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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Jacobsen Syndrome (11q Deletion, or 11q-) is a rare chromosomal abnormality which affects perhaps one child in 100,000 in which a portion of the 11th chromosome is missing. It was discovered by Dr. P. Jacobsen in 1973. At that time, the disease was named Jacobsen Syndrome.
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Winther, K. T., Thygesen, K. S., Jacobsen, K. W., Schiøtz, J., García de Abajo, F. J. & Puska, M. J.. 01/09/2011 → 13/08/2015 ...
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These groups, communities, or meeting places provide an opportunity for people with a common experience (such as a condition or disease, or a care-giving role) to share their concerns, and to seek and offer information and advice.
My husband John and I with our daughter Ashley attended our first WAGR weekend in July of 2010. During a deployment, John had found a web site about 11p- deletion, which our daughter Ashley was diagnosed with in 1988. He forwarded this information on to me and I quickly looked into it.. At the time of Ashleys diagnosis the doctor said that her chromosome deletion was rare with about 1 in 100,000 live births. She gave us some information and sent us on our way with numerous follow up appointments and referrals. As first time parents of a precious four month old, this type of news is devastating. There were no groups to support families; there were no support services for this diagnosis. I was very glad we had finally found a support group and that we were no longer alone.. Before attending this weekend, I had not met another child with the same diagnosis as Ashley.. What a great time we had at our first WAGR Weekend event. I had found a few people within this group on the internet and talked and ...
J:96366 Cerrato F, Sparago A, Di Matteo I, Zou X, Dean W, Sasaki H, Smith P, Genesio R, Bruggemann M, Reik W, Riccio A, The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster. Hum Mol Genet. 2005 Feb 15;14(4):503-11 ...
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OPEC is an organization in name only and its members are political entities who are motivated by political factors, says Wells Fargo Funds Brian Jacobsen.
There has been no treatment discovered for Jacobsen syndrome to date, but the symptoms can be treated. 56% of children with Jacobsen syndrome have congenital heart problems; to keep them in check, a baseline evaluation can be made by a paediatric cardiologist by carrying out an electrocardiogram or echocardiogram. Any problems that are found can be treated then. Almost all affected children are born with a bleeding disorder; monthly CBT may help ease the problem. Consecutively. platelet transfusion and ddAVP can be carried out. Medication that interferes with platelet count should be avoided, and oral contraceptive therapy may be considered for women with heavy bleeding during menses. Children affected with Jacobsen syndrome have severe to moderate intellectual disabilities and cognitive impairment. An evaluation by a neuropsychologist or a behaviour specialist like a psychiatrist or psychologist can be performed, including brain imaging like MRI or ERP. Later, as deemed appropriate, ...
Beckwith-Wiedemann syndrome (BWS) is a well-studied human overgrowth disorder, associated with visceromegaly, exomphalos, and predisposition to Wilms tumor and other pediatric cancers. BWS is a clinical syndrome, not a single disorder. Phenotypic heterogeneity is prominent, and we now appreciate that this reflects an underlying molecular heterogeneity. The syndrome can be caused by various molecular defects, which lead to altered expression of certain imprinted genes on chromosome 11p15. Multiple studies have revealed striking epigenotype-phenotype correlations, in which exomphalos tracks with one type of imprinting defect, affecting the CDKN1C gene, while Wilms tumor predisposition tracks with a different imprinting defect, affecting the IGF2 and H19 genes. Here we review the clinical and molecular features of BWS and summarize the data from these recent investigations. We also review the fascinating association of BWS with twinning, and discuss preliminary studies suggesting an increased ...
Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term hemihyperplasia has replaced the term hemihypertrophy to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor.. Hoyme et al. (1998) provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia.. Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome, neurofibromatosis, Proteus syndrome, and ...
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Our study of 97 infants with ALL (80/97 with MLL-R), accrued to COG Infant ALL Trial P9407, represents the largest cohort of infants reported to date to undergo gene expression profiling. The 5-year EFS among these infants was very poor (41%), with superior survivals seen among infants with MLL-G, age more than 90 days, and low WBC counts at disease presentation. Expression profiling initially identified a number of genes that were significantly associated with EFS in the infant cohort (EPS8, TACC2, FLT3, MEIS1, and IL1R2), including genes known to play a role in MLL-mediated leukemogenesis (MEIS1), tumor progression (STAB1), and therapeutic resistance in T-cell malignancies (KCNK12).24,25 Pathways analyses further demonstrated complex interaction patterns among these genes, all converging on the adaptor protein GRB2 that plays a critical role in tyrosine kinase and Ras cell-signaling pathways (detailed analysis in supplemental Figure 5).. Our final model predictive of outcome in the entire ...
Hemihyperplasia, also known as hemihypertrophy, is asymmetry in size between the right and left of the body, more than can be attributed to normal variation. Terminology Hemihyperplasia is more scientifically correct than hemihypertrophy as the...
Every year I look forward to WAGR weekend. It is a place where everyone is the same and you dont get looked at funny when your brother is screaming or going through another meltdown. When you are at WAGR Weekend you dont have to feel alone, because you are not the only family that is going through the meltdowns, temper and anger problems. WAGR weekend is a time when you can connect with other siblings that share and endure the same things as you. This year I was very lucky to spend time with Rockie. I loved that we could have fun together and share stories about our siblings. WAGR Weekend is a great way for families to connect with one another and to feel at home. I am very excited that my family is hosting WAGR Weekend again in 2011 and I hope to see everyone there!. Ashley Prusakiewicz, MI (sister to Nicholas, 14 years old). Reprinted from the WINGS newsletter, Fall/Winter 2010. ...
Here´s some information in English since there´s a lot of people looking at my blog who don´t understand Norwegian.. My son has Jacobsen Syndrome 11q24.1. He was born at 9 desember 2008 in pregnancy week 30. He was taken by surgery because he didn´t get enough nutrition. Leon was only 840 kilogram at birth.. Under the surgery Leon also got a bleeding in the brain and since his trombocytts was very low, there was danger for his life.. Leon did survive!! And we spent the next 4 months in the hospital. Leon needed blood and tromocytts every 2-3 days and there was times that the situation was critical.. Leon has short upper arms, thigts, finger, toes and neck. The doctores thought he maybe was a dwarf and they took a bloodsample of his cromosome. This is how they found out that Leon have Jacobsen Syndrome.. At this point, Leon has been home for 6 months and there hasn´t been any kind of infections or bleeding. The trombocytts is now at 68 and raising.. Leon has some problems with his eyes. He ...
See what patients have to say about Dr. Garth Jacobsen, MD, a highly rated General Surgery Specialist in San Diego, CA specializing in Hernia Repair, Inguinal Hernia Repair, Open, Umbilical Hernia.
DTU udvikler teknologi for mennesker. Med vores forskning og uddannelser i international topklasse er vi med til at skabe en bedre verden, og vi bidrager til løsningen af de globale udfordringer formuleret i FNs 17 verdensmål for en bæredygtig udvikling.. H.C. Ørsted grundlagde DTU i 1829 med en klar vision om at udvikle og nyttiggøre naturvidenskab og teknisk videnskab til gavn for samfundet. Den vision lever den dag i dag. ...
If freedom only gets you out of religious obligation and not into Fathers life at a whole new level, it will be your ruin, not your release. (October 2003)
TY - JOUR. T1 - Molecular diagnosis of Beckwith-Wiedemann Syndrome using quantitative methylation-sensitive polymerase chain reaction. AU - Coffee, Bradford. AU - Muralidharan, Kasinathan. AU - Highsmith, William E.. AU - Lapunzina, Pablo. AU - Warren, Stephen T.. PY - 2006/10/1. Y1 - 2006/10/1. N2 - PURPOSE: Beckwith-Wiedemann Syndrome is caused by defects in imprinted gene expression at 11p15. Currently, quantitative Southern analysis using DNA methylation-sensitive restriction enzymes is used in molecular diagnosis of this syndrome. METHODS: We describe a rapid and highly quantitative test for assessing DNA methylation at 11p15 using sodium bisulfite treatment of genomic DNA coupled with quantitative TaqMan methylation-sensitive polymerase chain reaction. RESULTS: TaqMan MSP can assess DNA methylation at both differentially methylated region (DMR)1 and DMR2 at 11p15. In addition, by using TaqMan MSP we were able to determine the parent of origin of a duplication of 11p15 by quantification of ...
Joyce Penelope Jacobsen is Andrews professor of economics at Wesleyan University, Middletown, and past president of the International Association for Feminist Economics (IAFFE), her tenure was 2016 to 2017. Jacobsen is also an expert for the Institute for New Economic Thinking. Jacobsen earned her A.B. from Harvard University in 1982, and her Ph.D. from Stanford University in 1991. 2007 Binswanger Prize for Excellence in Teaching Jacobsen, Joyce P. (1982). Locational determinants of the U.S. insurance industry (A.B. thesis). Harvard University. OCLC 12190094. Jacobsen, Joyce P. (1991). Earnings and employment differences by race and sex, by economic sector (Ph.D. thesis). Stanford University. OCLC 38675868. Jacobsen, Joyce P.; Skillman, Gilbert L. (2004). Labor markets and employment relationships: a comprehensive approach. Malden, Massachusetts: Blackwell Publishing. ISBN 9780631208365. Jacobsen, Joyce P. (2007). The economics of gender (3rd ed.). Malden, Massachusetts: Blackwell Publishing. ...
Natural History: Macroglossia and macrosomia are usually present at birth, although postnatal onset can occur. Neonatal hypoglycemia is common. Hemihyperplasia becomes more apparent as the child grows and may be limited to only one side of the body. Although cardiomegaly is common, it usually resolves on its own. Childhood malignancies and renal anomalies pose large health threats and mortality risks. After childhood, the complications for patients with BWS are infrequent ...
NIH Rare Diseases : 50 chromosome 11q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 11. the severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. features that often occur in people with chromosome 11q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. chromosome testing of both parents can provide more information on whether or not the deletion was inherited. in most cases, parents do not have any chromosomal anomaly. however, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. the balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like ...
hemihyperplasia. // Tabers Cyclopedic Medical Dictionary;2005, p959 A definition of the medical term "hemihyperplasia" is presented. Hemihyperplasia refers to the excessive development of one side or one half of the body or of an organ. The word "plassein" means to form. The definition is from the "Tabers Cyclopedic Medical Dictionary," published by F. A. Davis Co. ...
Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from 16 laboratorie
... is a cancer of the kidneys that usually affects newborns and the very young. Fortunately, most kids with Wilms tumor survive and go on to live normal, healthy lives.
Wilms Tumor in Telugu - ఈ వ్యాసములో, మీరు విల్మ్స్ ట్యూమర్ అంటే ఏమిటో తెలుసుకుంటారు. ఇంకా అది విల్మ్స్ ట్యూమర్ యొక్క వ్యాధినిర్ధారణ మరియు చికిత్సతో పాటుగా విల్మ్స్ ట్యూమర్ యొక్క లక్షణాలు మరియు కారణాల గురించి చెబుతుంది.
The Novo Headquarters in Copenhagen was designed by the Danish architect and designerArne Jacobsen in 1935. The building was listed as an example of...
Medical and environmental evaluations of a plant manufacturing sheet molded fiberglass reinforced plastic reveals xylene (1330207) concentrations in spray painting areas are not toxic to employees; fiberglass reinforced plastic dust is not present in toxic concentrations, but is the cause of active cases of dermatitis. Recommendations include use of protective clothing to minimize skin contact wit
Beckwith-Wiedemann syndromeDefinitionBeckwith-Wiedemann syndrome (BWS) refers to a disorder of overgrowth. This condition is usually characterized by large body size (macrosomia), large tongue (macroglossia), enlarged internal organs (visceromegaly), the presence of an abdominal wall defect (umbilical hernia or omphalocele ), and low blood sugar in the newborn period (neonatal hypoglycemia). Source for information on Beckwith-Wiedemann Syndrome: Gale Encyclopedia of Genetic Disorders dictionary.
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Beckwith-Wiedemann syndrome
Microcell-mediated chromosome transfer (MMCT) is a technique by which single or small numbers of chromosomes can be transferred from one mammalian cell to another by microcell fusion [1-3]. This technique can move the large intact genomic structures of natural chromosomes or artificially engineered chromosomes, and transferred chromosomes can be stably retained and freely segregate in recipient cells. Taking advantage of these features, MMCT has been employed very successfully in various basic science studies, e.g., genetic mapping and identification of tumor suppressor genes, analysis of genomic imprinting and production of animal models of disease [4-7]. Furthermore, MMCT is also used in gene transfer using a human artificial chromosome (HAC), mini-chromosome vector. HACs have several unique characteristics as gene-delivery vectors, including stable episomal maintenance in mammalian cells, the capacity to carry large transgenes, and less susceptibility to gene silencing, and have been applied ...
Distinct from most other acute lymphoblastic leukemia (ALL), infant ALL with mixed lineage leukemia (MLL) gene rearrangement, the most common leukemia occurring within the first year of life, might arise without the need for cooperating genetic lesions. Through Ig/TCR rearrangement analysis of MLL-AF4+ infant ALL at diagnosis and xenograft leukemias from mice transplanted with the same diagnostic samples, we established that MLL-AF4+ infant ALL is composed of a branching subclonal architecture already at diagnosis, frequently driven by a Ig/TCR-rearranged founder clone. Some MLL-AF4+ clones appear to be largely quiescent at diagnosis but can reactivate and dominate when serially transplanted into immune-deficient mice, whereas other dominant clones at diagnosis can become more quiescent, suggesting a dynamic competition between actively proliferating and quiescent subclones. Investigation of paired diagnostic and relapse samples suggested that relapses often occur from subclones already present ...
Solveig Heide, Sandra Chantot-Bastaraud, Boris Keren, Madeleine D Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Eloise Giabicani, Jean-Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude ...
Looking for Best's disease? Find out information about Best's disease. impairment of the normal state or functioning of the body as a whole or of any of its parts. Some diseases are acute, producing severe symptoms that... Explanation of Best's disease
This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5 region overlaps the INS gene and the 3 region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010 ...
Established from the pleural effusion of a 60-year-old man with refractory immunoblastic B cell lymphoma progressed from follicular centroblastic/centrocytic lymphoma in 1990; cells were described to carry the t(14;18) leading to [email protected] (IGH-BCL2) fusion gene and to express BCL2 mRNA; the original culture was a mixture of EBV - and EBV + cells, of which the EBV - cells were isolated and clonally ...
We identified two patients with chromosomal abnormalities including SHOX trisomy by karyotype, one 9q22.3 microdeletion syndrome by CMA, two cases of Beckwith-Wiedemann syndrome by targeted MS-MLPA analysis and nine cases with heterozygous pathogenic or likely pathogenic genetic variants by multigene analysis techniques (FBN1 = 3, NSD1 = 2, NFIX = 1, SUZ12 = 1, CHD8 = 1, MC4R = 1). Three of 20 patients analyzed by WES had their diagnosis established. Only one non-syndromic patient had a definitive diagnosis. The sequential genetic assessment diagnosed 14 out of 42 (33.3%) tall patients. ...
ABERDEEN, S.D. - A South Dakota baby born with a tongue the size of an adults is smiling easily after a life-changing surgery. Little Paisley Morrison-Johnson, now 16 months old, was diagnosed with Beckwith-Wiedemann syndrome when she was born.
A familial lympho-epithelial thymoma with constitutional chromosomal translocation t (14;20) (q24;p13) is presented: the thymoma and its particular translocation are present in the mother and the two sons of her offspring. The small number of cases do not allow establishing any relation between thymoma and this particular translocation. Concerning genetic counseling, an annual thoracic radiography is necessary for all the other family members, carriers or not of the translocation.
Grimholt, U.; Hordvik, Ivar; Fosse, Vivian Jacobsen; Olsaker, I.; Endresen, Curt; Lie, Ø. 1993. Molecular cloning of major histocompability complex class I cDNAs from Atlantic salmon (Salmo salar). Immunogenetics. 37: S. 469-473 ...
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This gene is part of a gene cluster on chromosome Xp11.23. The encoded protein contains a zinc finger motif often found in transcriptional regulators, however, its exact
To cause genomic instability particularly at chromosome loci that are intrinsically difficult to replicate because of the complexity of secondary structures or
A Wilms tumour is a type of kidney cancer that usually affects young children. Wilms tumours can appear in older children and adults but this is very...
In case of symptoms or an abnormal screening test, more testing can help find out if its cancer. Learn about Wilms tumor diagnosis tests here.
Project Manager, organisational: Jacobsen, Charlotte. National Institute of Aquatic Resources, Technical University of Denmark, Søltofts Plads, Bygn. 221, 2800, Kgs. Lyngby, Denmark ...
Greek: different, other, another; divergence; a combining form denoting a condition differing from the normal or a reversal, or referring to another
The Beckwith-Wiedemann syndrome, originally described by Beckwith in 1963 and Wiedemann in 1964, included congenital anomalies such as macroglossia, exomphalos, postnatal somatic gigantism, severe hypoglycemia, abdominal wall defect, capillary nevus flameus and hemihypertrophy. Macroglossia is the most common manifestation of Beckwith-Wiedemann syndrome, with studies reporting between 82 and 95 percent of the cases. Macroglossia may cause the upper airway obstruction, deglutition difficulty, articulation interference and protrusion of dentoalveloar structures resulting in anterior open bite and a mandibular prognathism. We experienced a 5 month-old male with upper airway obstruction, deglutition difficulty and recurrent upper airway infection due to macroglossia associated with Beckwith-Wiedemann syndrome and significant improvement in respiration, feeding and oral competence at 14 months follow-up after rhomboid resection and primary closure of tongue. ...
Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental
Purpose: : To describe 3 families with Bests disease, normal electro-oculogram (EOG) and without VMD2 mutations. Methods: : Evaluation of the patients included visual acuity, fundus and autofluorescence (Heidelberg Retinal Angiograph), Goldmann visual fields, optical coherence tomography (Zeiss, OCT3), full field (ISCEV protocol) and multifocal electroretinograms, and EOG. The diagnosis of Bests disease was based on autosomal dominant inheritance, typical yellowish, autofluorescent material in the central macula accumulating beneath the retinal pigment epithelium, and decrease of the EOG Arden ratio. Results: : Among the 1130 families with various retinal dystrophies followed up in Montpellier, 40 (3.5%) were found with vitelliform macular dystrophy. Bests disease was observed in 20 of them while 13 families had adult macular vitelliform dystrophy and 7 had reticular dystrophy. In the group with Bests disease, a normal EOG was recorded in 3 families. None of these 3 families carried ...
We report on an 8-month-old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydro-nephrosis. High-resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11) (pter;pter). Both FISH and microarray CGH studies clearly demonstrated that the WHS critical regions 1 and 2 were deleted, and that the BWS imprinted domains (ID) 1 and 2 were duplicated on the der(4). Parental chromosome analysis revealed that the father carried a cryptic balanced t(4;11)(pter;pter). As expected, our patient manifests findings of both WHS (a growth ...
Wilms tumor, a childhood tumor arising from undifferentiated renal mesenchyme, is diagnosed in North America at a frequency of 1 in 10,000 live births and accounts for 5% of all pediatric cancers. The etiology of Wilms tumor is heterogeneous with multiple genes known to have an effect on Wilms tumor development; however, these genes are rarely associated with familial Wilms tumor. Gene mutations in WT1, WTX, CTNNB1 and TP53 are observed in a third of sporadic tumors, while the causative gene(s) responsible for familial Wilms tumor are largely unknown. Approximately 2% of Wilms tumor patients have a family history of Wilms tumor. Familial predisposition is inherited in an autosomal dominant manner and demonstrates incomplete penetrance, estimated to be 30%. Whole genome sequencing of eleven individuals in three Wilms tumor families was performed to identify the gene(s) responsible for genetic predisposition to Wilms tumor in these families, and to increase our understanding of a genetically heterogeneous
Screening tests are done in children with an increased risk of Wilms tumor. These tests may help find cancer early and decrease the chance of dying from cancer.. In general, children with an increased risk of Wilms tumor should be screened for Wilms tumor every three months until they are at least 8 years old. An ultrasound test of the abdomen is usually used for screening. Small Wilms tumors may be found and removed before symptoms occur. Children with Beckwith-Wiedemann syndrome or hemihyperplasia are also screened for liver and adrenal tumors that are linked to these genetic syndromes. A test to check the alpha-fetoprotein (AFP) level in the blood and an ultrasound of the abdomen are done until the child is 4 years old. An ultrasound of the kidneys is done after the child is 4 years old. In children with certain gene changes, a different schedule for ultrasound of the abdomen may be used.. Children with aniridia and a certain gene change are screened for Wilms tumor every three months until ...
It is clear that, although we have learned much about the biology of MM, many questions remain. All of the available data suggest that IgH translocations are present in a majority (∼50-60%) of tumors, yet are not sufficient to exert the full malignant potential of the clone. Although early dysregulation of cyclin D1, D2, or D3 may represent a unifying event, it seems likely that two distinct pathways exist in the pathogenesis of MM. One pathway appears to involve an early IgH translocation that usually includes one of the four recurrent partners (11q13, 4p16, 16q23, 6p21), and mostly is associated with a nonhyperdiploid chromosome content. The second pathway infrequently, if ever, involves an early IgH translocation but mostly is associated with a hyperdiploid chromosome content, perhaps a reflection of intrinsic genetic instability, although we have virtually no understanding of this pathway. The timing and nature of additional genetic events that are involved in early pathogenesis is ...
It is clear that, although we have learned much about the biology of MM, many questions remain. All of the available data suggest that IgH translocations are present in a majority (∼50-60%) of tumors, yet are not sufficient to exert the full malignant potential of the clone. Although early dysregulation of cyclin D1, D2, or D3 may represent a unifying event, it seems likely that two distinct pathways exist in the pathogenesis of MM. One pathway appears to involve an early IgH translocation that usually includes one of the four recurrent partners (11q13, 4p16, 16q23, 6p21), and mostly is associated with a nonhyperdiploid chromosome content. The second pathway infrequently, if ever, involves an early IgH translocation but mostly is associated with a hyperdiploid chromosome content, perhaps a reflection of intrinsic genetic instability, although we have virtually no understanding of this pathway. The timing and nature of additional genetic events that are involved in early pathogenesis is ...
1. monocytic leukemia, monocytic leukaemia, monoblastic leukemia, monoblastic leukaemia, histiocytic leukemia, histiocytic leukaemia, leukemia, leukaemia, leucaemia, cancer of the ...
Wilms tumor, or nephroblastoma, is the most common childhood abdominal malignancy. The median age at diagnosis of Wilms tumor is approximately 3.
Wilms tumour starts in cells of the kidney and is the most common kidney cancer in children. Learn about Wilms tumour in our guide.
Treatments for Wilms tumour include surgery, chemotherapy and radiation. Learn about treatment plans and options for Wilms tumour.
The elimination of computed tomography scans from surveillance programs for patients with favorable-histology Wilms tumor is unlikely to compromise survival.
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Learn more about Wilms Tumor at Colleton Medical Center DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
AMORIM, Robson Luis Oliveira de; BRUNONI, Andre Russowsky; OLIVEIRA, Mirian Akiko Furutani de; ZANINOTTO, Ana Luiza Costa; NAGUMO, Marcia Mitie; GUIRADO, Vinicius Monteiro de Paula; NEVILLE, Iuri Santana; BENUTE, Glaucia Rosana Guerra; LUCIA, Mara Cristina Souza de; PAIVA, Wellingson Silva; ANDRADE, Almir Ferreira de; TEIXEIRA, Manoel Jacobsen (FRONTIERS MEDIA SA, 2017) ...
Kim, JW, Jacobsen, B, Zolfaghari, E, Ferrario, A, Chevez-Barrios, P, Berry, JL, Lee, DK, Rico, G, Madi, I, Rao, N, Stachelek, K, Wang, LC & Gomer, C 2017, Graefes Archive for Clinical and Experimental Ophthalmology, pp. 1-11. DOI: 10.1007/s00417-017-3805-8 ...
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Autori: Lefter LP, Sunamura M, Furukawa T, Yastsuoka T, Abe H, Inoue H, Abe T, Egawa S, Miura K, Morita R, Horii A, Matsuno S.. Editorial: Asian J Surg. 2004 Apr;27(2):85-92., 2004.. Rezumat:. BACKGROUND: In a previous work, we demonstrated that loss of heterozygosity of 18q is a frequent event significantly associated with poor prognosis in pancreatic cancer. We hypothesized that restoration of heterozygosity of chromosome 18 in pancreatic cancer cells would reduce their tumorigenicity. This study was intended to provide functional evidence for the existence of new tumour suppressor gene(s) located on chromosome 18. METHOD: Restoration of heterozygosity was achieved by introducing a normal copy of chromosome 18 into pancreatic ductal carcinoma using a microcell-mediated chromosome transfer technique. The tumorigenicity and metastatic ability of both the parental cells and resulting hybrids were assessed in vitro and in vivo. RESULTS: In vitro growth of hybrid clones was significantly delayed ...
Blueprint Genetics Hereditary Pediatric Cancer Panel Is ideal for patients with a clinical suspicion of an inherited or a sporadic pediatric cancer syndrome due to de novo mutation. This panel is designed to
TY - JOUR. T1 - FDG-PET in a patient with gastric MALT lymphoma.. AU - Liu, Jean Dean. AU - Tai, Cheng Jeng. AU - Chang, Chun Chao. AU - Lin, Yun Ho. AU - Hsu, Chung Huei. PY - 2006. Y1 - 2006. UR - http://www.scopus.com/inward/record.url?scp=39049173967&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=39049173967&partnerID=8YFLogxK. U2 - 10.1080/02841860600724401. DO - 10.1080/02841860600724401. M3 - Article. C2 - 16938819. AN - SCOPUS:39049173967. VL - 45. SP - 750. EP - 752. JO - Acta Oncologica. JF - Acta Oncologica. SN - 0284-186X. IS - 6. ER - ...
The chromosome band track represents the approximate location of bands seen on Giemsa-stained chromosomes. Chromosomes are displayed in the browser with the short arm first. Cytologically identified bands on the chromosome are numbered outward from the centromere on the short (p) and long (q) arms. At low resolution, bands are classified using the nomenclature [chromosome][arm][band], where band is a single digit. Examples of bands on chromosome 3 include 3p2, 3p1, cen, 3q1, and 3q2. At a finer resolution, some of the bands are subdivided into sub-bands, adding a second digit to the band number, e.g. 3p26. This resolution produces about 500 bands. A final subdivision into a total of 862 sub-bands is made by adding a period and another digit to the band, resulting in 3p26.3, 3p26.2, etc. ...
The chromosome band track represents the approximate location of bands seen on Giemsa-stained chromosomes. Chromosomes are displayed in the browser with the short arm first. Cytologically identified bands on the chromosome are numbered outward from the centromere on the short (p) and long (q) arms. At low resolution, bands are classified using the nomenclature [chromosome][arm][band], where band is a single digit. Examples of bands on chromosome 3 include 3p2, 3p1, cen, 3q1, and 3q2. At a finer resolution, some of the bands are subdivided into sub-bands, adding a second digit to the band number, e.g. 3p26. This resolution produces about 500 bands. A final subdivision into a total of 862 sub-bands is made by adding a period and another digit to the band, resulting in 3p26.3, 3p26.2, etc. ...
The chromosome band track represents the approximate location of bands seen on Giemsa-stained chromosomes. Chromosomes are displayed in the browser with the short arm first. Cytologically identified bands on the chromosome are numbered outward from the centromere on the short (p) and long (q) arms. At low resolution, bands are classified using the nomenclature [chromosome][arm][band], where band is a single digit. Examples of bands on chromosome 3 include 3p2, 3p1, cen, 3q1, and 3q2. At a finer resolution, some of the bands are subdivided into sub-bands, adding a second digit to the band number, e.g. 3p26. This resolution produces about 500 bands. A final subdivision into a total of 862 sub-bands is made by adding a period and another digit to the band, resulting in 3p26.3, 3p26.2, etc. ...
The chromosome band track represents the approximate location of bands seen on Giemsa-stained chromosomes. Chromosomes are displayed in the browser with the short arm first. Cytologically identified bands on the chromosome are numbered outward from the centromere on the short (p) and long (q) arms. At low resolution, bands are classified using the nomenclature [chromosome][arm][band], where band is a single digit. Examples of bands on chromosome 3 include 3p2, 3p1, cen, 3q1, and 3q2. At a finer resolution, some of the bands are subdivided into sub-bands, adding a second digit to the band number, e.g. 3p26. This resolution produces about 500 bands. A final subdivision into a total of 862 sub-bands is made by adding a period and another digit to the band, resulting in 3p26.3, 3p26.2, etc. ...
The chromosome band track represents the approximate location of bands seen on Giemsa-stained chromosomes. Chromosomes are displayed in the browser with the short arm first. Cytologically identified bands on the chromosome are numbered outward from the centromere on the short (p) and long (q) arms. At low resolution, bands are classified using the nomenclature [chromosome][arm][band], where band is a single digit. Examples of bands on chromosome 3 include 3p2, 3p1, cen, 3q1, and 3q2. At a finer resolution, some of the bands are subdivided into sub-bands, adding a second digit to the band number, e.g. 3p26. This resolution produces about 500 bands. A final subdivision into a total of 862 sub-bands is made by adding a period and another digit to the band, resulting in 3p26.3, 3p26.2, etc. ...
About half of children born with Jacobsen syndrome, a rare inherited disease, experience social and behavioral issues consistent with autism spectrum disorders. Researchers at University of California, San Diego School of Medicine and collaborators developed a mouse model of the disease that also exhibits autism-like social behaviors and used it to unravel the molecular mechanism that connects the genetic defects inherited in Jacobsen syndrome to effects on brain function.
It is often difficult to distinguish Wilms tumors from nephrogenic rests based on imaging studies and percutaneous biopsies. The AREN0534 study uses the guideline that Wilms tumor with a single lesion 1 cm or greater in the contralateral kidney or multiple lesions (of any size) in the contralateral kidney should be treated on the synchronous bilateral Wilms tumor stratum; patients with an isolated lesion less than 1 cm in the contralateral kidney should be treated on the appropriate study for unilateral Wilms tumor OR on the unilateral Wilms tumor/contralateral nephrogenic rest stratum of this study if they have not undergone nephrectomy and are under one year of age ...
Beckwith-Wiedemann syndrome is known as a genetic growth disorder that can causes large organs, large body size, and increase weight. The children who are
In the yellow line, the ISCN formula of the presently displayed karyogram is shown. It can be entered by double-clicking that line or via the "File - Karyotype" menu.. Minor errors in the formula are automatically corrected. Among these are: not exact number of chromosomes, sex chromosomes, some description errors in the aberrations.. Additional aberrations can be introduced via the "Rearrange" menu. Breakpoints are selected from the karyogram and the ISCN formula is updated according to the ISCN standards and the corresponding karyogram is displayed.. Chromosomal bands are linked with a map viewer (NCBI or Ensembl). When the mouse is hovering over them, the band number is shown. Below the chromosomes, the number of the chromosome (for non-derivative chromosomes) or a "#" sign (for chromosomes derived from an aberration) is displayed. Hovering over the "#", information on the chromosome (the aberration which gives raise to this chromosome, and the band composition of the chromosome) are ...
Chicago, IL-In children who are at risk for Wilms tumor, the presence of a rare genetic abnormality identifies children who can have a survival benefit from the augmentation or intensification of therapy. The abnormality-loss of heterozygosity (LOH) on chromosomes 1p and 16q (LOH 1p/16q)-is associated with worse prognosis in children with Wilms tumor.
OncoLink, the Webs first cancer resource,provides comprehensive information on coping with cancer, cancer treatments, cancer research advances, continuing medical education, cancer prevention, and clinical trials
... Special Issue 18, 1998; CD-ROM for Macintosh and Windows; JCE Software, University of Wisconsin-Madison, 1101 University Ave., Madison, WI 53706-1396; Phone: (608) 262-5153 or (800) 991-5534; FAX: (608) 265-8094; email: [email protected]; Prices/Licensing (prices for non-U.S. are in parentheses): single user on a single machine, $60 ($80); additional single user copies, $45 ($65); libraries: single machine, $120 ($140); networks: up to 12 simultaneous users, $240 ($260); up to 50 simultaneous users, $800 ($820); more than 50 simultaneous users, contact JCE Software for a quote.. George B. Kauffman and Hiram William Blanken, California State University Fresno, [email protected], [email protected] This disk is the first in a multivolume series of CD-ROMs featuring collections of pictures, computer-generated graphics and animations, explanations, and Apple QuickTime videos depicting chemical reactions that ...
IFNA2 Full-Length MS Protein Standard (NP_000596), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. This gene is a member of the alpha interferon gene cluster on chromosome 9. The encoded protein is a cytokine produced in response to viral infection. Use of the recombinant form of this protein has been shown to be effective in reducing the symptoms and duration of the common cold.
Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE, A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am J Hum Genet65(6):1608-16 ...
Wilms tumor, or nephroblastoma, is the most common childhood abdominal malignancy. The median age at diagnosis of Wilms tumor is approximately 3.
The purpose of this research is to learn more about the possible causes of Wilms tumor and the effects of successful treatment for Wilms tumor.
... is a cancerous tumor that starts in the cells of the kidney. Its the most common type of kidney cancer in children. Its usually found by the time a child is age 3 or 4. The tumor can be very large before its found. And it may spread (metastasize) to other body tissues.
This Institutional Repository has been created to collect, preserve and distribute the scholarly output of NEHU.This will work as an important tool to facilitate scholarly communication and preserve the institution knowledge.. ...
Meet Aleyna, a CoachArt student who loves pizza, shopping, and soccer. In 2012, she was diagnosed with a rare type of kidney cancer called Wilms Tumor.
X-ray Diffraction Microscopy (XDM) has been gaining in popularity for nanoscale imaging of biological and material science samples. Its high penetration depth (compared to electron microscopy) and its good dose efficiency ...
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Reichel M, Gillert E, Angermüller S, Hensel JP, Heidel F, Lode M, Leis T, Biondi A, Haas OA, Strehl S, Panzer-Grümayer ER, Griesinger F, Beck JD, Greil J, Fey GH, Uckun FM, Marschalek R. Biased distribution of chromosomal breakpoints involving the MLL gene in infants versus children and adults with t(4;11) ALL. Oncogene 2001; 20, 2900-2907 ...
3q deletion information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
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- Christian Hoffmann - Im Jahr 1997 wurde erstmals über HIV-Patienten berichtet, bei denen sich wenige Wochen nach Beginn einer ART ungewöhnliche CMV-Retinitiden (Jacobsen 1997) bzw. abszedierende MAC-Infektionen (Race 1998) manifestiert hatten. So unterschiedlich Erreger und Lokalisation auch waren - gemein waren diesen Krankheitsbildern eine ausgeprägte inflammatorische Komponente und eine Immunrekonstitution. Schon früh wurde daher…
In: Proc. VIII ESA Congress: European Agriculture in a global context (Jacobsen S.E., C. R. Jensen und J. R. Porter, Eds.) KVL Kopenhagen, Dänemark, 431-432, 2004. ...
After four days of deliberation, the jury was unable to reach a verdict. Nanny Kelli Jacobsen was accused of causing the death of one-year-old Ryder
The most common form of C21orf59 mRNA has 1427 base pairs broken into seven exons. Its closest neighbors on the chromosome are ... 2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins ... A total of thirteen splice variants have been found, but only eleven protein coding ones. ... "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC ...
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, ...
"Human PubMed Reference:". "Mouse PubMed Reference:". "C11orf86 chromosome 11 open reading frame 86 [Homo sapiens (human)] - ... The transcript used for this article is made up of two exons, amounting to 1185 base pairs, and has the reference number NM_ ... Chromosome 11 open reading frame 86, also known as C11orf86, is a protein-coding gene in humans. It encodes for a protein known ... C11orf86 is located on the long arm of chromosome 11 at 11q13.2. It consists of 1732 base pairs, and is found on the plus ...
Katoh M (August 2002). "Molecular cloning and characterization of OSR1 on human chromosome 2p24". International Journal of ... "Molecular analysis of odd-skipped, a zinc finger encoding segmentation gene with a novel pair-rule expression pattern". The ... Protein odd-skipped-related 1 is a transcription factor that in humans is encoded by the OSR1 gene.[5][6][7] The OSR1 and OSR2 ... A variant human OSR1 allele which does not produce a functional transcript and found in 6% of Caucasian populations, reduces ...
In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. In oxen, the coding sequence consists ... insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. ... Human colostrum ("first milk") has the highest concentration, followed by human milk, then cow milk (150 mg/L). Lactoferrin is ... lactoferrin shows potent activity against both human immunodeficiency virus and human cytomegalovirus replication in vitro". J ...
1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most ... Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12 ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ... In humans, it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and ...
"Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... TMEM126 is located on the long arm of chromosome 11 in humans. It is found on the first sub-band of the fourth band within the ... It is 734 base pairs long and found far upstream of the coding region of TMEM126A. The promoter sequence experiences extremely ... TMEM126A has two isoforms and is found on the long arm of Chromosome 11 in region 1, band 4, sub-band 1. It is produced by the ...
... maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108-13. doi:10.1006/geno.1996.4558. PMID ... paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene. This gene encodes a member of the RIEG/PITX ... "Identification of PITX1 as a TERT suppressor gene located on human chromosome 5". Molecular and Cellular Biology. 31 (8): 1624- ... "Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a ...
This 1069 base pair promoter sequence spans 41936535-41937603 on human chromosome 4. The promoter sequence overlaps with the 5 ... Eleven different mRNA transcript variants of TMEM33 exist, 9 alternatively spliced variants and 2 unspliced forms. Only 5 ... In humans, this gene's DNA location is the short arm of chromosome 4, loci position: 4p13. The genomic range is 41937502- ... Transcripts a, b, and c have a 744 base pair long coding range and a particularly long 3' UTR that is 6000 base pairs long. In ...
A gene on chromosome A1, the lysophosphatidic acid receptor 6 (LPAR6), was identified to have a 4 base pair deletion. This ... In humans LPAR6 mutations result in a wooly hair phenotype. The Cornish Rex is a genetic mutation that originated from a litter ... Genome-wide analyses were performed in the Cornish Rex breed and in 11 phenotypically diverse breeds and two random bred ...
... is located at 15q11.2 on chromosome 15 in humans and is transcribed from the reverse DNA strand. POTEB is also known as ... The POTEB gene is 47,547 base pairs in length and is composed of 11 exons. The POTEB gene can be transcribed to create four ... POTEB has 8 predicted paralogs (According to protein sequence) in humans, with most paralogs being located on different human ... "Selective POTE Paralogs on Chromosome 2 are Expressed in Human Embryonic Stem Cells". Stem Cells and Development. 17 (2): 325- ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... MutS protein homolog 4 is a protein that in humans is encoded by the MSH4 gene. The MSH4 and MSH5 proteins form a hetero- ... indicating that it is not needed for establishing the preceding stages of pairing and synapsis of homologous chromosomes. In an ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ...
The MORN1 gene is located on Chromosome 1 at locus 1p36.33 and contains 7 MORN repeats. It has 1641 base pairs in 14 exons in ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. doi:10.1038/nature04727 ... MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene. The function of Morn1 ... MORN1 is nearby the SKI gene which encodes the SKI protein, LOC100129534, and RER1 gene on the positive strand of chromosome 1. ...
Chromosome 15 open reading frame 52 is a protein which in humans is encoded by the C15orf52 gene. This protein has a function ... The linear mRNA is 5344 base pairs long. The mRNA contains a short 5' untranslated region of 15 base pairs and a long 3' ... C15orf52 is a gene located on the reverse strand of chromosome 15 in the species Homo sapiens at locus 15q15.1. The gene is ... "A human interactome in three quantitative dimensions organized by stoichiometries and abundances." Cell 163.3 (2015): 712-723. ...
The human gene product is a 4,469 base pair mRNA with 25 predicted exons. There are 9 predicted splice isoforms of the gene, ... TMEM63A is located on the negative DNA strand of chromosome 1 at location 1q42.12, spanning base pairs 226,033,237 to ... "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain ... The predicted promoter region spans 971 base pairs, from 226,070,920 to 226,069,950 on the negative strand of chromosome 1. ...
The genomic sequence begins at base pair 49,057,531 and ends at base pair 49,141,201. The exact function of QRICH1 is not well ... QRICH1, also known as Glutamine-rich protein 1, is a protein that in humans is encoded by the QRICH1 gene. One notable feature ... QRICH1 is located on chromosome 3p21.31 and contains 11 exons. ... The QRICH1 gene is 64,363 base pairs long, encoding an mRNA ... It is expressed ubiquitously throughout the human body, although EST Profile data reveal that QRICH1 is expressed particularly ...
The COX6A2 gene, located on the p arm of chromosome 16 in position 11.12, contains 3 exons and is 698 base pairs in length. The ... Human COX6A2 genome location and COX6A2 gene details page in the UCSC Genome Browser. Mass spectrometry characterization of ... Cytochrome c oxidase subunit VIa polypeptide 2 is a protein that in humans is encoded by the COX6A2 gene. Cytochrome c oxidase ... Bachman NJ, Riggs PK, Siddiqui N, Makris GJ, Womack JE, Lomax MI (May 1997). "Structure of the human gene (COX6A2) for the ...
... from base pair 522,241 to base pair 525,549. HRas is a small G protein in the Ras subfamily of the Ras superfamily of small ... GTPase HRas also known as transforming protein p21 is an enzyme that in humans is encoded by the HRAS gene. The HRAS gene is ... located on the short (p) arm of chromosome 11 at position 15.5, ... human at the US National Library of Medicine Medical Subject ... "Human PubMed Reference:". "Mouse PubMed Reference:". Wong-Staal F, Dalla-Favera R, Franchini G, Gelmann EP, Gallo RC (Jul 1981 ...
Uncharacterized protein C14orf80 is a protein which in humans is encoded by the chromosome 14 open reading frame 80, C14orf80, ... Of the mRNA variants that have been found experimentally, the longest is 1,719 base pairs and produces a protein with 426 amino ... DeGrado-Warren J1, Dufford M, Chen J, Bartel PL, Shattuck D, Frech GC.) High-Throughput Proteomic Mapping of Human Interaction ... C14orf80 is 9,393 base pairs long and contains 11 exons that can be alternatively spliced to form different mRNA variants. ...
The human RAGE gene lies within the major histocompatibility complex (MHC) class III region on chromosome 6 and comprises 11 ... Total length of the gene is about 1400 base pairs (bp) including the promoter region, which partly overlaps with the PBX2 gene ... About 30 polymorphisms are known most of which are single nucleotide polymorphisms (SNP). The primary transcript of the human ... "Human PubMed Reference:". "Mouse PubMed Reference:". Neeper M, Schmidt AM, Brett J, Yan SD, Wang F, Pan YC, Elliston K, Stern D ...
Human homolog of M33, Chromobox homolog 2 (CBX2 ) is located on Chromosome 17, from base pair 79,777,188 to base pair ... from base pair 119,022,962 to base pair 119,031,270 (Build GRCm38/mm10)(Map). ... In human ortholog CBX2, synonyms CDCA6, M33, SRXY5 from orthology source HGNC. M33 was isolated by means of the structural ... In humans, the mutations in this gene are also associated with gonadal dysgenesis. Compound heterozygous mutations in M33 were ...
The full gene spans 62,533 base pairs (bp). Eleven exons are transcribe in the protein-coding mRNA. There is a second, less ... NHLRC2 has no human paralogs. Extensive orthologs were identified, however, using NCBI's BLAST and BLAT programs. A select ... January 2006). "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease ... The translated NHLRC2 protein is 726 amino acids long in humans and has a molecular weight of 79,442.59 g/mol. It has been ...
... 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 ... The gene encoding the enzyme is referred to as DDC and located on chromosome 7 in humans. Single nucleotide polymorphisms and ... In humans, AADC is also the rate-limiting enzyme in the formation of trace amines. Deficiency of AADC is associated with ...
... in the human gene: A 48-base pair VNTR in exon 3 C-521T in the promoter 13-base pair deletion of bases 235 to 247 in exon 1 12 ... The human protein is coded by the DRD4 on chromosome 11 located in 11p15.5.[citation needed] There are slight variations ( ... The 48-base pair VNTR has been the subject of much speculation about its evolution and role in human behaviors cross-culturally ... "The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus". American Journal of Human Genetics ...
"A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter". Human ... "Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria ... The SDHD gene is located on chromosome 11 at locus 11q23 and it spans 8,978 base pairs. The SDHD gene produces a 17 kDa protein ... Hirawake H, Taniwaki M, Tamura A, Kojima S, Kita K (1997). "Cytochrome b in human complex II (succinate-ubiquinone ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 11" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Chromosomes, Human, Pair 11" by people in this website by year ... Below are the most recent publications written about "Chromosomes, Human, Pair 11" by people in Profiles. ...
... and has been localized by in situ hybridization to the long arm of chromosome 22. As demonstrated usi ... The human stromelysin 3 (STMY3) gene, a new member of the matrix metalloproteinase (MMP) gene family, may contribute to breast ... Chromosome Mapping. Chromosomes, Human, Pair 22*. Female. Humans. Hybrid Cells. Matrix Metalloproteinase 11. ... The human stromelysin 3 (STMY3) gene, a new member of the matrix metalloproteinase (MMP) gene family, may contribute to breast ...
Chromosomes, Human, Pair 18*. Female. Helicobacter pylori* / isolation & purification. Humans. Incidence. Lymphoma, B-Cell, ... 0/Adaptor Proteins, Signal Transducing; 0/BCL10 protein, human; 0/Carrier Proteins ... BCL10 nuclear expression was observed in 7 of 8 t(11;18)(q21;q21)-positive cases and 4 of 7 t(11;18)(q21;q21)-negative cases, ... We reviewed the clinical data and histology, and we examined t(11;18)(q21;q21) and BCL10 expression pattern in 17 such cases. ...
Chromosomes, Human, Pair 11*. DNA / analysis*. Dinucleotide Repeats*. Electrophoresis, Polyacrylamide Gel / methods. Genotype. ... n repeats located on human chromosome 11p15. To investigate the utility of our approach, a large population sample of 405 ... 8242059 - The human d11s554 locus: four distinct families of repeat pattern alleles at one locus.. 1301149 - Isolation and ... Humans. Nucleic Acid Denaturation. Nucleic Acid Heteroduplexes. Pedigree. Polymerase Chain Reaction / methods. ...
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... Human, Pair 3" by people in Harvard Catalyst Profiles by year, and whether "Chromosomes, Human, Pair 3" was a major or minor ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. ...
Chromosomes, Human, Pair 14 / genetics * Chromosomes, Human, Pair 18 / genetics * Female * Gene Expression Regulation, ... The common karyotypic alterations that characterize MALT lymphomas include the trisomies 3 and 18, the translocations t(11;18)( ... Chromosomes, Human, Pair 11 / genetics * ...
Chromosome Mapping / statistics & numerical data* * Chromosomes, Human, Pair 11 / genetics * Chromosomes, Human, Pair 17 / ... The Social Responsiveness Scale scan with only male affected identified the same signals on chromosomes 11 and 17, as well as ... Results: The quantitative Social Responsiveness Scale genome scan identified two loci on chromosomes 11 and 17, with the ... highest score on chromosome 11 (z=3.22). In contrast, no linkage signals reached significance in the Autism Diagnostic ...
Chromosomes, Human, Pair 11 / genetics. Chromosomes, Human, Pair 16 / genetics. Diuretics / therapeutic use. Drug ... Humans. Hydrochlorothiazide / therapeutic use. Hypertension / drug therapy*, ethnology, genetics*. Male. Middle Aged. ... 9249498 - Myogenic constriction of human coronary arterioles.. 23628418 - Effects of single hyperinflation using a sustained ... 0/Angiotensin II Type 1 Receptor Blockers; 0/Benzimidazoles; 0/Diuretics; 0/Epithelial Sodium Channels; 0/GPR83 protein, human ...
We have identified 24 patients at our institution who had t(11;14 ... 11;14)(q13;q32). Here, we describe the clinical characteristics ... Chromosomes, Human, Pair 14 / genetics, ultrastructure*. Creatinine / blood. Disease Progression. Follow-Up Studies. ... Humans. Leukemia, Plasma Cell / genetics, mortality, pathology. Multiple Myeloma / drug therapy, genetics*, mortality, ... 2004308 - Extramedullary blast crisis in a patient with philadelphia chromosome-positive chronic .... 12506758 - Prognostic ...
European Journal of Human Genetics 22 , 480-485 Rights & permissionsfor article A 3-base pair deletion, c.9711_9713del, in ,i, ... European Journal of Human Genetics 18 , 539-543 Rights & permissionsfor article Breakpoint analysis of balanced chromosome ... Shuang Xi. * & Zirong Tang. Scientific Reports 4 Rights & permissionsfor article Growth of Hierarchal Mesoporous NiO Nanosheets ... Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing *Wei Chen ...
Human body cells normally have 46 chromosomes arranged in 23 pairs. Pairs of human chromosomes numbered from 1 through 22 are ... Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a ... Chromosomes are located in the nucleus of human cells and carry the genetic information for each individual. ... For example, "chromosome 11p13" refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of ...
From Largest (chromosome pair 1) to smallest (chromosome pair 22). 23rd pair is the sex chromosomes ... Only one X chromosome is ever active in a human cell. The others are inactivated and form condensed structures around the ... Loss of one chromosome i.e. One chromosome pair exists as a single chromosome ... Region of chromosome deleted is internal to chromosome. Terminal - Region of chromosome deleted at the end of a chromosome ...
CDKNIC and 1GF1 in mature human dopaminergic neurons.(A) Amplification plot for tyrosine hydroxylase copy RNA from neuromelanin ... Chromosomes, Human, Pair 11*. *Dopamine/metabolism*. *Embryonic Stem Cells/cytology*. *Gene Expression Profiling* ... IGF2 and CDKN1C were also found to be highly expressed in mature human TH-positive dopamine neurons isolated from human brain ... IGF2 and CDKN1C were also found to be highly expressed in mature human TH-positive dopamine neurons isolated from human brain ...
The human genome consists of 22 pairs of autosomes plus two sex chromosomes. Any unique DNA sequence should thus be represented ... 6A). TheBACE2 locus is near the end of the long arm of human chromosome 21 (q22.3) (Fig. 2), and thus, at least two chromosomal ... The first probe consisted of overlapping BAC clones encompassing theBACE1 locus on human chromosome 11 (Fig.2). To assess the ... Cultured human lymphocytes (line GM07038A) were received from the Human Genetics service of University Hospitals/Case Western ...
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, ...
The 23rd pair, the sex chromosomes, differ between men and women.. *Men have one Y chromosome and one X chromosome. Women have ... In humans, each cell contains 23 pairs of chromosomes, for a total of 46. ... From NHGRI to you: Have a happy Fathers Day and learn about the Y chromosome - the chromosome of all living men that is ... The Y chromosome is one-third the size of the X chromsome. The X has more than 1,000 genes, while the Y has fewer than 200. ...
... paired box 6 PCNX3 encoding protein Pecanex homolog 3 PGA3 encoding protein Pepsinogen 3, group I (pepsinogen A) PIWIL4 ... Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs (the building material of ... chromosomes in the human genome. More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single ... The following is a partial list of genes on human chromosome 11. For complete list, see the link in the infobox on the right. ...
... the vast majority of it is in chromosomes in the nucleus; but a small amount is in each mitochondrio... ... Humans have 37 genes in their mitochondria, in a total of only 16 569 base pairs. Compare this to the genome in the chromosomes ... There are two places in a cell where DNA is stored: the vast majority of it is in chromosomes in the nucleus; but a small ... The chromosomes are divided and both parents contribute to their offsprings chromosomal DNA (in those species which reproduce ...
Chromosomes, Human, Pair 11. -. dc.subject.mesh. DNA Methylation. -. dc.subject.mesh. alpha-Crystallin B Chain - physiology. - ... Chromosome 11q. Irradiation microcell-mediated chromosome transfer. Microcell hybrid. Nasopharyngeal carcinoma. Issue Date. ... The chromosome 11 fragment containing the 1.8 Mb NPC CR at 11q13 (CR1), the CR at 11q22.3 mapped near D11S2000 (CR2), part of ... The chromosome 11 fragment containing the 1.8 Mb NPC CR at 11q13 (CR1), the CR at 11q22.3 mapped near D11S2000 (CR2), part of ...
The most common form of C21orf59 mRNA has 1427 base pairs broken into seven exons. Its closest neighbors on the chromosome are ... 2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins ... A total of thirteen splice variants have been found, but only eleven protein coding ones. ... "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC ...
Every chromosome pair had a least one rearrangement. No normal X chromosomes were observed and Y chromosomes were absent by QM ... This is a hyper-triploid human cell line with a modal chromosome number of 75. Homogeneously staining regions and dicentric ... No normal X chromosomes were observed and Y chromosomes were absent by QM staining. Normal copies of chromosomes 2,6,11,13,16 ... a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). ...
Chromosomes, Human, Pair 11. en_US. dc.subject.mesh. Chromosomes, Human, Pair 4. en_US. ...
However, our comprehensive analysis of allelic methylation status of 149 CGIs on human chromosome 21q revealed that a sizable ... Chromosomes, Human, Pair 11 / genetics* * Chromosomes, Human, Pair 21 / genetics* * CpG Islands / genetics* ... A comprehensive analysis of allelic methylation status of CpG islands on human chromosome 11q: comparison with chromosome 21q ... However, our comprehensive analysis of allelic methylation status of 149 CGIs on human chromosome 21q revealed that a sizable ...
Chromosomes, Human, Pair 11 / genetics Actions. * Search in PubMed * Search in MeSH ... Chromosome 11q13.5 Variant Associated With Childhood Eczema: An Effect Supplementary to Filaggrin Mutations GM ORegan et al. J ...
Chromosome Mapping; Chromosomes, Human, Pair 11/genetics; DNA, Complementary/genetics; Genes, ras; GTP Phosphohydrolases/* ... Structure of the human ARHG locus encoding the Rho/Rac-like RhoG GTPase. Le Gallic, L.; Fort, P. ... Structure of the human ARHG locus encoding the Rho/Rac-like RhoG GTPase. ... Humans; Animals; Transcription Factors/*genetics; Molecular Sequence Data; Promoter Regions (Genetics); Base Sequence; Cell ...
  • Between the Expression Profiles and the EST Profile on UniGene, only 11 tissues were shown not to express C11orf73, most likely due to small sample sizes in the tissue. (wikipedia.org)
  • Mapping By PCR analysis of a human-hamster somatic hybrid DNA panel, Funk et al. (wikipedia.org)
  • At the time, cloning techniques allowed for generation of clones of limited size (up to 240kb), and cytogenetic techniques allowed for mapping such clones to a small region of a particular chromosome to a resolution of around 5-10Mb. (wikipedia.org)
  • End-sequence profiling (ESP) (sometimes "Paired-end mapping (PEM)") is a method based on sequence-tagged connectors developed to facilitate de novo genome sequencing to identify high-resolution copy number and structural aberration such as inversion and translocation. (wikipedia.org)
  • In the case of an insertion or a deletion, mapping of the paired-end is consistent with the reference genome. (wikipedia.org)
  • These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). (wikipedia.org)
  • The program ElDorado, by Genomatix, identified the promoter region of C11orf86 on the positive strand from 66974707 to 66975464, for a total length of 758 base pairs. (wikipedia.org)
  • The chromosome is ~191 megabases in length. (wikipedia.org)
  • Total length of the gene is about 1400 base pairs (bp) including the promoter region, which partly overlaps with the PBX2 gene. (wikipedia.org)
  • The vast majority of bacteria, which typically range between 1 and 5 micrometers in length, are harmless or beneficial to humans. (wikipedia.org)
  • The size of the human genome is so large, compared to the length that could be sequenced directly, that it was necessary to divide the genome into fragments. (wikipedia.org)
  • Attention is paid to their length, the position of the centromeres, banding pattern, any differences between the sex chromosomes, and any other physical characteristics. (wikipedia.org)
  • The differences, including orientation and length variations between constructed chromosomes and the reference genome, will suggest copy number and structural aberration. (wikipedia.org)
  • 2002. 'Construction and analysis of a Human-Chimpanzee Comparative Clone Map. (answers.com)
  • Single nucleotide polymorphisms and other gene variations have been investigated in relation to neuropsychiatric disorders, e.g., 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. (wikipedia.org)
  • It is one of roughly 10 million tiny differences, known as single nucleotide polymorphisms, or SNPs (pronounced "snips") scattered across the 23 pairs of human chromosomes from which 23andMe takes its name. (nytimes.com)
  • The common karyotypic alterations that characterize MALT lymphomas include the trisomies 3 and 18, the translocations t(11;18)(q21;q21), t(1;14)(p22;q32), t(14;18)(q32;q21), t(3;14)(q27;q32), and the recently described t(3;14)(p14.1;q32). (nih.gov)
  • In Boston, USA 55% of 47,XYY boys (6 of 11) identified in a newborn screening program had learning difficulties and received part-time resource room help compared to 11% (1 of 9) in an above-average-IQ control group of 46,XY boys with familial balanced autosomal chromosome translocations. (wikipedia.org)
  • Inversions and translocations are relatively easy to detect by an invalid pair of sequenced-end. (wikipedia.org)
  • This motor's function is crucial during the onset of mitosis, wherein its loss of function results in the collapse, or inversion, of the spindle poles leaving centrally positioned centrosome pairs flanked by a radial array of microtubules with peripheral condensed chromosomes. (wikipedia.org)
  • Studies in several organisms indicate that Aurora B oversees chromosome biorientation by ensuring that appropriate connections are made between spindle microtubules and kinetochores. (wikipedia.org)
  • Aurora B inhibition may lead to an increase in the number of syntelic attachments (sister chromatid pairs in which both sister kinetochores are attached to microtubules radiating from the same spindle pole). (wikipedia.org)