF1 gene in NF1associated dNFs is accounted for by point mutations (i.e., nonsense, missense, small insertion/deletion, and splicing mutations) and intragenic deletions. (thefreelibrary.com)
  • Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene. (arvojournals.org)
  • PURPOSE: To understand the pathophysiology of human retinal degenerations caused by mutations in the peripherin/RDS gene. (arvojournals.org)
  • METHODS: Three families with autosomal dominant retinal degeneration were found to have mutations in the peripherin/RDS gene. (arvojournals.org)
  • There were two frameshift mutations: a 1-base pair (bp) insertion at codon 32 and a 2-bp deletion at codon 193. (arvojournals.org)
  • CONCLUSIONS: Heterozygotes with these different peripherin/RDS gene mutations showed variation in clinical presentation but a similar pattern of receptor abnormalities. (arvojournals.org)
  • PROP1 mutation screening detected a homozygous deletion of the entire PROP1 in three patients. (hindawi.com)
  • ohns Hopkins researchers report that the deletion of any single gene in yeast cells puts pressure on the organism's genome to compensate, leading to a mutation in another gene. (scienceblog.com)
  • Hardwick says the findings call researchers to greater scrutiny in their genetic analyses because they could unwittingly attribute a phenomenon to a gene they mutated, when it is actually due to a secondary mutation. (scienceblog.com)
  • When the Hardwick team examined their genes, they found that, in addition to the originally knocked-out gene, each of the sub-strains that faltered also had a mutation in another gene, leading the team to conclude that the cells in each strain of the single-gene knockouts do not all share the same genetic sequence. (scienceblog.com)
  • Mutation in the DIS3L2 gene on chromosome 2q37, causing Perlman syndrome, was reported by Astuti et al in 2012. (dovepress.com)
  • Is the Subject Area "Deletion mutation" applicable to this article? (plos.org)
  • Mice heterozygous for the semidominant mutation coloboma (Cm/+) were identified that carried a deletion of Snap gene sequence. (jneurosci.org)
  • AVPR2 gene mutation results in the absence of the three transmembrane domains, two extracellular domains, and one cytoplasmic domain. (unboundmedicine.com)
  • Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE: Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. (karger.com)
  • Murata K, Shinkai H, Ishikiriyama S, Yamazaki M, Fukuzumi Y, Hatamochi A: A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome. (karger.com)
  • Therefore, we considered NDRG1 a positional and functional candidate gene and performed mutation analysis in affected and control Greyhounds. (uni-muenchen.de)
  • Of 67 patient/parent sets (47 new mutation patients and 20 familial cases), five (7.5%) showed loss of heterozygosity (LOH), indicative of NF1 gene deletion. (bmj.com)
  • A new international project led to the discovery of a gene mutation that reduces blood cholesterol levels and reduces the risk of atherosclerosis. (labroots.com)
  • One variant consisted of a nucleotide insertion in intron 8 (PRPH(IVS8)(-36insA)), whereas the other one consisted of a 1-bp deletion within exon 1 (PRPH(228delC)), predicting a truncated peripherin species of 85 amino acids. (nih.gov)
  • Methods and Results- Targeted deletion of the exon 4 coding sequence in the VDR gene resulted in an increase in myocyte size and left ventricular weight/body weight versus controls both at baseline and following a 7-day infusion of isoproterenol. (ahajournals.org)
  • We have identified a novel 388 bp deletion starting in intron 1 and ending in exon 2 in the AVPR2 gene in a patient with NDI and in his family. (unboundmedicine.com)
  • We have sequenced all exons and intron-exon boundaries of the AVPR2 gene of all family members. (unboundmedicine.com)
  • Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels. (broadinstitute.org)
  • A 10 bp deletion in canine NDRG1 exon 15 (c.1080_1089delTCGCCTGGAC) was perfectly associated with the polyneuropathy phenotype of Greyhound show dogs. (uni-muenchen.de)
  • To assess the physiological importance of ZnT-8, mice carrying a Slc30a8 exon 3 deletion were analyzed histologically and phenotyped for energy metabolism and pancreatic hormone secretion. (pubmedcentralcanada.ca)
  • exon 6 of the dystrophin gene was identified on the TaqI map using the polymerase chain reaction. (bmj.com)
  • Further experiments confirmed that the expression of ATDC triggers beta-catenin, a cell-signaling protein that, upon receiving the right trigger, activates genes that include SOX9-a gene that has been linked to the development of ductal stem cells and to the aggressive growth seen in PDA. (genengnews.com)
  • OBJECTIVE -The ACE insertion/deletion (I/D) polymorphism has been identified as a genetic risk factor for coronary heart disease (CHD). (diabetesjournals.org)
  • The purpose of this study was to investigate the association of the I/D polymorphism of the ACE gene with insulin sensitivity and CHD risk factors. (diabetesjournals.org)
  • The insertion/deletion (I/D) polymorphism of the ACE gene is characterized by the presence (I) or absence (D) of a 287-bp alu repeat sequence within intron 16 of the ACE gene. (diabetesjournals.org)
  • OBJECTIVE -We tested whether determination of the ACE insertion/deletion polymorphism is useful for renal and cardiovascular prognoses of type 2 diabetic subjects. (diabetesjournals.org)
  • RESEARCH DESIGN AND METHODS -The French participants (3,126 of 4,912) in the Non-Insulin-Dependent Diabetes, Hypertension, Microalbuminuria or Proteinuria, Cardiovascular Events, and Ramipril (DIABHYCAR) trial were studied for their prognosis over 4 years according to their ACE insertion/deletion polymorphism. (diabetesjournals.org)
  • We investigated the effect of the insertion/deletion polymorphism on the primary outcome in the DIABHYCAR trial (defined as the first of the following events to occur: cardiovascular death, nonfatal myocardial infarction, stroke, heart failure leading to hospital admission, or end-stage renal failure) and its components. (diabetesjournals.org)
  • CONCLUSIONS -We were not able to demonstrate the manifest usefulness of the ACE insertion/deletion polymorphism for the prognosis of type 2 diabetic subjects. (diabetesjournals.org)
  • Background -The Framingham Study recently revealed that the homozygous deletion polymorphism of the angiotensin-converting enzyme gene ( ACE DD ) is associated with increased risk for essential hypertension in a male-specific manner. (ahajournals.org)
  • Conclusions -Despite the lower frequency of the DD genotype in Japanese than in whites, the ACE gene polymorphism was associated with increased risk for hypertension, suggesting that this polymorphism is a mild but certain genetic risk factor for essential hypertension in men. (ahajournals.org)
  • 8 9 An insertion/deletion ( I/D ) polymorphism in intron 16 of ACE was significantly associated with hypertension only in men. (ahajournals.org)
  • 16 If so, the effect of gene polymorphism should be examined within a large homogeneous population. (ahajournals.org)
  • Although this polymorphism has been largely invisible to genome-wide genetic studies thus far, we describe a way to analyze it by imputation from SNP haplotypes and find among 22,288 individuals that these HP exonic deletions associate with reduced LDL and total cholesterol levels. (broadinstitute.org)
  • However, in three carcinomas, we detected homozygous deletions that overlapped at simple sequence length polymorphism marker D4MIT77 . (aacrjournals.org)
  • The five polymorphisms are analysed concomitant with screening for deletions on the TaqI map, and in the one-third of DMD/BMD cases with no detected deletion the polymorphism information may be used for counselling. (bmj.com)
  • Conclusions: The results reveal that homozygous null polymorphism of GSTM1 and GSTT1 genes does not influence ALL susceptibility among adult patients. (thefreelibrary.com)
  • European researchers have discovered how a gene that has previously been implicated in cancer plays a key role in certain regions of the brain in the control of cocaine addiction in mice. (genengnews.com)
  • The ULB researchers and collaborators in Belgium, Italy, France, and Spain describe their findings in a paper titled, " Deletion of Maged1 in mice abolishes locomotor and reinforcing effects of cocaine . (genengnews.com)
  • neither mice with Maged1 deletion in PFC, nor those with deletion in amygdala showed any significant alteration in the ability to self-administer cocaine," the team writes. (genengnews.com)
  • New research finds that the deletion of the ataxia-telangiectasia group D-complementing (Atdc) gene, whose human homolog is up-regulated in the majority of pancreatic cancer cases, completely prevents the development of tumors in mice. (genengnews.com)
  • We found that deleting the ATDC gene in pancreatic cells resulted in one of the most profound blocks of tumor formation ever observed in a well-known mice model engineered to develop pancreatic ductal adenocarcinoma, or PDA, which faithfully mimics the human disease," says Diane Simeone, MD, director of the Pancreatic Cancer Center of NYU Langone Health's Perlmutter Cancer Center. (genengnews.com)
  • Specifically, mutant KRAS and other genetic abnormalities induced aggressive pancreatic cancer in 100% of study mice when the ATDC gene was present, but in none of the same cancer-prone mice lacking the gene, suggesting that mice lacking ATDC are protected from developing PDA. (genengnews.com)
  • Scientists working with mice have found that by removing a single gene they can turn normally cautious animals into daring ones, mice that are more willing to explore unknown territory and less intimidated by sights and sounds that they have learned can be dangerous. (biopsychiatry.com)
  • Using genetic engineering, the scientists removed the gene from mice and bred a line of the animals, all missing the same gene. (biopsychiatry.com)
  • To be sure that it was the gene change and not some other quality that explained the differences, the researchers tested hearing and pain sensitivity in the altered mice. (biopsychiatry.com)
  • We generated mice that possess a heterozygous deletion of the PTG gene. (jci.org)
  • To explore the role of interleukin-2 (IL-2) in T cell proliferation, and to circumvent the IL-2 deficiency autoimmune syndrome of conventional il2 gene deletion, mice were created to allow conditional il2 gene deletion when treated with the estrogen analog, tamoxifen (TAM) as adults. (frontiersin.org)
  • The absence of this single gene, called p21 , confers a healing potential in mice long thought to have been lost through evolution and reserved for creatures like flatworms, sponges, and some species of salamander. (fightaging.org)
  • The determination of a single gene of interest in this matter will lead researchers to investigate a narrow range of potential underlying mechanisms in order to explain why the MRL mice heal as they do. (fightaging.org)
  • These knockout mice demonstrated a reduction in end-diastolic and end-systolic volume by echocardiography, activation of the fetal gene program (ie, increased atrial natriuretic peptide and alpha skeletal actin gene expression), and increased expression of modulatory calcineurin inhibitory protein 1 (MCIP1), a direct downstream target of calcineurin/nuclear factor of activated T cell signaling. (ahajournals.org)
  • For their study, the investigators deleted the CHD1 gene in mice, which led to the growth of prostate cancer tumors. (healthcanal.com)
  • Analysis of genomic DNA revealed that the Snap gene dosage in Cm/+ mice was 50% lower than control littermates. (jneurosci.org)
  • The localization of the genetic abnormality in coloboma mice using the Snap gene marker will provide a powerful tool for studying the biologic basis of locomotor hyperactivity. (jneurosci.org)
  • To address objective 3, mice will be exposed by intragastric gavage to the high allergenic and low allergenic proteins, and mRNA from spleen, mesenteric lymph node and intestine will be collected for gene expression profiling using microarrays. (epa.gov)
  • Comparison of gene expression between highly allergenic protein-treated and low allergenic protein-treated mice should identify changes in gene expression that are specific for responses to food allergens. (epa.gov)
  • The proposed mouse model uses oral exposure without adjuvants and requires a relatively easy, short exposure protocol as a result of the availability of sensitive biomarkers for rapid detection of gene-expression changes in the exposed mice. (epa.gov)
  • Rapgef6 deletion mice were most impaired in hippocampal and amygdalar function, brain regions implicated in schizophrenia pathophysiology. (harvard.edu)
  • We addressed this issue in mice carrying a deletion of the gene encoding MyD88, the key intracellular adaptor molecule in Toll-like and interleukin-1 family receptor signaling. (diva-portal.org)
  • In adult mice, IL-1α deletion is accompanied by increased oligodendrocyte survival after SCI. (wingsforlife.com)
  • In conclusion, heterozygous deletion of the LRP5 gene in mice could alter the profile of the immune cells, influence the balance of immune environment, and modulate bone homeostasis, which might present a potential mechanism to explore the Wnt signaling pathway in the modulation of the immune system. (go.jp)
  • Effects of deletion of gria1 or gria2 genes encoding glutamatergic AMPA-receptor subunits on place preference conditioning in mice. (biomedsearch.com)
  • These mice (designated " Cpr -low and liver- Cpr -null" or CL-LCN) retain the respective phenotypes of the previously reported Cpr -low (CL) and liver- Cpr -null (LCN) mouse strains, but hepatic deletion of the Cpr gene occurs at an earlier age in the CL-LCN mouse than in the LCN mouse. (aspetjournals.org)
  • CL mice, which have decreased CPR expression in all tissues examined due to the insertion of a neo gene in the Cpr intron 15, are potentially useful for studying the involvement of extrahepatic tissue P450s in drug metabolism. (aspetjournals.org)
  • Here, we describe an integrated methodological approach that allows predetermined chromosomal deletions to be achieved in the genome of mouse embryonic stell cells in vivo and in vitro and, at the same time, to recover intervening sequences in a clonable form. (nature.com)
  • Although ORF replacement was previously verified for each strain by several PCR amplifications ( 1 ), the identity of the 20-mer tag identifiers (see also the Yeast Deletion Project web site, http://sequence-www.stanford.edu/group/yeast_deletion_project ), 17- to 19-mer common primer sequences and the sequence of both recombination junctions in the yeast genome of each gene-deletion strain were not previously confirmed by direct sequencing. (pnas.org)
  • In fact, she said she believes that "essentially any gene, when mutated, has the power to alter other genes in the genome. (scienceblog.com)
  • Using this technique, we deleted the lipase locus in the C. parapsilosis genome consisting of adjacent genes CpLIP1 and CpLIP2. (jci.org)
  • A previous whole-genome association analysis identified lysine demethylase 6A ( KDM6A ), which encodes a type of histone demethylase, as a candidate gene associated to goat fecundity. (frontiersin.org)
  • Little is known about the role of the different genes located in 22q11.2, and we hypothesized that genetic risk factors lying elsewhere in the genome might contribute to the phenotype. (springer.com)
  • Here, we present the whole-genome gene expression data of 11 patients with approximately 3 Mb deletions. (springer.com)
  • When genes mapped to other chromosomes were considered in the gene expression analysis, a genome-wide dysregulation was observed, with increased or decreased expression levels. (springer.com)
  • Researchers sequenced each genome, looking for any sign that certain genes worsened or alleviated the tendency for a person to develop atherosclerosis. (labroots.com)
  • strain SYK-6 ( 15 ), we failed to reproducibly obtain mutants using existing sacB -based markerless gene deletion systems ( 13 , 25 ) in Sphingomonas sp. (asm.org)
  • I know that counterselectable markers are often instrumental for the construction of mutants when under appropriate growth conditions, a counterselectable gene promotes the death of the microorganisms harboring it. (protocol-online.org)
  • Does anyone knows an alternative selection for my mutants (without antibiotics) or an alternative protocol for gene deletion? (biology-online.org)
  • Unexpectedly, using green fluorescent protein-tagged full-length virus and deletion mutants (CTV9∆p33 and CTV9∆p33∆p18∆p13), the virus was found at pitted areas in abnormal locations outside the normal ring of phloem. (unl.edu)
  • Recombinant viruses with mutant polyhedrin genes were obtained by selecting the progeny virus that did not produce viral occlusions in infected cells (occlusion-negative mutants). (asm.org)
  • Analyses of occlusion-negative mutants demonstrated that the polyhedrin gene was not essential for the production of infectious virus and that deletion of certain sequences within the gene did not alter the control, or decrease the level of expression, of polyhedrin. (asm.org)
  • The genetic operation wherein a gene from the parent's DNA is removed from the offspring's DNA . (everything2.com)
  • We performed genetic analysis of PROP1 gene in a Turkish pedigree with three siblings who presented with short stature. (hindawi.com)
  • In genetic analysis, we found a gross deletion involving PROP1 coding region. (hindawi.com)
  • David Collier said "Although deletions in neurexin 1 are rare, they increase the risk of schizophrenia by ten-fold, a much higher risk than had been expected for genetic factors predisposing for this disorder. (kcl.ac.uk)
  • Individual deletion strains have recently been created for 5,918 ORFs, representing nearly all of the estimated 6,000 genetic loci ( 1 ). (pnas.org)
  • Deleting the first gene seems to cause a biological imbalance that is sufficient to provoke additional adaptive genetic changes, she explains. (scienceblog.com)
  • Genetic analysis of healthy individuals confirmed the expected presence of two copies, or alleles, of the gene for osteoprotegerin. (innovations-report.com)
  • Genetic studies of sphingomonads have suffered from a limited number of genetic tools, e.g., the lack of a markerless gene deletion and allelic exchange system. (asm.org)
  • 1 2 3 Studies of the renin-angiotensin system have shown that several genetic variants of the angiotensinogen gene ( AGT ) play a role in increasing risk for hypertension. (ahajournals.org)
  • A new study suggests that detecting this genetic deletion during the initial evaluation of children with neuroblastoma may indicate to physicians that they should recommend a more aggressive regimen of chemotherapy to fight the cancer. (bio-medicine.org)
  • The deletion of genetic material on chromosome 11 may account for a significant percentage of these high-risk neuroblastomas," said Dr. Attiyeh. (bio-medicine.org)
  • Using transgenic experiments we show that deletion of the conserved 3′ UTR element increases adult and larval Adh expression in both the ADH-F and ADH-S genetic backgrounds. (genetics.org)
  • In human genetic studies of schizophrenia, we uncovered copy-number variants in RAPGEF6 and RAPGEF2 genes. (harvard.edu)
  • Genetic and molecular studies have implicated the region of the α-interferon gene cluster on mouse chromosome 4 as the location of a putative tumor suppressor gene. (aacrjournals.org)
  • 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. (malacards.org)
  • Probe-based quantitative PCR assay for detecting constitutional and somatic deletions in the NF1 gene: application to genetic testing and tumor analysis. (thefreelibrary.com)
  • Phelan-McDermid syndrome/22q13 deletion syndrome/chromosome 22q13.3 deletion syndrome/telomeric 22q13 monosomy syndrome. (nature.com)
  • Phelan-McDermid syndrome can result from simple 22q13 deletions, ring chromosomes and unbalanced translocations. (nature.com)
  • To date, 6 cases with a deletion of 9.1-20 Mb involving the FOXP2 gene have been reported, suggesting a new contiguous gene deletion syndrome characterized mainly by CAS caused by haploinsufficiency of the genes encompassed in the 7q critical region. (aappublications.org)
  • Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH). (dovepress.com)
  • 3 Subsequently, few more cases of Perlman syndrome were reported with the deletion of the DIS3L2 gene and further detailing of its role in RNA metabolism. (dovepress.com)
  • The syndrome is caused by heterozygous contiguous gene deletions of variable size on chromosome 11, involving a region that encompasses more than 100 genes, many of which have unknown function in humans. (clinicaltrials.gov)
  • In our preliminary studies, we have observed that approximately two-thirds of patients with WAGR syndrome have deletion of the gene which encodes brain-derived neurotrophic factor (BDNF), and that BDNF haploinsufficiency is associated with obesity and with parent reports of hyperphagia and impaired nociception, suggesting that BDNF may play an important role in human energy balance as well as pain sensation. (clinicaltrials.gov)
  • We now propose to conduct a comprehensive clinical phenotype-genotype study on patients with WAGR syndrome and other 11p deletions. (clinicaltrials.gov)
  • The phenotype was shown to be associated with a deletion of exons 6-8 of the X-linked NSDHL gene, confirming that CHILD syndrome is due to loss of function of an enzyme involved in cholesterol biosynthesis. (karger.com)
  • TBX1 is the major candidate gene for 22q11.2 deletion syndrome (22q11.2DS), a chromosomal deletion disorder characterized by a greatly increased risk for schizophrenia. (ovid.com)
  • 2q37 Deletion Syndrome, also known as albright hereditary osteodystrophy-like syndrome , is related to chromosome 2q37 deletion syndrome . (malacards.org)
  • 25 2q37 deletion syndrome is a condition that can affect many parts of the body. (malacards.org)
  • 72 2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2.2q37. (malacards.org)
  • The 22q11.2 deletion syndrome (22q11.2DS) is caused by recurrent hemizygous deletions of chromosome 22q11.2. (springer.com)
  • These findings, combined with the traditional gene expression profile, can be used for the identification of potential pathways and genes not previously considered to be related to the 22q11.2 deletion syndrome. (springer.com)
  • Bassett AS, Chow EW (2008) Schizophrenia and 22q11.2 deletion syndrome. (springer.com)
  • Bertini V, Azzara A, Legitimo A, Milone R, Battini R, Consolini R, Valetto A (2017) Deletion extents are not the cause of clinical variability in 22q11.2 deletion syndrome: does the interaction between DGCR8 and miRNA-CNVs play a major role? (springer.com)
  • Bittel DC, Yu S, Newkirk H, Kibiryeva N, Holt A III, Butler MG, Cooley LD (2009) Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. (springer.com)
  • features that often occur in people with distal chromosome 18q deletion syndrome include developmental delay, intellectual disability, behavioral problems and distinctive facial features. (malacards.org)
  • Distal Chromosome 18q Deletion Syndrome, also known as deletion of long arm of chromosome 18 , is related to chromosome 18p deletion syndrome and chromosome 18q deletion syndrome , and has symptoms including seizures , tremor and joint laxity . (malacards.org)
  • 25 Distal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. (malacards.org)
  • Distal 18q deletion syndrome can lead to a wide variety of signs and symptoms among affected individuals. (malacards.org)
  • Chromosome 17p13.1 deletion syndrome is a protein in humans that is encoded by the DEL17P13.1 gene. (wikipedia.org)
  • Homologous recombination into sites flanking Nf-1 was used to introduce artificial sequences (triple-helix, loxP, vector backbone) that can be employed for in vitro recovery of intervening sequences or the generation of in vivo deletions. (nature.com)
  • Two consecutive homologous recombination events introduced the desired artificial sequences at markers D11Bhm100 and D11Bhm109, flanking the Nf-1 gene at either end ( Figure 1a ). (nature.com)
  • Finally, the deletion cassette was integrated into the yeast chromosome by homologous recombination. (pnas.org)
  • A stable chromosomal deletion in the ldhL gene was then constructed in L. plantarum by a two-step homologous recombination process. (asm.org)
  • Markerless gene deletion systems follow a two-step homologous recombination strategy that involves successive selection and counterselection ( 28 ). (asm.org)
  • The method proceeds by homologous recombination between a gene on the chromosome and homologous sequences carried on a plasmid temperature sensitive for DNA replication. (asm.org)
  • Approximately 90% of NF1 microdeletions (Types-1, -2, and -3) are recurrent and arise via nonallelic homologous recombination between low-copyrepeats (REPs), which are paralogous regions flanking the NF1 gene. (thefreelibrary.com)
  • It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. (dovepress.com)
  • Translocation breakpoint analysis using FISH and high-resolution microarray comparative genomic hybridization (CGH) has identified a 9.66 Mb deleted region on the long arm of chromosome 14 which includes the genes BMP4, OTX2, RTN1, SIX6, SIX1, and SIX4. (ovid.com)
  • Incorporation of strain-specific synthetic DNA tags into yeast Saccharomyces cerevisiae gene-deletion strains has enabled identification of gene functions by massively parallel growth rate analysis. (pnas.org)
  • The yeast Saccharomyces cerevisiae is a particularly powerful experimental system, because multiple deletion strains can easily be pooled for parallel growth assays. (pnas.org)
  • Her team started with a readily available collection of thousands of different yeast strains, each with a different gene knockout. (scienceblog.com)
  • At their preferred temperature, each of these strains of yeast grows robustly even though they each have a different gene missing. (scienceblog.com)
  • They then tested all 5,000 of the original single-gene knockout strains to find sub-strains that could overgrow when given low-nutrient food - a trait that tumor cells often possess. (scienceblog.com)
  • I would like to delete some genes in those strains using the 'One step inactivation of chromosomal genes' (Datsenko and Wanner, 2000). (biology-online.org)
  • Maybe I wasn't clear enought but I want to delete genes in my drug-multiresistants strains without changing the rest of the bacterial strain. (biology-online.org)
  • Y1 is the sole Aα gene in Aα1 strains. (genetics.org)
  • To characterize the role of the Aα genes in the regulation of sexual development, we transformed various Aα Y and Z alleles into AαΔ strains and examined the acquired mating types and mating abilities of the transformants. (genetics.org)
  • The homozygous yeast deletion library includes approximately 4800 diploid strains each containing one deleted non-essential gene. (biomedcentral.com)
  • Published reports examining glucose metabolism in persons who are homozygous for the deletion allele (DD), compared with the heterozygote (ID) and homozygote insertion (II) genotypes, demonstrate conflicting findings. (diabetesjournals.org)
  • RESULTS -In DIABHYCAR, the primary outcome and most of its components were not affected by the ACE insertion/deletion genotype. (diabetesjournals.org)
  • In this study, goat KDM6A mRNA expression profiles were determined, insertion/deletion (indel) variants in the gene identified, indel variants effect on KDM6A gene expression assessed, and their association with first-born litter size analyzed in 2326 healthy female Shaanbei white cashmere goats. (frontiersin.org)
  • Gene insertion and deletion are considered as the basic operations in DNA processing and RNA editing. (inria.fr)
  • Based on these evolutionary transformations, a computing model has been formulated in formal language theory known as insertion-deletion systems. (inria.fr)
  • Recently, in [6], a new computing model named Matrix insertion-deletion system has been introduced to model various bio-molecular structures such as hairpin, stem and loop, pseudoknot, attenuator, cloverleaf, dumbbell that occur at intramolecular level. (inria.fr)
  • In this paper, we model some of the intermolecular structures such as double strand languages, nick languages, hybrid molecules (with R-loops), holliday structure, replication fork and linear hybridization (ligated) languages using Matrix insertion-deletion system. (inria.fr)
  • We further classify the ambiguity into many levels based on the components axiom, string (order of deletion/insertion) and contexts (order of the used contexts). (inria.fr)
  • While GM foods are not inherently less safe than conventional foods, the insertion of genes from a wide variety of sources creates the potential for new food allergens. (epa.gov)
  • Evidence for gene duplications and rearrangements resulting from the insertion of gene units at new locations is also presented. (asm.org)
  • The robust performance of the yeast gene-deletion dual oligonucleotide bar-code design in array hybridization validates the use of molecular bar codes in living cells for tracking their growth phenotype. (pnas.org)
  • Despite the presence of the deletion in only 50% of cells, the phenotype of the patient was not milder than other published cases. (aappublications.org)
  • EpCAM staining was negative in the whole cohort1, suggesting a defective EPCAM gene in the milder phenotype. (edu.mt)
  • Three other patients with interstitial deletions involving 14q22-23 have been described, all with bilateral anophthalmia, pituitary abnormalities, ear anomalies, and a facial phenotype similar to our patient. (ovid.com)
  • OTX2 is involved in ocular developmental defects, and the severity of the ocular phenotype in our patient and the other 14q22-23 deletion patients, suggests this genomic region harbors other gene/s involved in ocular development. (ovid.com)
  • A detailed complementation analysis using these five deletions revealed that the c5FR60Hg, c2YPSj and c11DSD deletions could partially complement the phenotype produced by the c4FR60Hd and c6H deletions in any combination. (biologists.org)
  • These results suggest that the stem-pitting phenotype, which is one of more economically important disease phenotypes, can result not from a specific sequence or protein but from a balance between the expression of different viral genes. (unl.edu)
  • Geneset comparisons have been performed for each phenotype against all others to identify common genes. (biomedcentral.com)
  • Approximately 40 f Caucasians lack GSTM1 activity due to a homozygous deletion of the GSTM1 locus on chromosome 1p13 (GSTM1 0/0 genotype). (wur.nl)
  • We identified 480 persons with positive thick smears for asexual Plasmodium falciparum parasites, of whom 454 had positive rapid diagnostic tests (RDTs) for the histidine-rich protein 2 (HRP2) product of the hrp2 gene and 26 had negative tests. (ajtmh.org)
  • Deletion of histidine-rich protein genes pfhrp2/3 in Plasmodium falciparum causes infections to go undetected by HRP2-based malaria rapid diagnostic tests. (cdc.gov)
  • Plasmodium falciparum parasites with histidine-rich protein 2 ( pfhrp2 ) and pfhrp3 gene deletions in two endemic regions of Kenya. (cdc.gov)
  • However, using conventional methods of gene inactivation in the mouse, deletions in the megabase range are still difficult to reproduce. (nature.com)
  • Inactivation of the gene resulted in the absence of L-LDH activity and in exclusive production of the D isomer of lactate. (asm.org)
  • Such a system is advantageous over existing methods for insertional gene inactivation or gene replacement in that it avoids polar effects on the expression of downstream genes and allows recycling of the antibiotic resistance marker. (asm.org)
  • The ACE gene regulates vascular tone through the activation of angiotensin II, a potent vasoconstrictor ( 1 , 2 ), and inactivation of bradykinin ( 3 ), a nonapeptide belonging to a class of active peptides (kinins) that are released from tissue to produce a variety of effects, including arterial vasodilatation and venoconstriction ( 4 ). (diabetesjournals.org)
  • Retinoblastoma is a non-hereditary as well as an inherited pediatric tumor of the developing retina resulting from the inactivation of both copies of the RB1 tumor suppressor gene. (sigmaaldrich.com)
  • A key event in the initiation of neurofibroma development is biallelic inactivation of the NF1 gene (13-15). (thefreelibrary.com)
  • dNFs are composed of different cell types, but only Schwann cells (SCs) bear a double inactivation of the NF1 gene (16-18). (thefreelibrary.com)
  • These primers begin at the 5′-end with 18 (or 17) bp of genomic sequence, followed by a bar code comprised of 18 bp of sequence (U1 or D1) common to all deletion constructs, a unique 20-mer tag, and 18 (or 19) bp of sequence (U2 or D2) homologous to the KanMX gene. (pnas.org)
  • Although multiple karyotypes were reported as normal, a bacterial artificial chromosome array comparative genomic hybridization revealed the presence of a de novo 14.8-Mb mosaic deletion of chromosome 7q31. (aappublications.org)
  • This report suggests that children found with a deletion involving the FOXP2 region should be evaluated for CAS and that analysis of the FOXP2 gene including array comparative genomic hybridization should be considered in selected patients with CAS. (aappublications.org)
  • Genomic alteration of the PTEN gene in SD07. (wiley.com)
  • AαΔ) strain by replacing the genomic Y1 gene with URA1 in an Aα1 strain. (genetics.org)
  • The remainder (approximately 25%) present as a loss of heterozygosity in large genomic regions that include the NF1 gene (19, 20). (thefreelibrary.com)
  • The mechanistic causes of loss of heterozygosity are mitotic recombination in 62% of cases and genomic deletions of 80 kb to 8 Mb in the remaining 38% (20). (thefreelibrary.com)
  • To date, NF1 constitutional deletions have been identified with multiple techniques, such as microsatellite analysis with intragenic markers (21-23), interphase fluorescence in situ hybridization (FISH) analysis via the use of probes within and flanking the NF1 gene (11,22,24,25), multiplex ligation-dependent probe amplification (MLPA) with commerciallyavailable kits (23, 26), and arraycomparative genomic hybridization (27). (thefreelibrary.com)
  • A study at The University of Texas MD Anderson Cancer Center believes their survival may be due to deficiency of a tumor suppressor gene called quaking (QKI), a potential new target for therapies. (eurekalert.org)
  • A region of homology on human chromosome 9p21-22 that is frequently deleted in multiple human cancers has recently been found to contain a candidate tumor suppressor gene called multiple tumor suppressor-1 ( MTS1 ), which was previously shown to encode an inhibitor of cyclin-dependent kinase 4. (aacrjournals.org)
  • These data suggest a critical region of about 2 cM immediately distal to the α-interferon locus as the likely domain of a novel tumor suppressor gene on mouse chromosome 4, the loss of which appears to be involved in the progression of mouse lung tumorigenesis. (aacrjournals.org)
  • NG 009018.1), a tumor suppressor gene located at 17q11.2. (thefreelibrary.com)
  • After the second targeting, the telomeric D11Bhm109 sequence (located downstream of the Nf-1 gene) is supplied with a loxP sequence and a hygromycin resistance gene. (nature.com)
  • For each strain, the ORF was replaced and tagged by mitotic recombination with the selectable resistance gene KanMX cassette, which is linked to one or two unique 20-mer sequence tags (UPTAG and DNTAG) that are flanked on both sides by common primer sequences (U1 and U2 for UPTAG, D1 and D2 for DNTAG) that vary in length by design from 17 to 19 nt ( 2 ) ( Fig. 1 ). (pnas.org)
  • We also identified interchromosomal gene conversion involving HR and MMEJ at different ends of a duplicated sequence. (nih.gov)
  • The nucleotide sequence of the ldhL gene predicted a protein of 320 amino acids closely related to that of Lactobacillus pentosus. (asm.org)
  • Therefore, we screened for sequence variants of the peripherin gene (PRPH) in a cohort of ALS patients including familial and sporadic cases. (nih.gov)
  • 1,25(OH) 2 D functions as a ligand for the nuclear vitamin D receptor (VDR) which, when paired with its heterodimeric retinoid X receptor partner, binds to sequence-specific recognition elements on DNA and stimulates or represses transcription of contiguous genes. (ahajournals.org)
  • Proteins with sequence similarity to DinB have been predicted from genes cloned from various prokaryotic and eukaryotic organisms, including Caenorhabditis elegans . (springer.com)
  • Sequence analysis identified a 13-bp deletion in the Ctns gene, leading to a truncated and loss-of-function protein, which cause cystine accumulation in various tissues. (springer.com)
  • In [2], the ambiguity in gene sequence was defined as deriving more than one structure for a single gene sequence. (inria.fr)
  • Here, we propose a different view of understanding the ambiguity in gene sequences: A gene sequence is obtained by more than one way such that their intermediate sequences are different. (inria.fr)
  • Both deletions and duplications can be generated by integrase-mediated cointegrate formation followed by integrase-mediated resolution involving a different pair of sites. (asm.org)
  • CTV has three nonconserved genes (p33, p18, and p13) that are not related to genes of other viruses and that are not required for systemic infection of some species of citrus, which allowed us to examine the effect of deletions of these genes on symptom phenotypes. (unl.edu)
  • The most commonly occurring genes in all of the stored phenotypes are highly over-represented in the GO slim term "cellular ion homeostasis" indicating that genes shared between phenotypes may highlight a common cellular response. (biomedcentral.com)
  • A gene (designated ldhL) that encodes L-(+)-lactate dehydrogenase from L. plantarum DG301 was cloned by complementation in Escherichia coli. (asm.org)
  • The dinB gene of Escherichia coli is an SOS-inducible gene of unknown function. (springer.com)
  • New method for generating deletions and gene replacements in Escherichia coli. (asm.org)
  • All five deletions were de novo and occurred on the maternal chromosome. (bmj.com)
  • RPGs are conserved with respect to homozygous deletions, and shRNA screening data from 174 cell lines demonstrate that further suppression of hemizygously deleted RPGs inhibits cell growth. (harvard.edu)
  • Although not contained within any common deleted region on 5q, NPM1 can be deleted in 5q- cases with large chromosomal deletions. (haematologica.org)
  • Small terminal or interstitial deletions of 22q13 will not be detected by FISH unless this region of chromosome 22 is targeted by probes specific for SHANK3 or other loci within the deleted region. (nature.com)
  • Twenty chromosome 17p markers were used to localize the common region of deletion in these tumors to a region contained within bands 17p12 to 17p13.3. (sciencemag.org)
  • these two tumors, like most colorectal carcinomas, had allelic deletions of chromosome 17p and expressed considerable amounts of p53 messenger RNA from the remaining allele. (sciencemag.org)
  • The interesting aspect of CHD1 deletion is that it seems to only occur in tumors that develop from the prostate," said lead author Dr. Michael Augello, a post-doctoral fellow and Prostate Cancer Foundation Young Investigator in Dr. Barbieri's lab. (healthcanal.com)
  • About 15 percent of men with prostate cancer have a CHD1 deletion in their tumors. (healthcanal.com)
  • They also studied human prostate cancer cell lines in which the gene was deleted and confirmed their findings about the effect of CHD1 deletion on androgen receptors by analyzing data from a large number of human prostate tumors. (healthcanal.com)
  • We performed loss of heterozygosity and deletion analyses to map the most commonly deleted region on chromosome 4 in F 1 hybrid mouse lung tumors. (aacrjournals.org)
  • In contrast, we did not see negative selection of RPG deletions in TP53‐mutant tumors. (harvard.edu)
  • Deletions of the NF1 gene also occur somatically, e.g., in tumors such as dNFs arising in patients with NF1. (thefreelibrary.com)
  • A simple and efficient method for direct gene deletion in Saccharomyces cerevisiae. (nih.gov)
  • This paper describes the Saccharomyces cerevisiae Homozygous Deletion Library Tools ( Sc Ho DeLiTo-96) which is built upon a database of results taken from over 100 and 50 published papers that report deletion library screens using the 96-well plate method. (biomedcentral.com)
  • Studies in which the Maged1 gene was deleted in specific regions of the brain indicated that the development of cocaine sensitization required Maged1 expression in the prefrontal cortex (PFC) and amygdala regions of the brain specifically. (genengnews.com)
  • ATDC gene expression increased a few days later after exposure, in line with the timeframe required for acinar cells to reprogram genetically into their ductal cell forebears. (genengnews.com)
  • A multicopy plasmid bearing the ldhL gene without modification of its expression signals was introduced in L. plantarum. (asm.org)
  • SD07 is the first case in which it is proven that the loss of CD20 expression in relapsed DLBCL is the result of deletion of the CD20 gene. (wiley.com)
  • In particular their use has greatly facilitated fine-structure mapping of the prn cluster and aided studies of the regulation of prn gene expression. (cambridge.org)
  • A combination of bioinformatics, gene expression and targeted gene replacement analyses were used to define the boundaries of the PAX gene cluster. (mdpi.com)
  • Consistently, the 16 bp indel also had a significant effect on KDM6A gene expression. (frontiersin.org)
  • Gene expression profiling was performed using a Taqman Gene Expression Assay (Cat#4331182, SEC16A-Hs00389570_m1, GAPDH-Hs99999905_M1) and protein expression was assessed using Western analysis using a commercial SEC16A antibody. (bmj.com)
  • The in-frame deletion had no significant impact on gene or protein expression. (bmj.com)
  • Although this in-frame deletion had no significant impact on gene or protein expression, a detrimental impact on protein structure of SEC16A remains a possibility and is currently under investigation. (bmj.com)
  • The goal of the research is to develop an improved animal model to test for food allergies and to identify changes in gene expression that can serve as early biomarkers for the detection of food allergy. (epa.gov)
  • We further show that these deletions, and a SNP that affects HP expression, appear to drive the strong association of cholesterol levels with SNPs near HP. (broadinstitute.org)
  • Apart from the hemizygous genes mapped to the 22q11.2 region, the TUBA8 and GNAZ genes, neighboring the deleted interval but in normal copy number, showed altered expression. (springer.com)
  • We also used the hypothesis-free weighted gene co-expression network analysis (WGCNA), which revealed the co-expression gene network modules with clear connection to mechanisms associated with 22q11.2DS such as immune response and schizophrenia. (springer.com)
  • 2 ] had suggested that expression of the Slc30a8 gene, which encodes the zinc transporter ZnT-8, is restricted to pancreatic islets, specifically insulin secreting beta cells, but recent data suggest that it is also expressed in glucagon secreting alpha cells [ 3 ]. (pubmedcentralcanada.ca)
  • Ikaros deletions in BCR-ABL-negative childhood acute lymphoblastic leukemia are associated with a distinct gene expression signature but do not result in intrinsic chemoresistance. (sigmaaldrich.com)
  • To discover the underlying pathways modulated by Ikaros we performed gene expression and gene ontology analysis in IKZF1 deleted primary B-ALL pediatric patient samples. (sigmaaldrich.com)
  • We report a specific gene expression signature of 735 up-regulated and 473 down-regulated genes in IKZF1 deleted primary B-ALL pediatric patient samples. (sigmaaldrich.com)
  • No parasites with pfhrp2/3 double deletions were detected. (cdc.gov)
  • Parasite deletion of the genes pfhrp2 and pfhrp3 has been implicated in false-negative results using HRP2-based RDTs. (cdc.gov)
  • Such deletions range from small intragenic deletions to loss of large chromosomal regions encompassing thousands of genes. (nature.com)
  • A set of neurofibromatosis type 1 (NF1) patients was screened for large NF1 gene deletions by comparing patient and parent genotypes at 10 intragenic polymorphic loci. (bmj.com)
  • UV-induced locus-specific reversion of an ochre allele ( arg4-17) is reduced in the rad30 deletion mutant. (springer.com)
  • A recessively acting locus responsible for urinary glucose excretion ( ugl ) was mapped to a 7.9 Mb region of chromosome 10, which contains the cystinosin ( Ctns ) gene. (springer.com)
  • In total, 21 genes have been identified at the PAX locus of which six have been previously confirmed to have a functional role in paxilline biosynthesis. (mdpi.com)
  • A major locus for high blood pressure (BP/SP1) is located on rat chromosome 10, which contains the rat angiotensin-converting enzyme gene ( ACE ) locus, according to several rat crosses between a genetically hypertensive rat strain and normotensive controls. (ahajournals.org)
  • Analysis of the corresponding SRK-A10 cDNA showed that it was very similar to other S locus receptor kinase genes and was expressed predominantly in the stigma. (plantcell.org)
  • To investigate haploinsufficiency of NPM1 in myeloid malignancies with 5q- aberration, we analyzed the NPM1 gene in terms of mutational and methylation status and presence of deletions in 53 patients with MDS or secondary AML (sAML) carrying the 5q- abnormality as a sole chromosomal alteration or associated with additional chromosome defects. (haematologica.org)
  • The analyses of bioinformatics and comparative genomics of the deletion were done via considering the DNA level damage. (unboundmedicine.com)
  • Amongst these, ScHo DeLiTo-96 fills a niche to address browsing and analyses of datasets derived from the homozygous diploid deletion library. (biomedcentral.com)
  • This indicates that contiguous gene deletion may contribute to the phenotypic features in the 14q22-23 deletion patients. (ovid.com)
  • Our deletion strategy extends these findings by incorporating the facility to recover intervening sequences in clonable form. (nature.com)
  • Tagging of each deletion strain with one or two unique 20-nt sequences allows identification of genes affected by specific growth conditions without prior knowledge of gene functions ( 2 ). (pnas.org)
  • In the first round of PCR, upstream and downstream 74-mer primers were used to amplify the KanMX gene (from pF-kanMX4) and to incorporate the two bar-code sequences into the deletion cassette. (pnas.org)
  • The TUB sequences flanking the R s P cassette promote R s P pre-mRNA trans-splicing and polyadenylation and also allow ectopic HR which replaces R s P with an α TUB gene copied from chromosome 1. (nih.gov)
  • Southern and Northern blot hybridization experiments provided no evidence for gross alterations of the p53 gene or surrounding sequences. (sciencemag.org)
  • This confirms the recent definition of gene cassettes as consisting of the gene coding sequences, all except the last 7 bases of the 59-base element found at the 3' end of the gene, and the core site located 5' to the gene (Hall et al. (asm.org)
  • transOMIC technologies uses algorithms to choose the 3 highest scoring gRNA sequences appropriate for your Cas9 with the least chance of off target effects, closest to the 5' end of the gene (unless otherwise required) to create the DNA breaks around the area intended to be mutated or tagged. (biocat.com)
  • Most sphingomonads are naturally streptomycin resistant ( 31 ), and we therefore questioned (i) whether this property resided within the rpsL gene and, if so, (ii) whether it could be exploited to construct a dominant, streptomycin-sensitive allele for use as a counterselectable marker in wild-type sphingomonads. (asm.org)
  • The deletion (D) allele of the ACE gene may be associated with higher insulin sensitivity. (diabetesjournals.org)
  • however, women who are homozygous for the D allele of the ACE gene are more insulin sensitive, whereas women who are homozygous for the I allele of the ACE gene have greater insulin resistance and potential risk for type 2 diabetes. (diabetesjournals.org)
  • After quality control, we determined autosomal copy number variants (such as deletions) on the basis of median log2 ratios and B-allele frequency patterns. (asnjournals.org)
  • Described here is a method for targeted, markerless gene deletion in Chlamydia trachomatis using floxed cassette allelic exchange mutagenesis, FLAEM. (jove.com)
  • Gene therapy to create daredevil warriors is likely to remain the province of screenwriters, but the new findings may help researchers design novel drugs to treat a wide array of conditions, from disabling anxiety in social settings to the sudden flights of poisoned memory that can persist in the wake of a disaster, an attack or the horror of combat. (biopsychiatry.com)
  • The findings , published March 28 in Cancer Cell, suggest that the gene, once deleted, helps to promote tumorous growth. (healthcanal.com)
  • The implications of these findings in understanding the evolution of integrons and the spread of antibiotic resistance genes in bacterial populations is discussed. (asm.org)
  • Conclusions: This study confirms the findings that a germline homozygous deletion of the GSTM1 gene predisposes to bladder cancer. (wur.nl)
  • This study's findings warrant surveillance to determine whether the prevalence of gene-deleted parasites justifies switching malaria rapid diagnostic tests in Nigeria, Sudan, and South Sudan. (cdc.gov)
  • The mutagenized polyhedrin gene was transferred to the intact viral DNA by mixing fragment and viral DNAs, cotransfecting Spodoptera frugiperda cells, and screening for viral recombinants that had undergone allelic exchange. (asm.org)
  • An rpsL -based markerless gene deletion system was developed and validated by deleting four genes in Sphingomonas sp. (asm.org)
  • Here, we describe a versatile procedure for chromosomal engineering that was used to generate an ES cell line with a megabase deletion encompassing the tumour suppressor gene neurofibromatosis-1 (Nf-1) on mouse chromosome 11, which is often deleted in tumours of neural crest origin. (nature.com)
  • The gene encoding the synaptosomal-associated protein--25 kDa (SNAP-25) was mapped by analysis of somatic cell hybrids and an intersubspecies backcross to mouse Chromosome 2. (jneurosci.org)
  • The genes that code for the α5, α3, and β4 subunits (Chrna5, Chrna3, and Chrnb4, respectively) map adjacent to each other on human chromosome 15/mouse chromosome 9. (nih.gov)
  • A detailed embryological analysis has been undertaken on embryos carrying the c4FR60Hd-, c5FR60Hg- or c2YPSj-albino deletions of mouse chromosome 7. (biologists.org)
  • The two putative transcription factors, PP104 and PP105 , were not co-regulated with the pax genes and based on targeted gene replacement, including the double knockout, did not have a role in paxilline production. (mdpi.com)
  • I am trying to knockout a gene which is essential for growth of the pathogen Pseudomonas aeruginosa PAO1 (has no sacB gene in it). (protocol-online.org)
  • I check for the gene knockout in 'centrimide+kan+amp' plate with PAO1 using the gene inserted suicide vector pFS100 and get no growth (showing the gene is essential) whereas the control plate without antibiotic markers show growth. (protocol-online.org)
  • KDM6A gene knockout mouse disrupts gametophyte development, suggesting that it has a critical role in reproduction. (frontiersin.org)
  • The Ctns gene encodes the cystine transporter, which transports cystine out of the lysosome and is responsible for nephropathic cystinosis in humans. (springer.com)
  • 2000 ). The CTNS gene encodes a seven-transmembrane domain-containing, cystine/H + symporter lysosomal protein, which has an indispensable role in the efflux of cystine from the lysosome (Kalatzis et al. (springer.com)
  • The Slc30a8 gene encodes the islet-specific zinc transporter ZnT-8, which provides zinc for insulin-hexamer formation. (pubmedcentralcanada.ca)
  • A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy. (uni-muenchen.de)
  • We also created IKZF1 knockdown B-ALL cell lines with over 50% reduction of Ikaros, mimicking haplosufficient Ikaros deletions, and again performed qPCR to investigate the downstream targets. (sigmaaldrich.com)
  • The beauty of working with yeast, Hardwick says, is that it is easy to delete, or "knock out," any given gene. (scienceblog.com)
  • These tools provide a simple method to perform niche enquiries between datasets derived from the yeast deletion library. (biomedcentral.com)
  • These experiments demonstrate that the Aα Y gene is not essential for fungal viability and growth, that a solitary Z Aα mating-type gene does not itself activate development, that Aβ proteins are sufficient to activate the A developmental pathway in the absence of Aα proteins and confirm that Y and Z genes are the sole determinants of Aα mating type. (genetics.org)
  • It was concluded that Grx2 gene deletion altered the function of lens structural proteins through S-glutathionylation and also caused severe disturbance in mitochondrial function. (unl.edu)
  • This may vary in the presence of mosaicism for the deletion of chromosome 22. (nature.com)
  • Interestingly, the deletion reported here was observed in about 50% of cells, which is the first case of mosaicism in a 7q31 deletion. (aappublications.org)
  • However, two patients showed partial LOH, consistent with somatic mosaicism for the deletion, suggesting that mosaicism may be more frequent in NF1 than previously recognised (and may have bearing on clinical severity). (bmj.com)
  • Type 2 deletions are less frequent and typically appear in the context of somatic mosaicism. (thefreelibrary.com)
  • The gene responsible for the core neurological features is SHANK3 , which has been found to be mutated in patients with autism spectrum disorders and intellectual disability. (nature.com)
  • GSTT1 Gene Deletion Is Associated with Lung Cancer in Mexican Patients," Disease Markers , vol. 19, no. 6, pp. 259-261, 2004. (hindawi.com)
  • Patients with deletions of chromosome 6p22-p24 reveal characteristic facial features and intellectual disability (ID). (chromodisorder.org)
  • It shows that the JARID2 gene is the main factor causing neurodevelopmental problems in these patients. (chromodisorder.org)
  • The research team found that both patients are completely missing the gene for a recently discovered protein called osteoprotegerin, known to protect bone. (innovations-report.com)
  • The team first evaluated the gene for RANK in these two patients. (innovations-report.com)
  • The two Navajo patients, however, had normal RANK genes. (innovations-report.com)
  • However, analysis of the JPD patients healthy parents revealed that each had only one copy of the gene. (innovations-report.com)
  • The team now is evaluating other patients worldwide with varying forms of JPD, who so far do not appear to have any defects in the osteoprotegerin gene. (innovations-report.com)
  • The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion. (sigmaaldrich.com)
  • We propose that the contiguous loss of the adjacent retinoblastoma gene, MED4, explains the low penetrance in patients with large deletions that include both RB1 and MED4. (sigmaaldrich.com)
  • The deletion of 5q is a frequent chromosomal abnormality in patients with MDS. (haematologica.org)
  • We detected gene deletions in patients from 12 of 25 countries. (cdc.gov)
  • The enriched pathways of these genes were related to immune response, a deficiency that is frequently observed in 22q11.2DS patients. (springer.com)
  • These five patients did not have severe NF1 manifestations, mental retardation, or dysmorphic features, in contrast to previous reports of large NF1 deletions. (bmj.com)
  • The combined GSTM1/GSTT1 deletion was observed in 2% patients and was not significantly associated with ALL in adults (p=0.85). (thefreelibrary.com)
  • When CHD1 is absent, however, the androgen receptor activates genes that promote cancer. (healthcanal.com)
  • And you use the missing gene instead of antibiotic resistance gene, so that your transformants are autotrophic (i.e. grow on media without the supplement contrary to the WT). (biology-online.org)
  • Use the same protocol, just modify it - substitute Luciferase or other fluorescent protein gene in place of an antibiotic resistance gene. (biology-online.org)
  • Deletion of individual antibiotic resistance genes found within the variable region of integrons is demonstrated. (asm.org)
  • Because thousands of genes are involved in mood, anxiety, or obesity, it allows us to root our studies on a solid foundation. (psychcentral.com)
  • Using Cre-Lox technology we have selectively deleted the vitamin D receptor (VDR) gene in the cardiac myocyte in an effort to better understand the role of vitamin D in regulating myocyte structure and function. (ahajournals.org)
  • In the study, Dr. Barbieri and his research team discovered that when CHD1 is present in prostate cells, it works with a transcription factor called the androgen receptor (AR), to turn on genes that are critical for normal functions of prostate tissue. (healthcanal.com)
  • We concluded that X-linked NDI and severity of illness in this family is caused by a novel 388 bp deletion in the AVPR2 gene that is predicted to truncate the receptor protein, and also this deletion may lead to dysfunctioning in protein activity and inefficient or inadequate binding abilities. (unboundmedicine.com)
  • Gene deletion studies and reverse pharmacology (techniques aiming to identify both ligands and function of receptors) provided evidence that many effects of S1P are mediated via five G-protein-coupled S1P receptor subtypes, and novel therapeutic strategies based on interaction with these receptors are being initiated. (unboundmedicine.com)
  • Tyrosine phosphorylation can modulate GABA A receptor function, and deletion of the fyn -kinase gene alters GABAergic function in olfactory bulb neurons, as reported by Kitazawa, Yagi, Miyakawa, Niki, and Kawai ( J Neurophysiol 1998;79:137-142). (aspetjournals.org)
  • Thus, the available evidence suggests that deletion of the fyn-kinase gene may, in addition to the NMDA receptor, interact with the GABA A receptor. (aspetjournals.org)
  • They found a deletion in a gene called ASGR1, which codes for a protein receptor called asialoglycoprotein. (labroots.com)
  • The deletion in ASGR1 that the scientists found consists of 12 missing nucleotides, whose absence disrupts the normal function and structure of the protein receptor. (labroots.com)
  • An S receptor kinase gene in self-compatible Brassica napus has a 1-bp deletion. (plantcell.org)
  • In a major paper published on the 22nd October 2008 in the online edition of the journal Human Molecular Genetics, the SGENE consortium has identified a series of deletions in the neurexin 1 gene as being associated with schizophrenia. (kcl.ac.uk)
  • These deletions also link schizophrenia directly to autism, since neurexin deletions are associated with both diseases. (kcl.ac.uk)
  • The reason we want to identify the genes involved is to improve management and treatment for the patient, and in the case of schizophrenia this may mean tests to help manage risk and allow early intervention. (kcl.ac.uk)
  • Disruption of the neurexin 1 gene is associated with schizophrenia. (kcl.ac.uk)
  • Ikaros, the product of IKZF1, is a regulator of lymphoid development and polymorphisms in the gene have been associated with the acute lymphoblastic leukemia (ALL). (sigmaaldrich.com)
  • Glutathione S-Transferase M1 and T1 Gene Deletions and Susceptibility to Acute Lymphoblastic Leukemia (ALL) in Adults. (thefreelibrary.com)
  • Individuals carrying variants of genes that encode these enzymes have an altered ability to metabolize xenobiotics which may lead to an increased risk of acute lymphoblastic leukemia. (thefreelibrary.com)
  • In larger deletions that affect a greater number of genes, genitourinary anomalies (abnormalities relating to the genital and urinary systems) and cardiac defects were also reported. (chromodisorder.org)
  • The current study aimed to investigate the impact of GSTM1 and GSTT1 gene deletions in causing predisposition to adult ALL. (thefreelibrary.com)
  • Whole blood samples processed with standard phenol chloroform protocol for DNA isolation were genotyped using multiplex PCR approach for simultaneous identification of GSTM1 and GSTT1 deletions. (thefreelibrary.com)
  • Deletion of GSTM1 and GSTT1 did not show statistically significant association with adult ALL (p=0.86 and p=0.35 respectively). (thefreelibrary.com)
  • Transcription factor genes playing a role in the development of hypothalamus and pituitary are pituitary transcription factor 1 (PIT1), Prophet of Pit-1 (PROP1), LIM Homeobox 3 (LHX3), LIM Homeobox 4 (LHX4), and HESX Homeobox 1 (HESX1) which all are known to be important for organ commitment and embryonic pituitary cell differentiation. (hindawi.com)
  • REP-A and REP-C regions mediate Type-1 deletions, which are the most frequent. (thefreelibrary.com)
  • A TaqI map of the dystrophin gene useful for deletion and carrier status analysis. (bmj.com)
  • A PCR-based deletion strategy was used to systematically replace each ORF with a cassette containing a kanamycin-(geneticin) resistance marker along with a unique pair of oligonucleotide (20-mer) molecular tags ( 2 ). (pnas.org)
  • We have developed an efficient gene deletion system for C. parapsilosis based on the repeated use of the dominant nourseothricin resistance marker (caSAT1) and its subsequent deletion by FLP-mediated, site-specific recombination. (jci.org)
  • The problem is i am using a suicide vector pFS100 a derivative of pGP704 carrying a 'pir' dependent origin of replication from plasmid R6K and gene encoding resistance to ampicillin and kanamycin but no sacB gene marker in it. (protocol-online.org)
  • Addgene: Complementary information derived from CRISPR Cas9 mediated gene deletion and suppression. (addgene.org)
  • The CRISPR/Cas9 (clustered regularly interspaced short palindromic repeat/CRISPR-associated protein 9) system and single-stranded donor oligonucleotides (ssODN) strategy can be applied to carry out precise gene editing quickly and at a low cost. (biocat.com)
  • To perform CRISPR Cas9-mediated gene editing, select the nuclease you will use (e.g. (biocat.com)
  • The distance between their breakpoints, which are located at the SUZ12 [suppressor of zeste 12 homolog (Drosophila)] gene and its pseudogene SUZ12P1 (suppressor of zeste 12 homolog pseudogene 1), spans 1.2 Mb (5). (thefreelibrary.com)