In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
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.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
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)
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.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Aberrant chromosomes with no ends, i.e., circular.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
Structures within the CELL NUCLEUS of insect cells containing DNA.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Any 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.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
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.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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).
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
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.
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)
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.
The possession of a third chromosome of any one type in an otherwise diploid cell.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
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.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
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.
Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.
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.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.
Genetic loci associated with a QUANTITATIVE TRAIT.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
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.
An aberration in which an extra chromosome or a chromosomal segment is made.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
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.
An individual having different alleles at one or more loci regarding a specific character.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
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)
Genotypic differences observed among individuals in a population.
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.
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.
The process by which a DNA molecule is duplicated.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
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.
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.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
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.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
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.
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.
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.
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
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.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
The relationships of groups of organisms as reflected by their genetic makeup.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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.
Established cell cultures that have the potential to propagate indefinitely.
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.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Genes that are located on the X CHROMOSOME.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
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.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Genes that influence the PHENOTYPE only in the homozygous state.
The functional hereditary units of BACTERIA.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
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.
An individual in which both alleles at a given locus are identical.
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
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.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The degree of replication of the chromosome set in the karyotype.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
The genetic complement of a plant (PLANTS) as represented in its DNA.
Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
Deoxyribonucleic acid that makes up the genetic material of fungi.
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
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.
DNA present in neoplastic tissue.
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.
Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.
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)
Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A characteristic symptom complex.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
Deoxyribonucleic acid that makes up the genetic material of plants.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
Proteins found in any species of bacterium.
DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A 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.
The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.
Genes that are located on the Y CHROMOSOME.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
The mechanisms by which the SEX of an individual's GONADS are fixed.
Deletion of sequences of nucleic acids from the genetic material of an individual.

11q23.1 and 11q25-qter YACs suppress tumour growth in vivo. (1/1929)

Frequent allelic deletion at chromosome 11q22-q23.1 has been described in breast cancer and a number of other malignancies, suggesting putative tumour suppressor gene(s) within the approximately 8 Mb deleted region. In addition, we recently described another locus, at the 11q25-qter region, frequently deleted in breast cancer, suggesting additional tumour suppressor gene(s) in this approximately 2 Mb deleted region. An 11q YAC contig was accessed and three YACs, one containing the candidate gene ATM at 11q23.1, and two contiguous YACs (overlapping for approximately 400-600 kb) overlying most of the 11q25 deleted region, were retrofitted with a G418 resistance marker and transfected into murine A9 fibrosarcoma cells. Selected A9 transfectant clones (and control untransfected and 'irrelevant' alphoid YAC transfectant A9 clones) were assayed for in vivo tumorigenicity in athymic female Balb c-nu/nu mice. All the 11q YAC transfectant clones demonstrated significant tumour suppression compared to the control untransfected and 'irrelevant' YAC transfected A9 cells. These results define two discrete tumour suppressor loci on chromosome 11q by functional complementation, one to a approximately 1.2 Mb region on 11q23.1 (containing the ATM locus) and another to a approximately 400-600 kb subterminal region on 11q25-qter.  (+info)

Leukemia translocation protein PLZF inhibits cell growth and expression of cyclin A. (2/1929)

The PLZF gene was identified by its fusion with the RARalpha locus in a therapy resistant form of acute promyelocytic leukemia (APL) associated with the t(11;17)(q23;q21) translocation. Here we describe PLZF as a negative regulator of cell cycle progression ultimately leading to growth suppression. PLZF can bind and repress the cyclin A2 promoter while expression of cyclin A2 reverts the growth suppressed phenotype of myeloid cells expressing PLZF. In contrast RARalpha-PLZF, a fusion protein generated in t(11;17)(q23;q21)-APL activates cyclin A2 transcription and allows expression of cyclin A in anchorage-deprived NIH3T3 cells. Therefore, cyclin A2 is a candidate target gene for PLZF and inhibition of cyclin A expression may contribute to the growth suppressive properties of PLZF. Deregulation of cyclin A2 by RARalpha-PLZF may represent an oncogenic mechanism of this chimeric protein and contribute to the aggressive clinical phenotype of t(11;17)(q23;q21)-associated APL.  (+info)

Retinoic acid, but not arsenic trioxide, degrades the PLZF/RARalpha fusion protein, without inducing terminal differentiation or apoptosis, in a RA-therapy resistant t(11;17)(q23;q21) APL patient. (3/1929)

Primary blasts of a t(11;17)(q23;q21) acute promyelocytic leukaemia (APL) patient were analysed with respect to retinoic acid (RA) and arsenic trioxide (As2O3) sensitivity as well as PLZF/RARalpha status. Although RA induced partial monocytic differentiation ex vivo, but not in vivo, As203 failed to induce apoptosis in culture, contrasting with t(15;17) APL and arguing against the clinical use of As203 in t(11;17)(q23;q21) APL. Prior to cell culture, PLZF/RARalpha was found to exactly co-localize with PML onto PML nuclear bodies. However upon cell culture, it quickly shifted towards microspeckles, its localization found in transfection experiments. Arsenic trioxide, known to induce aggregation of PML nuclear bodies, left the microspeckled PLZF/RARalpha localization completely unaffected. RA treatment led to PLZF/RARalpha degradation. However, this complete PLZF/RARalpha degradation was not accompanied by differentiation or apoptosis, which could suggest a contribution of the reciprocal RARalpha/PLZF fusion product in leukaemogenesis or the existence of irreversible changes induced by the chimera.  (+info)

Insertion of excised IgH switch sequences causes overexpression of cyclin D1 in a myeloma tumor cell. (4/1929)

Oncogenes are often dysregulated in B cell tumors as a result of a reciprocal translocation involving an immunoglobulin locus. The translocations are caused by errors in two developmentally regulated DNA recombination processes: V(D)J and IgH switch recombination. Both processes share the property of joining discontinuous sequences from one chromosome and releasing intervening sequences as circles that are lost from progeny cells. Here we show that these intervening sequences may instead insert in the genome and that during productive IgH mu-epsilon switch recombination in U266 myeloma tumor cells, a portion of the excised IgH switch intervening sequences containing the 3' alpha-1 enhancer has inserted on chromosome 11q13, resulting in overexpression of the adjacent cyclin D1 oncogene.  (+info)

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (5/1929)

Glycogen storage disease type 1b (GSD-1b) is proposed to be caused by a deficiency in microsomal glucose 6-phosphate (G6P) transport, causing a loss of glucose-6-phosphatase activity and glucose homeostasis. However, for decades, this disorder has defied molecular characterization. In this study, we characterize the structural organization of the G6P transporter gene and identify mutations in the gene that segregate with the GSD-1b disorder. We report the functional characterization of the recombinant G6P transporter and demonstrate that mutations uncovered in GSD-1b patients disrupt G6P transport. Our results, for the first time, define a molecular basis for functional deficiency in GSD-1b and raise the possibility that the defective G6P transporter contributes to neutropenia and neutrophil/monocyte dysfunctions characteristic of GSD-1b patients.  (+info)

Analysis of TSG101 tumour susceptibility gene transcripts in cervical and endometrial cancers. (6/1929)

Carcinoma of the uterine cervix is a common malignancy among women that has been found to show loss of heterozygosity in the chromosome 11p. Recent studies have localized the TSG101 gene in this region, and also demonstrated a high frequency of abnormalities of this gene in human breast cancer. To determine the role of the TSG101 gene in the carcinogenesis of cervical and uterine carcinoma, 19 cases of cervical carcinoma and five cases of endometrial carcinoma, as well as nearby non-cancerous tissue from the same patients, and 16 blood samples from healthy persons as normal control were analysed by Southern blot analysis of genomic DNA, reverse transcription of the TSG101 mRNA followed by PCR amplification and sequencing of the products. We found that abnormal transcripts of the TSG101 gene were common both in cancerous or non-cancerous tissues of the uterus and cervix and in normal peripheral mononuclear cells. There was no genomic deletion or rearrangement in spite of the presence of abnormal transcripts, and no definite relationship between the abnormal transcripts and HPV infection was found. Although the frequency of abnormal transcripts was higher in cancerous than in non-cancerous tissue, normal peripheral mononuclear cells also had abnormal transcripts. Given these findings, the role of the TSG101 gene as a tumour-suppressor gene should be re-evaluated. Because some aberrant transcripts could be found at the first PCR reaction, we suggest that the aberrant transcripts might be the result of imperfect minor splicesome products.  (+info)

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. (7/1929)

Derivative 22 (der[22]) syndrome is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional t(11;22)(q23;q11) translocation, owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. The trisomic region on chromosome 22 overlaps the region hemizygously deleted in another congenital anomaly disorder, velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Most patients with VCFS/DGS have a similar 3-Mb deletion, whereas some have a nested distal deletion endpoint resulting in a 1.5-Mb deletion, and a few rare patients have unique deletions. To define the interval on 22q11 containing the t(11;22) breakpoint, haplotype analysis and FISH mapping were performed for five patients with der(22) syndrome. Analysis of all the patients was consistent with 3:1 meiotic malsegregation in the t(11;22) carrier parent. FISH-mapping studies showed that the t(11;22) breakpoint occurred in the same interval as the 1.5-Mb distal deletion breakpoint for VCFS. The deletion breakpoint of one VCFS patient with an unbalanced t(18;22) translocation also occurred in the same region. Hamster-human somatic hybrid cell lines from a patient with der(22) syndrome and a patient with VCFS showed that the breakpoints occurred in an interval containing low-copy repeats, distal to RANBP1 and proximal to ZNF74. The presence of low-copy repetitive sequences may confer susceptibility to chromosome rearrangements. A 1.5-Mb region of overlap on 22q11 in both syndromes suggests the presence of dosage-dependent genes in this interval.  (+info)

Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting. (8/1929)

We previously reported the isolation of a 2.5 Mb tumor-suppressing subchromosomal transferable fragment (STF) from human chromosome 11p15 and the identification of nine known genes and four novel genes within this STF. We now report the isolation of two novel cDNAs, designated here as TSSC4 and TSSC6 (tumor-suppressing STF cDNA 4 and 6), located within the STF. TSSC4 and TSSC6 encode predicted proteins of 329 and 290 amino acids, respectively, with no close similarity to previously reported proteins. TSSC4 and TSSC6 are both located in the center of a 1 Mb imprinted domain, which contains the imprinted genes TSSC3, TSSC5, p57(KIP2), KVLQT1, ASCL2, IGF2 and H19. However, we found that neither TSSC4 nor TSSC6 was significantly imprinted in any of the fetal or extra-embryonic tissues examined. Based on this result, the imprinted gene domain of 11p15 appears to contain at least two imprinted subdomains, between which TSSC4 and TSSC6 substantially escape imprinting, due either to lack of initial silencing or to an early developmental relaxation of imprinting.  (+info)

Jacobsen Syndrome (11q Deletion, or 11q-) is a rare chromosomal abnormality which affects perhaps one child in 100,000 in which a portion of the 11th chromosome is missing. It was discovered by Dr. P. Jacobsen in 1973. At that time, the disease was named Jacobsen Syndrome.
Birštonas L, Dallemulle A, López-Berges MS, Jacobsen ID, Offterdinger M, Abt B, Straßburger M, Bauer I, Schmidt O, Sarg B, Lindner H, Haas H, Gsaller F (2020) Multiplex genetic engineering exploiting pyrimidine salvage pathway-based endogenous counterselectable markers. mBio 11(2), e00230-20. Details PubMed Open Access PDF Halder LD, Jo EAH, Hasan MZ, Ferreira-Gomes M, Krüger T, Westermann M, Palme DI, Rambach G, Beyersdorf N, Speth C, Jacobsen ID, Kniemeyer O, Jungnickel B, Zipfel PF, Skerka C (2020) Immune modulation by complement receptor 3-dependent human monocyte TGF-ß1-transporting vesicles. Nat Commun 11(1), 2331. Details PubMed Open Access PDF Ruben S, Garbe E, Mogavero S, Albrecht-Eckardt D, Hellwig D, Häder A, Krüger T, Gerth K, Jacobsen ID, Elshafee O, Brunke S, Hünniger K, Kniemeyer O, Brakhage AA, Morschhäuser J, Hube B, Vylkova S, Kurzai O, Martin R (2020) Ahr1 and Tup1 contribute to the transcriptional control of virulence-associated genes in Candida albicans. mBio 11(2), ...
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Winther, K. T., Thygesen, K. S., Jacobsen, K. W., Schiøtz, J., García de Abajo, F. J. & Puska, M. J.. 01/09/2011 → 13/08/2015 ...
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TY - JOUR. T1 - The two-domain hypothesis in Beckwith-Wiedemann syndrome. T2 - Autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster. AU - Cerrato, Flavia. AU - Sparago, Angela. AU - Di Matteo, Ines. AU - Zou, Xiangang. AU - Dean, Wendy. AU - Sasaki, Hiroyuki. AU - Smith, Paul. AU - Genesio, Rita. AU - Bruggemann, Marianne. AU - Reik, Wolf. AU - Riccio, Andrea. PY - 2005/2/15. Y1 - 2005/2/15. N2 - A large cluster of imprinted genes is located on the mouse distal chromosome 7. This cluster is well conserved in humans and its dysregulation results in the overgrowth- and tumour-associated Beckwith-Wiedemann syndrome. Two imprinting centres (IC1 and IC2) controlling different sets of genes have been identified in the cluster, raising the hypothesis that the cluster is divided into two functionally independent domains. However, the mechanisms by which imprinting of genes in the IC2 domain (e.g. Cdkn1c and Kcnq1) is regulated have not been well defined, and recent evidence ...
Shop Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein ELISA Kit, Recombinant Protein and Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein Antibody at MyBioSource. Custom ELISA Kit, Recombinant Protein and Antibody are available.
These groups, communities, or meeting places provide an opportunity for people with a common experience (such as a condition or disease, or a care-giving role) to share their concerns, and to seek and offer information and advice.
My husband John and I with our daughter Ashley attended our first WAGR weekend in July of 2010. During a deployment, John had found a web site about 11p- deletion, which our daughter Ashley was diagnosed with in 1988. He forwarded this information on to me and I quickly looked into it.. At the time of Ashleys diagnosis the doctor said that her chromosome deletion was rare with about 1 in 100,000 live births. She gave us some information and sent us on our way with numerous follow up appointments and referrals. As first time parents of a precious four month old, this type of news is devastating. There were no groups to support families; there were no support services for this diagnosis. I was very glad we had finally found a support group and that we were no longer alone.. Before attending this weekend, I had not met another child with the same diagnosis as Ashley.. What a great time we had at our first WAGR Weekend event. I had found a few people within this group on the internet and talked and ...
J:96366 Cerrato F, Sparago A, Di Matteo I, Zou X, Dean W, Sasaki H, Smith P, Genesio R, Bruggemann M, Reik W, Riccio A, The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster. Hum Mol Genet. 2005 Feb 15;14(4):503-11 ...
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Bucky Jacobsen news, information, rumors and injury updates. Also access the latest fantasy tips, trends, statistics, depth chart and more from KFFL.coms Hot off the Wire.
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OPEC is an organization in name only and its members are political entities who are motivated by political factors, says Wells Fargo Funds Brian Jacobsen.
There has been no treatment discovered for Jacobsen syndrome to date, but the symptoms can be treated. 56% of children with Jacobsen syndrome have congenital heart problems; to keep them in check, a baseline evaluation can be made by a paediatric cardiologist by carrying out an electrocardiogram or echocardiogram. Any problems that are found can be treated then. Almost all affected children are born with a bleeding disorder; monthly CBT may help ease the problem. Consecutively. platelet transfusion and ddAVP can be carried out. Medication that interferes with platelet count should be avoided, and oral contraceptive therapy may be considered for women with heavy bleeding during menses. Children affected with Jacobsen syndrome have severe to moderate intellectual disabilities and cognitive impairment. An evaluation by a neuropsychologist or a behaviour specialist like a psychiatrist or psychologist can be performed, including brain imaging like MRI or ERP. Later, as deemed appropriate, ...
Beckwith-Wiedemann syndrome (BWS) is a somatic overgrowth syndrome characterized by a variable incidence of congenital anomalies, including hemihyperplasia and renal malformations. BWS is associated with disruption of genomic imprinting and/or mutations in one or more genes encoded on 11p15.5, inclu …
Beckwith-Wiedemann syndrome (BWS) is a well-studied human overgrowth disorder, associated with visceromegaly, exomphalos, and predisposition to Wilms tumor and other pediatric cancers. BWS is a clinical syndrome, not a single disorder. Phenotypic heterogeneity is prominent, and we now appreciate that this reflects an underlying molecular heterogeneity. The syndrome can be caused by various molecular defects, which lead to altered expression of certain imprinted genes on chromosome 11p15. Multiple studies have revealed striking epigenotype-phenotype correlations, in which exomphalos tracks with one type of imprinting defect, affecting the CDKN1C gene, while Wilms tumor predisposition tracks with a different imprinting defect, affecting the IGF2 and H19 genes. Here we review the clinical and molecular features of BWS and summarize the data from these recent investigations. We also review the fascinating association of BWS with twinning, and discuss preliminary studies suggesting an increased ...
Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term hemihyperplasia has replaced the term hemihypertrophy to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor.. Hoyme et al. (1998) provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia.. Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome, neurofibromatosis, Proteus syndrome, and ...
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TY - JOUR. T1 - Molecular Rearrangements of 1,2,3-Triazolines, 7-Azido-6-fluoroquinolin-4-one Adducts with Alkenes. AU - Nagibina, N. N.. AU - Charushin, V. N.. AU - Sidorova, L. P.. AU - Klyuev, N. A.. PY - 1998/3/1. Y1 - 1998/3/1. UR - M3 - Article. AN - SCOPUS:0032359446. VL - 34. SP - 434. EP - 446. JO - Russian Journal of Organic Chemistry. JF - Russian Journal of Organic Chemistry. SN - 1070-4280. IS - 3. ER - ...
Our study of 97 infants with ALL (80/97 with MLL-R), accrued to COG Infant ALL Trial P9407, represents the largest cohort of infants reported to date to undergo gene expression profiling. The 5-year EFS among these infants was very poor (41%), with superior survivals seen among infants with MLL-G, age more than 90 days, and low WBC counts at disease presentation. Expression profiling initially identified a number of genes that were significantly associated with EFS in the infant cohort (EPS8, TACC2, FLT3, MEIS1, and IL1R2), including genes known to play a role in MLL-mediated leukemogenesis (MEIS1), tumor progression (STAB1), and therapeutic resistance in T-cell malignancies (KCNK12).24,25 Pathways analyses further demonstrated complex interaction patterns among these genes, all converging on the adaptor protein GRB2 that plays a critical role in tyrosine kinase and Ras cell-signaling pathways (detailed analysis in supplemental Figure 5).. Our final model predictive of outcome in the entire ...
Hemihyperplasia, also known as hemihypertrophy, is asymmetry in size between the right and left of the body, more than can be attributed to normal variation. Terminology Hemihyperplasia is more scientifically correct than hemihypertrophy as the...
Every year I look forward to WAGR weekend. It is a place where everyone is the same and you dont get looked at funny when your brother is screaming or going through another meltdown. When you are at WAGR Weekend you dont have to feel alone, because you are not the only family that is going through the meltdowns, temper and anger problems. WAGR weekend is a time when you can connect with other siblings that share and endure the same things as you. This year I was very lucky to spend time with Rockie. I loved that we could have fun together and share stories about our siblings. WAGR Weekend is a great way for families to connect with one another and to feel at home. I am very excited that my family is hosting WAGR Weekend again in 2011 and I hope to see everyone there!. Ashley Prusakiewicz, MI (sister to Nicholas, 14 years old). Reprinted from the WINGS newsletter, Fall/Winter 2010. ...
Here´s some information in English since there´s a lot of people looking at my blog who don´t understand Norwegian.. My son has Jacobsen Syndrome 11q24.1. He was born at 9 desember 2008 in pregnancy week 30. He was taken by surgery because he didn´t get enough nutrition. Leon was only 840 kilogram at birth.. Under the surgery Leon also got a bleeding in the brain and since his trombocytts was very low, there was danger for his life.. Leon did survive!! And we spent the next 4 months in the hospital. Leon needed blood and tromocytts every 2-3 days and there was times that the situation was critical.. Leon has short upper arms, thigts, finger, toes and neck. The doctores thought he maybe was a dwarf and they took a bloodsample of his cromosome. This is how they found out that Leon have Jacobsen Syndrome.. At this point, Leon has been home for 6 months and there hasn´t been any kind of infections or bleeding. The trombocytts is now at 68 and raising.. Leon has some problems with his eyes. He ...
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Complete information for CTTN gene (Protein Coding), Cortactin, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
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DTU udvikler teknologi for mennesker. Med vores forskning og uddannelser i international topklasse er vi med til at skabe en bedre verden, og vi bidrager til løsningen af de globale udfordringer formuleret i FNs 17 verdensmål for en bæredygtig udvikling.. H.C. Ørsted grundlagde DTU i 1829 med en klar vision om at udvikle og nyttiggøre naturvidenskab og teknisk videnskab til gavn for samfundet. Den vision lever den dag i dag. ...
If freedom only gets you out of religious obligation and not into Fathers life at a whole new level, it will be your ruin, not your release. (October 2003)
TY - JOUR. T1 - Molecular diagnosis of Beckwith-Wiedemann Syndrome using quantitative methylation-sensitive polymerase chain reaction. AU - Coffee, Bradford. AU - Muralidharan, Kasinathan. AU - Highsmith, William E.. AU - Lapunzina, Pablo. AU - Warren, Stephen T.. PY - 2006/10/1. Y1 - 2006/10/1. N2 - PURPOSE: Beckwith-Wiedemann Syndrome is caused by defects in imprinted gene expression at 11p15. Currently, quantitative Southern analysis using DNA methylation-sensitive restriction enzymes is used in molecular diagnosis of this syndrome. METHODS: We describe a rapid and highly quantitative test for assessing DNA methylation at 11p15 using sodium bisulfite treatment of genomic DNA coupled with quantitative TaqMan methylation-sensitive polymerase chain reaction. RESULTS: TaqMan MSP can assess DNA methylation at both differentially methylated region (DMR)1 and DMR2 at 11p15. In addition, by using TaqMan MSP we were able to determine the parent of origin of a duplication of 11p15 by quantification of ...
Joyce Penelope Jacobsen is Andrews professor of economics at Wesleyan University, Middletown, and past president of the International Association for Feminist Economics (IAFFE), her tenure was 2016 to 2017. Jacobsen is also an expert for the Institute for New Economic Thinking. Jacobsen earned her A.B. from Harvard University in 1982, and her Ph.D. from Stanford University in 1991. 2007 Binswanger Prize for Excellence in Teaching Jacobsen, Joyce P. (1982). Locational determinants of the U.S. insurance industry (A.B. thesis). Harvard University. OCLC 12190094. Jacobsen, Joyce P. (1991). Earnings and employment differences by race and sex, by economic sector (Ph.D. thesis). Stanford University. OCLC 38675868. Jacobsen, Joyce P.; Skillman, Gilbert L. (2004). Labor markets and employment relationships: a comprehensive approach. Malden, Massachusetts: Blackwell Publishing. ISBN 9780631208365. Jacobsen, Joyce P. (2007). The economics of gender (3rd ed.). Malden, Massachusetts: Blackwell Publishing. ...
To determine the relevance of genetic information on chromosome 11 in the development of metastatic breast tumors, we introduced a normal human chromosome 11 into the highly metastatic MDA-MB-435 breast carcinoma cell line via the microcell-mediated chromosome transfer technique. Although the MDA-MB-435 recipient cell line and four randomly selected microcell hybrid clones remained tumorigenic in nude mice, the hybrids were ,95% suppressed for metastasis to lung and regional lymph nodes (P , 0.01). We also tested whether chromosome 6 harbors a metastasis-suppressor gene for breast cancer as observed previously for human melanoma. Grouped together, the four neo6 microcell hybrids had no statistically significant reduction in the incidence or number of lung or lymph node metastases compared to the weakly metastatic, subcloned parent cell line, MDA-MB-435.7. Expression of nm23-H1 (NME1), a known metastasis-suppressor gene in this breast cancer cell line, did not correlate with metastasis ...
Natural History: Macroglossia and macrosomia are usually present at birth, although postnatal onset can occur. Neonatal hypoglycemia is common. Hemihyperplasia becomes more apparent as the child grows and may be limited to only one side of the body. Although cardiomegaly is common, it usually resolves on its own. Childhood malignancies and renal anomalies pose large health threats and mortality risks. After childhood, the complications for patients with BWS are infrequent ...
Most reported microdeletions of the CREB-binding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the 3 region of the gene. In order to test the hypothesis that the rate of microdeletion-posit …
NIH Rare Diseases : 50 chromosome 11q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 11. the severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. features that often occur in people with chromosome 11q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. chromosome testing of both parents can provide more information on whether or not the deletion was inherited. in most cases, parents do not have any chromosomal anomaly. however, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. the balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like ...
Paul L Jacobsen, MD is a Neurologist at 505 NE 87TH AVE STE 460, VANCOUVER, WA 98664. provides reviews, contact information, driving directions and the phone number for Paul L Jacobsen, MD in VANCOUVER, WA.
hemihyperplasia. // Tabers Cyclopedic Medical Dictionary;2005, p959 A definition of the medical term hemihyperplasia is presented. Hemihyperplasia refers to the excessive development of one side or one half of the body or of an organ. The word plassein means to form. The definition is from the Tabers Cyclopedic Medical Dictionary, published by F. A. Davis Co. ...
Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from 16 laboratorie
x-flowed,Dear Arabidopsis researchers, We are looking for a gl1 ems mutant (not a T-DNA), in the Columbia ecotype for doing some mapping experiments. Is anyone in possession of such an allele. Thank you Steve Jacobsen -- ______________________________________________________________________ Steve Jacobsen Department of MCD Biology UCLA P. O. Box 951606 jacobsen at Los Angeles, CA 90095-1606 (310) 825-0182 Lab Home page --- ,/x-flowed ...
Wilms tumor is a cancer of the kidneys that usually affects newborns and the very young. Fortunately, most kids with Wilms tumor survive and go on to live normal, healthy lives.
Wilms tumor is a cancer of the kidneys that usually affects newborns and the very young. Fortunately, most kids with Wilms tumor survive and go on to live normal, healthy lives.
Wilms Tumor in Telugu - ఈ వ్యాసములో, మీరు విల్మ్స్ ట్యూమర్ అంటే ఏమిటో తెలుసుకుంటారు. ఇంకా అది విల్మ్స్ ట్యూమర్ యొక్క వ్యాధినిర్ధారణ మరియు చికిత్సతో పాటుగా విల్మ్స్ ట్యూమర్ యొక్క లక్షణాలు మరియు కారణాల గురించి చెబుతుంది.
The Nature Portfolio Microbiology Community provides a forum for the sharing and discussion of ideas and opinions about microbiology. Through posts, discussion, image and video content, the community space can be used by members to communicate with each other, and with editors, about topics ranging from the science itself through to policy, society and day to day life. It is also a place to learn more about the activities of Nature Microbiologys editors and the policies and practices of the journal.. ...
Liz primarily sees patients at Methodist Hospital. She has been working with Dr. Penn since 2011. She was born and raised in Omaha, and is married with four children.. ...
Several studies have shown that a micro-duplication within 15q11-13 - a region on chromosome 15 - on the maternal chromosome is associated with autism.
The Novo Headquarters in Copenhagen was designed by the Danish architect and designerArne Jacobsen in 1935. The building was listed as an example of...
Yifytorrent.bests profile on CybrHome. Learn more about Yifytorrent or see similar websites. Find out Yifytorrent alternatives. Upvote and share, save it to a list or send it to a friend. Write a review about to share your experience.
When the state attempts to restrict any Constitutional right, it has the burden to prove both the necessity and the effectiveness of doing so.
Medical and environmental evaluations of a plant manufacturing sheet molded fiberglass reinforced plastic reveals xylene (1330207) concentrations in spray painting areas are not toxic to employees; fiberglass reinforced plastic dust is not present in toxic concentrations, but is the cause of active cases of dermatitis. Recommendations include use of protective clothing to minimize skin contact wit
Genes on human chromosome 11). ... The DNA sequence is 37,155 base pairs long and contains 7 exons ... Human CCDC82 genome location and CCDC82 gene details page in the UCSC Genome Browser. (CS1 errors: missing periodical, All ... The CCDC82 gene is expressed in nearly all of human tissues at somewhat low rates. As of today, there are no patents involving ... The molecular weight is 40.0 kdal and the isoelectric point is 4.383 CCDC82 is found in nearly all tissues in the human body, ...
Human gene SIGIRR is localized on chromosome 11. It is composed of 10 exons spanning about 11 700 base pairs. In mouse, this ... gene is on chromosome 7, where it is composed of 9 exons spanning about 9 400 base pairs. SIGIRR is 410 amino acids long ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 11). ... In human cells from colonic cancer, there was observed an increased expression of one variant of SIGIRR. This variant lacks its ...
It comprises 12 chromosomes pairs, about 26,000 genes and 750 million bp. This is roughly a quarter of the size of the human ... Jays were overwhelmingly the primary propagators of oaks before humans began planting them commercially (and still remain the ... Retrieved 2021-11-19. "The Plant List: A Working List of All Plant Species". Nixon, Kevin C. (1997). "Quercus robur". In Flora ... Archived from the original on 2019-11-01. Retrieved 2022-06-03. Fifty Trees of Distinction by Prof. D.A. Webb and the Earl of ...
... is a gene found on the 21st chromosome at 21q22.1. A total of thirteen splice variants have been found, but only eleven ... The most common form of CFAP298 mRNA has 1427 base pairs broken into seven exons. Its closest neighbors on the chromosome are ... June 2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 ... June 2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 ...
The human protein acid transporter (hPAT1) is 5585 base pairs long and codes for a protein 476 amino acids long. The ... The hPAT1 gene is located on chromosome 5q31-33 and has 11 exons that are coding regions. Its translation site begins in exon 2 ... The SLC36 family of genes maps to chromosome 11. The diversity of these receptors is vast, with the ability to transport both ... In humans, similar expression patterns are observed and their function correlates to their location anatomically. Being located ...
Genes on human chromosome 11, Uncharacterized proteins). ... It consists of 1732 base pairs, and is found on the plus strand ... Chromosome 11 open reading frame 86, also known as C11orf86, is a protein-coding gene in humans. It encodes for a protein known ... "C11orf86 chromosome 11 open reading frame 86 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2016-05-09 ... The transcript used for this article is made up of two exons, amounting to 1185 base pairs, and has the reference number NM_ ...
... is a human protein that is encoded by the C3orf30 gene located on the forward strand of human chromosome three, open reading ... The mRNA of TEX55 is 1800 base pairs long and has three exons. According to GeneCard, the TEX55 mRNA has 3 theoretical splice ... Expression of TEX55 mRNA can be found in most tissues in the human body, from the brain to the prostate. However, the protein ... Analysis done by the Human Protein Atlas indicates that the TEX55 protein can be found not only in the testis, but also the ...
1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most ... Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12 ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ... In humans, it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and ...
Genes on human chromosome 11). ... It is 734 base pairs long and found far upstream of the coding ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... TMEM126 is located on the long arm of chromosome 11 in humans. It is found on the first sub-band of the fourth band within the ... TMEM126A has two isoforms and is found on the long arm of Chromosome 11 in region 1, band 4, sub-band 1. It is produced by the ...
The human CCND1 gene is located on the long arm of chromosome 11 (band 11q13). It is 13,388 base pairs long, and translates ... Fantl V, Smith R, Brookes S, Dickson C, Peters G (1993). "Chromosome 11q13 abnormalities in human breast cancer". Cancer ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 11, CS1: long volume ... within the amplified chromosome 11q13 region in human carcinomas". Oncogene. 7 (2): 355-61. PMID 1532244. Seto M, Yamamoto K, ...
CS1 errors: missing periodical, CS1 maint: url-status, Genes on human chromosome 11). ... It spans across 2,394 base pairs of DNA and produces an mRNA that is 646 base pairs long. This gene is expressed at a very high ... "Human hg38 chr11:62,662,817-62,665,210 UCSC Genome Browser v424". Retrieved 2021-12-16. "Human hg38 chr11: ... "C11orf98 chromosome 11 open reading frame 98 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2021-10-04 ...
The gene locus is located on the long arm of chromosome 2 at 2q21.1, and spans 5991 base pairs. A common alternative alias is ... In humans, CCDC74A has one important paralog, CCDC74B. Gene duplication is estimated to have occurred approximately 7 million ... Coiled-coil domain containing 74A is a protein that in humans is encoded by the CCDC74A gene. The protein is most highly ... However, distant orthologs prior to gene duplication are conserved in species that diverged from humans between 92-797 MYA. ...
... maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108-13. doi:10.1006/geno.1996.4558. PMID ... Paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene. This gene encodes a member of the RIEG/PITX ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 5, Wikipedia articles ... October 2011). "Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice". Human Molecular ...
It has 4,591 base pairs with 8 exons, and it is located on the minus strand of chromosome 11, at 11q13.2, in humans. There are ... which is located on human chromosome 19. YIF1A has 238 identified orthologs. The ortholog contains vertebrates such as mammals ... "Human BLAT Search". Retrieved 2020-07-02. Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method ... Jin C, Zhang Y, Zhu H, Ahmed K, Fu C, Yao X (August 2005). "Human Yip1A specifies the localization of Yif1 to the Golgi ...
This 1069 base pair promoter sequence spans 41936535-41937603 on human chromosome 4. The promoter sequence overlaps with the 5 ... Eleven different mRNA transcript variants of TMEM33 exist, 9 alternatively spliced variants and 2 unspliced forms. Only 5 ... In humans, this gene's DNA location is the short arm of chromosome 4, loci position: 4p13. The genomic range is 41937502- ... Transcripts a, b, and c have a 744 base pair long coding range and a particularly long 3' UTR that is 6000 base pairs long. In ...
The 48-base pair VNTR has been the subject of much speculation about its evolution and role in human behaviors cross-culturally ... The human protein is coded by the DRD4 on chromosome 11 located in 11p15.5. There are slight variations (mutations/ ... polymorphisms) in the human gene: A 48-base pair VNTR in exon 3 C-521T in the promoter 13-base pair deletion of bases 235 to ... Genes on human chromosome 11, Wikipedia articles needing clarification from December 2018, Wikipedia articles incorporating ...
Genes on human chromosome, Genes on human chromosome 1, Human proteins, Genetics). ... which contains eleven family members of chaperone proteins. HSPB7 and its gene pair SRARP are located 5 kb apart on the ... in humans is a protein encoded by a gene of the same name with four exons that is located on chromosome 1p36.13.,. HSPB7 ... human)]". The National Center for Biotechnology Information.{{cite web}}: CS1 maint: url-status (link) "HSPB7_HUMAN". UniProt ...
... is located at 15q11.2 on chromosome 15 in humans and is transcribed from the reverse DNA strand. POTEB is also known as ... The POTEB gene is 47,547 base pairs in length and is composed of 11 exons. The POTEB gene can be transcribed to create four ... POTEB has 8 predicted paralogs (According to protein sequence) in humans, with most paralogs being located on different human ... "Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells". Stem Cells and Development. 17 (2): 325- ...
... contains a single circular chromosome of 1,587,646 base pairs. B. quintana is a fastidious, aerobic, Gram-negative(-), pole rod ... Its primary vector is known to be Pediculus humanus variety corporis, also known as the human body louse. It was first known to ... Although lice are animal vectors, humans (and some other primates) are the only known animal reservoir hosts for this bacterium ... Hadfield, T.L.; Warren, R.; Kass, M.; Brun, E.; Levy, C. (1993). "Endocarditis caused by Rochalimaea henselae". Human Pathology ...
... genomes are typically about 1.5Gb, approximately 1/2 the size of the human genome. The Christmas Island blue-tailed skink ... Despite making up 15% of reptiles, skinks have a relatively conserved chromosome number, between 11 and 16 pairs. ... Kostmann, Alexander; Kratochvíl, Lukáš; Rovatsos, Michail (2021-01-27). "Poorly differentiated XX/XY sex chromosomes are widely ... Despite having sex chromosomes that are not distinguishable with a microscope, all major skink lineages share an old XY system ...
Genes on human chromosome 7). ... It has 10,074 base pairs and has a total of 11 exons. TMEM176A ... The gene is found on the minus end of Chromosome 7, on the long arm at position 7q36.1. The starting position of the gene is at ... Transmembrane Protein 176B, or TMEM176B is a transmembrane protein that in humans is encoded by the TMEM176B gene. It is ... Danielle Thierry-Mieg and Jean Thierry-Mieg, . "Aceview: Geneid:TMEM176B, A Comprehensive Annotation Of Human, Mouse And Worm ...
CS1 errors: missing periodical, Genes on human chromosome 1, Human proteins). ... The MORN1 gene is located on Chromosome 1 at locus 1p36.33 and contains 7 MORN repeats. It has 1641 base pairs in 14 exons in ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene. The function of Morn1 ...
... is located on the negative strand of chromosome 12 (12p12.3) and spans 10,460 base pairs (chr12:14,803,723-14,814,182). ... Single-pass membrane and coiled-coil domain-containing protein 3 is a protein that is encoded in humans by the SMCO3 gene. ... The promoter region of SMCO3 is 1,100 base pairs long and begins 961 base pairs upstream of the 5' UTR with the end of the ... The mRNA transcript of SMCO3 is 2,104 base pair long. There are no mRNA variants of SMCO3. The SMCO3 promoter has many ...
... is a protein in humans that is encoded by the chromosome 4 open reading frame 47 (c4orf47) gene. The c4orf47 gene is ... positioned at 4q35.1 on the plus strand and spans 44,602 base pairs in length (185,405,227...185,449,828). The gene is made up ... Retrieved 4 October 2021.{{cite web}}: CS1 maint: url-status (link) "C4orf47 chromosome 4 open reading frame 47 [Homo sapiens ( ... 2 July 2021.{{cite journal}}: CS1 maint: url-status (link) "Homo sapiens chromosome 4 open reading frame 47 (C4orf47), ...
GXP_9794292 is 1040 base pairs in length spanning from base pair 23,758,601 to 23,759,640 on chromosome 22, while GXP_6747563 ... in humans, is encoded by the C22orf15 gene. The locus of C22orf15 in humans is on the long arm (q) of chromosome 22 in region ... "C22orf15 chromosome 22 open reading frame 15 [ Homo sapiens (human) ]". NCBI gene. U.S. National Library of Medicine. "C22orf15 ... "C22orf15 chromosome 22 open reading frame 15 [ Homo sapiens (human) ]". NCBI gene. U.S. National Library of Medicine. "C22orf15 ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Genes on human chromosome 1, Webarchive template wayback links). ... MutS protein homolog 4 is a protein that in humans is encoded ... indicating that it is not needed for establishing the preceding stages of pairing and synapsis of homologous chromosomes. In an ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ...
The human tafazzin gene is over 10,000 base pairs in length, the full-length mRNA, NM_000116, being 1919 nucleotides long, ... It is located at Xq28; the long arm of the X chromosome. This explains the X-linked nature of Barth Syndrome. There are some ... Human Gene Therapy. 30 (2): 139-154. doi:10.1089/hum.2018.020. ISSN 1043-0342. PMC 6383582. PMID 30070157. "Gene therapy for ... 42 (11): 1994-9. doi:10.1016/j.jacc.2003.06.015. PMID 14662265. Vreken P, Valianpour F, Nijtmans LG, et al. (December 2000). " ...
Chromosome 15 open reading frame 52 is a human protein encoded by the C15orf52 gene, its function is poorly understood. ... The linear mRNA is 5344 base pairs long. The mRNA contains a short 5' untranslated region of 15 base pairs and a long 3' ... C15orf52 is a gene located on the reverse strand of chromosome 15 in the species Homo sapiens at locus 15q15.1. The gene is ... Glycine and Arginine were found at higher frequencies than other proteins in humans. The isoelectric point of the protein is ...
A gene on chromosome A1, the lysophosphatidic acid receptor 6 (LPAR6), was identified to have a 4 base pair deletion. This ... In humans, LPAR6 mutations result in a form of ectodermal dysplasia characterised by a woolly hair phenotype. The Cornish Rex ... Genome-wide analyses were performed in the Cornish Rex breed and in 11 phenotypically diverse breeds and two random bred ...
The human gene product is a 4,469 base pair mRNA with 25 predicted exons. There are 9 predicted splice isoforms of the gene, ... TMEM63A is located on the negative DNA strand of chromosome 1 at location 1q42.12, spanning base pairs 226,033,237 to ... "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain ... The predicted promoter region spans 971 base pairs, from 226,070,920 to 226,069,950 on the negative strand of chromosome 1. ...
... known interacting protein pairs) and a negative set (non-interacting protein pairs) is needed for the development of a ... The Conserved Neighborhood method is based on the hypothesis that if genes encoding two proteins are neighbors on a chromosome ... Prediction databases include many PPIs that are predicted using several techniques (main article). Examples: Human Protein- ... and humans.[44] In such studies, numerous mutations defective in the same gene were often isolated and mapped in a linear order ...
UniProt employs an "organism mnemonic" of not more than five alphanumeric characters, e.g., HUMAN for H. sapiens.[115] ... Reproductive isolation is threatened by hybridisation, but this can be selected against once a pair of populations have ... sets of chromosomes) and allozymes (enzyme variants).[46] ... using regions of about 10,000 base pairs. With enough data from ... Conserving Biodiversity in Human-Dominated Landscapes. Washington: Island Press. pp. 150-163. Archived from the original on 7 ...
Other designs may include a line along the bridge of the nose, or a single pair of small symmetical dots on the cheeks. ... Jared Diamond, 'Guns, Germs, and Steel: The Fates of Human Societies' (1997) Chapter 19 ... "Y-Chromosome Variation Among Sudanese: Restricted Gene Flow, Concordance With Language, Geography, and History" Archived 2016- ...
Therman, Eeva (১৯৮০)। Human Chromosomes: Structure, Behavior, Effects। Springer US। পৃষ্ঠা 112-24। আইএসবিএন 978-1-4684-0109-7। ... Machin, GA (জানুয়ারি ১৯৯৬)। "Some causes of genotypic and phenotypic discordance in monozygotic twin pairs"। American Journal ... "Human Anatomy"। Inner Body। সংগ্রহের তারিখ ৬ জানুয়ারি ২০১৩।. *↑ Parker-Pope, Tara (অক্টোবর ২৭, ২০০৯)। "The Human Body Is Built ... "The Science Behind the Human Genome Project"। Human Genome Project। US Department of Energy। ২ জানুয়ারি ২০১৩ তারিখে মূল থেকে ...
Empathy allows humans to experience love and to build bonds. The moral that humans gain from empathy allow them to repair and ... Throughout much of the life course, it serves mate choice, courtship, sex, and pair-bonding functions. It is a suite of ... Evolution of human music through sexual selection by G. F. Miller in N. L. Wallin, B. Merker, & S. Brown (Eds.), The origins of ... The Mating Mind: How Sexual Choice Shaped the Evolution of Human Nature Archived 15 May 2007 at the Wayback Machine by Geoffrey ...
"Human Molecular Genetics. 10 (16): 1665-71. doi:10.1093/hmg/10.16.1665. PMID 11487570.. ... One sensitive method is ELISA which is an immunosorbent assay which utilizes a pair of antibodies that recognize amyloid beta.[ ... The gene for the amyloid precursor protein is located on chromosome 21, and accordingly people with Down syndrome have a very ... To date, human testing has been avoided due to concern that it might interfere with signaling via Notch proteins and other cell ...
"List Of All Transcription Factors In Human". *^ Gill G (2001). "Regulation of the initiation of eukaryotic ... Transcription factors (like all proteins) are transcribed from a gene on a chromosome into RNA, and then the RNA is translated ... Pairs of transcription factors and other proteins can play antagonistic roles (activator versus repressor) in the regulation of ... There are up to 1600 TFs in the human genome.[3] Transcription factors are members of the proteome as well as regulome. ...
Anatomy of the Human Body. Chap. IX: Neurology. 22th Edition (en anglès). Lea & Febiger, Philadelphia, 1918 [Consulta: 3 ... Ambros IM, Zellner A, Roald B, Amann G, et al «Role of ploidy, chromosome 1p, and Schwann cells in the maturation of ... XI parell cranial Nervi accessori espinal Mixt Innervació múscul trapezi i esternocleidomastoïdal ... Trochet, D; Bourdeaut, F; Janoueix-Lerosey, I; Deville, A; et al «Germline Mutations of the Paired-Like Homeobox 2B (PHOX2B) ...
Males ordinarily have a ZZ pair of sex-determining chromosomes, and females a ZW pair. However, the Colombian Rainbow boa ( ... Interactions with humans. Most common symptoms of any kind of snake bite envenomation.[109][110] Furthermore, there is vast ... Some species retain a pelvic girdle with a pair of vestigial claws on either side of the cloaca. Lizards have evolved elongate ... In some snakes, most notably boas and pythons, there are vestiges of the hindlimbs in the form of a pair of pelvic spurs. These ...
For the human species, whose genome includes 22 pairs of autosomes and 2 sex chromosomes, a complete genome sequence will ... "Potential Benefits of Human Genome Project Research". Department of Energy, Human Genome Project Information. 2009-10-09. ... For a bacterium containing a single chromosome, a genome project will aim to map the sequence of that chromosome. ... For humans, this will allow us to better understand aspects of human genetic diversity. ...
"American Journal of Human Genetics. 74 (5): 1043-50. doi:10.1086/386293. PMC 1181967. PMID 15042511.. ... Heterozygous mutations in PAX9 (paired box gene 9) could arrest tooth morphogenesis as it plays a role of transcription the ... "A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1". American Journal of ... "Journal of Human Genetics. 51 (3): 262-6. doi:10.1007/s10038-005-0353-6. PMID 16432638.. ...
Zhang Z, Gerstein M (2004). "Large-scale analysis of pseudogenes in the human genome". Curr. Opin. Genet. Dev. 14 (4): 328-35. ... Radding C (1982). "Homologous pairing and strand exchange in genetic recombination". Annu. Rev. Genet. 16 (1): 405-37. doi: ... "Genome fragment of Wolbachia endosymbiont transferred to X chromosome of host insect". Proc. Natl. Acad. Sci. U.S.A. 99 (22): ... Is the human race evolving or devolving? Scientific American July 20, 1998. ...
A 2007 study flow sorted camel chromosomes, building on the fact that camels have 37 pairs of chromosomes (2n=74), and found ... 2007). "Cross-species chromosome painting among camel, cattle, pig and human: further insights into the putative ... When humans first domesticated camels is disputed. Dromedaries may have first been domesticated by humans in Somalia or South ... The Y is a small metacentric chromosome, while the X is a large metacentric chromosome.[52] ...
An additional pair was released to increase genetic diversity in 2016.[62][63] As part of a scientific study, a pair of ... The difference in chromosome count makes interspecific breeding unlikely in areas where the two species' ranges overlap.[3] ... The Eurasian beaver is recovering from near extinction, after depredation by humans for its fur and for castoreum, a secretion ... On 19 November 2011, a pair of beaver sisters was released into a 2.5-acre (1 ha) enclosure at Blaeneinion,[97] A colony of ...
Number of chromosomes. 24 pairs. Year of completion. 2011. Orangutans have 48 chromosomes.[23] The Sumatran orangutan genome ... This remains the only known case, but raises the question of why the known human cure for Streptococcus was ineffective in this ... They are extremely large animals, weighing between 50 and 90 kilograms, roughly the weight of a fully grown human. They have a ... The orangutan genome also has fewer rearrangements than the chimpanzee/human lineage.[24] ...
The first ten classes follow the number of stamens directly (Octandria have 8 stamens etc.),[109] while class eleven has 11-20 ... Flowers that reflect the full range of visible light are generally perceived as white by a human observer. An important feature ... they are often paired with an external vector.[94] ... two copies of each chromosome) cell.[78] ... Humans observers will perceive this as degrees of saturation (the amount of white in the color). ...
The haploid genome is about three billion base pairs long (3,000 Mb distributed over 19 autosomal chromosomes plus 1 ... Mice differ from humans in several immune properties: mice are more resistant to some toxins than humans; have a lower total ... respectively 2 sex chromosomes), therefore equal to the size of the human genome.[citation needed] Estimating the number of ... The current count of primary coding genes in the laboratory mouse is 23,139.[12] compared to an estimated 20,774 in humans.[12] ...
When the chromosome is replicated, this gives rise to one daughter chromosome that is heavily methylated downstream of the ... In MMEJ repair of a double-strand break, an homology of 5-25 complementary base pairs between both paired strands is sufficient ... In human cells, and eukaryotic cells in general, DNA is found in two cellular locations - inside the nucleus and inside the ... In human cells, oxidative DNA damage occurs about 10,000 times a day and DNA double-strand breaks occur about 10 to 50 times a ...
Stewart, Dugald (1792). Elements of the philosophy of the human mind (1 ed.). p. 80. Retrieved 14 April 2022.. ... These conditions are mediated by the OPN1SW gene on Chromosome 7. Other genetic causes[edit]. Several inherited diseases are ... Confusion colors are pairs or groups of colors that will often be mistaken by the colorblind. Confusion colors for red-green ... "Human Vision and Color Perception". Florida State University. Archived from the original on 27 August 2007. Retrieved 5 April ...
For example, in the Homininae, two chromosomes fused to produce human chromosome 2; this fusion did not occur in the lineage of ... HIV resistance: a specific 32 base pair deletion in human CCR5 (CCR5-Δ32) confers HIV resistance to homozygotes and delays AIDS ... In humans, the mutation rate is about 50-90 de novo mutations per genome per generation, that is, each human accumulates about ... Ségurel L, Bon C (August 2017). "On the Evolution of Lactase Persistence in Humans". Annual Review of Genomics and Human ...
In humans, DNA polymerase theta, encoded by the POLQ gene, plays a central role in microhomology-mediated end joining.[7] ... MMEJ is frequently associated with chromosome abnormalities such as deletions, translocations, inversions and other complex ... often 5-25 base pairs, between the two strands. A specialized form of MMEJ, called polymerase theta-mediated end-joining (TMEJ ... Human homologous recombination factors suppress mutagenic MMEJ following double-strand break resection.[8] ...
Svendsen G. E. (1989). "Pair formation, duration of pair-bonds, and mate replacement in a population of beavers (Castor ... Relationship with humans[edit]. As introduced non-native species[edit]. See also: Beaver eradication in Tierra del Fuego ... North American beavers have 40 chromosomes, while European beavers have 48. Also, more than 27 attempts were made in Russia to ... Although the fur enterprise failed, 25 mating pairs of beavers were released into the wild. Having no natural predators in ...
... are found on chromosomes 22 and 2 in humans. One of these domains is called the variable domain, which is present in each heavy ... whose flexibility allows antibodies to bind to pairs of epitopes at various distances, to form complexes (dimers, trimers, etc ... In humans and most mammals, an antibody unit consists of four polypeptide chains; two identical heavy chains and two identical ... Rhoades RA, Pflanzer RG (2002). Human Physiology (5th ed.). Thomson Learning. p. 584. ISBN 978-0-534-42174-8. .. ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... It is widely cultivated as a crop for human consumption, and also as a cover crop. Varieties with smaller, harder seeds that ... Beans generally contain phytohaemagglutinin, a lectin that occurs naturally in plants, animals, and humans.[18] Most of the ...
"The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East". The American Journal of Human Genetics. 69 ... M. Avi-Yonah, The Jews under Roman and Byzantine Rule, Jerusalem 1984 chapters XI-XII ... that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired diaspora host populations. ... "Human Biology Open Access Pre-Prints. 85 (6).. *^ Eva Fernández; Alejandro Pérez-Pérez; Cristina Gamba; Eva Prats; Pedro Cuesta ...
"The terminal deoxynucleotidyltransferase gene is located on human chromosome 10 (10q23----q24) and on mouse chromosome 19". ... This occurs optimally with a one base-pair break between strands and less so with an increasing gap. This is facilitated by a ... "Chromosome localization of the gene for human terminal deoxynucleotidyltransferase to region 10q23-q25". Proceedings of the ... In humans, terminal transferase is encoded by the DNTT gene.[5][6] As a member of the X family of DNA polymerase enzymes, it ...
The International System for Human Cytogenomic Nomenclature (ISCN) is an international standard for human chromosome ... It shows 22 homologous autosomal chromosome pairs as well as both the female (XX) and male (XY) versions of the two sex ... symbols and abbreviated terms used in the description of human chromosome and chromosome abnormalities. Abbreviations include a ... Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities. It shows dark and ...
... hae 64 chromosomes.[35] The horse genome wis sequenced in 2007. It conteens 2.7 billion DNA base pairs,[36] that is ... Horse are nae ruminants, thay hae anerly oane painch, lik humans, but unlik humans, thay can utilize cellulose, a major ... The exterior huif waw an horn o the sole is made o keratin, the same material as a human fingernail.[60] The end result is that ... Unlik humans, horse dae nae sleep in a solit, unbroken period o time, but tak mony short periods o rest. Horse spend fower tae ...
displaystyle f_{Y}(y)=\int _{-\infty }^{\infty }f_{Y,X=\xi }(y)f_{X}(\xi )\,d\xi .}. Bayes' rule in odds form[edit]. Bayes' ... The pair of derivative inverted conditional opinions is denoted (. ω. A. ,. ~. B. S. ,. ω. A. ,. ~. ¬. B. S. ). {\displaystyle ... Allen, Richard (1999). David Hartley on Human Nature. SUNY Press. pp. 243-4. ISBN 978-0-7914-9451-6. . Retrieved 16 June 2013. ... located on the q arm of chromosome 7.[30] ... denotes a pair of binomial conditional opinions given by source ...
In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13). This bifunctional enzyme has ... In Salmonella typhimurium, a new pair of antiparallel β-sheets is created and five new interatomic contacts are formed in the ... Portal: Biology (Genes on human chromosome 3, EC 4.1.1, EC 2.4.2). ... "Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization". Genomics ...
Chromosome Aberrations* * Chromosomes, Human, Pair 11 / genetics* * DNA Methylation * Female * Fetal Death / genetics ... Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation Hum Genet. 2002 Sep; ... Patient 2 is a 4-year-old female with a derived chromosome 20, which arose from adjacent 1 malsegregation of a maternal t(11;20 ... p15.3;q13.33). Patient 3 presented as an intrauterine death with trisomy for the majority of chromosome 11p as a result of 3:1 ...
... or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the bodys genes. ... Humans typically have 23 pairs chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which ... National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National ...
Chromosomes, Human, Pair 11. 1. 2009. 423. 0.080. Why? Receptors, G-Protein-Coupled. 1. 2015. 1185. 0.080. Why? ...
Chromosomes, Human, Pair 7 12% * Sweat 11% * Splenomegaly 10% * Allogeneic Cells 10% ...
LGMD1D (note that some references call this LGMD1E) is caused by a mutation on chromosome 6 in the DES gene. [46] See below for ... Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005 Feb. 57(2):269-76. [QxMD MEDLINE Link] ... LGMD2V is caused by a mutation on chromosome 17 in the GAA gene (see Genetics of Glycogen-Storage Disease Type II (Pompe ... LGMD1E (note that some references call this LGMD1D) is caused by a mutation on chromosome 7 in the DNAJB6 gene (DNAJ/HSP40 ...
Humans have 23 pairs of chromosomes which are composed of genes, which are composed of DNA. Humans have around 20,000 genes on ... The human life in the womb has exactly the same number of chromosomes and genes as the mother and father and other humans, but ... Abortion kills this human being at an early stage of life and should be opposed by ethical human beings. To some it may also be ... Thoughtful humans innately know that human life is precious, and many vigorously oppose the death penalty for this reason. Even ...
Chromosomes, Human, Pair 2 Medicine & Life Sciences 10% * Gene Fusion Medicine & Life Sciences 4% ... Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of ... Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of ... Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of ...
In humans, autosomal chromosomes occur in pairs. As each member of chromosome 16 has two α gene loci (a locus refers to ... Factor XI (MW 160,000; 1/2 life 40-80 hours): F XI is activated by F XIIa in the presence of high molecular weight kininogen. ... The HLA or human leucocyte antigens are encoded by a cluster of genes on short arm of chromosome 6 called as major ... Structure of globin genes: Normal haemoglobin is a tetramer composed of a pair of α-like and a pair of β-like polypeptide ...
... by using 84 FVB-specific PCR microsatellite markers covering 19 chromosomes at ≈20-cM intervals, to select breeding pairs ... Selected congenic pairs were interbred to remove the endogenous murine PrP gene and to establish homozygosity of the human PrP ... Collinge J, Whitfield J, McKintosh E, Beck J, Mead S, Thomas DJ, Kuru in the 21st century-an acquired human prion disease with ... Wadsworth JD, Powell C, Beck JA, Joiner S, Linehan JM, Brandner S, Molecular diagnosis of human prion disease. Methods Mol Biol ...
Human, Pair 4" by people in this website by year, and whether "Chromosomes, Human, Pair 4" was a major or minor topic of these ... A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 4" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 4" by people in Profiles. ...
In the human genome, FURIN and FES are located adjacent to one another on the distal q arm of human chromosome 15 (HSA15) in ... Technical Abstract: Fragment of the porcine feline sarcoma oncogene (FES) gene and paired basic amino acid cleaving enzyme gene ... In the human genome, FURIN and FES are located adjacent to one another on human chromosome 15q26. These genes were expected to ... Title: MAPPING OF THE FES AND FURIN GENES TO PORCINE CHROMOSOME 7 Author. ERNST, C.W. ...
The human cell is a masterpiece of data compression. Its nucleus, just a few microns wide, contains six feet of DNA: helical ... Because the Y chromosome is passed from father to son with little mutation, and because surnames historically were passed down ... On May 5th, she identified the killer of Terri Lynn Hollis, an eleven-year-old who was murdered in California in 1972. The ... The team identified a pair of common ancestors four generations back, only to learn that the couple had fourteen children, ...
Chromosomes, Human, Pair 3 Medicine & Life Sciences 25% * Chromosomes, Human, Pair 11 Medicine & Life Sciences 24% ... The latter appears substantiated by recent advances in molecular genetics showing a linkage on chromosomes 11, 3, 7, and 4, ... The latter appears substantiated by recent advances in molecular genetics showing a linkage on chromosomes 11, 3, 7, and 4, ... The latter appears substantiated by recent advances in molecular genetics showing a linkage on chromosomes 11, 3, 7, and 4, ...
Humans have 23 pairs of chromosomes[65] that compromise our DNA, who we are. Each chromosome is tipped with stretches of DNA ... ... Given how far and wide humans have traveled for the secret to eternal life, it would be a fitting end to the search if the key ... Human immortality may still be beyond the reach of technology, but eternal life might be biologically possible. Or at least ...
Chromosomes, Human, Pair 11 38% * Victoria 36% 21 Citations (Scopus) 82 Downloads (Pure) ... Anatomy and physiology of the human eye: Effects of mucopolysaccharidoses disease on structure and function - a review. ... Angiographic and In Vivo Confocal Microscopic Characterization of Human Corneal Blood and Presumed Lymphatic Neovascularization ... A Comparative Genome-Wide Transcriptome Analysis of Glucocorticoid Responder and Non-Responder Primary Human Trabecular ...
Chromosomes, Human, Pair 13 Medicine & Life Sciences 11% View full fingerprint Cite this. * APA ... In: American journal of human genetics, Vol. 70, No. 1, 2002, p. 11-19.. Research output: Contribution to journal › Article › ... This high-bone-mass trait (HBM) was originally localized by linkage analysis to chromosome 11q12-13. We refined the interval by ... This high-bone-mass trait (HBM) was originally localized by linkage analysis to chromosome 11q12-13. We refined the interval by ...
Chromosomes, Human, Pair 11 75% * Chromosomes, Human, Pair 7 74% * Leptin 58% ... Linkage exclusion analysis of two candidate regions on chromosomes 7 and 11: Leptin and UCP2/UCP3 are not QTLs for obesity in ... Dive into the research topics of Linkage exclusion analysis of two candidate regions on chromosomes 7 and 11: Leptin and UCP2/ ...
Recognition of human gastrointestinal cancer neoantigens by circulating PD-1+ lymphocytes. J. Clin. Invest. 2019, 129, 4992- ... BRCA2 is located on chromosome 13q12-13 and is 3418 amino acids long. BRCA2 is characterized by a very large exon 11 containing ... a 1 base pair insertion, a premature stop codon, an 11 bp deletion, a missense mutation, and a putative regulatory mutation [1 ... First-in-human study of AZD5153, a small molecule inhibitor of bromodomain protein 4 (BRD4), in patients (pts) with relapsed/ ...
Chromosomes, Human, Pair 14 100% * Multiple Sclerosis 64% * Haplotypes 45% * Polymerase Chain Reaction 43% ... Cortes, A., Field, J., Glazov, E. A., Hadler, J., ANZgene Consortium, Stankovich, J. & Brown, M. A., 1 Jun 2013, In: Human ... Genome-wide association study identifies new multiple sclerosis susceptiblity loci on chromosomes 12 and 20. Bahlo, M., Booth, ... Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of ...
Chromosomes, Human, Pair 11 100% * African Continental Ancestry Group 76% * European Continental Ancestry Group 43% ... Keats, B. J. B., Morton, N. E. & Rao, D. C., Jan 1977, In: Human genetics. 39, 2, p. 157-159 3 p.. Research output: ... Rao, D. C. & Morton, N. E., 1973, In: American journal of human genetics. 25, 6, p. 594-597 4 p.. Research output: Contribution ... Longitudinal metabolomics of human plasma reveals prognostic markers of COVID-19 disease severity. Sindelar, M., Stancliffe, E. ...
Chromosomes, Human, Pair 14 42% * Chromosomes, Human, Pair 11 40% * Clinical Deterioration 39% ... Stein, B. L., Swords, R., Hochhaus, A. & Giles, F., Nov 2014, In: Leukemia. 28, 11, p. 2139-2147 9 p.. Research output: ... Swords, R., Apostolidou, E. & Giles, F., Oct 2006, In: Hematology. 11, 5-6, p. 321-329 9 p.. Research output: Contribution to ... 1016-1026 11 p.. Research output: Contribution to journal › Review article › peer-review ...
Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms tumor locus. Cell. Feb 1990. ... Ton CCT, Hirvonen H, Miwa H. Positional cloning and characterization of a paired box- and homeobox-containing gene from the ... Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A. Mar ... Subject A has a large deletion on chromosome 11 that removes one copy of the BDNF gene. Subject B has a smaller deletion that ...
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.. ... A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. ... Chromosomes, Human, Pair 11 - Preferred Concept UI. M0004419. Scope note. ... Chromosomes, Human, Pair 9 [A11.284.187.520.300.325.345] Chromosomes, Human, Pair 9 ...
Chromosome Deletion. en_US. dc.subject.mesh. Chromosomes, Human, Pair 11. en_US. ... Partial deletion of the long arm chromosome 11 in Jacobsen syndrome. Indian Journal of Pediatrics. 1986 Jan-Feb; 53(1): 123-6. ... Partial deletion of the long arm chromosome 11 in Jacobsen syndrome.. en_US. ...
Some human disorders are related to genomic imprinting, a phenomenon in mammals the place the father and mother contribute ... In this case, solely healthy twin pairs had been studied, however a variety of ages was represented, between three and seventy ... usually brought on by abnormalities in maternal genomic imprinting of a region on chromosome 11. ... from this study was that there is an age-dependent accumulation of epigenetic variations between the 2 siblings of dual pairs. ...
When we condition on chromosome 2 at 8.5 cM, the MLS for chromosome 20 increases to 5.50 at 69.0 cM (P=.0014). An ordered- ... We performed a genome scan at an average resolution of 8 cM in 719 Finnish sib pairs with type 2 diabetes. Our strongest ... American Journal of Human Genetics 67:1174-1185.. doi: 10.1016/S0002-9297(07)62948-6 ... Our next largest MLS is for chromosome 11 (MLS = 1.75 at 84.0 cM), followed by chromosomes 2 (MLS = 0.87 at 5.5 cM), 10 (MLS = ...
The only locus significant after correcting for multiple testing is located on chromosome 11p13. Three single nucleotide ... Aged, Aged, 80 and over, Chromosomes, Human, Pair 11, Cohort Studies, Eye Proteins, Female, Genome-Wide Association Study, ... The only locus significant after correcting for multiple testing is located on chromosome 11p13. Three single nucleotide ... Homeodomain Proteins, Humans, Male, Middle Aged, Nerve Tissue Proteins, Netherlands, Optic Disk, PAX6 Transcription Factor, ...
Chromosomes, Human, Pair 9 Medicine & Life Sciences 14% * Chromosomes, Human, Pair 11 Medicine & Life Sciences 13% ... notably on chromosomes 9, 11, 12, and 14, suggesting their involvement in tumorigenesis and metastasis of MM. These genes were ... notably on chromosomes 9, 11, 12, and 14, suggesting their involvement in tumorigenesis and metastasis of MM. These genes were ... notably on chromosomes 9, 11, 12, and 14, suggesting their involvement in tumorigenesis and metastasis of MM. These genes were ...
There are 23 pairs of chromosomes. Most human chromosomes have maternal and a paternal copy. We have 22 such pairs. These pairs ... There are 23 pairs of chromosomes in the cell of human body. Out of these, 22 pairs do not take part in sex-determination in ... human beings. The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. Women have a perfect pair ... Females have a pair of X chromosomes. All children inherit an X chromosome from their ; mother and X or X chromosome from ...
Kaninchen Polyklonal C1orf43 Antikörper AA 11-100 für IF (cc), IF (p). Order anti-C1orf43 Antikörper ABIN1693353. ... The gene encoding C1orf43 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and ... anti-Chromosome 1 Open Reading Frame 43 (C1orf43) (AA 179-228) antibody C1orf43 Reaktivität: Human, Affe WB Wirt: Kaninchen ... anti-Chromosome 1 Open Reading Frame 43 (C1orf43) (Middle Region) antibody C1orf43 Reaktivität: Human WB Wirt: Kaninchen ...
  • Chromosomes are made up of long strands of DNA, which contain all the body's genes. (
  • Humans have 23 pairs of chromosomes which are composed of genes, which are composed of DNA. (
  • Humans have around 20,000 genes on those 23 pairs. (
  • The human life in the womb has exactly the same number of chromosomes and genes as the mother and father and other humans, but in some unique combination of the parents' genes. (
  • The RMDN2 gene locates at the short arm of chromosome 2 between ALK and EML4 genes. (
  • Two genes feline sarcoma oncogene (FES) and paired basic amino acid cleaving enzyme gene (FURIN) were mapped in the genome of the pig. (
  • These genes were expected to map to a segment of pig chromosome 7 containing several QTL associated with body composition. (
  • Both genes mapped to the pig chromosome 7 within the confidence interval of the body composition QTL. (
  • Localizing these genes in the pig genome improves the human-pig comparative map thus facilitating identification of positional candidate genes to study which affect fat deposition. (
  • In the human genome, FURIN and FES are located adjacent to one another on the distal q arm of human chromosome 15 (HSA15) in the cytogenetic band q26.1 Genes located in this region are conserved on the proximal q arm of SSC7. (
  • In addition, FES and FURIN map within the confidence intervals of several putative QTL for pig fatness traits, and mapping of FES and FURIN to this region improves the human-pig comparative map for HSA15 and SSC7 thus facilitating identification of positional candidate genes. (
  • The latter appears substantiated by recent advances in molecular genetics showing a linkage on chromosomes 11, 3, 7, and 4, with identification of the genes for chromosomes 3 and 7. (
  • An ordered-subsets analysis based on families with high or low diabetes-related quantitative traits yielded results that support the possible existence of disease-predisposing genes on chromosomes 6 and 10. (
  • Using next-generation sequencing (NGS) technology, we detected asymmetrical expression of genes among the three cell lines, notably on chromosomes 9, 11, 12, and 14, suggesting their involvement in tumorigenesis and metastasis of MM. These genes were clustered into 41 categories based on their expression patterns, and their biological functions were analyzed using Ingenuity Pathway Analysis. (
  • In turn, this must mean the Y chromosome has lost 900-55 active genes over the 166 million years that humans and platypus have been evolving separately. (
  • At this rate, the last 55 genes will be gone in 11 million years . (
  • Kuroiwa's team discovered most of the genes on the Y of spiny rats had been relocated to other chromosomes. (
  • But this can't happen in humans or other mammals because we have at least 30 crucial "imprinted" genes that work only if they come from the father via sperm. (
  • Genes also come in pairs. (
  • Figure 2A shows the signal distribution along the long arm of chromosome 19 and a zoomin to an enriched region containing several ZNF repeat genes. (
  • Figure 3 shows the peak distribution in a genomic regions on chromosome 1 containing several ZNF repeat genes and in a genomic region surrounding the KCNQ1 imprinting control gene on chromosome 11 (figure 3A and B, respectively). (
  • This workflow searches for genes which reside in a QTL (Quantitative Trait Loci) region in Human, Homo sapiens. (
  • Unlike the rush to sequence the human genome, with the turkey interest is more on annotation - figuring out what genes do and how that can make farmers money - than in accumulating sequences from different individuals. (
  • Biologist Ann Gauger looked at one of the initially strongest arguments against Adam and Eve from human genetic diversity (HLA genes) and found the evidence is compatible with our descending from an initial couple. (
  • The interaction of genes with each other and with environmental factors underlies many aspects of human health and disease. (
  • These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (
  • Each chromosome has a set of genes. (
  • 2) Genes implicated in neuropsychiatric disorders are active in human fetal brain, yet difficult to study in a longitudinal fashion. (
  • The development of linkage disequilibrium (LD) maps is very important for understanding the nature of non-linear association between phenotypes and genes, as LD can be defined as the non-random segregation of a pair of alleles at polymorphic sites. (
  • Fragment of the porcine feline sarcoma oncogene (FES) gene and paired basic amino acid cleaving enzyme gene (FURIN) were amplified and terminally sequenced. (
  • The FES gene was mapped to chromosome 7 position 82 cM. (
  • The sex of human and other mammal babies is decided by a male-determining gene on the Y chromosome. (
  • But the human Y chromosome is degenerating and may disappear in a few million years, leading to our extinction unless we evolve a new sex gene. (
  • But the Y chromosome packs a punch because it contains an all-important gene that kick-starts male development in the embryo. (
  • It works by triggering a genetic pathway starting with a gene called SOX9 which is key for male determination in all vertebrates, although it does not lie on sex chromosomes. (
  • What they discovered was a tiny difference near the key sex gene SOX9, on chromosome 3 of the spiny rat. (
  • The new finding supports an alternative possibility - that humans can evolve a new sex determining gene. (
  • Localization of the gene for Cowden disease to chromosome 10q22-23. (
  • Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms tumor locus. (
  • The putative polypeptide is 141 amino acids long, identical to that of the α- or ζ-globin, but its predicted amino-acid sequence is nearly as different from the orang-utan α-globin (55 differences) as the human ζ-globin is from the human α-globin (59 differences), suggesting an ancient history for the θ1 -globin gene. (
  • Results of blot hybridization experiments using the cloned orang-utan θ1 gene sequence as probe demonstrate a similar α2-α1-θ1 linkage map existing in the human genome. (
  • Furthermore, multiple copies of sequences homologous to the θ1 gene are detected in both human and orang-utan. (
  • A piece of DNA on a chromosome is called a gene. (
  • Their races, like races in humans, are defined by a superficial characteristic - plumage color - rather than full gene-based ancestry. (
  • Human gene copy number spectra analysis in congenital heart malformations. (
  • Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. (
  • 11 SNPs exceeded genome-wide significance with the strongest association with rs12913832 SNP on chromosome 15, mapping to HERC2 gene (p=6.94x10-14). (
  • FANCB is the one exception to FA being autosomal recessive , as this gene is on the X chromosome. (
  • The first step in dna splicing is to locate a specific gene of interest on a chromosome. (
  • The structural chromosome alterations may arise at the chromosome level (e.g., translocations and gains or losses of large portions of chromosomes) or at the nucleotide level, which influence gene structure or expression such as mutations, insertions, deletions, gene amplifications, and gene silencing by epigenetic effects ( Jefford and Irminger-Finger, 2006 ). (
  • Chromosome and gene. (
  • In support of this idea are the linea that the colorectal tumor suppressor protein DCC has some structural homology to LAR438 and that the LAR gene maps to a linds on chromosome 1p32-33 that is thought e contain a breast cancer tumor sup- pressor gene. (
  • The disrupted in schizophrenia 1 (DISC1) gene locus was originally identified in a Scottish pedigree with a high incidence of psychiatric disorders that is associated with a balanced t(1;11)(q42.1;q14.3) chromosomal translocation. (
  • Seven polymorphic sites in the beta-globin gene cluster were analyzed on a sample of 96 chromosomes of Venezuelan sickle cell patients from the State of Aragua. (
  • Many FA patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay showing increased chromosomal breaks can make the diagnosis. (
  • The researchers applied a method called 'Hi-C' (High-throughput Chromosome Conformation Capture) to samples from patients with developmental disorders suspected to be caused by chromosomal rearrangements. (
  • The classical analysis of chromosomal defects is done by a karyogram, which is a microscopic view of stained chromosomes. (
  • As a major form of genomic instability, chromosomal instability comprises aberrant chromosome numbers (i.e., aneuploidy or polyploidy) and structural changes in chromosomes. (
  • Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (
  • In summary, genetics demonstrates these facts: The unborn child is genetically human and genetically unique, and left to a normal course will grow until birth, grow to walk, to talk and do all the things other humans can do. (
  • American journal of human genetics , 70 (1), 11-19. (
  • 2000. American Journal of Human Genetics 67:1174-1185. (
  • Despite of the extraordinary importance that all new knowledge on human genetics will have in dental clinics, little efforts have been made to prepare undergraduates in relation to this new information and technology. (
  • A team of researchers at the Max Planck Institute for Molecular Genetics and Charité - Universitätsmedizin Berlin led by human geneticists Malte Spielmann and Stefan Mundlos analyzed clinical samples from patients with genetic developmental disorders with the Hi-C method. (
  • As the team led by human geneticists Stefan Mundlos and Malte Spielmann describe in the current issue of The American Journal of Human Genetics , a method from basic research could improve clinical diagnostics considerably at some point in the future. (
  • Present address: Medical Research Council (MRC) Human Genetics Unit, Edinburgh EH4 2XU, UK. (
  • Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of complex rearrangements. (
  • [9] Deletion of part of the short arm of chromosome 5 results in Cri du chat syndrome. (
  • The precise regulation of microtubule length during mitosis is essential to assemble and position the mitotic spindle and segregate chromosomes. (
  • The purpose of this chapter is describing the basic methods of immunofluorescence analysis of mitotic cells and chromosomes. (
  • Mitotic cell division requires that kinetochores form microtubule attachments that can segregate chromosomes and control mitotic progression via the spindle assembly checkpoint. (
  • Rapid degradation of condensin I and condensin II - two essential regulators of mitotic chromosome structure - revealed that both complexes are individually required for cell division in precursor lymphocytes, but not in their differentiated peripheral lymphocyte derivatives. (
  • and of agreeableness to 3p25 (rs709160, LOD=3.67) and to two adjacent regions on chromosome 15, including 15q13 (rs970408, LOD=4.07) and 15q14 (rs1055356, LOD=3.52) in the individual scans. (
  • Patient 3 presented as an intrauterine death with trisomy for the majority of chromosome 11p as a result of 3:1 segregation of a maternal t(11;15)(p11.2;q11.2). (
  • Some human disorders are related to genomic imprinting, a phenomenon in mammals the place the father and mother contribute totally different epigenetic patterns for particular genomic loci in their germ cells. (
  • Automated identification of abnormal metaphase chromosome cells for the detection of chronic myeloid leukemia using microscopic images. (
  • ChIP assays were performed using human HeLa cells, the Diagenode antibody against H3K9me3 (cat. (
  • RAR regulates important pathways from the tumor-suppressive ramifications of retinoids in a variety of cells [11]. (
  • HG consists of 23 pairs of chromosomes existing in all diploid cells of human beings, where DNA is found and all genetic features of an individual is stored 6 . (
  • 5. In 2001, France and Germany requested the United Nations General Assembly to develop international conventions on human reproductive cloning, therapeutic cloning and research on stem cells. (
  • Organoids from human pluripotent cells can be used to model cerebral cortical development. (
  • As they're looking around, free radicals can damage human cells. (
  • These beautiful behaviors of chromosomes observed through the microscope have fascinated people since more than 100 years ago, and now we can sketch the dynamics of regulatory proteins and their posttranscriptional modifications through the fluorescent microscope. (
  • This strongly suggests functional reasons for the amino acid sequences of human and ape proteins, and shows their similarities can be explained as being due to functional requirements. (
  • Previous reports suggest that electrical forces on cell structure proteins interfered with the chromosome separation during mitosis and induced apoptosis. (
  • the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. (
  • IMSEAR at SEARO: Partial deletion of the long arm chromosome 11 in Jacobsen syndrome. (
  • Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. (
  • [1] Some chromosomes have fragile spots where breaks occur which result in the deletion of a part of chromosome. (
  • When a chromosome breaks, a part of it is deleted or lost, the missing piece of chromosome is referred to as deletion or a deficiency. (
  • For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop . (
  • Terminal deletion - a deletion that occurs towards the end of a chromosome. (
  • Intercalary/interstitial deletion - a deletion that occurs from the interior of a chromosome. (
  • (A) A tumour karyotype in a male with loss of the Y chromosome, (B) Prader-Willi Syndrome i.e. deletion in the 15q11-q12 region and (C) an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities. (
  • Deletion of a number of pairs that is not evenly divisible by three will lead to a frameshift mutation , causing all of the codons occurring after the deletion to be read incorrectly during translation , producing a severely altered and potentially nonfunctional protein . (
  • Here, we investigated whether members of this family carrying the t(1;11)(q42.1;q14.3) translocation have a common brain-related phenotype and whether this phenotype is similar to that observed in schizophrenia (SCZ), using multivariate pattern recognition techniques. (
  • Rapid prenatal diagnosis of trisomies 13, 18, 21 and sex chromosome anomalies by fluorescence in situ hybridization: a year's experience. (
  • Chromosomes stained with fluorescence dyes under the microscope. (
  • Some medium-sized deletions lead to recognizable human disorders, e.g. (
  • Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (
  • It shows 22 homologous autosomal chromosome pairs as well as both the female (XX) and male (XY) versions of the two sex chromosomes . (
  • Sister chromatid exchange and chromosome fragility in the nevoid basal cell carcinoma syndrome. (
  • Restriction mapping analysis has shown that the structure of this locus in several anthropoid primates is nearly identical to that of the human 11,12 . (
  • The Human Genome Project (HGP) started in the United States of America aiming at sequencing and mapping the human genetic code. (
  • Beckwith-Wiedemann syndrome is also related to genomic imprinting, usually brought on by abnormalities in maternal genomic imprinting of a region on chromosome 11. (
  • Hypoxia plays an important role in regulating the 11 cancer hallmarks, including metabolic reprogramming, genomic instability, alternative splicing, etc. (
  • The only locus significant after correcting for multiple testing is located on chromosome 11p13. (
  • AIMS: An intergenic locus on chromosome 1 (lead SNP rs10911021) was previously associated with coronary heart disease (CHD) in type 2 diabetes (T2D). (
  • 27. How many chromosomes are present in human diploid cell? (
  • A small duplication (only 17,000 base pairs out of more than 3 billion) was present in all males and no females. (
  • In females, it is perfect with two X-chromosomes. (
  • In human beings, the females have two X chromosomes and the males have one X and one Y chromosome. (
  • However, since the females have XX sex chromosomes, their gametes can only have X sex chromosome. (
  • Like all birds, males have two Z chromosomes and females one Z and one W , somewhat the opposite of humans, in whom females are the homogametic sex (XX). (
  • Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities. (
  • The International System for Human Cytogenomic Nomenclature (ISCN) is an international standard for human chromosome nomenclature , which includes band names, symbols and abbreviated terms used in the description of human chromosome and chromosome abnormalities. (
  • 11. Bacterial cell divides every one minute become double. (
  • To investigate whether sheep infected with scrapie prions could be another source of infection, we inoculated transgenic mice that overexpressed human prion protein with brain tissue from sheep with natural field cases of classical and atypical scrapie, sheep with experimental BSE, and cattle with BSE. (
  • Analysis of protein-coding genetic variation in 60,706 humans. (
  • expressed in middle/late meiosis,IV" YDR525W 1 5 7 YDR525W "Ydr525wp,IV" YDR526C 1 5 8 YDR526C "Ydr526cp,IV" YER187W 1 5 9 YER187W "similar to killer toxin,V" YER188W 1 5 10 YER188W "Yer188wp,V" YER190W 1 5 11 YER190W "Yrf1-2p,V" YFL002C 1 5 12 YFL002C "ATP-dependent RNA helicase,VI" YFL002W-B 1 5 13 YFL002W-B "TyA gag protein. (
  • The commercial introduction of recombinant human growth hormone (rhGH) in 1985 dramatically changed the field of therapy for growth hormone (GH). (
  • Together, our work defines the mechanistic basis for a cooperative Kif18b-MCAK-EB network at microtubule plus ends, that acts to efficiently shorten and regulate microtubules in mitosis, essential for correct chromosome segregation. (
  • In 2003, the sequencing of almost all human genome (HG) was announced. (
  • The study of microbial communities from environment- and human-derived samples through Next Generation Sequencing (NGS) methods has revealed a vast complexity in those ecological niches where hundreds or thousands of microbial species co-inhabit and functionally interact. (
  • A pair of stained chromosomes under the microscope. (
  • The number of chromosomes and the number of copies varies from one species to another. (
  • Humans have 23 pairs of chromosomes, the banana has 11 chromosomes, most often in 3 copies. (
  • While all DNA is stained blue, a specific sequence stained pink appears duplicated in one of the two copies of chromosome 17, but not the other. (
  • Although atypical scrapie has been discovered retrospectively in 2 UK sheep culled in 1987 and 1989 ( 14 , 15 ), the level and duration of human exposure to atypical scrapie prions are unknown, and this lack of knowledge confounds a cause-and-effect investigation of epidemiologic links between this animal disease and some form of CJD ( 11 ). (
  • This high-bone-mass trait (HBM) was originally localized by linkage analysis to chromosome 11q12-13. (
  • To determine the titer of the antibody, an ELISA was performed using a serial dilution of the antibody directed against human H3K9me3 (cat. (
  • The male gametes have 22 autosomes and either X or Y sex chromosome. (
  • Today we know the genome is splayed out over 39 pairs of autosomes. (
  • Based on these fundamental concepts, ethical human beings should oppose the intentional death of human beings who have done no wrong. (
  • We naturally hesitate to allow the execution of known guilty persons because they are human beings. (
  • Abortion kills this human being at an early stage of life and should be opposed by ethical human beings. (
  • Out of these, 22 pairs do not take part in sex-determination in human beings. (
  • The use of the technique of nuclear transfer for reproduction of human beings is surrounded by strong ethical concerns and controversies and is considered a threat to human dignity. (
  • 2. Over the years, the international community has tried without success to build a consensus on an international convention against the reproductive cloning of human beings. (
  • 3. Creating awareness among ministries of health in the African Region will provide them with critical and relevant information on the reproductive cloning of human beings and its implications to the health status of the general population. (
  • 7. The WHO Regional Committee for Africa is invited to review this document for information and guidance concerning reproductive cloning of human beings. (
  • 3. Media reports on nuclear transfer are usually about one form, reproductive nuclear transfer, also known as reproductive cloning of human beings . (
  • A woman is an adult female human. (
  • Achievement of final adult height consistent with a child's genetic potential remains the primary therapeutic endpoint for recombinanat human growth hormone (rhGH) therapy in the pediatric population. (
  • Maybe that's because the island's somewhat limited biodiversity offers no natural predators, just a human population that surges in the summer with many folk who aren't used to sharing space with large, wild birds. (
  • Moreover, when Buggs courteously but reasonably requested that Venema provide a scientific citation for his claim that humans evolved from an ancestral population of ~10,000 individuals rather than a short, sharp bottleneck of two parents (Adam and Eve), Venema was unable to provide such a citation, seriously undermining his arguments on this point. (
  • Considering the first growth curve of the Brazilian population with DS, however, the age used was limited to a range of 0-8 years old 11 . (
  • It has adapted rather well to the increasing human population, and is often found around well-wooded suburbs and even large city parks. (
  • Chromosomes, Human, Pair 4" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (
  • A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. (
  • For metabolized to reactive electro- icity in humans, but the classification bis(chloromethyl)ether (BCME), the philes. (
  • By clinical cytogenetic testing, we identified a family in which two brothers had ASD, mild intellectual disability and a chromosome 22 pericentric inversion, not detected in either parent, indicating de novo mutation with parental germinal mosaicism. (
  • However, at age of eleven , there was a slight inversion of the data because the average stature in girls was higher. (
  • boys are taller than girls, with a slight inversion at the age of eleven years old. (
  • The mole voles of eastern Europe and the spiny rats of Japan each boast some species in which the Y chromosome, and SRY, have completely disappeared. (
  • Although the set of species present in the human oral biofilm is almost fully depicted, new efforts have to be conducted to establish microbial agonistic or antagonistic associations, to distinguish actively-growing bacteria from inactive or transient species, as well as to outline the role of individual species during biofilm formation on tooth surfaces. (
  • The co-aggregation detected to occur between streptococci and Actinomyces species has been proposed to be a major promoter of human oral biofilm formation [ 8 ]. (
  • The oxygen free radicals ( reactive oxygen species ) are the most important in humans. (
  • Identification of t(15;17) and a segmental duplication of chromosome 11q23 in a patient with acute myeloblastic leukemia M2. (
  • The chromosome on the right acquired an additional piece by duplication of a section of DNA, which is apparent by the additional band (arrow). (
  • The discovery that copy number variants (CNVs) are widespread in the human genome has motivated development of numerous algorithms that attempt to detect CNVs from intensity data. (
  • There are 23 pairs of chromosomes in the cell of human body. (
  • The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. (
  • Each cell of an organism contains the same number of chromosomes. (
  • Each human has 46 chromosomes located in the nucleus of the cell. (
  • Cell cycle-dependent regulation of chromosome is a dynamic event. (
  • 1) the ovum contributes one chromosome of each pair to the fertilized cell (2) When a human sperm fertilizes a human ovum , a single cell is created with the potential to grow into a human person. (
  • Our strongest results are for chromosome 20, where we observe a weighted maximum LOD score (MLS) of 2.15 at map position 69.5 cM from pter and secondary weighted LOD-score peaks of 2.04 at 56.5 cM and 1.99 at 17.5 cM. (
  • Public and animal health controls to limit human exposure to animal prions are focused on bovine spongiform encephalopathy (BSE), but other prion strains in ruminants may also have zoonotic potential. (
  • We mapped the causative variant to a 37 kb segment on bovine chromosome 3. (
  • This suggests the mammal X and Y were an ordinary pair of chromosomes not that long ago. (
  • It also suggests problems in the newborn, since the pairing of the chromosomes are from the same genetic source. (
  • Two peer-reviewed papers and a book chapter have already been published in the ID-community related to modeling these questions, and early evidence suggests that an initial pair is capable of explaining human genetic diversity. (
  • To check this hypothesis, we evaluated the appearance of aswell as miR-146a-5p and miR-146b-5p in 48 PTC tumor/regular tissues pairs by Taqman assay to reveal which the appearance of was 3.28-fold reduced, and miR-146b-5p was 28.9-fold improved in PTC tumors. (
  • We hypothesised that the rearrangement was causative of their ASD and localised the chromosome 22 breakpoints. (
  • These data are consistent with the conclusion that prion disease is less likely to develop in humans after exposure to naturally occurring prions of sheep than after exposure to epizootic BSE prions of ruminants. (
  • The BSE prion is an epizootic agent and causes variant Creutzfeldt-Jakob disease (vCJD) in humans after dietary exposure ( 1 - 4 ). (
  • This increase has rekindled speculation that atypical scrapie in small ruminants might be a source of human prion disease ( 11 ). (
  • One approach involves the experimental transmission of disease by inoculating homogenized brain tissue from affected animals into transgenic mice that are overexpressing 1 of the 2 common polymorphic forms of the human PrP (either methionine or valine at residue 129) on a mouse PrP null background ( 16 ). (
  • Understanding Genetic and Environmental Causes of Human Disease A recent article in the Archives of General Psychiatry by Hallmayer et al. (
  • This part was duplicated and inserted in another part of the same chromosome, which leads to disease. (
  • median 34 months) showed 4 patients dead of disease (10.5, 12, 25 and 64 months after diagnosis), 1 patient alive with extensive metastases (43 months after diagnosis), 1 patient alive with persistent local disease (11 months after diagnosis), and 4 alive without disease (10, 47, 53 and 70 months after diagnosis). (
  • Patient 2 is a 4-year-old female with a derived chromosome 20, which arose from adjacent 1 malsegregation of a maternal t(11;20)(p15.3;q13.33). (
  • Left to a normal progression, it is a human child who is born. (
  • Progression tends to be slow, and wheelchair use begins 11-28 years after the onset of symptoms. (
  • After it was shown that TTFields improved the progression-free survival and the overall survival, TTFields were approved by the Food and Drug Administration (FDA) for treatment of diagnosed high grade glioma 10 , 11 . (
  • The gametes, as we know, receive half of the chromosomes. (
  • There are no individuals that produce intermediate forms of gametes who can be the basis of a third reproductive class of humans. (
  • Δ ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. (
  • In the human genome, FURIN and FES are located adjacent to one another on human chromosome 15q26. (