Gene Deletion: 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.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Chromosome Deletion: Actual loss of portion of a chromosome.Multigene Family: 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)Molecular Sequence Data: 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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Mutation: 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.Amino Acid Sequence: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Exons: 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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Polymerase Chain Reaction: 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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Mice, Knockout: 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.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Cloning, Molecular: 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.Muscular Dystrophies: 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.Blotting, Southern: 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.Dystroglycans: Dystrophin-associated proteins that play role in the formation of a transmembrane link between laminin-2 and DYSTROPHIN. Both the alpha and the beta subtypes of dystroglycan originate via POST-TRANSLATIONAL PROTEIN PROCESSING of a single precursor protein.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Sequence Alignment: 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.Oligonucleotide Array Sequence Analysis: 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.Recombination, Genetic: 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.Bacterial Proteins: Proteins found in any species of bacterium.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.N-Acetylglucosaminyltransferases: Enzymes that catalyze the transfer of N-acetylglucosamine from a nucleoside diphosphate N-acetylglucosamine to an acceptor molecule which is frequently another carbohydrate. EC 2.4.1.-.Integrases: 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.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.DNA: 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).Homozygote: An individual in which both alleles at a given locus are identical.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Point Mutation: 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.Genes, Bacterial: The functional hereditary units of BACTERIA.Models, Genetic: 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.Genes: 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.Gene Order: The sequential location of genes on a chromosome.Introns: 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.Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.Saccharomyces cerevisiae: 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.Gene Regulatory Networks: Interacting DNA-encoded regulatory subsystems in the GENOME that coordinate input from activator and repressor TRANSCRIPTION FACTORS during development, cell differentiation, or in response to environmental cues. The networks function to ultimately specify expression of particular sets of GENES for specific conditions, times, or locations.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.RNA, Messenger: 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.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.Promoter Regions, Genetic: 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.Mice, Inbred C57BLDatabases, Genetic: Databases devoted to knowledge about specific genes and gene products.Genetic Vectors: 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.Gene Knockout Techniques: 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.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Nucleic Acid Hybridization: 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)Genome, Bacterial: The genetic complement of a BACTERIA as represented in its DNA.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Pedigree: 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.Gene Expression Regulation: 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.Open Reading Frames: 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).Plant Proteins: Proteins found in plants (flowers, herbs, shrubs, trees, etc.). The concept does not include proteins found in vegetables for which VEGETABLE PROTEINS is available.Genetic Variation: Genotypic differences observed among individuals in a population.Genes, Plant: The functional hereditary units of PLANTS.Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.In Situ Hybridization, Fluorescence: 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.Genetic Complementation Test: 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.Software: Sequential operating programs and data which instruct the functioning of a digital computer.Plasmids: 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.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Genes, Essential: Those genes found in an organism which are necessary for its viability and normal function.Saccharomyces cerevisiae Proteins: 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.Gene Targeting: 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.Genes, Fungal: The functional hereditary units of FUNGI.Arabidopsis: A plant genus of the family BRASSICACEAE that contains ARABIDOPSIS PROTEINS and MADS DOMAIN PROTEINS. The species A. thaliana is used for experiments in classical plant genetics as well as molecular genetic studies in plant physiology, biochemistry, and development.DNA Primers: 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.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.Gene Expression Regulation, Fungal: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in fungi.Gene Dosage: 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.Mutagenesis, Insertional: 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.Gene Library: A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.Cell Line: Established cell cultures that have the potential to propagate indefinitely.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Genome, Fungal: The complete gene complement contained in a set of chromosomes in a fungus.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.Escherichia coli: 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.Conserved Sequence: A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.Hemoglobins, Abnormal: 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.Syndrome: A characteristic symptom complex.delta-Thalassemia: 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.Abnormalities, MultipleHaploinsufficiency: 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.Gene Expression Regulation, Plant: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in plants.Genetic Engineering: 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.Dystrophin: 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.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Fungal Proteins: Proteins found in any species of fungus.Intellectual Disability: 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)DNA-Binding Proteins: 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.Virulence: 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.Gene Expression Regulation, Bacterial: Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Glutathione Transferase: 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.alpha-Globins: 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.Comparative Genomic Hybridization: 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.Signal Transduction: 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.Steroid 21-Hydroxylase: 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).Polymorphism, Genetic: 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.Metabolic Engineering: Methods and techniques used to genetically modify cells' biosynthetic product output and develop conditions for growing the cells as BIOREACTORS.Frameshift Mutation: 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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Clonal Deletion: 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.Metabolic Networks and Pathways: Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.Cluster Analysis: A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Cells, Cultured: 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.Membrane Proteins: 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.Disease Models, Animal: 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.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Polymorphism, Restriction Fragment Length: 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.Polymorphism, Single-Stranded Conformational: 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.Neuronal Apoptosis-Inhibitory Protein: 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.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Reverse Transcriptase Polymerase Chain Reaction: 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.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Karyotyping: Mapping of the KARYOTYPE of a cell.Genetics, Microbial: A subdiscipline of genetics which deals with the genetic mechanisms and processes of microorganisms.Genes, Lethal: 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.Cyclin-Dependent Kinase Inhibitor p16: 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.Protein Structure, Tertiary: 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.DNA Probes: 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.Thalassemia: 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.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Haloferax volcanii: A species of halophilic archaea found in the Dead Sea.Hemoglobin H: 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 Fusion Proteins: 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.Repetitive Sequences, Nucleic Acid: 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).alpha-Thalassemia: 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.Transfection: 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.Protein Binding: 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.Nuclear Proteins: 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.Molecular Biology: A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.Heterozygote Detection: Identification of genetic carriers for a given trait.Viral Proteins: Proteins found in any species of virus.Repressor Proteins: 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.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Chromosome Disorders: 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)X Chromosome: 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, Tumor Suppressor: 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.Binding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.22q11 Deletion Syndrome: 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.DNA Restriction Enzymes: 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.Loss of Heterozygosity: 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.Genes, Viral: The functional hereditary units of VIRUSES.Cyclin-Dependent Kinase Inhibitor p15: An INK4 cyclin-dependent kinase inhibitor containing four ANKYRIN-LIKE REPEATS. INK4B is often inactivated by deletions, mutations, or hypermethylation in HEMATOLOGIC NEOPLASMS.Williams Syndrome: 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.DNA Transposable Elements: 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.Sequence Homology, Nucleic Acid: 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.Genetic Techniques: Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.Muscular Dystrophy, Duchenne: 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)Blotting, Western: 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.Models, Biological: 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.Nerve Tissue ProteinsImmunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.DNA Copy Number Variations: Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Embryo, Mammalian: 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.Paraganglioma, Extra-Adrenal: 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)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.DiGeorge Syndrome: 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.Biosynthetic Pathways: Sets of enzymatic reactions occurring in organisms and that form biochemicals by making new covalent bonds.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Operon: 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.Haplotypes: 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.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Tumor Suppressor Proteins: 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.Survival of Motor Neuron 1 Protein: 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.Lactobacillus plantarum: A species of rod-shaped, LACTIC ACID bacteria used in PROBIOTICS and SILAGE production.DNA, Neoplasm: DNA present in neoplastic tissue.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Ichthyosis: 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.Mutagenesis, Site-Directed: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.Genetic Testing: 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.Escherichia coli Proteins: Proteins obtained from ESCHERICHIA COLI.Green Fluorescent Proteins: 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.Virus Replication: 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.SMN Complex Proteins: 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.Mosaicism: 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.Chromosomes, Artificial, Bacterial: 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.Proteins: 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.Epoxide Hydrolases: Enzymes that catalyze reversibly the formation of an epoxide or arene oxide from a glycol or aromatic diol, respectively.Globins: A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.Adrenal Hyperplasia, Congenital: 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.Glycerol Kinase: 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 220.127.116.11.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Genes, Reporter: 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.Deoxyribonucleases, Type II Site-Specific: 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 18.104.22.168.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
"Familial hypophosphatemic rickets caused by a large deletion in PHEX gene". European Journal of Endocrinology. 161 (4): 647-651 ... Large dental pulp chamber Interglobular dentin Dental abscesses XLH is associated with a mutation in the PHEX gene sequence, ... Gene mutations in PHEX prevent it from correctly regulating fibroblast growth factor 23. The resulting overactivity of FGF-23 ... This means the defective gene responsible for the disorder (PHEX) is located on the X chromosome, and only one copy of the ...
The susceptibility of retinal damage is increased after deletion of the ASIC2 gene. Increased apoptosis occurred in response to ... ASIC's have a large, fist-like extracellular region that consumes most of the proteins structure. Within its "fist-like" ... Gene knockout studies as well as ASIC blockades have shown to reduce brain infarct volume by as much as 60%, suggesting ASIC ... These genes have splice variants that encode for several isoforms that are marked by a suffix. In mammals, acid-sensing ion ...
Examples of manipulations are: Deletion of one or more T3SS genes (gene knockout). Overexpression of one or more T3SS genes (in ... has a large virulence plasmid on which all T3SS genes reside. It is important to note that many pathogenicity islands and ... PhoP-repressed gene Inv: Invasion Org: Oxygen-regulated gene Ssp: Salmonella-secreted protein Iag: Invasion-associated gene ... Most T3SS genes are laid out in operons. These operons are located on the bacterial chromosome in some species and on a ...
1994). "Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy". J. Clin. Invest. 94 (2 ... "Entrez Gene: ACOX1 acyl-Coenzyme A oxidase 1, palmitoyl". Human ACOX1 genome location and ACOX1 gene details page in the UCSC ... Peroxisomal acyl-coenzyme A oxidase 1 is an enzyme that in humans is encoded by the ACOX1 gene. The protein encoded by this ... Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very ...
... large deletions, removing up to 31 exons from the gene. These large deletions have a high correlation with specific breakpoints ... "High frequency of large intragenic deletions in the Fanconi anemia group A gene". Am. J. Hum. Genet. 65 (5): 1330-41. doi: ... FANCA was cloned in 1996 and it is one of the largest FA genes. Hundreds of different mutations have been recorded with 30% ... expression and complex formation of the murine Fanconi anaemia gene product Fancg". Genes Cells. 7 (3): 333-42. doi:10.1046/j. ...
Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11". Hum Mutat. 18 (1): 85. doi:10.1002/humu ... "Mutation Detection in the ABCC6 Gene and Genotype-Phenotype Analysis in a Large International Case Series Affected by ... is a protein that in humans is encoded by the ABCC6 gene. The protein encoded by the ABCC6 gene is a member of the superfamily ... ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member ...
Noble, S. M; Johnson, A. D (2005). "Strains and strategies for large-scale gene deletion studies of the diploid human fungal ... The reporter gene used in the system is the HIS1 gene. When proteins interact, the cells will be able to grow on medium lacking ... Of the tested 1152 genes 567 showed to be essential. The knowledge on essential genes can be used to discover novel antifungals ... "Large-scale essential gene identification in Candida albicans and applications to antifungal drug discovery". Mol Microbiol. 38 ...
... scaly skin and is due to deletions or mutations in the STS gene. XLI can also occur in the context of larger deletions causing ... A hemizygous deletion or mutation of the STS gene in a male results in complete absence of enzyme activity, while a female ... Because XLI is caused by a gene mutation or deletion, there is no "cure." One of the aims of treatment is to reduce scaling by ... XLI can occur through new deletions or mutations of the STS gene but is more commonly inherited from a carrier mother. ...
Those large segments, also called large rearrangements, can be a deletion or a duplication of one or several exons in the gene ... "Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method". Cancer Res. 63 (7): 1449 ... BRCA1 is a human tumor suppressor gene (to be specific, a caretaker gene), found in all humans; its protein, also called by the ... invalidating Myriad's patents on the BRCA1 and BRCA2 genes. However, the Court also held that manipulation of a gene to create ...
... containing hundreds of genes. Large chromosomal abnormalities always produce effects on many different body parts and organ ... Some conditions result from deletions or abnormalities of a few genes located contiguously on a chromosome. Chromosomal ... Genetic diseases may be divided into single-gene defects, multiple-gene disorders, or chromosomal defects. Single-gene defects ... Most of these are single gene defects, usually heritable. Many affect the structure of body parts but some simply affect the ...
2003). "Novel Deletion in the Pre-mRNA Splicing Gene PRPF31 Causes Autosomal Dominant Retinitis Pigmentosa in a Large Chinese ... is a protein which in humans is encoded by the PRPF31 gene. PRPF31 is the gene coding for the splicing factor hPRP31. It is ... caused by mutations in the FECH gene; and hereditary elliptocytosis, caused by mutations in the spectrin gene. ENSG00000275885 ... "Entrez Gene: PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)". Waseem NH, Vaclavik V, Webster A, Jenkins SA ...
The mechanism behind the formation of multiple osteochondroma is large genomic deletions of EXT1 and EXT2 genes. The identified ... Approximately 65% of osteochondromas arise in the EXT1 gene loci on chromosome 8 and 35% arise in EXT2 gene loci on chromosome ... In large, secondary chondrosarcoma arises at the site of osteochondroma due to increased thickness of the cartilage cap ... Germ line Mutations in EXT1 and EXT2 genes located on chromosomes 8 and 11 have been associated with the cause of the disease. ...
... containing hundreds of genes. Large chromosomal abnormalities always produce effects on many different body parts and organ ... Some conditions result from deletions or abnormalities of a few genes located contiguously on a chromosome. Chromosomal ... Genetic disorders may be grouped into single-gene defects, multiple-gene disorders, or chromosomal defects. Single-gene defects ... Genetic causes of birth defects include inheritance of abnormal genes from the mother or the father, as well as new mutations ...
... containing hundreds of genes. Large chromosomal abnormalities always produce effects on many different body parts and organ ... Monosomies/deletions. *(1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome/1p36 deletion syndrome) *1 ... Genetic disorders may be grouped into single-gene defects, multiple-gene disorders, or chromosomal defects. Single-gene defects ... Some conditions result from deletions or abnormalities of a few genes located contiguously on a chromosome. Chromosomal ...
"A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia- ... The KCTD7 gene encodes a member of the potassium channel tetramerisation domain-containing protein family. Family members are ... Potassium channel tetramerisation domain containing 7 is a protein in humans that is encoded by the KCTD7 gene. Alternative ... In 3 affected members of a large consanguineous Moroccan family with progressive myoclonic epilepsy-3, a homozygous nonsense ...
Novel large deletion c.22-1320_633+1224del in the CYB5R3 gene from patients with hereditary methemoglobinemia]". Genetika. 48 ( ... The CYB5R3 gene is located on the 22nd chromosome, with its specific location being 22q13.2. The gene contains 12 exons. CYB5R3 ... The GC content of this 5' portion of the gene is 86%, much higher than the average GC of the entire gene, which is 55%. There ... "An in-frame deletion of codon 298 of the NADH-cytochrome b5 reductase gene results in hereditary methemoglobinemia type II ( ...
Alone, this family of genes makes up 1% of the entire active genome and represents the largest gene family for all species. ... In particular, repeated rounds of gene duplication, deletion, and pseudogene evolution contribute to the variety of OR gene ... a large number of gene gains and losses are observed for almost all branches, suggesting that a significant fraction of gene ... All OR genes were lost in the lineage of urochordata because of the absence of any vertebrate-type OR-like genes. The loss of ...
2002). "Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with ... 2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287- ... 1996). "Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121- ... "Entrez Gene: ARHGAP4 Rho GTPase activating protein 4". Vogt, DL; Gray, CD; Young Ws, 3rd; Orellana, SA; Malouf, AT (2007). " ...
However, the smaller deletions in bacterial plasmids have been associated with replication slippage, while the larger deletions ... A study on Escherichia coli found that gene deletions spontaneously occur in plasmid regions containing Z-DNA-forming sequences ... In mammalian cells, the presence of such sequences was found to produce large genomic fragment deletions due to chromosomal ... 2006). "Z-DNA-forming sequences generate large-scale deletions in mammalian cells". The National Academy of Sciences. 108 (8): ...
These three subfamilies share a deletion of nine base-pairs in the ndhF gene which is not present in Gymnarrhena micrantha. ... The early production of few large seeds followed by production of many small seeds may have been the result of the variable and ... The functionally male florets occur in small groups and have very short individual stems, mostly in the centre of a larger ... After six days, seedlings of subterranean fruits are six times larger than those of aerial fruits and their survival rate is ...
... increasing the dosage of the genes located within them. Deletions of large chromosomal regions, leading to loss of the genes ... Most genes belong to larger gene families of shared ancestry, known as homology. Novel genes are produced by several methods, ... Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or ... Large-scale mutations in chromosomal structure include: Amplifications (or gene duplications) leading to multiple copies of all ...
A deletion of GcvB RNA from Y. pestis changed colony shape as well as reducing growth. It has been shown by gene deletion that ... lifting the GcvB-mediated mRNA repression of its target genes. GcvB has been shown to regulate a large number of genes in E. ... The GcvB gene is found in enteric bacteria such as Escherichia coli. GcvB regulates genes by acting as an antisense binding ... Transcription of the GcvB RNA is activated by the adjacent GcvA gene and repressed by the GcvR gene. ...
"Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband". ... "Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband". ... Rett syndrome is due to a genetic mutation of the MECP2 gene. This gene occurs on the X chromosome. Typically it develops as a ... he has no normal gene. Without a normal gene to provide normal proteins in addition to the abnormal proteins caused by a MECP2 ...
2002). "Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of ... Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55-65. ... "Entrez Gene: TOM1L2 target of myb1-like 2 (chicken)". Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double ... 1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353-8. doi:10.1101/gr.7.4.353. PMC 139146 . PMID 9110174 ...
Roizman, Bernard; Post, L.E. (1981). "A generalized technique for deletion of specific genes in large genomes: α gene 22 of ... Roizman, Bernard; Michael, N. (1993). "Repression of the herpes simplex virus 1 α4 gene by its gene product occurs within the ... Roizman, Bernard; Post, L.E.; Mackem, S. (1981). "Regulation of α genes of herpes simplex virus: expression of chimeric genes ... Herpes simplex virus mutant deleted in the α22 gene: growth and gene expression in permissive and restrictive cells and ...
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 ... Large-scale sequencing of the chimpanzee genome is now imminent.. ". Olson
... Suheyla Gorar,1 Doga Turkkahraman,2 and Kanay Yararbas3 ... H. Zhang, Y. Wang, L. Han, X. Gu, and D. Shi, "A large deletion of PROP1 gene in patients with combined pituitary hormone ... As further human studies included familial total deletions of the gene all causing CPHD phenotype, gross deletions became well ... K. Hemchand, K. Anuradha, S. Neeti et al., "Entire prophet of Pit-1 (PROP-1) gene deletion in an Indian girl with combined ...
Reliable inference of gene interactions from perturbation experiments remains a challenge. Here, the authors quantify the upper ... whereas the knowledge about gene-specific variability among biological replicates can be used to eliminate noise-sensitive ... screens and introduce a network inference method that is unbiased with respect to measurement noise and scalable to large ... develop the analytical and numerical tools to quantify the fundamental limits for inferring transcriptional networks from gene ...
CD20 gene deletion causes a CD20-negative relapse in diffuse large B-cell lymphoma. Authors. *. Tsuyoshi Nakamaki,. ... Deletion of the CD20 gene is a molecular mechanism of CD20-negative relapse in a subset of DLBCL. ... showed homozygous deletion of the CD20 gene with loss of the copy number of 11q12. SD07 is the first case in which it is proven ... PCR assay for immunoglobulin (Ig) kappa (κ) chain gene rearrangement. Figure S2. The karyotype of the CD20-negative DLBCL cell ...
The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion.. [Catherine Dehainault, ... However, large and complete germline RB1 deletions are associated with low or no tumor risk for reasons that remain unknown. In ... explains the low penetrance in patients with large deletions that include both RB1 and MED4. Our findings also point to another ... This region encompasses few genes including MED4 a subunit of the mediator complex. We further show that retinoblastoma RB1 ...
Large deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathy.pdf. Restricted Access ... Large deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathy. ... Large deletion in the EPCAM gene responsible for the milder phenotype of congenital tufting enteropathy. United European ... A number of point mutations within the EPCAM gene have been found to be responsible for congenital tufting enteropathy (CTE). ...
The association of this deletion within the SEC16A gene with AxSpA is particularly interesting given that the gene product ... Conclusions Full exome sequencing of a large multigenerational AxSpA family revealed a 9-bp deletion in SEC16A segregating in ... Although this in-frame deletion had no significant impact on gene or protein expression, a detrimental impact on protein ... The in-frame deletion had no significant impact on gene or protein expression. ...
A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family. Download Prime PubMed App ... A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.. Endocrine. 2014 May; 46( ... "A Large Deletion of the AVPR2 Gene Causing Severe Nephrogenic Diabetes Insipidus in a Turkish Family." Endocrine, vol. 46, no. ... A Large Deletion of the AVPR2 Gene Causing Severe Nephrogenic Diabetes Insipidus in a Turkish Family. Endocrine. 2014;46(1):148 ...
We have generated a novel large-scale collection encompassing 619 bar-coded C. glabrata mutants, each lacking a single gene. ... This fungal deletion collection will be a valuable resource for the community to study mechanisms of virulence and antifungal ... Extensive profiling of phenotypes reveals a number of novel genes implicated in tolerance to antifungal drugs that interfere ... with proper cell wall function, as well as genes affecting fitness of C. glabrata both during normal growth and under ...
A set of neurofibromatosis type 1 (NF1) patients was screened for large NF1 gene deletions by comparing patient and parent ... in contrast to previous reports of large NF1 deletions. All five deletions were de novo and occurred on the maternal chromosome ... We suggest that large NF1 deletions (1) are not always associated with unusual clinical features, (2) tend to occur more ... indicative of NF1 gene deletion. These five patients did not have severe NF1 manifestations, mental retardation, or dysmorphic ...
A large deletion in the matrix domain of the human immunodeficiency virus gag gene redirects virus particle assembly from the ... A large deletion in the matrix domain of the human immunodeficiency virus gag gene redirects virus particle assembly from the ... A large deletion in the matrix domain of the human immunodeficiency virus gag gene redirects virus particle assembly from the ... A large deletion in the matrix domain of the human immunodeficiency virus gag gene redirects virus particle assembly from the ...
Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy ... Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy ... Mutations in the solute carrier family 4 member 11 (SLC4A11) gene have been identified in most patients with CHED2. With PCR ...
Strains and Strategies for Large-Scale Gene Deletion Studies of the Diploid Human Fungal Pathogen Candida albicans. Suzanne M. ... Strains and Strategies for Large-Scale Gene Deletion Studies of the Diploid Human Fungal Pathogen Candida albicans ... Strains and Strategies for Large-Scale Gene Deletion Studies of the Diploid Human Fungal Pathogen Candida albicans ... Strains and Strategies for Large-Scale Gene Deletion Studies of the Diploid Human Fungal Pathogen Candida albicans ...
By visual inspection of candidate genes located on the X-chromosome, we identified a large deletion in the NSDHL gene, encoding ... A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder. View ORCID ProfileAnina ... A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder. View ORCID ProfileAnina ... A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder. View ORCID ProfileAnina ...
... Johansson, Anna ... Large deletions of PROS I are relatively common in protein S deficiency patients and screening for large deletions in PROS I ... Large deletions of PROS I are relatively common in protein S deficiency patients and screening for large deletions in PROS I ... The present study investigates whether large deletions of PROS I are found in families where mutations in the PROS I gene have ...
The protocol was extensively used to phenotype a collection of gene deletion mutants in the human fungal pathogen Candida ... we describe a method enabling the phenotypic profiling of genome-scale deletion collections of fungal mutants to detect ... Large-scale Phenotypic Profiling of Gene Deletion Mutants in Candida glabrata Fabian Istel*. Tobias Schwarzmüller*. Michael ... Istel, F., Schwarzmüller, T., Tscherner, M. and Kuchler, K. (2015). Large-scale Phenotypic Profiling of Gene Deletion Mutants ...
One of these deletions removes the entire coding region of the SHOX gene and both deletions remove parts of the CRLF2 gene ... 2014 Gene alterations involving the CRLF2-JAK pathway and recurrent gene deletions in Down syndrome-associated acute ... One of the identified deletions removes the entire coding region of the short stature homeobox (SHOX) gene and both deletions ... Predicted protein coding genes with similarity to human genes are visualized using red boxes. *The CRLF2 gene model was ...
DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. ... We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of ... sequences analogous to those detected in a corresponding position of the human beta globin cluster are removed by this deletion ... Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. ...
CONCLUSION We report the largest genomic deletion including PROP1 gene associated with CPHD. Q6ZTH3 is unlikely to exert an ... The mother of one of the probands was hemizygous for this large deletion, which confirmed the assumption that the affected ... METHODS PROP1 gene and adjacent sequences from genomic samples from two unrelated families were amplified to investigate ... A quantitative real-time polymerase chain reaction was conducted to analyze the copy number of PROP1 gene in the probands ...
A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital ... A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital ...
A pre-S gene chip to detect pre-S deletions in hepatitis B virus large surface antigen as a predictive marker for hepatoma risk ... These results showed that the Pre-S Gene Chip correctly detected the pre-S deletions in the LHBS gene.. Table 2 Pre-S mutations ... We developed the Pre-S Gene Chip system to screen for pre-S deletions in the LHBS gene. The detection sensitivity of the Pre-S ... the Pre-S Gene Chip is potentially good for large-scale screening of pre-S deletions; perhaps it can be improved. ...
Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene ... Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene ... Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene ... Compound heterozygosity for a hemizygous rare missense variant (rs141999351) and a large CNV deletion affecting the FSTL5 gene ...
The frequent large deletions on other chromosomes (e.g., 3p, 5q, 9p, 17p) suggest that deletion of linked cancer genes may play ... S7), supporting our idea that the biology mediated by these large deletions goes beyond the effects of individual genes. ... Although chromosome 8p22 is at a deletion epicenter in HCC, most 8p deletions span even larger regions (Fig. 1A). Thus, we ... these deletions are frequently much larger and reduce the dosages of tens or hundreds of genes, often encompassing the entire ...
... injury response and resulted in a larger wound on the spinal cord. Conversely, the scientists overexpressed the gene in other ... "Inducible LZK gene deletion in astrocytes of adult mice reduced astrogliosis and impaired glial scar formation, resulting in ... Home News Recovery from Stroke and Spinal Injury Aided by Gene Deletion ... Recovery from Stroke and Spinal Injury Aided by Gene Deletion. March 28, 2018. 0 ...
Moderna Files for Largest-Ever Biotech IPO, Seeking to Raise $500M. Genomic Chaos Insights Suggest Therapeutic Option for Some ... Deletion of Addiction Gene Keeps Mice off Cocaine. 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 " ...
Scientists Demonstrate Mammalian Regeneration Through a Single Gene Deletion. By John Wiens DC,March 17, 2010,Research, ... the identification of a gene that may regulate regeneration in mammals. The absence of this single gene, called p21, confers a ... researchers from The Wistar Institute demonstrate that mice that lack the p21 gene gain the ability to regenerate lost or ...
MutationsDuplicationsInsertion-deletionHomozygous deletionIntragenic deletionsAlleleDetectDetectionInversionsFamily of genesSequenceInsertions or deletionsTumor suppressorsPolymorphismGenomic deletionsAlpha globin genesLoss of heterozygosPhenotypesEncodeMultiplexPathogenicEncompassTranscriptionMolecularRearrangementGenomes containDefectsTumorsMicrosatelliteHumansProtein-codinProteinsCancersLocated on chromosomeLocusInactivationHundreds of genesDuplicationSingle geneMegabaseEssential genesChromosomesPathwayQuantitativeMicrodeletions
- 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)
- X-linked nephrogenic diabetes insipidus (NDI) is a rare hereditary disease caused by mutations in arginine vasopressin type 2 receptor (AVPR2) and characterized by the production of large amounts of urine and an inability to concentrate urine in response to the antidiuretic hormone vasopressin. (unboundmedicine.com)
- 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)
- Mutations in the solute carrier family 4 member 11 ( SLC4A11 ) gene have been identified in most patients with CHED2. (bmj.com)
- Protein S deficiency is an autosomal dominant disorder that results from mutations in the PROS I gene. (lu.se)
- The present study investigates whether large deletions of PROS I are found in families where mutations in the PROS I gene have not been found despite sequencing. (lu.se)
- BACKGROUND Familial combined pituitary hormone deficiency (CPHD) appears to have a genetic cause, PROP1 gene mutations being the most common one. (semanticscholar.org)
- Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. (semanticscholar.org)
- 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)
- Here, we utilised a recently described MLPA/long-range PCR-based approach to screen the remaining 22 % (n = 16) of CRC-affected probands for mutations in the 3′ end of the PMS2 gene. (edu.au)
- The objective of this study was to search for large pathogenic deletions and/or duplications in the FBN1, TGFβR1 , and TGFβR2 genes using multiplex-ligation dependent probe amplification (MLPA) in patients with aortopathy, in whom no mutations in the FBN1, TGFβR1 , and TGFβR2 genes were identified by sequencing. (beds.ac.uk)
- The deletions accounted for 19％ of the total hMSH2 and hMLH1 germline pathogenic mutations. (actacams.com)
- Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary nonpolyposis colorectal cancer. (actacams.com)
- Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. (medscape.com)
- Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. (medscape.com)
- Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. (medscape.com)
- Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. (medscape.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)
- While past research has shown that gene editing can lead to mutations far away from the targeted region, these studies instead draw attention to more localized damage involving larger sequences of DNA that could be overlooked by traditional safety screenings, Nature reports. (the-scientist.com)
- In the other individuals with Gillespie syndrome no mutations were identified in either of these genes, or in HCCS which lies close to the Xp breakpoint. (plos.org)
- Mutations in these genes are more commonly associated with juvenile-onset glaucoma [ 11 ] and anterior segment dysgenesis [ 12 - 14 ] presenting with syndromic features of rare cardiac anomalies for FOXC1 and hypodontia and umbilical anomalies for PITX2 . (plos.org)
- Rarely, mutations in or near these genes can also be responsible for the disease. (medlineplus.gov)
- The signs and symptoms of alpha thalassemia tend to be more severe when the disease results from mutations in the alpha-globin genes than when it is caused by deletions of these genes. (medlineplus.gov)
- We do this either by forward genetic screens for worm mutants with behavioral defects or by generating directed mutations in known synaptic genes. (hhmi.org)
- in 2016, a tenth type was defined based on mutations in the AP3D1 gene. (medscape.com)
- A combination of mutations in any of these genes could contribute to the likelihood of being born with autism. (scientificamerican.com)
- The prevalence of germline pathogenic mutations in a comprehensive panel of cancer predisposition genes is not well-defined for patients with pancreatic ductal adenocarcinoma (PDAC). (aacrjournals.org)
- To estimate the frequency of mutations in a panel of 22 cancer predisposition genes, 96 patients unselected for a family history of cancer who were recruited to the Mayo Clinic Pancreatic Cancer patient registry over a 12-month period were screened by next-generation sequencing. (aacrjournals.org)
- Fourteen pathogenic mutations in 13 patients (13.5%) were identified in eight genes: four in ATM , two in BRCA2 , CHEK2 , and MSH6 , and one in BARD1 , BRCA1 , FANCM , and NBN . (aacrjournals.org)
- These included nine mutations (9.4%) in established pancreatic cancer genes. (aacrjournals.org)
- These results suggest that a substantial proportion of patients with PDAC carry germline mutations in predisposition genes associated with other cancers and that a better understanding of pancreatic cancer risk will depend on evaluation of families with broad constellations of tumors. (aacrjournals.org)
- Although germline studies have focused on single cancer predisposition genes ( 13 ), the prevalence of pathogenic mutations in BRCA1, BRCA2, PALB2 , and CDKN2A has recently been estimated at 8% among patients with FPC and 3.5% among families with less pancreatic cancer history ( 14 ). (aacrjournals.org)
- The first panel-based study of 13 cancer predisposition genes among patients with pancreatic cancer identified 11 pathogenic mutations (3.8%) in ATM, BRCA1, BRCA2, MLH1, MSH2, MSH6 , and TP53 ( 15 ). (aacrjournals.org)
- Here, we report on mutation screening of 96 patients with PDAC, recruited to the Mayo Clinic pancreatic cancer patient registry over a 12-month period, with a 22-gene panel to determine the prevalence of mutations in these genes. (aacrjournals.org)
- 3- 6, 9, 10 These techniques detect whole gene deletions and small intra-exonic deletions/insertions or point mutations. (bmj.com)
- Head and neck paraganglioma (HNP) is caused by germline mutations of at least three succinate dehydrogenase subunit genes ( SDHx ). (aacrjournals.org)
- Patients were tested for SDHB, SDHC , and SDHD intragenic mutations and large deletions. (aacrjournals.org)
- Taken together, the complete palette of potential locations of germline mutations lies in 5 genes totalling 25 "at-risk" exons and also includes large rearrangements/deletions in 4 of these genes ( 23 - 25 ). (aacrjournals.org)
- Frequent Phosphodiesterase 11A Gene (PDE11A) Defects in Patients with Carney Complex (CNC) Caused by PRKAR1A Mutations: PDE11A May Contribute to Adrenal and Testicular Tumors in CNC as a Modifier of the Phenotype. (kslaw.com)
- Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. (semanticscholar.org)
- Wnt/β-catenin pathway activation in adrenocortical adenomas is frequently due to somatic CTNNB1-activating mutations, which are associated with larger and nonsecreting tumors: a study in cortisol-secreting and -nonsecreting tumors. (semanticscholar.org)
- Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. (semanticscholar.org)
- Mutations in act were found to affect the expression of developmental gene reporters that are expressed after 6 h of development and are related to aggregation and sporulation ( 16 ). (asm.org)
- Nghiem, Peter 2018-05-29 00:00:00 Background: Boys with Duchenne muscular dystrophy (DMD) have DMD gene mutations, with associated loss of the dystrophin protein and progressive muscle degeneration and weakness. (deepdyve.com)
- According to Leiden's database , ~ 40% males caused by DMD gene mutations and a resulting of DMD gene mutations are deletions of a mean size of lack of the protein dystrophin . (deepdyve.com)
- Several additional DMD mutations, needle electromyography while the dog was under gen- including variably sized deletions and insertions, have eral anesthesia (isoflurane and oxygen). (deepdyve.com)
- Muscle samples advent of gene replacement, exon skipping, and gene edit- were placed on a wooden tongue depressor, wrapped in a ing approaches that allow treatment of specific mutations, sterile saline-soaked gauze pad, and shipped overnight on additional large animal mammalian models with DMD a cold pack to Texas A&M University (laboratory of gene mutations paralleling those of DMD are needed. (deepdyve.com)
- Gene mutations in PHEX prevent it from correctly regulating fibroblast growth factor 23. (wikipedia.org)
- Targeting gene loss of function in tumor cells stands in contrast to the more frequent search for molecular targeted therapies to stymie active cancer-driving genes that are amplified or dysfunctional due to mutations. (mdanderson.org)
- More than 260 mutations in the FOXL2 gene have been found to cause blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). (nih.gov)
- It is difficult to predict the type of BPES that will result from the many FOXL2 gene mutations. (nih.gov)
- Five percent of mutations that cause BPES occur outside the FOXL2 gene in a neighboring region of DNA that normally controls the activity of the gene, known as a regulatory region. (nih.gov)
- Approximately 12 percent of mutations causing BPES are deletions involving the FOXL2 gene. (nih.gov)
- Some gene mutations are acquired during a person's lifetime and are present only in certain cells. (nih.gov)
- At least three mutations in the FOXL2 gene are thought to cause primary ovarian insufficiency without any other features of BPES. (nih.gov)
- The FOXL2 gene mutations that cause primary ovarian insufficiency lead to a reduction in protein function, preventing the FOXL2 protein from controlling genes that regulate various activities in the ovaries. (nih.gov)
- Free radicals generated by irradiation of the cytoplasm are also believed to induce gene mutations even in the non-irradiated nucleus. (encyclopedia.com)
- Critical lesions leading to mutations or killing of a cell include induction of DNA strand breaks, damaged bases, and production of abasic sites (where a single base is deleted), and - in multichromosomal organisms - large chromosomal deletions. (encyclopedia.com)
- Over 80 mutations of this gene, leading to decreased activity or total inactivity of the CTNS gene, have been identified. (managedcaremag.com)
- Cataract phenotypes were investigated in a repeated study of 19 F0-generation and 11 F1-generation rabbits with αA-crystallin gene mutations. (arvojournals.org)
- We found αA-crystallin gene mutations in all 19 F0-generation pups (100%) with indel mutations in the αA-crystallin gene ranging from 3 to 52 bp. (arvojournals.org)
- Recently, mutations in a gene encoding a spliceosomal protein, SF3B1 , were discovered in a distinct form of MDS with ring sideroblasts. (bloodjournal.org)
- Whole exome sequencing of 15 patients with myeloid neoplasms was performed, and somatic mutations in spliceosomal genes were identified. (bloodjournal.org)
- We identified additional somatic mutations in spliceosomal genes, including SF3B1 , U2AF1 , and SRSF2 . (bloodjournal.org)
- Mutations affecting spliceosomal genes that result in defective splicing are a new leukemogenic pathway. (bloodjournal.org)
- Spliceosomal genes are probably tumor suppressors, and their mutations may constitute diagnostic biomarkers that could potentially serve as therapeutic targets. (bloodjournal.org)
- 19 ⇓ ⇓ ⇓ ⇓ - 24 Although some mutations in these factors are activating, most are loss-of-function or hypomorphic mutations and affect bona fide tumor suppressor genes (TSGs). (bloodjournal.org)
- Of greatest diagnostic effect are recurrent mutations found in specific genes. (bloodjournal.org)
- Microevolution of Duplications and Deletions and Their Impact on Gene Expression in the Nematode Pristionchus pacificus. (nih.gov)
- 2 kb) deletions and duplications relative to the reference strain. (nih.gov)
- Nevertheless, we still find that certain gene classes are strongly depleted in deletions as well as duplications, suggesting evolutionary constraint acting on synteny. (nih.gov)
- Identification of duplications and deletions in the P. pacificus strains. (nih.gov)
- However, large deletions and duplications undetected by sequencing may be implicated in their pathogenesis, and may explain the apparent lack of genotype-phenotype correlation in a subset of patients. (beds.ac.uk)
- A few reports of large genomic deletions involving single and multiple exons of the FBN1 gene [ 12 - 17 ] as well as whole- FBN1 deletions [ 18 - 22 ] are available, although no large FBN1 duplications have been reported to date. (beds.ac.uk)
- We demonstrated that the GSTM gene family has evolved through multiple structural variations, involving gene duplications, losses, large inversions and gene conversions. (biomedcentral.com)
- To develop a multiplex ligation dependent probe amplification (MLPA) assay to screen NSD1 for exonic deletions/duplications. (bmj.com)
- However, they are rarely able to detect deletions or duplications that encompass one or more exons. (bmj.com)
- Partial gene deletions/duplications have been identified in several conditions such as Fanconi anaemia group A, hereditary non-polyposis colorectal cancer (HNPCC), and hereditary breast-ovarian cancer syndrome (HBOS), 11- 13 but have not been reported in Sotos syndrome. (bmj.com)
- Several methods for detecting partial gene deletions/duplications have been described, including Southern blotting, quantitative fluorescent polymerase chain reaction (QF-PCR), real time PCR, multiplex amplification and probe hybridisation (MAPH), and multiplex ligation dependent probe amplification (MLPA). (bmj.com)
- Chromosomal changes that result in gene dosage differences (deletions, duplications, and nondisjunction) can be particularly severe. (genetics.org)
- The specific gene(s) associated with pathological deletions and duplications are, however, much harder to identify because many genes are affected by these aberrations. (genetics.org)
- We use MLPA technology (multiplex ligation-dependent probe amplification) to detect large DNA rearrangements (deletions and duplications) in the CLN6 gene. (massgeneral.org)
- Based on these evolutionary transformations, a computing model has been formulated in formal language theory known as insertion-deletion systems. (inria.fr)
- Recently, in , 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)
- 8 9 An insertion/deletion ( I/D ) polymorphism in intron 16 of ACE was significantly associated with hypertension only in men. (ahajournals.org)
- Besides rearrangements, it can also handle gene insertion, deletion and duplication. (sc.edu)
- OBJECTIVE -The ACE insertion/deletion (I/D) polymorphism has been identified as a genetic risk factor for coronary heart disease (CHD). (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)
- SD07, which has an immunoglobulin κ rearrangement identical to that of lymphoma cells at CD20-negative relapse, showed homozygous deletion of the CD20 gene with loss of the copy number of 11q12. (wiley.com)
- 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)
- Further detailed analysis of the expression of multiple genes bracketing the deletions revealed only minor expression differences in homozygous deletion and wild-type mice. (nih.gov)
- Such deletions range from small intragenic deletions to loss of large chromosomal regions encompassing thousands of genes. (nature.com)
- Breakpoint-specific multiplex PCR allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia. (biomedsearch.com)
- Beside monosomy 7 and large 7p abnormalities encompassing IKZF1, most IKZF1 alterations are short, intragenic deletions. (biomedsearch.com)
- Based on cohorts of patients, we mapped the microdeletions breakpoints and developed a breakpoint-specific fluorescent multiplex PCR which allows detection of recurrent intragenic deletions. (biomedsearch.com)
- For each gene, one allele is inherited from a person's father, and the other is inherited from a person's mother. (medlineplus.gov)
- 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)
- 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)
- 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)
- A pre-S oligonucleotide gene chip was developed to efficiently detect pre-S deletions in chronic HBV carriers. (biomedcentral.com)
- It is necessary to detect the large intragenic MMR genes deletions in the molecular detection of HNPCC. (actacams.com)
- This sensitive test could also detect IKZF1 sub-clonal deletions, whose prognostic significance should be evaluated. (biomedsearch.com)
- The polymerase chain reaction ( PCR ) is also used to detect the loss of some marker genes by large deletions. (encyclopedia.com)
- The second major direction will be to develop a new technology in genotyping and gene sequencing using the concept of using nanowires to detect the electrical impedance changes associated with nucleotide binding. (ncl.ac.uk)
- however, they are involved in tests used to detect a hereditary predisposition to certain cancers (e.g., breast cancer susceptibility genes, BRCA1 and BRCA2 ). (aruplab.com)
- However, the detection of direct interactions between two genes from association measures-for example, the covariance between transcript levels-remains a highly non-trivial task, given the significant variation among biological replicates, the frequent case where the number of parameters exceeds the number of independent data points, and the high dimensionality of the inference problem. (nature.com)
- The Pre-S Gene Chip offers a highly sensitive and specific method for pre-S deletion detection and is less expensive and more efficient (turnaround time 3 days) than DNA sequencing analysis. (biomedcentral.com)
- The detection rate of large fragment deletions in APC was 5.8% (2/34). (cdc.gov)
- Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything? (edu.au)
- However the detection of large-scale deletions in the 3′ end of the PMS2 gene has not been possible due to technical difficulties associated with pseudogene sequences. (edu.au)
- Detection of Large Intragenic Mismatch Repair Genes Deletions in Chinese ereditary Nonpolyposis Colorectal Cancer Families with MultiplexLigation-dependent Probe Amplification Technique[J].Acta Academiae Medicinae Sinica, 2006, 28(6): 837-839. (actacams.com)
- The Mage family of genes was first identified as tumor suppressors, but some, including Maged1, are active in healthy cells and tissues, including the developing and adult central nervous system. (genengnews.com)
- Neurexin 1 is part of a three-member family of genes coding for proteins involved in communication between neurons. (scientificamerican.com)
- The UDP-glucuronosyltransferase (UGT) family of genes mediates glucuronidation activity, and we previously examined polymorphisms in UGTs that might account for the variability in NNAL glucuronidation. (aacrjournals.org)
- An example is the bdr family of genes in B. burgdorferi (6) . (cdc.gov)
- DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. (ox.ac.uk)
- 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)
- In , 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)
- But results showed large-scale, unintended DNA deletions and rearrangements in the areas surrounding the targeted sequence. (the-scientist.com)
- Using a DNA microarray, or gene chip, the team was able to scan large stretches of sequence for tiny deletions common within the study families. (scientificamerican.com)
- In the two-fold analysis, the researchers implicated the gene neurexin 1 , located on chromosome 2, as well as a swath of sequence on chromosome 11. (scientificamerican.com)
- Play media Each acid-sensing ion channel is composed of a 500-560 amino acid sequence, which is constructed into a six transmembrane segment-two per subunit (TMD1 and TMD2), a cytoplasmic amino-carboxyl termini, and a large extracellular domain. (wikipedia.org)
- Cancer-driving deletions disable tumor suppressors, and so far efforts to restore or replace the function of these deactivated genes, or turn them against cancer cells, have yet to show promising results," said co-lead author Florian Muller, Ph.D., an instructor in MD Anderson's Department of Genomic Medicine. (mdanderson.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)
- 16 If so, the effect of gene polymorphism should be examined within a large homogeneous population. (ahajournals.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)
- Our findings expand the number of large FBN1 deletions, and emphasize the importance of screening for large genomic deletions in connective tissue disorders featuring aortopathies, especially for those with classic Marfan phenotype. (beds.ac.uk)
- 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)
- Genomic deletions promote cancer by carving up or eliminating tumor-suppressor genes, but now scientists report in the journal Nature that the collateral damage they inflict on neighboring genes exposes cancer cells to vulnerabilities and new avenues for attack. (mdanderson.org)
- Early studies on the tumor-suppressor genes (TSGs) RB and TP53 suggested that such deletions can arise as a single mechanism for loss of heterozygosity and, consequently, it is often assumed that they provide a "second-hit" event to inactivate a single TSG ( 1 ). (pnas.org)
- Even in chromosomal regions where a bona fide "two-hit" TSG has been identified, the large deletions often associated with loss of heterozygosity reduce the dosages of neighboring genes, which could in principle contribute to tumorigenesis in a haploinsufficient manner. (pnas.org)
- The remainder (approximately 25%) present as a loss of heterozygosity in large genomic regions that include the NF1 gene (19, 20). (thefreelibrary.com)
- Variants in the NSDHL gene cause CHILD syndrome in humans, and the bare patches ( Bpa ) and striated ( Str ) phenotypes in mice. (g3journal.org)
- Our data imply that large cancer-associated deletions can produce phenotypes distinct from those arising through loss of a single TSG, and as such should be considered and studied as distinct mutational events. (pnas.org)
- The overall goal of the proposed project is to determine the fundamental phenotypes produced by the 22q11 deletion in neurons, and to identify the genes whose heterozygous deletion drives the development of these phenotypes. (stanford.edu)
- Although the majority of clinical cases are genetically undefined, several causative genes have been identified that encode known or putative glycosyltransferases in the biosynthetic pathway of dystroglycan. (jneurosci.org)
- The impaired function of specific organelles indicates that the causative genes encode proteins operative in the formation of lysosomes and vesicles. (medscape.com)
- Both genes encode for the enzyme enolase, which carries out a crucial step in glycolysis, the processing of glucose into energy that is particularly important to solid tumors. (mdanderson.org)
- These genes have splice variants that encode for several isoforms that are marked by a suffix. (wikipedia.org)
- The aim of the current study was to standardize multiplex ligation probe amplification (MLPA) method in screening of APC large deletions for the first time in Iranian patients with FAP. (cdc.gov)
- Method The large intragenic hMSH2 and hMLH1 deletions in 17 probands of HNPCC families were detected with multiplex ligation-dependent probe amplification（MLPA）and GeneMapper techniques. (actacams.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)
- 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)
- Seventy percent of transfected cells showed a slow DNA deletion as measured by PCR, and loss of Br-cAMP stimulated transcription. (frontiersin.org)
- That loop appears to be nested within a larger positive loop in which ActB is activated by the C signal via ActA, and the act operon activates transcription of the csgA gene. (asm.org)
- Generating a comprehensive map of molecular interactions in living cells is difficult and great efforts are undertaken to infer molecular interactions from large-scale perturbation experiments. (nature.com)
- In addition, direct interactions inferred from transcriptome data typically oversimplify the molecular complexity behind gene regulation, which frequently involves protein-protein interactions and modifications on protein or DNA level. (nature.com)
- Deletion of the CD20 gene is a molecular mechanism of CD20-negative relapse in a subset of DLBCL. (wiley.com)
- PCR assay for immunoglobulin (Ig) kappa (κ) chain gene rearrangement. (wiley.com)
- These data demonstrate that rearrangement and expression of the mu H chain gene is not absolutely required for kappa L chain gene rearrangement in vivo. (nih.gov)
- Expression of mu chains may facilitate either efficient L chain gene rearrangement or the survival of cells that have rearranged light chain genes by promoting the differentiation of large, CD43+ to small, CD43- pre-B cells. (nih.gov)
- In familial or sporadic CPHD cases, the most common causes are PIT1 and PROP1 gene defects [ 2 ]. (hindawi.com)
- The combination of additional features depends on which genes are included in the deletion, but can include an unusually small head (microcephaly), intellectual disability, heart defects, and growth delay. (nih.gov)
- Large deletions encompassing regions of chromosome 8p are very common in human tumors ( 2 , 3 ) and often occur together with 8q gains encompassing MYC ( 4 ). (pnas.org)
- Deletions at 13q14 also occur in ≈50% of mantle cell lymphoma, in 16-40% of multiple myeloma, and in 60% of prostate cancers ( 3 ), suggesting that one or more tumor suppressor genes at 13q14 are involved in the pathogenesis of these human tumors. (pnas.org)
- Five of these alterations were detected in large cell/anaplastic medulloblastomas or tumors with significant anaplasia. (nih.gov)
- Some brain tumors grow slowly and may become quite large before causing symptoms. (mdanderson.org)
- There was high concordance between IHC and FISH: 93% (3098/3330) of tumors with intact PTEN IHC showed absence of PTEN gene deletion and 66% (720/1087) of cases with PTEN protein loss by IHC showed PTEN gene deletion by FISH. (urotoday.com)
- If the C. albicans genes mediating virulence in the mouse model overlap those responsible for pathogenesis in humans, this model will be key to elucidating new targets for antimicrobial therapy. (asm.org)
- The common deletion of the glutathione S-transferase Mu 1 ( GSTM1 ) gene in humans has been shown to be involved in xenobiotic metabolism and associated with bladder cancer. (biomedcentral.com)
- We further showed experimentally that the GSTM1 was polymorphically deleted in both humans and also in chimpanzees, through independent deletion events. (biomedcentral.com)
- To generalize our results, we searched for genic deletions that are polymorphic in both humans and chimpanzees. (biomedcentral.com)
- However, these precursor B cells do assemble kappa L chain genes at a low level in the absence of mu H chain proteins. (nih.gov)
- Genes and proteins interact with themselves and each other and orchestrate the successful completion of a multitude of important tasks. (hindawi.com)
- This paper first looks at how the genes and proteins interact with themselves and then discusses the inference of an integrative cellular network of genes and proteins combined. (hindawi.com)
- Since the genes may be coding for TFs and/or other proteins, a complex network of genes and proteins is formed. (hindawi.com)
- ASIC's have a large, fist-like extracellular region that consumes most of the proteins structure. (wikipedia.org)
- C ) Deletion of either RPL31A or RPL6B , ribosomal proteins transcriptionally regulated by TOR, increases life span. (sciencemag.org)
- A ) Size and extent of chromosome 8p deletions (in blue) and amplifications (in red) from individual HCCs, breast cancers, colon cancers, and lung adenocarcinomas based on aCGH data analysis ( Materials and Methods ). (pnas.org)
- These deletions are found in hundreds of genes in many types of cancer, so our model for glioblastoma multiforme should apply to developing personalized treatments for other cancers as well," DePinho said. (mdanderson.org)
- 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)
- Two recent studies describe a linkage between the ACE locus and hypertension in a large number of hypertensive sibs. (ahajournals.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)
- The large chromosomal deletions frequently observed in cancer genomes are often thought to arise as a "two-hit" mechanism in the process of tumor-suppressor gene (TSG) inactivation. (pnas.org)
- However, using conventional methods of gene inactivation in the mouse, deletions in the megabase range are still difficult to reproduce. (nature.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)
- 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)
- We found that while loss of genes correlates with lack of expression, duplication of genes has virtually no effect on gene expression. (nih.gov)
- Overall, our results support the emerging notion that metabolizing gene families, such as the GSTM, NAT, UGT and CYP , have been evolving rapidly through gene duplication and deletion events in primates, leading to complex structural variation within and among species with unknown evolutionary consequences. (biomedcentral.com)
- Sequencing and large deletion/duplication analysis for single gene and large multigene panels. (aruplab.com)
- As most gene perturbation screens are incomplete-for example, owing to the fact that essential genes cannot be knocked out-we have in general the situation that a significant amount of interactions within an N -gene network are non-inferable, regardless of the amount of experimental replicates and the strength of perturbations. (nature.com)
- The principle of collateral vulnerability caused by passenger deletions of redundant essential genes provides the basis for a new approach to identify potential targets and develop targeted therapies," said MD Anderson President Ronald DePinho, M.D., senior author of the paper. (mdanderson.org)
- The imbalance between TCF-4 gene splicing isoforms with long and short reading frames is associated with RCC progression through the inhibition of the apoptotic pathway. (aacrjournals.org)
- We demonstrate for the first time that TCF-4 gene splicing isoforms and the Wnt signal pathway can induce progression of RCC by the inhibition of apoptosis and not by the induction of cell proliferation. (aacrjournals.org)
- Whether or not splicing isoforms of TCF-4 involved in the COOH-terminal region modulate the target genes of the Wnt signaling pathway remains unclear in RCC. (aacrjournals.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)
- In the remaining approximately 10% of constitutional NF1 microdeletions, the so-called atypical deletions, the REPs are not involved in generating the breakpoint (7, 9). (thefreelibrary.com)
- MLPA is a robust, inexpensive, simple technique that reliably detects both 5q35 microdeletions and partial NSD1 deletions that together account for ∼15% of Sotos syndrome. (bmj.com)