Chromosomes: 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)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome Banding: 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.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Sex Chromosomes: 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)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human: 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.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, 6-12 and X: 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.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Chromosomes, Artificial, Bacterial: DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosome Painting: 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.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Chromosomes, Artificial, Yeast: 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.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Chromosomes, Human, 21-22 and Y: 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.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Chromosome Inversion: 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.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.X Chromosome Inactivation: 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.Centromere: 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.Meiosis: 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.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Hybrid Cells: 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.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Aneuploidy: 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).Metaphase: 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.Mitosis: 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.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Microsatellite Repeats: 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).Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Crosses, Genetic: 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.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Nucleic Acid Hybridization: Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Nondisjunction, Genetic: 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.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Chromosomes, Artificial, Human: 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.Telomere: 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.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Chromosome Walking: 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.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Chromosomal Proteins, Non-Histone: 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.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Repetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Spindle Apparatus: 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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.DNA Probes: Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.DNA, Satellite: 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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Chromatids: 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)Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Genetic Variation: Genotypic differences observed among individuals in a population.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.DNA Replication: The process by which a DNA molecule is duplicated.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Abnormalities, MultipleDNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Species Specificity: 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.Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Prophase: 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.Interphase: 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).Cell Cycle Proteins: 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.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Karyotype: 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)Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Cytogenetic Analysis: 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.Chromatin: 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.Cytogenetics: 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.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Genome, Human: 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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Cell Line: Established cell cultures that have the potential to propagate indefinitely.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Chromosome Fragile Sites: 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.)Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Sequence Tagged Sites: 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.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Spermatocytes: 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.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Sex Chromosome Disorders: 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, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Cell Nucleus: 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, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Genes, Bacterial: The functional hereditary units of BACTERIA.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.DNA Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.Homozygote: An individual in which both alleles at a given locus are identical.Philadelphia Chromosome: 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).Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Ploidies: The degree of replication of the chromosome set in the karyotype.Genetic Loci: 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.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Drosophila: 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.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Base Pairing: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.Gene Amplification: 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.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Genomic Imprinting: 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)Sex Chromatin: 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, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.DNA, Neoplasm: DNA present in neoplastic tissue.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Histones: 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.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Microtubules: 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.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Syndrome: A characteristic symptom complex.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Sister Chromatid Exchange: 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.Bacterial Proteins: Proteins found in any species of bacterium.Chromosomes, Artificial: 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, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Gene Library: A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.Nucleic Acid Conformation: The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Triticum: 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, Y-Linked: Genes that are located on the Y CHROMOSOME.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.Genomic Library: 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).Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.

Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome. (1/1134)

An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear.  (+info)

Analysis of the CAVEOLIN-1 gene at human chromosome 7q31.1 in primary tumours and tumour-derived cell lines. (2/1134)

We identified CAVEOLIN-1 as a candidate for a tumour suppressor gene mapping to human chromosome 7q31.1. A number of studies suggest that caveolin could function as a tumour suppressor. Expression of caveolin, and in turn the number of caveolae within a cell, are inversely correlated with the transforming ability of numerous oncoproteins, including H-ras, v-abl, and bcr-abl, and caveolin is a major transformation-dependent substrate of v-src. Heterologous expression of caveolin has been shown to abrogate anchorage-independent growth and induce apoptosis in transformed fibroblasts and also to suppress anchorage-independent growth in human mammary carcinoma cells. We have analysed the status and expression of the human CAVEOLIN-1 gene in primary tumours and tumour-derived cell lines. We found no evidence for mutation of CAVEOLIN-1 in human cancers. Additionally, we found that while the first two exons of CAVEOLIN-1 are associated with a CpG island, this is not methylated in either primary tumours or in tumour-derived cell lines in which Caveolin-1 expression is low or undetectable. The level of expression of Caveolin-1 does not correlate with loss of heterozygosity at the CAVEOLIN-1 locus in these same cell lines. Contrary to other published studies, we have shown that CAVEOLIN-1 is not expressed in normal breast ductal epithelial cells in vivo. CAVEOLIN-1 is however highly expressed in breast myoepithelial cells and its expression is retained in tumours derived from breast myoepithelium. Together our data refute a role for CAVEOLIN-1 as a breast tumour suppressor gene in vivo.  (+info)

Human acyl-CoA:cholesterol acyltransferase-1 (ACAT-1) gene organization and evidence that the 4.3-kilobase ACAT-1 mRNA is produced from two different chromosomes. (3/1134)

Acyl-CoA:cholesterol acyltransferase (ACAT) plays important roles in cellular cholesterol homeostasis. Four human ACAT-1 mRNAs (7.0, 4.3, 3.6, and 2.8 kilobases (kb)) share the same short 5'-untranslated region (exon 1) and coding sequence (exons 2-15). The 4.3-kb mRNA contains an additional 5'-untranslated region (1289 nucleotides in length; exons Xa and Xb) immediately upstream from the exon 1 sequence. One ACAT-1 genomic DNA insert covers exons 1-16 and a promoter (the P1 promoter). A separate insert covers exon Xa (1277 base pairs) and a different promoter (the P7 promoter). Gene mapping shows that exons 1-16 and the P1 promoter sequences are located in chromosome 1, while exon Xa and the P7 promoter sequence are located in chromosome 7. RNase protection assays demonstrate three different protected fragments, corresponding to the 4.3-kb mRNA and the two other mRNAs transcribed from the two promoters. These results are consistent with the interpretation that the 4.3-kb mRNA is produced from two different chromosomes, by a novel RNA recombination mechanism involving trans-splicing of two discontinuous precursor RNAs.  (+info)

Association and linkage analysis of candidate chromosomal regions in multiple sclerosis: indication of disease genes in 12q23 and 7ptr-15. (4/1134)

Four recent genome-wide screen studies in multiple sclerosis (MS) identified a number of candidate regions for susceptibility genes in addition to the HLA complex in 6p21. However, none of these regions provided formally significant evidence for genome-wide linkage. We have investigated such regions in 46 Swedish multiplex MS families, 28 singleton families, 190 sporadic MS patients and 148 normal controls by parametric and nonparametric linkage and association analysis. One microsatellite marker, in 12q23, provided evidence for association in addition to suggestive transmission distortion and slightly positive linkage. In addition, a marker in 7ptr-15 showed a significant transmission distortion as well as a highly significant score in affected pedigree member analysis, but not quite significant deviations in association analysis. One of three markers in 5p, a region implicated in all four previous studies, showed a weakly positive lod score, but no other evidence of importance. Markers in 2p23, 5q11-13, 6q25, 7q21-22, 11q21-23, 13q33-34, 16p13.2, 18p11.32-23, Xp21.3 provided little or no evidence of importance for MS. In summary, these data support the importance of genome-wide screens in the identification of new candidate loci in polygenic disorders.  (+info)

Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridisation. (5/1134)

We have studied the meiotic segregation of a reciprocal translocation t(5;7)(q21;q32) in a male carrier, using the human sperm-hamster oocyte fusion technique and the whole chromosome painting. A total of 296 sperm complements were analysed by dual chromosome painting. The frequencies of alternate, adjacent-1, adjacent-2 and 3:1 segregation were 49.7%, 32.4%, 16.2% and 1.7% respectively. Aneuploidy frequencies for chromosomes not involved in the translocation were determined by FISH on decondensed sperm heads using probes from chromosomes X, Y, 6, 18 and 21. A total of 20,118 spermatozoa was analysed, 10,201 by two-colour FISH (probes for chromosomes 6 and 21) and 9917 by three-colour FISH (probes for chromosomes X, Y, and 18). There was no evidence of an interchromosomal effect, since disomy frequencies were within the range of normal controls.  (+info)

Refined mapping of the region of loss of heterozygosity on the long arm of chromosome 7 in human breast cancer defines the location of a second tumor suppressor gene at 7q22 in the region of the CUTL1 gene. (6/1134)

In breast cancer, loss of heterozygosity (LOH) has been described on the long arm of chromosome 7, at band q31, suggesting the presence of a tumor suppressor gene in this region. In this study, we have identified a second region of LOH on 7q, at band 7q22. Deletion of genetic material at 7q22 was found in all tumor types and grades and was associated with increased tumor size. The region of LOH at 7q22 in every case included one or more of three polymorphic markers that are located within the CUTL1 gene. LOH of 7q22 has also been documented in the case of human uterine leiomyomas (Zeng et al., 1997; Ishwad et al., 1997). Interestingly, in both leiomyomas and mammary tumors induced in transgenic mice expressing the Polyomavirus (PyV) large T (LT) antigen, immunocomplexes of CUTL1 and PyV LT antigen were detected (Webster et al., 1998). Altogether, genetic data in human breast cancer and biochemical analyses in breast tumors from transgenic mice suggest that CUTL1 is a candidate tumor suppressor gene.  (+info)

Sequence and detailed organization of the human caveolin-1 and -2 genes located near the D7S522 locus (7q31.1). Methylation of a CpG island in the 5' promoter region of the caveolin-1 gene in human breast cancer cell lines. (7/1134)

The CA microsatellite repeat marker, D7S522, is located at the center of a approximately 1000 kb smallest common deleted region that is lost in many forms of human cancer. It has been proposed that a putative tumor suppressor gene lies in close proximity to D7S522, within this smallest common deleted region. However, the genes located in proximity to D7S522 have remained elusive. Recently, we identified five independent BAC clones (approximately 100-200 kb) containing D7S522 and the human genes encoding caveolins 1 and 2. Here, we present the detailed organization of the caveolin locus and its relationship to D7S522, as deduced using a shot-gun sequencing approach. We derived two adjacent contigs for a total coverage of approximately 250 kb. Analysis of these contigs reveals that D7S522 is located approximately 67 kb upstream of the caveolin-2 gene and that the caveolin-2 gene is located approximately 19 kb upstream of the caveolin-1 gene, providing for the first time a detailed genetic map of this region. Further sequence analysis reveals many interesting features of the caveolin genes; these include the intron-exon boundaries and several previously unrecognized CA repeats that lie within or in close proximity to the caveolin genes. The first and second exons of both caveolin genes are embedded within CpG islands. These results suggest that regulation of caveolin gene expression may be controlled, in part, by methylation of these CpG regions. In support of this notion, we show here that the CGs in the 5' promoter region of the caveolin-1 gene are functionally methylated in two human breast cancer cell lines (MCF7 and T-47D) that fail to express the caveolin-1 protein. In contrast, the same CGs in cultured normal human mammary epithelial cells (NHMECs) are non-methylated and these cells express high levels of the caveolin-1 protein. Comparison of the human locus with the same locus in the pufferfish Fugu rubripes reveals that the overall organization of the caveolin-1/-2 locus is conserved from pufferfish to man. In conclusion, our current studies provide a systematic basis for diagnostically evaluating the potential deletion, mutation, or methylation of the caveolin genes in a variety of human tumors.  (+info)

47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region. (8/1134)

Maternal uniparental disomy for chromosome 7 (UPD7) may present with a characteristic phenotype reminiscent of Silver-Russell syndrome (SRS). Previous studies have suggested that approximately 10% of SRS patients have maternal UPD7. We describe a girl with a mos47,XX,+mar/46,XX karyotype associated with the features of SRS. Chromosome painting using a chromosome 7 specific probe pool showed that the small marker was a ring chromosome 7 (r(7)). PCR based microsatellite marker analysis of the patient detected only one maternal allele at each of 16 telomeric loci examined on chromosome 7, but showed both paternal and maternal alleles at four centromeric loci. Considering her mosaic karyotype composed ofdiploid cells and cells with partial trisomy for 7p13-q11, the allele types obtained at the telomeric loci may reflect the transmission of one maternal allele in duplicate, that is, maternal UPD7 (complete isodisomy or homodisomy 7), whereas those at the centromeric loci were consistent with biparental contribution to the trisomic region. It is most likely that the patient originated in a 46,XX,r(7) zygote, followed by duplication of the maternally derived whole chromosome 7 in an early mitosis, and subsequent loss of the paternally derived ring chromosome 7 in a subset of somatic cells. The cell with 46,XX,r(7) did not survive thereafter because of the monosomy for most of chromosome 7. If the putative SRS gene is imprinted, it can be ruled out from the 7p11-q11 region, because biparental alleles contribute to the region in our patient.  (+info)

*Protein pigeon homolog

The human PION gene is located on the long (q) arm of chromosome 7 at band 11.23, from base pair 76,778,007 to base pair ... The name of the human PION gene derives the corresponding Drosophila gene. The transcribed human pigeon homolog protein is 854 ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: pigeon homolog (Drosophila)". "Human chr7:76778007-76883653 ... December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings ...

*Human chorionic gonadotropin

... encoded by six highly homologous genes that are arranged in tandem and inverted pairs on chromosome 19q13.3 - CGB (1, 2, 3, 5, ... Talwar GP (1997). "Fertility regulating and immunotherapeutic vaccines reaching human trials stage" (PDF). Human Reproduction ... Human chorionic gonadotropin (hCG) is a hormone produced by the placenta after implantation. The presence of hCG is detected in ... Human chorionic gonadotropin interacts with the LHCG receptor of the ovary and promotes the maintenance of the corpus luteum ...

*Cystic fibrosis transmembrane conductance regulator

The gene that encodes the human CFTR protein is found on chromosome 7, on the long arm at position q31.2. from base pair ... 116,907,253 to base pair 117,095,955. CFTR orthologs occur in the jawed vertebrates. The CFTR gene has been used in animals as ... "Human PubMed Reference:". "Mouse PubMed Reference:". Gadsby DC, Vergani P, Csanády L (2006). "The ABC protein turned chloride ... salvage transporter human Na+-HCO3- cotransport isoform 3". J. Biol. Chem. 277 (52): 50503-9. doi:10.1074/jbc.M201862200. PMID ...

*LSMEM1

The human mRNA is 1686 base pairs long and the gene contains 5 exons. The human mRNA also has a 5' UTR and a 3' UTR. The 5' UTR ... Scherer, S. W. (10 April 2003). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767-772. doi:10.1126/ ... When the human protein encoded by LSMEM1 is compared to a known quickly evolving protein (fibrinopeptides) and a known slowly ... There are 3 main proteins thought to interact with the human protein encoded by the gene LSMEM1 that were determined via two- ...

*Populus trichocarpa

Size: 485 million base pairs. (Human genome: 3 billion base pairs) Proportion of heterochromatin to euchromatin: 3:7 Number of ... chromosomes: 19 Number of putative genes: 45,555, the largest number of genes ever recorded (estimate in September 2008) ... Mitochondrial genome: 803,000 base pairs, 52 genes Chloroplast genome: 157,000 base pairs, 101 genes The sequence of P. ... The depth of the sequencing was approximately 7.5 x (meaning that each base pair was sequenced on average 7.5 times). Genome ...

*PRP36

... both on human chromosome 19 and other chromosomes, tend to more frequently produce proteins that are involved in protein- ... The gene spans between base pair numbers 7868719 and 7874441 on chromosome 19 and is located between two other genes-LYPLA2P2, ... PRR36 is located on the short arm of human chromosome 19 at 19p13.2 (region 1, band 3, and sub-band 2). ... DUF4596 on human PRP36 is 47 amino acids long, has an isoelectric point of 3.77, and is almost completely conserved across ...

*Chromosome 7 (human)

A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 7 In the ... See also: Category:Genes on human chromosome 7. The following is a partial list of genes on human chromosome 7. For complete ... The following are some of the gene count estimates of human chromosome 7. Because researchers use different approaches to ... People normally have two copies of this chromosome. Chromosome 7 spans about 159 million base pairs (the building material of ...

*Chromosome 16 open reading frame 13

"Human PubMed Reference:". "Mouse PubMed Reference:". "C16orf13 - UPF0585 protein C16orf13 - human protein (Identifiers)". ... The primary transcript of this gene is 1,919 base pairs long. Using the Dotlet program, a dot plot was constructed comparing ... Chromosome 16 open reading frame 13, also called C16orf13, is a protein-coding gene of unknown function, also known as JFP2. ... The human expression profile from NCBI UniGene suggests that this gene has widespread expression in many different tissues in ...

*CCDC82

The CCDC82 gene is expressed in nearly all of human tissues at somewhat low rates. As of today, there are no patents involving ... The predicted promoter for CCDC82 is located on the minus strand and spans from base pairs 96,122,963 to 96,123,587. It is 625 ... "Homo sapiens chromosome 11, GRCh37.p10 Primary Assembly". NCBI. "Prediction of several variants of multiple genes". Softberry ... 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, ...

*TAS2R16

... from base pair 122,228,764 to base pair 122,229,639. Variants of this gene have been linked to an increased risk for alcohol ... "Human PubMed Reference:". "Mouse PubMed Reference:". Bufe B, Hofmann T, Krautwurst D, Raguse JD, Meyerhof W (2002). "The human ... The TAS2R16 gene is located on the long (q) arm of chromosome 7 at position 31.1 - 31.3, ... TAS2R16 (taste receptor, type 2, member 16) is a human gene that encodes for a receptor that may play a role in the perception ...

*C7orf43

In humans, C7orf43 is located in the long arm of human chromosome 7 (7q22.1), and is on the negative (antisense) strand. Genes ... This promoter is 657 base pairs long and is located at position 99756182 to 99756838 in the negative strand of chromosome 7. ... 2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767-72. doi:10.1126/science.1083423. PMC 2882961 . ... "Q8WVR3 -CG043_HUMAN". UniProt. Retrieved 8 May 2015. "C7orf43-Large-scale analysis of the human transcriptome (HG-U133A)". NCBI ...

*KIAA0895

... is a human gene that encodes a protein known as KIAA0895 protein or hypothetical protein LOC23366. Other known aliases ... The genomic DNA is 65,976 [base pair]s long, while the longest mRNA that it produces is 4463 bases long. KIAA0895 is surrounded ... The KIAA0895 gene is located at p14.2 on chromosome 7. It can be transcribed into 15 transcript variants, which in turn can ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: KIAA0895". Retrieved 2011-04-24. Nagase T, Ishikawa K, ...

*TMEM229B

Covering a total of 45,038 base pairs (bp) along the chromosome, the TMEM229B gene has a total of 3 exons in its primary ... "Human Gene TMEM229B (uc001xjk.2) Description and Page Index". UCSC Genome Browser. Retrieved 2011-04-19. "Gene: TMEM229B ( ... "Genecards". The Human Gene Compendium. Weizmann Institute of Science with Xennex Inc. Retrieved 24 April 2011. "Chromosomal ... "Q8NBD8 (T229B_HUMAN)". UniProtKB. EMBL-EBI. Retrieved 2011-04-21. "transmembrane protein 229B [Homo sapiens]". National Center ...

*POLD1

... is from base pair 50,384,290 to base pair 50,418,018 on chromosome 19. The mouse orthologue maps to mouse chromosome 7. In ... Fan X, Zhang Q, You C, Qian Y, Gao J, Liu P, Chen H, Song H, Chen Y, Chen K, Zhou Y (2014-01-01). "Proteolysis of the human DNA ... The human DNA Polδ is a heterotetramer. The four subunits are: (POLD1/ p125), (POLD3/ p66), (POLD2/ p50) and (POLD4/ p12), with ... Depletion of POLD1 can halt cell cycle at G1 and G2/M phases in human cells. Cell cycle block in these phases typically ...

*PILRA

These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: Paired immunoglobin like type 2 receptor alpha". Retrieved ... particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative ... crystallization and preliminary X-ray diffraction analysis of human paired Ig-like type 2 receptor alpha (PILRalpha)". Acta ...

*LRRN3

The LRRN3 is located on human chromosome 7, at 7q31.1. It contains 6 distinct gt-ag introns, and transcription produces five ... with the longest transcript variant being 3744 base pairs in length. All three of these transcript variants have differing ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: leucine rich repeat neuronal 3". Fukamachi K, Matsuoka Y, ... 16 (7-8): 247-53. doi:10.2119/molmed.2009.00159. PMC 2896464 . PMID 20379614. Sousa I, Clark TG, Holt R, et al. (2010). " ...

*Eukaryotic chromosome fine structure

The repeats are normally a few hundred base pairs in length. These sequences constitute about 13% of the human genome with the ... The repeats are normally several thousand base pairs in length. These sequences constitute about 21% of the human genome. Both ... Eukaryotic chromosome fine structure refers to the structure of sequences for eukaryotic chromosomes. Some fine sequences are ... They may also be involved in fillers for increasing chromosome size to some minimum threshold level necessary for chromosome ...

*P1-derived artificial chromosome

Bacterial artificial chromosome Human artificial chromosome Yeast artificial chromosome Michael Yarmolinsky, Ronald Hoess (2015 ... and Recovery of DNA Fragments as Large as 100 Kilobase Pairs", Proceedings of the National Academy of Sciences of the United ... Online Medical Dictionary P1-derived artificial chromosome P1-derived artificial chromosome (PAC) definition. ... The P1-derived artificial chromosome are DNA constructs that are derived from the DNA of P1 bacteriophage. They can carry large ...

*Chorionic gonadotropin beta

The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and ... Policastro P, Ovitt CE, Hoshina M, Fukuoka H, Boothby MR, Boime I (October 1983). "The beta subunit of human chorionic ... GRCh38: Ensembl release 89: ENSG00000104827 - Ensembl, May 2017 "Human PubMed Reference:". "Entrez Gene: chorionic gonadotropin ... ". Fiddes JC, Goodman HM (August 1980). "The cDNA for the beta-subunit of human chorionic gonadotropin suggests evolution of a ...

*PILRB

2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This ... particular gene encodes the non-ITIM-bearing member of the receptor pair, which has a truncated cytoplasmic tail relative to ... 2000). "FDF03, a novel inhibitory receptor of the immunoglobulin superfamily, is expressed by human dendritic and myeloid cells ...

*Keratin 18

Waseem A, Gough AC, Spurr NK, Lane EB (1990). "Localization of the gene for human simple epithelial keratin 18 to chromosome 12 ... chromosomal location emphasizes difference from other keratin pairs". New Biol. 2 (5): 464-78. PMID 1705144. Romano V, Hatzfeld ... 1990). "Localisation of a cDNA clone for human cytokeratin 18 to chromosome 17p11-p12 by in situ hybridisation". Hum. Genet. 85 ... 1997). "Mutation of human keratin 18 in association with cryptogenic cirrhosis". J. Clin. Invest. 99 (1): 19-23. doi:10.1172/ ...

*Y chromosome

The DNA in the human Y chromosome is composed of about 59 million base pairs. The Y chromosome is passed only from father to ... Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered ... The chromosome with this allele became the Y chromosome, while the other member of the pair became the X chromosome. Over time ... For details, see human Y-chromosome DNA haplogroup. The following are some of the gene count estimates of human Y chromosome. ...

*Genetic variation

W. H. Freeman, San Francisco, ISBN 0-7167-3520-2. Cavalli-Sforza L. L., Bodmer W. F. (1999): The genetics of human populations ... Numerical variation in whole chromosomes or genomes can be either polyploidy or aneuploidy. A variety of factors maintain ... Small-scale sequence variation (< 1Kbp) includes base-pair substitution and indels. Large-scale Structural variation (>1Kbp) ... Genetic diversity Genetic variability Human genetic variation Darwin, 1845. Journal of researches into the natural history and ...

*Aromatic L-amino acid decarboxylase

... localization to human chromosome 7p11 and characterization of hepatic cDNAs". Genomics. 13 (2): 469-71. doi:10.1016/0888-7543( ... a one-base pair deletion at -601 and a four-base pair deletion at 722-725 in exon 1 in relation to bipolar disorder and autism ... "AADC". Human Metabolome database. Retrieved 17 February 2015. Broadley KJ (March 2010). "The vascular effects of trace amines ... "Patient registry". Scherer LJ, McPherson JD, Wasmuth JJ, Marsh JL (Jun 1992). "Human dopa decarboxylase: ...

*TMEM33

This 1069 base pair promoter sequence spans 41936535-41937603 on human chromosome 4. The promoter sequence overlaps with the 5 ... 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 human protein has a predicted molecular weight of 28 kDa and an isoelectric point of 9.88. TMEM33 has a significantly high ... Using human proteins, an affinity chromatography ran on TMEM33 showed that the protein bound to reticulon 4C, 1A, 2B, 3C, and ...

*TENM3

Odz1 to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-3. doi:10.1006/geno.1999.5798. PMID ... Levine A, Bashan-Ahrend A, Budai-Hadrian O, Gartenberg D, Menasherow S, Wides R (May 1994). "odd Oz: A novel Drosophila pair ... Odz1to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-103. doi:10.1006/geno.1999.5798. PMID ... Ben-Zur, T.; Feige, E.; Motro, B.; Wides, R. (2000). "The Mammalian Odz Gene Family: Homologs of a Drosophila Pair-Rule Gene ...
Author Summary A fundamental question in current biomedical research is to establish a link between genomic variation and phenotypic differences, which encompasses both the seemingly neutral diversity, as well as the pathological variation that causes or predisposes to disease. Once the primary genetic cause(s) of a disease or phenotype has been identified, we need to understand the biochemical consequences of such variants that eventually lead to increased disease risk. Such phenotypic effects of genetic differences are supposedly brought about by changes in expression levels, either of the genes affected by the genetic change or indirectly through position effects. Thus, transcriptome analyses seem appropriate proxies to study the consequences of structural variation, such as the 7q11.23 deletion present in individuals with Williams-Beuren syndrome (WBS). Here, we present an approach that takes experimental data into account instead of relying solely on functional annotation, following the rationale
La síndrome de Williams-Beuren és una malaltia del neurodesenvolupament causada per una deleció comú dentre 26 i 28 gens contigus a la regió 7q11.23, dificultant lestabliment de relacions genotip-fenotip. Lús de models de ratolí pot augmentar el coneixement sobre la malaltia, el paper dels gens delecionats, les vies moleculars afectades i els futurs tractaments. En aquesta tesi shan usat diversos models de ratolí, les seves cèl·lules i teixits per tal de descriure i definir fenotips, gens i vies moleculars desregulades i per descobrir elements modificadors i nous tractaments. Per últim, sha definit un nou motiu dunió per Gtf2i, uns dels gens delecionats que codifica per un factor de transcripció amb un rol central en la síndrome, proporcionats possible nous gens diana de vies moleculars desregulades. Els resultats obtinguts revelen el paper essencial dels models de ratolí per a lestudi de la síndrome de Williams-Beuren, proporcionen noves opcions terapèutiques i ...
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Microduplication of the region 7q11.23 critical for Williams-Beuren syndrome - diagnostic problems presented on the base of the case of an eleven-month-old girl ...
Signs of Monosomy 8q12 21 including medical signs and symptoms of Monosomy 8q12 21, symptoms, misdiagnosis, tests, common medical issues, duration, and the correct diagnosis for Monosomy 8q12 21 signs or Monosomy 8q12 21 symptoms.
A hallmark feature of Williams-Beuren Syndrome (WBS) is a generalized arteriopathy due to elastin deficiency, presenting as stenoses of medium and large arteries and leading to hypertension and other cardiovascular complications. Deletion of a functi
نشانگان ویلیامز یا سندروم ویلیامز-بویرن (انگلیسی: Williams syndrome) (اختصاری WBS) یک نارسایی رشد عصبی نادر است که در آن چهره به سبب افتادگی پل دماغی به شکل پری‌وار درمی‌آید.[۱] مبتلایان به این نشانگان، به شکل نامعمولی خوشرو و شاد و با ناآشنایان صمیمی هستند. اختلال‌های تحولی، لکنت زبان، نارسایی دیدی-فضایی، مشکلات قلبی مانند تنگی دریچه آئورت و هایپرکلسمی ناپایدار از دیگر نشانه‌های این نشانگان هستند. نشانگان ویلیامز یک نشانگان ریزحذفی است که به دلیل حذف خودبخودی مادهٔ ژنتیکی از منطقهٔ q11.23 در کروموزوم ۷ بروز می‌کند.[۲] تاکنون برای نشانگان ویلیامز درمانی یافت ...
Monosomy 8q12 21 information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Silver-Russell syndrome (SRS) originally was described by Silver and colleagues in 1953 and, soon afterwards, by Russell in 1954. The first reports were in children with characteristic facies, low birthweight, asymmetry, and growth retardation.
Split hand/split foot malformation (SHFM) is a genetic disorder characterized by the complete or partial absence of some fingers or toes, often combined with clefts in the hands or feet. There may also be the appearance of webbing between fingers or toes (syndactyly). This may give the hands and/or feet a claw-like appearance. It is also known as Lobster Claw Syndrome.
To the Editor: Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder caused by deletion of chromosome 7 at q11.23. It is characterized by distinctive facies, congenital cardiovascular malformations, intellectual ...
To the Editor: Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder caused by deletion of chromosome 7 at q11.23. It is characterized by distinctive facies, congenital cardiovascular malformations, intellectual ...
In 1959, Professor Lejeune, doctor and researcher, discovered the cause of Down syndrome (trisomy 21). Subsequently, the Jérôme Lejeune Foundation, which was given public interest status in 1996, has been working for individuals affected by genetic intelligence disorders (Down syndrome, Williams-Beuren syndrome, Fragile X syndrome,
This gene encodes an integral membrane protein, which belongs to the claudin family. The protein is a component of tight junction strands and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems ...
Membership in the WSA provides many benefits. Members include individuals with Williams syndrome, their families and friends and medical and educational professionals. Anyone interested in learning more about Williams syndrome can benefit from membership in the WSA.
Do You Have Chromosome 1, Monosomy 1p22 P13? Join friendly people sharing true stories in the I Have Chromosome 1, Monosomy 1p22 P13 group. Find support forums, advice and chat with groups who share this life experience. A Chromosome 1, Monosomy 1p22...
This category is for all associations or organizations that promote education, research, and advocacy for patients with Williams Syndrome, their families and caregivers.
Each year more than 200 youth and young adults with Williams syndrome enjoy one or more camp weeks designed especially for them, at WSA sponsored camps. The camps keep them busy and happy with many different activities and specialized programming.
STEAMBOAT SPRINGS After nearly 50 years of living in the Rocky Mountains, I thought I knew how to enjoy the winter. I ve gone skiing, skating,...
The Williams-Beuren syndrome (WBS) is a sporadic congenital disorder characterized by a multisystem developmental impairment. This syndrome is caused by a microdeletion in chromosome 7q11.23 that encompasses loss of the elastin locus.. Elastin, which is part of the extracellular matrix, controls proliferation of vascular smooth muscle cells (VSMCs) and stabilizes arterial structure. Loss of elastin gene in WBS patients has been claimed to provide a biological basis for the abnormal elastic fibre properties leading to cardiovascular abnormalities like supravalvular aortic stenosis (SVAS), hypertension, arteriosclerosis and stenosis in more than 50% of WBS children.. These cardiovascular pathologies result in important consequences and neither curative nor preventive medicinal treatments exist at this time. Surgery is needed in more than half cases, while it is often leading to complications.. Minoxidil is a well-known antihypertensive drug used in adults and children. Furthermore, according to ...
Silver-Russell syndrome (SRS) originally was described by Silver and colleagues in 1953 and, soon afterwards, by Russell in 1954. The first reports were in children with characteristic facies, low birthweight, asymmetry, and growth retardation.
Parry M, Rose-Zerilli MJ, Ljungström V, Gibson J, Wang J, Walewska R, Parker H, Parker A, Davis Z, Gardiner A, McIver-Brown N, Kalpadakis C, Xochelli A, Anagnostopoulos A, Fazi C, Gonzalez de Castro D, Dearden C, Pratt G, Rosenquist R, Ashton-Key M, Forconi F, Collins A, Ghia P, Matutes E, Pangalis G, Stamatopoulos K, Oscier D, Strefford JC Clin. Cancer Res. 21 (18) 4174-4183 [2015-09-15; online 2015-03-18] Mounting evidence supports the clinical significance of gene mutations and immunogenetic features in common mature B-cell malignancies. We undertook a detailed characterization of the genetic background of splenic marginal zone lymphoma (SMZL), using targeted resequencing and explored potential clinical implications in a multinational cohort of 175 patients with SMZL. We identified recurrent mutations in TP53 (16%), KLF2 (12%), NOTCH2 (10%), TNFAIP3 (7%), MLL2 (11%), MYD88 (7%), and ARID1A (6%), all genes known to be targeted by somatic mutation in SMZL. KLF2 mutations were early, clonal ...
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 ({608049}), which maps to chromosome 13q14; AUTS4 ({608636}), which maps to chromosome 15q11; AUTS5 ({606053}), which maps to chromosome 2q; AUTS6 ({609378}), which maps to chromosome 17q11; AUTS7 ({610676}), which maps to chromosome 17q21; AUTS8 ({607373}), which maps to chromosome 3q25-q27; AUTS9 ({611015}), which maps to chromosome 7q31; AUTS10 ({611016}), which maps to chromosome 7q36; AUTS11 ({610836}), which maps to chromosome 1q41; AUTS12 ({610838}), which maps to chromosome 21p13-q11; AUTS13 ({610908}), which maps to chromosome 12q14; AUTS14A ({611913}), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B ({614671}), which has been ...
TY - JOUR. T1 - Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. AU - Botta, A.. AU - Novelli, G.. AU - Mari, A.. AU - Novelli, A.. AU - Sabani, M.. AU - Korenberg, J.. AU - Osborne, L. R.. AU - Digilio, M. C.. AU - Giannotti, A.. AU - Dallapiccola, B.. PY - 1999. Y1 - 1999. N2 - We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker D7S1870. This observation narrows the minimal region of deletion in WS and suggests that the syntaxin 1A and frizzled genes are not responsible for the major features of this developmental disorder and provides important insight into understanding the genotype-phenotype correlation in WS.. AB - We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker ...
About a year ago, if you remember, Self, we were just coming out of kidney failure. Williams was pretty new to us. I was overwhelmed all of the time. I turned to that woman, and I just told her what she had wanted to know. I told her about having a new baby, who was born sick, and how long it was before I could hold him. We were living away from our family, and then we took our four month old and moved to Finland for a semester abroad. I told her how my husband spent all day in school and how I was in a concrete, unfurnished apartment sitting on a sleeping bag with a baby who screamed all day and all night, and clawed at his face until he bled because something was wrong and we didnt know what. I told her that as soon as we hit America we took him to a doctor where they did test after test after test, and finally it was determined that his severe heart problems, among other things, pointed toward a strange thing called WILLIAMS SYNDROME. And how after even more testing, it was determined that ...
About a year ago, if you remember, Self, we were just coming out of kidney failure. Williams was pretty new to us. I was overwhelmed all of the time. I turned to that woman, and I just told her what she had wanted to know. I told her about having a new baby, who was born sick, and how long it was before I could hold him. We were living away from our family, and then we took our four month old and moved to Finland for a semester abroad. I told her how my husband spent all day in school and how I was in a concrete, unfurnished apartment sitting on a sleeping bag with a baby who screamed all day and all night, and clawed at his face until he bled because something was wrong and we didnt know what. I told her that as soon as we hit America we took him to a doctor where they did test after test after test, and finally it was determined that his severe heart problems, among other things, pointed toward a strange thing called WILLIAMS SYNDROME. And how after even more testing, it was determined that ...
Does any one know the icd-9-cm code for Williams Syndrome? I have looked through the book and cannot find this syndrome under anything.
Relief is when you and the right researcher find each other Finding the right clinical trial for Chromosome 2, Monosomy 2q can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity. ...
A rare form of childhood myelodysplasia has been linked to genes responsible for a range of developmental disorders. The discovery may help improve screening and treatment decisions about familial monosomy 7 syndrome, also known as myelodysplasia and leukaemia syndrome with monosomy 7.
ウサギ・ポリクローナル抗体 ab55975 交差種: Hu 適用: WB,ELISA,IHC-P…GTF2IRD1抗体一覧…画像、プロトコール、文献などWeb上の情報が満載のアブカムの Antibody 製品。国内在庫と品質保証制度も充実。
Antigen stimulation may be important for splenic marginal zone lymphoma (SMZL) pathogenesis. To address this hypothesis, the occurrence of stereotyped B-cell receptors (BCR) was investigated in 133 SMZL (26 HCV+) compared with 4,414 HCDR3 sequences from public databases (PDB). Sixteen SMZL (12%) showed stereotyped BCR; 7/86 (8%) SMZL sequences retrieved from PDB also belonged to stereotyped HCDR3 subsets. Three categories of subsets were identified : 1) SMZL-specific subsets (n=5), composed only of 12 SMZL (9 HCV- from our series); 2) Non-Hodgkin lymphoma-like subsets (n=5), comprising 5 SMZL (4 from our series) clustering with other indolent lymphomas; 3) CLL-like subsets (n=6), comprising 6 SMZL (3 from our series) that belonged to known CLL subsets (n=4) or clustered with public CLL sequences. Immunoglobulin 3D modeling of 3 subsets revealed similarities in antigen binding regions not limited to HCDR3. Overall, data suggest that the pathogenesis of SMZL may involve also HCV-unrelated ...
Q: Is there really a condition that makes kids be born looking like elves?A: There is a congenital syndrome called Williams-Beuren Syndrome (WBS, sometimes just called Williams syndrome) that manifests with facial features of a broad forehead, a small upturned nose, full lips with a long upper lip, a small chin, a starburst pattern in the colored parts of their eyes (more pronounced in blue or green-eyed patients) and full cheeks, as well as an outgoing, sociable personality.
GTF2IRD1 is one of the genes implicated in Williams-Beuren syndrome, a disease caused by haploinsufficiency of certain dosage-sensitive genes within a hemizygous microdeletion of chromosome 7. GTF2IRD1 is a prime candidate for some of the major features of the disease, presumably caused by abnormally reduced abundance of this putative transcriptional repressor protein. GTF2IRD1 has been shown to interact with the E3 SUMO ligase PIASxβ, but the significance of this relationship is largely unexplored. Here, we demonstrate that GTF2IRD1 can be SUMOylated by the SUMO E2 ligase UBC9 and the level of SUMOylation is enhanced by PIASxβ. A major SUMOylation site was mapped to lysine 495 within a conserved SUMO consensus motif. SUMOylation of GTF2IRD1 alters the affinity of the protein for binding partners that contain SUMO-interacting motifs, including a novel family member of the HDAC repressor complex, ZMYM5, and PIASxβ itself. In addition, we show that GTF2IRD1 is targeted for ubiquitination and ...
VonHoldt had identified the canine analog of the WBSCR in her publication in Nature in 2010. But it was Emily Shuldiner, a 2016 Princeton alumna and the studys other lead co-author, who, as part of her senior thesis, pinpointed the commonalities in the genetic architecture of Williams-Beuren syndrome and canine tameness.. By analyzing behavioral and genetic data from dogs and gray wolves, vonHoldt, Shuldiner and their colleagues reported a strong genetic aspect to human-directed social behavior by dogs. Monique Udell, an assistant professor of animal and rangeland sciences at Oregon State University and the papers senior author, collected and analyzed the behavioral data for 18 domesticated dogs and 10 captive human-socialized wolves, as well as the biological samples used to sequence their genomes.. First, Udell quantified human-directed sociability traits in canines, such as to what extent they turned to a human in the room to seek assistance in trying to lift a puzzle box lid in order to ...
VonHoldt had identified the canine analog of the WBSCR in her publication in Nature in 2010. But it was Emily Shuldiner, a 2016 Princeton alumna and the studys other lead co-author, who, as part of her senior thesis, pinpointed the commonalities in the genetic architecture of Williams-Beuren syndrome and canine tameness.. By analyzing behavioral and genetic data from dogs and gray wolves, vonHoldt, Shuldiner and their colleagues reported a strong genetic aspect to human-directed social behavior by dogs. Monique Udell, an assistant professor of animal and rangeland sciences at Oregon State University and the papers senior author, collected and analyzed the behavioral data for 18 domesticated dogs and 10 captive human-socialized wolves, as well as the biological samples used to sequence their genomes.. First, Udell quantified human-directed sociability traits in canines, such as to what extent they turned to a human in the room to seek assistance in trying to lift a puzzle box lid in order to ...
Reagents, Tools and Custom Services for molecular biology, specializing in the fields of Nano-Antibody development (nAb), Cellular Reprogramming (iPSC), Genome Editing, Fluorescent Proteins, RNAi, Viral Packaging and Protein expression.
Sakurai, T., Dorr, N. P., Takahashi, N., McInnes, L. A., Elder, G. A. and Buxbaum, J. D. (2011), Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. Autism Res, 4: 28-39. doi: 10.1002/aur.169 ...
There is no known cure for Williams syndrome as of 2015, but social training, physical therapy, speech therapy, monitoring of blood and heart vessel defects and occupational therapy are some of the...
David Dobbs has an interesting article in The New York Times Magazine about Williams syndrome; a disorder characterized by verbosity and hypersociality in concert with abstraction capacities so attenuated that most suffers are mentally retarded. The piece juggles many phenomena, from general to domain specific intelligences and the interaction between environment and genetic biases which shape the minds developmental arc ...
Food and Drink Federation (FDF) represents the interests of the UK food and drink manufacturing industry. FDF addresses issues from sourcing to processing, packaging, labelling and distribution.
Food and Drink Federation (FDF) represents the interests of the UK food and drink manufacturing industry. FDF addresses issues from sourcing to processing, packaging, labelling and distribution.
If the #RareDiseaseCommunity unites and helps each other raise awareness for their condition we will ALL make our voices more effectively heard!!! #WilliamsSyndrome #CDG ...
Route: take bike route 7 north out of Pitlochry. At Killiecrankie cross the river on the bridge and turn right. This back road is more pleasant than the B road. It eventually passes under the A9 and becomes a riverside track into Blair Atholl. Turn right on the main road into Blair Atholl then left immediately after the bridge over the Tilt. This road soon swings left under a stone arch footbridge. The entrance to Glen Tilt is just after on the right. Cycle the full length of Glen Tilt. Where it narrows and the main track turns uphill to the left away from the river, the right hand split to stay alongside the river. Cross the bridge over the Tarff and follow the footpath beyond here. About 400m later a path leaves to the right to cross the river. Take that path and follow it steeply up the other side. Ive passed here a couple of times and not had any difficulty crossing the river but it could be tricky in a spate. Follow the path to Fealar Lodge and then the main track that heads south all the ...
Systematic experimental investigations of the developmental consequences of autosomal monosomy and of trisomy seem to be an interesting task in view of the great clinical importance of chromosomal...
Expression of GTF2IRD1 (BEN, Cream1, GTF3, MusTRD1, RBAP2, WBSCR11, WBSCR12) in ovary tissue. Antibody staining with HPA044254 in immunohistochemistry.
MD is very proud to announce the Q and A section with William Llewellyn. About William Llewellyn http://www.mesomorphosis.com/images/william-llewellyn/william-llewellyn.jpgWilliam Llewellyn is a world-renowned foremost authority
Lippincott Williams & Wilkins Clinical Medical Assisting : Lippincott Williams & Wilkins Clinical Medical Assisting Pub Date: June 2008
Silver-Russell syndrome (SRS) is a clinical and genetic heterogeneous malformation syndrome. Patients show intrauterine and postnatal growth retardation (,3rd centile), and numerous additional dysmorphisms such as a relative macrocephaly, a small triangular face, a prominent forehead, clinodactyly V and asymmetry of head, limbs and trunk (for a review, see Hitchins et al1). Several genetic disturbances have meanwhile been described, among them cytogenetic aberrations affecting different chromosomes and maternal uniparental disomy of chromosome 7 in 7-10% of cases. Epimutations of the telomeric imprinting centre region 1 (ICR1) in 11p15 can be detected in at least 30% of cases (for a review, see Eggermann … ...
BACKGROUND: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous condition characterized by severe intrauterine and postnatal growth retardation. Loss of DNA methylation at the telomeric imprinting control region 1 (ICR1) on 11p15 is an important cause of SRS. METHODS: We studied the methylation pattern at the H19-IGF2 locus in 201 patients with suspected SRS. In an attempt to categorize the patients into different subgroups, we developed a simple clinical scoring system with respect to readily and unambiguously assessable clinical features. In a second step, the relationship between clinical score and epigenetic status was analyzed. Results and CONCLUSIONS: The scoring system emerged as a powerful tool for identifying those patients with both a definite SRS phenotype and carrying an epimutation at 11p15. 53% of the 201 patients initially enrolled fulfilled the criteria for SRS and about 40% of them exhibited an epimutation at the H19-IGF2 locus. Methylation defects were ...
Williams syndrome is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity, even among affected family members. Individuals with Williams syndrome will not have all the symptoms listed below. Some affected individuals do not have heart (cardiac) abnormalities; others may not have elevated levels of calcium in the body (hypercalcemia). In addition, the severity of these symptoms often varies greatly from case to case.. Some children with Williams syndrome may have a low birth weight, feed poorly, and fail to gain weight and grow at the expected rate (failure to thrive). Symptoms such as vomiting, gagging, diarrhea, and constipation are common during infancy. Some affected infants may have elevated levels of calcium in their blood (hypercalcemia), leading to loss of appetite, irritability, confusion, weakness, easy fatigability, and/or abdominal and muscle pain. Calcium levels usually return to normal around the age of 12 months. However, in ...
It has emerged that of the 38,000 Americans diagnosed with renal cell carcinoma (RCC) each year, approximately 20 percent have non-clear cell forms of the disease.
Brian I. Rini, MD, presents a case study focused on the treatment of a 64 year-old male who presented with recurrent lung nodules 9 years after a left radical nephrectomy for a clear-cell renal ...
Meet Chloe, the 11-year-old whose powerful smile is bringing together supporters and scientists to advance research on Williams syndrome.
View Notes - Notes Day 2 from PSYCH 100 at UMass (Amherst). Genes and Personality: Williams Syndrome (Video) 1 in 25,000 children are born with it. They are characteristically affectionate and
Expression of GTF2IRD1 (BEN, Cream1, GTF3, MusTRD1, RBAP2, WBSCR11, WBSCR12) in tonsil tissue. Antibody staining with HPA044254 in immunohistochemistry.
A genetic abnormality in which a diploid organism is missing one copy of one of its chromosomes. Normally, diploid organisms have two copies of each chr...
Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete. We show that GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development, and we implicate another member of the TFII-I transcription factor family, GTF2I, in both aspects. Gtf2ird1-null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); craniofacial imaging reveals abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of Gtf2ird1. In humans, a rare WBS individual with an atypical deletion, including GTF2IRD1, shows facial dysmorphism and cognitive deficits that differ from those of classic WBS cases. We propose a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders.
Forms of leukemia can be found on six different chromosomes. Acute leukemias can be found on chromosomes 1, 2, and 13, T-Cell developmental leukemia is found on chromosomes 3 and X, and the cause of myelogenous leukemia is in a protein coded for in chromosome 11 at 11p11.9. Chromosome 11 contains 134 million bases. Chromosome 11 has been identified with 151 diseases. Only chromosomes 1, 2, and X contain more currently identified diseases. Chromosome 11 has the most cancerous conditions of all of the chromosomes associated with it ...
ndividuals with Williams syndrome typically show relatively poor visuospatial abilities in comparison to stronger verbal skills. However, individuals level of performance is not consistent across all visuospatial tasks. The studies assessing visuospatial functioning in Williams syndrome are critically reviewed, to provide a clear pattern of the relative difficulty of these tasks. This prompts a possible explanation of the variability in performance seen, which focuses on the processing demands of some of these tasks. Individuals with Williams syndrome show an atypical processing style on tests of construction, which does not affect tests of perception.. ...
Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate mental retardation or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with
Fairy tales tell of wee folk who spend their lives singing and dancing. A rare genetic disorder called Williams Syndrome lends scientific support to the legends. Drummer Jeremy Vest is among those who are diagnosed with Williams Syndrome.
OBJECTIVE To evaluate trends in urine aquaporin-1 (AQP1) and perilipin 2 (PLIN2) concentrations in sufferers with very clear cell and papillary renal cell carcinoma (RCC) this analysis determined the partnership between your urine concentration of the biomarkers and tumor size, stage and grade. mainly on tumor size (levels T1 and T2), however, not with stage … Read more OBJECTIVE To evaluate trends in urine aquaporin-1 (AQP1) and perilipin 2. Read More ...
OBJECTIVE To evaluate trends in urine aquaporin-1 (AQP1) and perilipin 2 (PLIN2) concentrations in sufferers with very clear cell and papillary renal cell carcinoma (RCC) this analysis determined the partnership between your urine concentration of the biomarkers and tumor size, stage and grade. mainly on tumor size (levels T1 and T2), however, not with stage … Read more OBJECTIVE To evaluate trends in urine aquaporin-1 (AQP1) and perilipin 2. Read More ...
Last night Taylor and I ditched the kids and went to Williams schools charity silent auction. While we didnt win anything, we did have a good time. We had a chance to talk to Williams teacher too which was nice. For me there is always a moment of awkwardness approaching her. Other than Taylor and I, she spends the most time with William but we arent friends. I dont hang out with her, I dont know a lot about her life etc. So really we only have William in common and I never know what to say to her exactly. Obviously I want to hear about William in school but I also want to be polite and not bombard her with questions about my son. Anyway, the awkwardness wore off pretty quickly. We had a great conversation (about William) and I learned that hes doing advanced work in math. We already knew that he could count beyond 100. (Though he forgets 13, 14, and 15 EVERY TIME he counts, but he remembers 113, 114, and 115. Weird, right?) Apparently she has introduced William to some of the older kids ...
William Faulkner Questions including What foods would William Faulkner have eaten and How old was William Faulkner at death
Have to say it, Marianelli is getting better and better and it wouldnt surprise me if hed become the John Williams for the next generation of filmmakers. ...
Deron Williams has struggled for the second consecutive season, and seen his numbers dip across the board. Injuries have been a major factor, but Brookly
Was Serena Williams Wimbledon meltdown a sign of her final fade, or is a little controversy exactly what this ferocious competitor needs to keep going?
Page 2 | I just got back from Mexico city after having done treatment with Dr. Williams this past Monday. The treatment consisted of me being put unde...
Find William H Rotzler Md located at 707 Hollybrook Dr Ste 400, Longview, Texas, 75605. Contact 9032363035. Ratings, reviews, hours, phone number and directions from ChamberofCommerce.com
Rukayat Jimoh Twenty-five-year-old Godwin Williams, a native of Aham community in Anambra State, has proved himself to be an incarnate .... ...
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Looking for online definition of dancer's foot malformation in the Medical Dictionary? dancer's foot malformation explanation free. What is dancer's foot malformation? Meaning of dancer's foot malformation medical term. What does dancer's foot malformation mean?
Splenic marginal zone lymphoma (SMZL) is a type of cancer (specifically a lymphoma) made up of B-cells that replace the normal architecture of the white pulp of the spleen. The neoplastic cells are both small lymphocytes and larger, transformed lymphoblasts, and they invade the mantle zone of splenic follicles and erode the marginal zone, ultimately invading the red pulp of the spleen. Frequently, the bone marrow and splenic hilar lymph nodes are involved along with the peripheral blood. The neoplastic cells circulating in the peripheral blood are termed villous lymphocytes due to their characteristic appearance. Under older classification systems, the following names were used: The cell of origin is postulated to be a post-germinal center B-cell with an unknown degree of differentiation. SMZL is a form of cancer known to be associated with Hepatitis C virus infection.[citation needed] Enlargement of the spleen is a requirement for the diagnosis of SMZL and is seen in nearly all people affected ...
Maternal uniparental disomy for chromosome 15 or a deletion of 15q11.2-q13 from the paternally derived chromosome 15 is strongly supportive of the clinical diagnosis of PWS. Paternal uniparental disomy for chromosome 15 or a deletion of 15q11.2-q13 from the maternally derived chromosome 15 is strongly supportive of the clinical diagnosis of AS. The occurence of uniparental disomy is, however, rare in AS ...
Copyright © 2018 Frontline Medical Communications Inc., Parsippany, NJ, USA. All rights reserved. Unauthorized use prohibited.The information provided is for educational purposes only. Use of this Web site is subject to the medical disclaimer and privacy policy. ...
... (WS) is the rare neurodevelopmental disorder characterized by: an elfin or distinctive facial appearance, along with a low nasal bridge; a demeanor which is unusually cheerful, and ease with strangers; strong language skills with developmental delay. This is the forum for discussing anything related to this health condition
In our bodys cells, the SERPINB6 molecule, serpin peptidase inhibitor, clade B (ovalbumin), member 6, is one of our human genes found on chromosome 6 at the 6p25.2 position
A new study finds that adults with Williams syndrome-who are extremely social and trusting-use Facebook and other social networking sites frequently and are especially vulnerable to online victimization.
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Souza William Marciel de, Centro de Pesquisa em Virologia, Faculdade de Medicina, Universidade de São Paulo, Ribeirão Preto, SP, Brasil. [email protected]
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Whats the most rewarding aspect of being a doctor? We can have an impact with everything we do in cardiology -- we are able to really change the outcome of patients, says Kim A. Williams Sr., MD, Ame
Explore some of William S. Burroughs best quotations and sayings on Quotes.net -- such as A functioning police state needs no police. and more...
Jared T Williams, M.D. specializes in Family Medicine and is located in Costa Mesa, CA. Choose a doctor that chooses Hoag. Call (714) 668-2500
The comments are so very true. I myself feel as you do some days, so very tired and feel very low.Other days feel not so bad. l now become very dizzy when stooping l also feel physically sick ...
Be respectful to your dog and he will be respectful to you. Be patient and let him be dog. Realize that the dogs observes you and sees everything. Learn to understand your dog. And if your dog does something wrong to you, think for yourself and try to figure out which signals you were giving him. A dog is what you make of it ...
How common is each answer word? This chart shows the number of puzzles each word has appeared in across all NYT puzzles, old and modern. ...
How common is each answer word? This chart shows the number of puzzles each word has appeared in across all NYT puzzles, old and modern. ...
|p||span style=color: #990033;font-size: 1.2em;||i|We know what we are, but we know not what we may become|/i||/span||/p| - William Shakespeare
Finally, upon review of the literature, it is well known that gain of function of the CDKN1C gene25 and maternal UPD14 (Temple syndrome)26 27 can result in a phenotype mimicking SRS. There are also other syndromic growth retardation disorders with many overlapping clinical features with those of SRS, such as mulibrey nanism and 3-M syndrome.28 29 Therefore, with the latest understanding of the molecular pathogenetic mechanisms of SRS, together with evidence21 30 31 and results from this study, we propose the diagnostic algorithm for Chinese SRS patients as depicted in Figure 2. All clinically suspected SRS patients should be assessed by a clinical geneticist. Although the Netchine et al score,7 Bartholdi et al score,12 and Birmingham score14 are highly specific, they are less sensitive than the Hitchins et als criteria15 for diagnosing SRS in our Chinese cohort. Therefore, the Hitchins et als criteria15 should be used clinically to classify those suspected SRS patients into likely or ...
The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013 ...
We have shown previously that our RNA-based classifier is a more accurate prognostic indicator than monosomy 3 or clinicopathologic factors in uveal melanoma (13, 18). Nevertheless, we recognized the need to develop a DNA-based assay both as a supplement to the RNA-based classifier and as an alternative when RNA of sufficient quality for expression profiling is not available. The DNA alteration most strongly associated with metastatic disease is monosomy 3 (4-12). In this study, we showed that a SNP-based assay for detecting LOH of chromosome 3 was superior to assessing monosomy 3 using chromosome counting techniques, such as FISH and aCGH. LOH could be inferred from SNP analysis even when matching normal DNA was not available, as shown previously for other cancers (19). Further, intratumoral genetic heterogeneity is a significant source of error when assessing monosomy 3 by FISH (20), whereas SNP was able to discern LOH in the presence of contaminating heterozygous cells.. An important ...

Integrative genomic and gene expression analysis of chromosome 7 identified novel oncogene loci in non-small cell lung cancer.Integrative genomic and gene expression analysis of chromosome 7 identified novel oncogene loci in non-small cell lung cancer.

Chromosomes, Human, Pair 7*. Gene Amplification. Gene Dosage. Gene Expression Profiling. Genomics / methods. Humans. Lung ... 753876 - Asymmetry in sister chromatids of human chromosomes.. 1442886 - Molecular detection of a 4p deletion using pcr-based ... In this study, we demonstrated that multiple loci on chromosome 7 are indeed amplified in NSCLC, and through integrative ... 20551166 - Mitotic chromosome condensation mediated by the retinoblastoma protein is tumor-suppres.... ...
more infohttp://www.biomedsearch.com/nih/Integrative-genomic-gene-expression-analysis/19088816.html

Identification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion: significance for A47 degrees...Identification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion: significance for A47 degrees...

Chromosomes, Human, Pair 7*. Genome, Human. Granulomatous Disease, Chronic / genetics*. Heterozygote. Humans. NADPH Oxidase. ... 2990828 - Organization and chromosomal specificity of autosomal homologs of human y chromosome re.... 15197728 - Chromosome ... 11101848 - A major susceptibility locus for atopic dermatitis maps to chromosome 3q21.. 12571788 - Refractory photosensitive ... in 7 persons the ratio was 1:1, and in 2 persons the ratio was 1:2. The lowered ratios are explained by the presence, in a ...
more infohttp://www.biomedsearch.com/nih/Identification-novel-NCF-1-p47/12176908.html

HKU Scholars Hub: Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in...HKU Scholars Hub: Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in...

Chromosomes, human, pair 7. en_HK. dc.subject.mesh. Adipose tissue - chemistry. en_HK. ... Article: Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human. * ... Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human. en_HK. ... Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human. ...
more infohttp://hub.hku.hk/handle/10722/44303

Multiple loci identified in a genome-wide association study of prostate cancer<...Multiple loci identified in a genome-wide association study of prostate cancer<...

Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 7 Interleukin-16 Endometrial Neoplasms ... loci on chromosomes 7, 10 (two loci) and 11 were highly significant (between P ,7.31 × 10-13 and P ,2.14 × 10-6). Loci on ... loci on chromosomes 7, 10 (two loci) and 11 were highly significant (between P ,7.31 × 10-13 and P ,2.14 × 10-6). Loci on ... loci on chromosomes 7, 10 (two loci) and 11 were highly significant (between P ,7.31 × 10-13 and P ,2.14 × 10-6). Loci on ...
more infohttps://jhu.pure.elsevier.com/en/publications/multiple-loci-identified-in-a-genome-wide-association-study-of-pr-5

Cystic Fibrosis: Chromosome 7 DNA Genotyping: An Aide in Resolving Ambiguous Diagnoses in Siblings of Known Patients<...Cystic Fibrosis: Chromosome 7 DNA Genotyping: An Aide in Resolving Ambiguous Diagnoses in Siblings of Known Patients<...

Cystic Fibrosis: Chromosome 7 DNA Genotyping: An Aide in Resolving Ambiguous Diagnoses in Siblings of Known Patients. Clinical ... Cystic Fibrosis : Chromosome 7 DNA Genotyping: An Aide in Resolving Ambiguous Diagnoses in Siblings of Known Patients. / Orr, ... title = "Cystic Fibrosis: Chromosome 7 DNA Genotyping: An Aide in Resolving Ambiguous Diagnoses in Siblings of Known Patients", ... Orr, H. T., Parker, T., Wielinski, C. L., Clawson, C. C., & Warwick, W. J. (1988). Cystic Fibrosis: Chromosome 7 DNA Genotyping ...
more infohttps://experts.umn.edu/en/publications/cystic-fibrosis-chromosome-7-dna-genotyping-an-aide-in-resolving-

Michael Cascio - Publications
     - Oregon Health & Science UniversityMichael Cascio - Publications - Oregon Health & Science University

Chromosomes, Human, Pair 21 Precursor Cell Lymphoblastic Leukemia-Lymphoma Cytogenetics Genetic Markers ... Mouse chromosome 7 harbors a quantitative trait locus for isoflurane minimum alveolar concentration. Cascio, M., Xing, Y., Gong ... Cytogenetic Variation of B-Lymphoblastic Leukemia with Intrachromosomal Amplification of Chromosome 21 (iAMP21): A Multi- ... Cascio, M. J., ODonnell, R. J. & Horvai, A. E. Apr 2010 In : Modern Pathology. 23, 4, p. 574-580 7 p.. Research output: ...
more infohttps://ohsu.pure.elsevier.com/en/persons/michael-cascio/publications/

anlage tumor retinal 2005:2010[pubdate] *count=100 - BioMedLib™ search engineanlage tumor retinal 2005:2010[pubdate] *count=100 - BioMedLib™ search engine

Chromosomes, Human, Pair 1. Chromosomes, Human, Pair 7. Comparative Genomic Hybridization. Etoposide / administration & dosage ... Chromosomes, Human, Pair 17. Epithelium / pathology. Epithelium / ultrastructure. Glial Fibrillary Acidic Protein / metabolism ... treatment guidelines - Human Herpesvirus-8 .. *[Source] The source of this record is MEDLINE®, a database of the U.S. National ... The reason for this protocol was because molecular genetic studies of this tumor showed loss of heterozygosity of chromosome 1p ...
more infohttp://www.bmlsearch.com/?kwr=anlage+tumor+retinal+2005:2010%5Bpubdate%5D&cxts=100&stmp=b0

adenosquamous cell lung cancer stage 0 2005:2010[pubdate] *count=100 - BioMedLib™ search engineadenosquamous cell lung cancer stage 0 2005:2010[pubdate] *count=100 - BioMedLib™ search engine

MeSH-minor] Chromosomes, Human, Pair 17. Chromosomes, Human, Pair 7. Gene Amplification. Gene Dosage. Gene Expression ... Chemical-registry-number] 0 / DNA, Neoplasm; 0 / KRAS protein, human; 0 / Proto-Oncogene Proteins; 0 / TP53 protein, human; 0 ... A1.1.3.1.1.4.1. Human. A1.1.3.1.1.5. Reptile. A1.1.3.2. Fungus. A1.1.3.3. Plant. A1.1.4. Virus. A1.2. Anatomical Structure. ... Human-caused Phenomenon or Process. B2.1.1. Environmental Effect of Humans. B2.2. Natural Phenomenon or Process. B2.2.1. ...
more infohttp://www.bmlsearch.com/?kwr=adenosquamous+cell+lung+cancer+stage+0+2005:2010%5Bpubdate%5D&cxts=100&stmp=b0

Hart, S.<...Hart, S.<...

10.1186/s12859-019-3169-7). Heldenbrand, J. R., Baheti, S., Bockol, M. A., Drucker, T. M., Hart, S. N., Hudson, M. E., Iyer, R ...
more infohttps://mayoclinic.pure.elsevier.com/en/persons/steven-hart

In situ hybridization localization of SPAM1 transcripts | Open-iIn situ hybridization localization of SPAM1 transcripts | Open-i

In situ hybridization localization of SPAM1 transcripts in human corpus epididymal epithelium. Histological sections were ... Chromosomes, Human, Pair 7/genetics. *Humans. *Hyaluronoglucosaminidase/metabolism. *Hydrogen-Ion Concentration. *In Situ ... Health and Human Services • 8600 Rockville Pike,Bethesda,MD 20894 Privacy • Accessibility • Freedom of Information Act • ... Health and Human Services • 8600 Rockville Pike,Bethesda,MD 20894 Privacy • Accessibility • Freedom of Information Act • ...
more infohttps://openi.nlm.nih.gov/detailedresult.php?img=PMC184449_1477-7827-1-54-3&req=4

A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7<...A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7<...

N2 - Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. This ... A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7. / Giardina, Emiliano; Peconi, ... A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7. Electrophoresis. 2009 Jun;30(11): ... A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7. In: Electrophoresis. 2009 ; Vol. 30 ...
more infohttps://moh-it.pure.elsevier.com/en/publications/a-multiplex-molecular-assay-for-the-detection-of-uniparental-diso-2

Francesca Chiaromonte, PhD - Research Output
     - Penn StateFrancesca Chiaromonte, PhD - Research Output - Penn State

Genomic environment predicts expression patterns on the human inactive X chromosome. Carrel, L., Park, C., Tyekucheva, S., Dunn ... Segmenting the human genome based on states of neutral genetic divergence. Don, P. K., Ananda, G., Chiaromonte, F. & Makova, K ... A matter of life or death: How microsatellites emerge in and vanish from the human genome. Kelkar, Y. D., Eckert, K. A., ... Human-macaque comparisons illuminate variation in neutral substitution rates. Tyekucheva, S., Makova, K. D., Karro, J. E., ...
more infohttps://pennstate.pure.elsevier.com/en/persons/francesca-chiaromonte/publications/

John Douglas Mcpherson - Fingerprint
     - UC DavisJohn Douglas Mcpherson - Fingerprint - UC Davis

Chromosomes, Human, Pair 7 Cell Line RNA Sequence Analysis Gene Library Shaw Potassium Channels ...
more infohttps://ucdavis.pure.elsevier.com/en/persons/john-douglas-mcpherson/fingerprints/

Elizabeth Thomas Bartom - Research Output
     - Northwestern ScholarsElizabeth Thomas Bartom - Research Output - Northwestern Scholars

Chromosomes, Human, Pair 7 Chromosomes Tumor Suppressor Genes Acute Myeloid Leukemia Tumors ... Exploring the characteristics of sequence elements in proximal promoters of human genes. Bina, M., Wyss, P., Ren, W., ... A Carcinogen-induced mouse model recapitulates the molecular alterations of human muscle invasive bladder cancer. Fantini, D., ... CUX1 is a haploinsufficient tumor suppressor gene on chromosome 7 frequently inactivated in acute myeloid leukemia. McNerney, M ...
more infohttps://www.scholars.northwestern.edu/en/persons/elizabeth-thomas-bartom/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle

Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7.  - PubMed - NCBIGenome-wide association study of intracranial aneurysm identifies a new association on chromosome 7. - PubMed - NCBI

chromosomes, human, pair 7; genome-wide association study; intracranial aneurysm. PMID:. 25256182. PMCID:. PMC4213281. DOI:. ... X-axis is the physical position on the chromosome (Mb). Y-axis denotes the −log10 (p-value) for association. The most ... Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7.. Foroud T1, Lai D2, Koller ... This region on chromosome 7 has been previously associated with ischemic stroke and the large vessel stroke occlusive subtype ( ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=huge&id=100676

Multipoint analysis of human chromosome 11p15 mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene...Multipoint analysis of human chromosome 11p15 mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene...

Multipoint analysis of human chromosome 11p15 mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene ... Multipoint analysis of human chromosome 11p15 mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene ... Multipoint analysis of human chromosome 11p15 mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene ... T1 - Multipoint analysis of human chromosome 11p15 mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, ...
more infohttps://pure.ulster.ac.uk/en/publications/multipoint-analysis-of-human-chromosome-11p15-mouse-distal-chromo-3

Warden, C. H.<...Warden, C. H.<...

Chromosomes, Human, Pair 7 Medicine & Life Sciences Leptin Medicine & Life Sciences View full fingerprint ... Genetics of Human Obesity. Fisler, J. S. & Warden, C. H., 2013, Nutrition in the Prevention and Treatment of Disease. Elsevier ... Brown Norway chromosome 1 congenic reduces symptoms of renal disease in fatty zucker rats. Warden, C. H., Slupsky, C., Griffey ... Leptin receptor interacts with rat chromosome 1 to regulate renal disease traits. Warden, C. H., Gularte-Mérida, R., Fisler, J ...
more infohttps://ucdavis.pure.elsevier.com/en/persons/craig-h-warden

Overlay analysis of the oligonucleotide array gene expression profiles and copy number abnormalities as determined by array...Overlay analysis of the oligonucleotide array gene expression profiles and copy number abnormalities as determined by array...

Frequent losses were defined in chromosome arms 3q, 6q, 8p, 10q, 16q, 17p, and gains were identified in chromosome 7, and ... Frequent losses were defined in chromosome arms 3q, 6q, 8p, 10q, 16q, 17p, and gains were identified in chromosome 7, and ... Frequent losses were defined in chromosome arms 3q, 6q, 8p, 10q, 16q, 17p, and gains were identified in chromosome 7, and ... Frequent losses were defined in chromosome arms 3q, 6q, 8p, 10q, 16q, 17p, and gains were identified in chromosome 7, and ...
more infohttps://augusta.pure.elsevier.com/en/publications/overlay-analysis-of-the-oligonucleotide-array-gene-expression-pro

Master regulator for chondrogenesis, Sox9, regulates transcriptional activation of the endoplasmic reticulum stress transducer...Master regulator for chondrogenesis, Sox9, regulates transcriptional activation of the endoplasmic reticulum stress transducer...

The endoplasmic reticulum (ER) stress transducer, box B-binding factor 2 human homolog on chromosome 7 (BBF2H7), is a basic ... N2 - The endoplasmic reticulum (ER) stress transducer, box B-binding factor 2 human homolog on chromosome 7 (BBF2H7), is a ... AB - The endoplasmic reticulum (ER) stress transducer, box B-binding factor 2 human homolog on chromosome 7 (BBF2H7), is a ... abstract = "The endoplasmic reticulum (ER) stress transducer, box B-binding factor 2 human homolog on chromosome 7 (BBF2H7), is ...
more infohttps://kyushu-u.pure.elsevier.com/en/publications/master-regulator-for-chondrogenesis-sox9-regulates-transcriptiona

Robert Klein - Publications
     - Oregon Health & Science UniversityRobert Klein - Publications - Oregon Health & Science University

Chromosomes, Human, Pair 7 2001 78 Citations (Scopus) Confirmation and fine mapping of chromosomal regions influencing peak ... Human ALOX12, but not ALOX15, is associated with BMD in white men and women. Ichikawa, S., Koller, D. L., Johnson, M. L., Lai, ... Ethanol inhibits human osteoblastic cell proliferation. Klein, R., Fausti, K. A. & Carlos, A. S., 1996, In : Alcoholism: ... A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. Tian, W ...
more infohttps://ohsu.pure.elsevier.com/en/persons/robert-klein/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle

Maria Montesco - Research Output
     - Italian Ministry of HealthMaria Montesco - Research Output - Italian Ministry of Health

Chromosomes, Human, Pair 7 Alleles Estimation of direct costs of melanoma in the Veneto Region: a budget assessment and cost- ... Detection of human papillomavirus in lesions of a patient with dermatosis papulosa nigra. Bertoli, P., Tarantello, M., Montesco ... Martini, G., Bacciliero, U., Tregnaghi, A., Montesco, M. C. & Zulian, F., 2001, In : Journal of Rheumatology. 28, 7, p. 1689- ... Feb 7 2018, In : Acta Dermato-Venereologica. 98, 2, p. 218-224 7 p.. Research output: Contribution to journal › Article ...
more infohttps://moh-it.pure.elsevier.com/en/persons/maria-montesco/publications/

Find Research Outputs
             - Kyushu UniversityFind Research Outputs - Kyushu University

Chromosomes, Human, Pair 7 Growth Factor Receptors Transforming Growth Factors Tumor Suppressor Genes ... GTF2IRD1 on chromosome 7 is a novel oncogene regulating the tumor-suppressor gene TGFβR2 in colorectal cancer. Nambara, S., ... FOXC2 is a novel prognostic factor in human esophageal squamous cell carcinoma. Nishida, N., Mimori, K., Yokobori, T., Sudo, T ... FANCD2 mRNA overexpression is a bona fide indicator of lymph node metastasis in human colorectal cancer. Ozawa, H., Iwatsuki, M ...
more infohttps://kyushu-u.pure.elsevier.com/en/publications/?showAdvanced=false&allConcepts=true&inferConcepts=true&publicationYear=2010&publicationYear=2011&publicationYear=2012&publicationYear=2013&publicationYear=2014&publicationYear=2015&publicationYear=2016&publicationYear=2017&publicationYear=2018&publicationYear=2019&author=8ac3fcf1-64d7-42fe-9545-1e5f43a6d13e&format=&page=1&ordering=type&descending=false

Tomonobu Hasegawa - Fingerprint
     - Keio UniversityTomonobu Hasegawa - Fingerprint - Keio University

Chromosomes, Human, Pair 7 Congenital Hypothyroidism DiGeorge Syndrome Dihydrotestosterone Disorders of Sex Development ...
more infohttps://keio.pure.elsevier.com/en/persons/tomonobu-hasegawa/fingerprints/?sortBy=alphabetically

Crop Sciences - Research Output
     - University of Illinois at Urbana-ChampaignCrop Sciences - Research Output - University of Illinois at Urbana-Champaign

Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 7 Lycopersicon esculentum total soluble solids ... Comparison of related wheat stocks possessing 1B or 1RS.1BL chromosomes: Agronomic performance. Carver, B. F. & Rayburn, A. L. ... Characterization of the effect of introgressed segments of chromosome 7 and 10 from Lycopersion chmielewskii on tomato soluble ... Iqbal, M. J., Gray, L. E., Paden, D. W. & Rayburn, A. L., Jan 1 1994, In : Plant Varieties and Seeds. 7, 1, p. 59-63 5 p.. ...
more infohttps://experts.illinois.edu/en/organisations/crop-sciences/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle&type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontoperiodical%2Farticle&page=56
  • The presence of recurring chromosome 7 alterations that do not span the well-studied oncogenes EGFR (at 7p11.2) and MET (at 7q31.2) has raised the hypothesis of additional genes on this chromosome that contribute to tumourigenesis. (biomedsearch.com)
  • The detection of gene activation in multiple cohorts of samples strongly supports the presence of key genes involved in lung cancer that are distinct from the EGFR and MET loci on chromosome 7. (biomedsearch.com)
  • Combined analysis of gene expression array data and array-based comparative genomic hybridization data have been used in a series of 26 pediatric brain tumors to define up- and downregulated genes that coincide with losses, gains, and amplifications involving specific chromosome regions. (elsevier.com)
  • Genes Chromosomes and Cancer , 46 (1), 53-66. (elsevier.com)
  • The β-subunit of hCG gonadotropin (beta-hCG) contains 145 amino acids, encoded by six highly homologous genes that are arranged in tandem and inverted pairs on chromosome 19q13.3 - CGB (1, 2, 3, 5, 7, 8) The two subunits create a small hydrophobic core surrounded by a high surface area-to-volume ratio: 2.8 times that of a sphere. (wikipedia.org)
  • These genetic advances have allowed a more accurate classification of renal carcinoma and WilmsO tumour and it is envisaged that they will lead to a better understanding of the biological behaviour with opportunities for therapeutic intervention in this large group of important human neoplasms. (dundee.ac.uk)
  • The majority of conventional or clear cell renal carcinomas are associated with losses of chromosome 3p and mutation in the von Hippel Lindau (VHL) gene which is located on that portion of the genome. (dundee.ac.uk)
  • The first WilmsO tumour gene identified WT1, located on chromosome 11p13, encodes a zinc finger binding protein which is important in regulating the formation of the early nephron. (dundee.ac.uk)
  • Human chorionic gonadotropin is glycoprotein composed of 237 amino acids with a molecular mass of 36.7 kDa, approximately 14.5 αhCG and 22.2kDa βhCG. (wikipedia.org)
  • Papillary renal cancer is associated with different genetic abnormalities, in particular mutations of the c-met proto-oncogene and abnormalities of chromosome 7 with a small subgroup of familial papillary renal carcinomas showing evidence of abnormalities of the X chromosome. (dundee.ac.uk)
  • There has been an energetic search for genetic abnormalities which may be involved in the progression of these tumours and data revealing the importance of chromosome 14q and other chromosomal sites have been generated. (dundee.ac.uk)
  • Human chorionic gonadotropin interacts with the LHCG receptor of the ovary and promotes the maintenance of the corpus luteum during the beginning of pregnancy. (wikipedia.org)
  • Human chorionic gonadotropin (hCG) is a hormone produced by the placenta after implantation. (wikipedia.org)
  • Human chorionic gonadotropin also plays a role in cellular differentiation/proliferation and may activate apoptosis. (wikipedia.org)
  • Maternal and/or paternal UPD for chromosome 7 is the most frequently observed UPD after UPD15. (elsevier.com)
  • CASE: The diagnosis of RSS in the proband was suspected prenatally because trisomy 7 mosaicism (47,XX,+7/46,XX) and maternal uniparental heterodisomy 7 were both found in amniotic fluid cells. (elsevier.com)
  • By positional cloning in the 7q21.3-q22.1 region linked with insulin resistance and non-insulin-dependent diabetes mellitus in the Pima Indians, we identified a gene encoding an additional human PDK isoform, as evidenced by its amino acid sequence identity (>65%) with other mammalian PDKs, and confirmed by biochemical analyses of the recombinant protein. (hku.hk)
  • Analysis of the corresponding region of mouse chromosome 7 using methyltransferase-hypomorphic mice showed that the H19 imprint was fully erased, but that the allelic bias at Ipl, Impt1, p57(Kip2) and, to a lesser extent, Kv1qt1, persisted. (ulster.ac.uk)
  • Extending our study of the relationship between NCF-1 and psiNCF-1 to 53 unaffected control individuals, we found that although in most (n = 44), the ratio of pseudogene (DeltaGT) to functional gene (GTGT) sequence in amplicons spanning exon 2 was 2:1, as previously observed, surprisingly, in 7 persons the ratio was 1:1, and in 2 persons the ratio was 1:2. (biomedsearch.com)