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.

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. (1/874)

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar degeneration caused by the expansion of a CAG trinucleotide repeat in the CACNA1A gene. Mutations in patients are characterised by expanded alleles of between 21 and 30 repeat units and by extreme gonadal stability when transmitted from parents to children. We have investigated the SCA6 mutation in a large Spanish kindred in which previously reported spinocerebellar SCA genes and loci had been excluded. We observed a 23 CAG repeat expanded allele in the 13 clinically affected subjects and in three out of 10 presymptomatic at risk subjects. Transmission of the mutant allele was stable in six parent to child pairs and in 29 meioses through the pedigree. Linkage analysis with the SCA6-CAG polymorphism and marker D19S221 confirmed the location of SCA6 on chromosome 19p13. The molecular findings in this large family confirm the expansion of the CAG repeat in the CACNA1A gene as the cause of SCA6 and the high meiotic stability of the repeat.  (+info)

The RD114/simian type D retrovirus receptor is a neutral amino acid transporter. (2/874)

The RD114/simian type D retroviruses, which include the feline endogenous retrovirus RD114, all strains of simian immunosuppressive type D retroviruses, the avian reticuloendotheliosis group including spleen necrosis virus, and baboon endogenous virus, use a common cell-surface receptor for cell entry. We have used a retroviral cDNA library approach, involving transfer and expression of cDNAs from highly infectable HeLa cells to nonpermissive NIH 3T3 mouse cells, to clone and identify this receptor. The cloned cDNA, denoted RDR, is an allele of the previously cloned neutral amino acid transporter ATB0 (SLC1A5). Both RDR and ATB0 serve as retrovirus receptors and both show specific transport of neutral amino acids. We have localized the receptor by radiation hybrid mapping to a region of about 500-kb pairs on the long arm of human chromosome 19 at q13.3. Infection of cells with RD114/type D retroviruses results in impaired amino acid transport, suggesting a mechanism for virus toxicity and immunosuppression. The identification and functional characterization of this retrovirus receptor provide insight into the retrovirus life cycle and pathogenesis and will be an important tool for optimization of gene therapy using vectors derived from RD114/type D retroviruses.  (+info)

Cell cycle-dependent expression and centrosome localization of a third human aurora/Ipl1-related protein kinase, AIK3. (3/874)

We earlier isolated cDNAs encoding novel human protein kinases AIK and AIK2 sharing high amino acid sequence identities with Drosophila Aurora and Saccharomyces cerevisiae Ipl1 kinases whose mutations cause abnormal chromosome segregation. In the present study, a third human cDNA (AIK3) highly homologous to aurora/IPL1 was isolated, and the nucleotide sequence was determined. This cDNA encodes 309 amino acids with a predicted molecular mass of 35.9 kDa. C-terminal kinase domain of AIK3 protein shares high amino acid sequence identities with those of Aurora/Ipl1 family protein kinases including human AIK, human AIK2, Xenopus pEg2, Drosophila Aurora, and yeast Ipl1, whereas the N-terminal domain of AIK3 protein shares little homology with any other Aurora/Ipl1 family members. AIK3 gene was assigned to human chromosome 19q13.43, which is a frequently deleted or rearranged region in several tumor tissues, by fluorescence in situ hybridization, somatic cell hybrid panel, and radiation hybrid cell panel. Northern blot analyses revealed that AIK3 expression was limited to testis. The expression levels of AIK3 in several cancer cell lines were elevated severalfold compared with normal fibroblasts. In HeLa cells, the endogenous AIK3 protein level is low in G1/S, accumulates during G2/M, and reduces after mitosis. Immunofluorescence studies using a specific antibody have shown that AIK3 is localized to centrosome during mitosis from anaphase to cytokinesis. These results suggest that AIK3 may play a role(s) in centrosome function at later stages of mitosis.  (+info)

RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. (4/874)

The bare lymphocyte syndrome (BLS) is characterized by the absence of MHC class II transcription and humoral- and cellular-mediated immune responses to foreign antigens. Three of the four BLS genetic complementation groups have defects in the activity of the MHC class II transcription factor RFX. We have purified the RFX complex and sequenced its three subunits. The sequence of the smallest subunit describes a novel gene, termed RFX-B. RFX-B complements the predominant BLS complementation group (group B) and was found to be mutant in cell lines from this BLS group. The protein has no known DNA-binding domain but does contain three ankyrin repeats that are likely to be important in protein-protein interactions.  (+info)

Human cts18.1 gene: chromosomal localization and PH-domain analysis. (5/874)

The human cts18.1 gene has high homology with the cytohesin gene family. By PCR analysis of a human monochromosomal somatic cell hybrid DNA panel, the cts18.1 gene was localized to chromosome 19. Diversity values of synonymous and nonsynonymous substitutions indicate that negative selection has occurred in the pleckstrin-homology (PH) domain of the cytohesin gene family. The phylogenetic tree calculated by the neighbor-joining method suggests that cts18.1 and cytohesin-2 genes are more closely related to each other than either of them is to the CLM-2 gene in the analysis of cDNA of the PH domain.  (+info)

Zim1, a maternally expressed mouse Kruppel-type zinc-finger gene located in proximal chromosome 7. (6/874)

In analysis of a conserved region of proximal mouse chromosome 7 and human chromosome 19q, we have isolated a novel mouse gene, Zim1 (imprinted zinc-finger gene 1), encoding a typical Kruppel-type (C2H2) zinc-finger protein, located within 30 kb of a known imprinted gene, Peg3 (paternally expressed gene 3). Our studies demonstrate that Zim1 is also imprinted; the gene is expressed mainly from the maternal allele and at high levels only during embryonic and neonatal stages. In contrast to most tissues, Zim1 is expressed biallelically in neonatal and adult brain with slightly more input from the maternal allele. Zim1 produces multiple transcripts that range in size from 7.5 to 15 kb. The 7.5 kb transcript is expressed at highest levels and appears to be embryo specific. Whole mount in situ hybridization analysis indicates that Zim1 is expressed at significant levels in the apical ectodermal ridge of the limb buds during embryogenesis, suggesting a potential role of Zim1 in limb formation. We have identified the potential human ortholog of Zim1 near PEG3 in a conserved, gene-rich region of human chromosome 19q13.4. The close juxtaposition of reciprocally imprinted genes has also been seen in other imprinted regions, such as human 11p15.5/Mmu7 ( H19 / Igf2 ) and suggests that the two genes may be co-regulated. These and other data suggest the presence of an unexplored, conserved imprinted domain in human chromosome 19q13.4 and proximal Mmu7.  (+info)

Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. (7/874)

BACKGROUND: Familial forms of focal segmental glomerulosclerosis (FFSGS) that exhibit autosomal dominant or recessive patterns of inheritance have been described. The genetic basis of these hereditary forms of FSGS is unknown. One recent study of a kindred from Oklahoma with an autosomal dominant form of FSGS linked this disease to a region of chromosome 19q. In addition, polymorphisms in a gene in this region on chromosome 19q13 have been linked to congenital nephrotic syndrome of the Finnish type. We have ascertained and characterized a large family with autosomal dominant FFSGS (Duke 6530). METHODS: Families were compared for clinical and genetic heterogeneity. To test for linkage of our family to this portion of chromosome 19, genomic DNA was isolated from 102 family members, and polymerase chain reaction was performed using eight microsatellite markers that spanned the area of interest on chromosome 19. Data were evaluated using two-point linkage analysis, multipoint analysis, and an admixture test. RESULTS: Linkage was excluded at a distance of +/- 5 to 10 CM for all markers tested with two-point log10 of the odds of linkage (LOD) scores and from an approximate 60 CM interval in this area of chromosome 19q via multipoint analysis. CONCLUSIONS: FSGS has been called the "final common pathway" of glomerular injury, as it is a frequent pathological manifestation with diverse etiologies. This diversity likely correlates with the genetic heterogeneity that we have established. Thus, our data demonstrate that there are at least two genes responsible for this disease, and there is genetic as well as clinical heterogeneity in autosomal dominant FSGS.  (+info)

Improved prognosis for congenital nephrotic syndrome of the Finnish type in Irish families. (8/874)

Congenital nephrotic syndrome of the Finnish type is a rare autosomal recessive disease with a high infant mortality without aggressive treatment. The biochemical basis of the disease is not understood fully but the disease locus has been mapped recently to chromosome 19q12-q13.1 in Finnish families. This paper describes the clinical features and outcome of 20 patients in Ireland with congenital nephrotic syndrome of the Finnish type who have presented since 1980. Before 1987, all infants died by the age of 3 years. After the introduction of daily intravenous albumin infusion, nutritional support, elective bilateral nephrectomy, and renal transplantation, mortality in the past decade has fallen to 30%, with no deaths in the past five years. Genetic linkage analysis was performed in six families in whom DNA was available and the locus responsible was mapped to the same region on chromosome 19 as in Finnish families, suggesting that Irish families share the same disease locus.  (+info)

*Chromosome 19 (human)

Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test. 1 (2): 145-9. ... The following is a partial list of genes on human chromosome 19. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 19. Because researchers use different approaches to ... People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 million base pairs, the building ...

*TMEM143

Located on the negative strand of human DNA, TMEM143 spans 31,882 base pairs on human chromosome 19 (19q13.33), neighbored by ... human)]". NCBI. "Tmem143 (human)". NCBI. "TMEM143 Gene". GeneCards. "TMEM143 - Normal human tissue expression profiling". NCBI ... There are no known paralogs for the human TMEM143 sequence. Possible human expression of TMEM143 protein occurs in Jurkat cells ... Chromosome 14 open reading frame 28 (C14orf28), Chromosome 14 open reading frame 28 (TRIN71), and Cytoplasmic polyadenylation ...

*C19orf67

In humans, C19orf67 is located on the minus strand of Chromosome 19 at 19p13.12 and spans 4,163 base pairs (bp). The following ... "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529-35. doi:10.1038/nature02399. PMID 15057824. " ... In humans, UPF0575 protein C19orf67 is highly expressed in the testis and breast tissue, although it is also expressed at low ... "Human BLAT Search". genome.ucsc.edu. Retrieved 2017-03-02. github.com/gxa/atlas/graphs/contributors, EMBL-EBI Expression Atlas ...

*Jane Grimwood

"320 million base pairs . . . comprising more than 10% of the human genome." They discovered that chromosome 19 has the highest ... "GNN - Two More Human Chromosomes Are Complete". www.genomenewsnetwork.org. Retrieved 2017-03-02. Grimwood, Jane; Gordon, Laurie ... gene density of any human chromosome, and were able to link certain genes on the chromosome to genetic diseases including ... Grimwood was an important part of the Human Genome Project effort, working from the Stanford Human Genome Center. Grimwood ...

*FAM129C

The FAM129C gene is 30,538 base pairs long and is mapped to 19p.13.112 on chromosome 19 (NC_000019.10) from 17523301 to ... "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529-535. doi:10.1038/nature02399. ISSN 1476-4687. ... In the human GEO profile, FAM129C appears to be expressed at lower levels in tissues with dilated cardiomyopathy by almost 50% ... Chromosome 19 has highest gene density of all human chromosomes and large clustered gene families corresponding to high G + C ...

*CCDC94

The gene product is a 1,441 base pair mRNA with 8 predicted exons in the human gene. As predicted by Ensemble, there exists one ... The predicted promoter region spans 714 basepairs from 4,246,532 to 4,247,245 on the plus strand of chromosome 19. CCDC94 is ... The human form as 323 amino acid residues, with an isoelectric point of 5.618 and a molecular mass of 37,086 Daltons. There are ... Coiled-coil domain containing 94 (CCDC94), is a protein that in humans is encoded by the CCDC94 gene. The CCDC94 protein ...

*Populus trichocarpa

Human genome: 3 billion base pairs) Proportion of heterochromatin to euchromatin: 3:7 Number of chromosomes: 19 Number of ... 803,000 base pairs, 52 genes Chloroplast genome: 157,000 base pairs, 101 genes The sequence of P. trichocarpa is that of an ... The depth of the sequencing was approximately 7.5 x (meaning that each base pair was sequenced on average 7.5 times). Genome ...

*PRP36

The human PRR36 gene consists of 7 exons and is 5723 base pairs long. PRR36 is located on the short arm of human chromosome 19 ... both on human chromosome 19 and other chromosomes, tend to more frequently produce proteins that are involved in protein- ... The gene spans between base pair numbers 7868719 and 7874441 on chromosome 19 and is located between two other genes-LYPLA2P2, ... DUF4596 on human PRP36 is 47 amino acids long, has an isoelectric point of 3.77, and is almost completely conserved across ...

*ANKRD24

... has no human paralogs. Orthologous proteins are found in other organisms. The following table represents some of the ... The gene is 4041 base pairs in length and contains 29 exons. The gene is neighbored by the gene SIRT6 that encodes for the ... The gene is located on chromosome 19 at p13.3 on the forward strand. ... Ankyrin repeat domain-containing protein 24 is a protein in humans that is coded for by the ANKRD24 gene. The gene is also ...

*Transmembrane Protein 205

Usinc UCSC genome browser BLAT against the human protein sequence it was found that the closest relative to humans to contain a ... Transmembrane Protein 205 (TMEM205) is a protein encoded on chromosome 19 by the TMEM205 gene. TMEM205 is located on the minus ... The human homologue of TMEM205 is 189 amino acids long and has a molecular weight of 21.2 kDa. It contains 4 hydrophobic ... It has been shown to be located at the plasma membrane in humans tissues and translocates to the nuclear envelope when cells ...

*POLD1

The precise location, in the GRCh38.p2 assembly, is from base pair 50,384,290 to base pair 50,418,018 on chromosome 19. The ... Fan X, Zhang Q, You C, Qian Y, Gao J, Liu P, Chen H, Song H, Chen Y, Chen K, Zhou Y (2014-01-01). "Proteolysis of the human DNA ... The human DNA Polδ is a heterotetramer. The four subunits are: (POLD1/ p125), (POLD3/ p66), (POLD2/ p50) and (POLD4/ p12), with ... Depletion of POLD1 can halt cell cycle at G1 and G2/M phases in human cells. Cell cycle block in these phases typically ...

*LENG9

The LENG9 gene is 1,930 base pairs in length and contains one exon. Genes LENG8-AS1 and CDC42EP5 neighbor LENG9 on chromosome ... human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-05-06. Database, GeneCards Human Gene. "LENG9 Gene - GeneCards , ... Human expression of LENG9 is observed in the cervix, lung, and placenta of adults. The gene is also expressed in disease states ... In humans, LENG9 has two mRNA unspliced transcript variants. Variant (1) is the longest and most conserved transcript of the ...

*KIAA1797

Located on chromosome 9 at area q21.3, the entire gene including introns and exons is 375,010 base pairs on the plus strand. ... The main isoform of the human protein is 1801 amino acid long, a total of 200,072 Da. Two distinct Domain of unknown function( ... KIAA1797 is a protein that in humans is encoded by the KIAA1797 gene. A specific single-nucleotide polymorphism rs7875153 in ... KIAA1797 was determined to express ubiquitously at varying levels throughout the human body. Based on the EST profile of ...

*Morn repeat containing 1

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. ...

*NDUFA7

Related pseudogenes have also been identified on four other chromosomes. The human NDUFA7 gene codes for a subunit of Complex I ... The NDUFA7 gene is located on the p arm of chromosome 19 in position 13.2 and spans 12,618 base pairs. The gene produces a 12.5 ... NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7 is an enzyme that in humans is encoded by the NDUFA7 gene. The ... Ton C, Hwang DM, Dempsey AA, Liew CC (Jan 1998). "Identification and primary structure of five human NADH-ubiquinone ...

*NDUFA13

The human NDUFA13 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... The NDUFA13 gene is located on the p arm of chromosome 19 in position 13.2 and spans 11,995 base pairs. The gene produces a 17 ... NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 is an enzyme that in humans is encoded by the NDUFA13 gene. The ... Chidambaram NV, Angell JE, Ling W, Hofmann ER, Kalvakolanu DV (2000). "Chromosomal localization of human GRIM-19, a novel IFN- ...

*COX6B2

The COX6B2 gene, located on the q arm of chromosome 19 in position 13.42, contains 5 exons and is 5,113 base pairs in length. ... Human COX6B2 genome location and COX6B2 gene details page in the UCSC Genome Browser. Mass spectrometry characterization of ... Cytochrome c oxidase subunit VIb polypeptide 2 is a protein that in humans is encoded by the COX6B2 gene. Cytochrome c oxidase ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: Cytochrome c oxidase subunit VIb polypeptide 2". Zong NC, Li ...

*C14orf80

Uncharacterized protein C14orf80 is a protein which in humans is encoded by the chromosome 14 open reading frame 80, C14orf80, ... Only six of these nineteen variants are predicted to not encode for a protein. Of the mRNA variants that have been found ... C14orf80 is 9,393 base pairs long and contains 11 exons that can be alternatively spliced to form different mRNA variants. ... DeGrado-Warren J1, Dufford M, Chen J, Bartel PL, Shattuck D, Frech GC.) High-Throughput Proteomic Mapping of Human Interaction ...

*UQCR11

"Human PubMed Reference:". "Mouse PubMed Reference:". Eisenberg E & Levanon EY (July 2003). "Human housekeeping genes are ... The UQCR11 gene, located on the p arm of chromosome 19 in position 13.3, is made up of 3 exons and is 8,329 base pairs in ... The UQCR11 protein may function as a binding factor for the iron-sulfur protein in Complex III, which is ubiquitous in human ... UQCR11 (ubiquinol-cytochrome c reductase, complex III subunit XI) is a protein that in humans is encoded by the UQCR11 gene. ...

*RSPH6A

2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs ... The RSPH6A gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). GRCh38: Ensembl ... of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...

*NDUFA3

The human NDUFA3 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... The NDUFA3 gene is located on the q arm of chromosome 19 at position 13.42, and it has a total span of 4,123 base pairs. The ... NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 is a protein that in humans is encoded by the NDUFA3 gene. The ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex 3 ...

*CGB7

The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and ... 1984). "The beta chorionic gonadotropin-beta luteinizing gene cluster maps to human chromosome 19". Hum. Genet. 67 (2): 174-7. ... Choriogonadotropin subunit beta is a protein that in humans is encoded by the CGB7 gene. This gene is a member of the ... Fiddes JC, Goodman HM (1980). "The cDNA for the beta-subunit of human chorionic gonadotropin suggests evolution of a gene by ...

*COX6B1

"Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ ... contains 4 exons and is 10,562 base pairs in length. The COX6B1 protein weighs 10 kDa and is composed of 86 amino acids. The ... Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N, Yokoyama-Kobayashi M, Aoki T (Dec 1994). "Construction of a human full- ... Cytochrome c oxidase subunit 6B1 is an enzyme that in humans is encoded by the COX6B1 gene. Cytochrome c oxidase 6B1 is a ...

*TMPRSS2

"TMPRSS2-ERG gene fusion causing ERG overexpression precedes chromosome copy number changes in prostate carcinomas and paired ... Teng DH, Chen Y, Lian L, Ha PC, Tavtigian SV, Wong AK (Jun 2001). "Mutation analyses of 268 candidate genes in human tumor cell ... Transmembrane protease, serine 2 is an enzyme that in humans is encoded by the TMPRSS2 gene. This gene encodes a protein that ... TMPRSS2-ERG fusion gene is the most frequent, present in 40% - 80% of prostate cancers in humans. ERG overexpression ...

*Paris japonica

With 150 billion base pairs of DNA per cell (50 times larger than that of a human haploid genome), Paris japonica may possess ... An octoploid and suspected allopolyploid hybrid of four species, it has 40 chromosomes. ... Paris japonica has the largest genome of any plant yet assayed, about 150 billion base pairs long. ... whose 130 billion base pairs weigh in at 132.83 picograms per cell. Since then, other organisms have been assayed and reported ...

*Iris songarica

It has 2 pairs of petals, 3 large sepals (outer petals), known as the 'falls' and 3 inner, smaller petals (or tepals, known as ... It has a chromosome count: 2n=20. It was also counted as 2n=22, 44 by (Zahareva and Makeushenko 1968) and (Fedorov 1969). It is ... Some of these compounds had some antioxidant activity in certain cells and some effected yeast cells expressing human estrogen ... As most irises are diploid, having two sets of chromosomes. This can be used to identify hybrids and classification of ...
A DC power system receives AC electrical power and DC electrical power from separate first and second sources simultaneously. The DC power system delivers DC electrical power to an output for use by a load requiring DC power. The DC power system includes a converter to convert AC electrical power to DC electrical power and a power sharing control device to control and distribute the DC electrical power to an output. The first source of DC electrical power includes a storage battery, which provides standby DC electrical power to the DC power system. It also includes a power sharing device, which maintains the storage battery fully charged for use at peak loads, when the DC output electrical power is insufficient to meet the DC load. The second source of DC electrical power is a cogenerator such as a fuel cell, a thermo photovoltaic generator or an internal combustion engine and an alternator for generating and delivering DC electrical power to the power sharing device, while producing and delivering
immune Uncategorized Rabbit Polyclonal to Integrin beta1, Tariquidar Oligodendroglial tumors form a definite subgroup of gliomas, seen as a an improved response to treatment and long term overall survival. marks ICIV). Gliomas exhibiting oligodendroglial features consist of oligodendrogliomas (WHO quality II) and anaplastic oligodendrogliomas (WHO quality III) aswell as oligoastrocytomas (WHO quality II), anaplastic oligoastrocytomas (WHO quality III) and glioblastomas with an oligodendroglial component (GBMO, WHO quality IV) [1]. Oligodendroglial tumors take into account 15-20% of most gliomas [2,3]. The recognition from the genes targeted by full 1p/19q co-deletion, a quality of oligodendrogliomas, is a long-standing Tariquidar search. Combined lack of entire chromosome hands 1p and 19q may be the most frequently recognized hereditary imbalance in oligodendroglial tumors, happening in 60-90% of oligodendrogliomas and 30-50% of oligoastrocytomas while they may be rarely within GBMO [4-6]. The ...
TY - JOUR. T1 - Chromosome 1p loss evaluation in anaplastic oligodendrogliomas. AU - Idbaih, Ahmed. AU - Kouwenhoven, Mathilde. AU - Jeuken, Judith. AU - Carpentier, Catherine. AU - Gorlia, Thierry. AU - Kros, Johan M. AU - French, Pim. AU - Teepen, Johannes L. AU - Delattre, Olivier. AU - Delattre, Jean-Yves. AU - van den Bent, Martin. AU - Hoang-Xuan, Khê. PY - 2008/8. Y1 - 2008/8. N2 - The chromosome (chr) 1p deletion is a favorable biomarker in oligodendroglial tumors and is even more powerful a marker when combined with chr 19q loss. As a result, the 1p deletion is taken into account more and more in clinical trials and the management of patients. However, the laboratory technique implemented for detection of this biomarker has been a topic of debate. To illustrate the usefulness of evaluating multiple loci, we here report two anaplastic oligodendrogliomas that were investigated using fluorescent in situ hybridization (FISH) and bacterial artificial chromosome (BAC)-array-based comparative ...
If patients could recognise themselves, or anyone else could recognise a patient from your description, please obtain the patients written consent to publication and send them to the editorial office before submitting your response [Patient consent forms] ...
Oligodendrogliomas are gliomas that arise in the cerebral hemispheres of young and middle-aged adults. The tumors have a propensity to arise in the gray matter or superficial white matter of the frontal lobes, but oligodendrogliomas may also arise in other regions of the central nervous system.
Mixed gliomas, such as oligoastrocytomas (OA), anaplastic oligoastrocytomas, and glioblastomas (GBMs) with an oligodendroglial component (GBMO) are defined as tumors composed of a mixture of two distinct neoplastic cell types, astrocytic and oligodendroglial. Recently, mutations ATRX and TP53, and codeletion of 1p/19q are shown to be genetic hallmarks of astrocytic and oligodendroglial tumors, respectively. Subsequent molecular analyses of mixed gliomas preferred the reclassification to either oligodendroglioma or astrocytoma. This study was designed to apply genetically integrated diagnostic criteria to mixed gliomas and determine usefulness and prognostic value of new classification in Korean patients ...
Clinical management of grade III oligodendroglioma G Simonetti, P Gaviani, A Botturi, A Innocenti, E Lamperti, A Silvani Neurooncology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy Abstract: Oligodendrogliomas represent the third most common type of glioma, comprising 4%–15% of all gliomas and can be classified by degree of malignancy into grade II and grade III, according to WHO classification. Only 30% of oligodendroglial tumors have anaplastic characteristics. Anaplastic oligodendroglioma (AO) is often localized as a single lesion in the white matter and in the cortex, rarely in brainstem or spinal cord. The management of AO is deeply changed in the recent years. Maximal safe surgical resection followed by radiotherapy (RT) was considered as the standard of care since paramount findings regarding molecular aspects, in particular co-deletion of the short arm of chromosome 1 and the long arm of chromosome 19, revealed that these subsets of AO, benefit in terms of overall
Loss of heterozygosity (LOH) of the short arm of chromosome 1 (1p) and the long arm of chromosome 19 (19q) is an early event in oligodendroglioma that occurs in up to 80% of patients and is associated with therapeutic sensitivity and longer overall survival. The purpose of this study was to confirm the reported association in patients at this centre, then identify and characterise genes that were differentially expressed and may function as a tumour suppressor or contribute to therapeutic sensitivity in oligodendroglioma. A clinical review of oligodendroglioma patients treated at Royal North Shore and North Shore Private Hospitals between 1990 and 2009 confirmed the association between LOH 1p/19q and longer overall survival in WHO grade III oligodendroglioma patients. Younger age and lower tumour grade were additionally confirmed as positive prognostic factors. Exon microarrays were used to identify changes in gene expression between oligodendrogliomas with and without LOH 1p/19q. Seventeen ...
Description: Oligodendroglioma - Pipeline Review, H1 2017, provides an overview of the Oligodendroglioma (Oncology) pipeline landscape. Oligodendroglioma i
Another name for Oligodendroglioma is Oligodendroglioma. The cause of oligodendroglioma is unknown, but genetics may play a role. Genes control the functions ...
This case was histologically proven as an oligoastrocytoma (NOS) - WHO Grade II. NOTE: This case predates the 2016 WHO classification of CNS tumor revision. As no 1p19q co-deletion status is available a formal diagnosis cannot be reached and the...
A rare, slow-growing tumor that begins in the oligodendrocytes (brain cells that nourish and support nerve cells). Also called an oligodendroglial tumor.
Oligodendroglioma is characterized by unique clinical, pathological, and genetic features. Recurrent losses of chromosomes 1p and 19q are strongly associated with this brain cancer but knowledge of the identity and function of the genes affected by these alterations is limited. We performed exome sequencing on a discovery set of 16 oligodendrogliomas with 1p/19q co-deletion to identify new molecular features at base-pair resolution. As anticipated, there was a high rate of IDH mutations: all cases had mutations in either IDH1 (14/16) or IDH2 (2/16). In addition, we discovered somatic mutations and insertions/deletions in the CIC gene on chromosome 19q13.2 in 13/16 tumours. These discovery set mutations were validated by deep sequencing of 13 additional tumours, which revealed seven others with CIC mutations, thus bringing the overall mutation rate in oligodendrogliomas in this study to 20/29 (69%). In contrast, deep sequencing of astrocytomas and oligoastrocytomas without 1p/19q loss revealed ...
OPINION STATEMENT: Anaplastic oligodendroglial tumors have gained increasing interest with the emerging role of molecular markers and systemic chemotherapy during the past years. The long-term results of two landmark trials, RTOG 9402 and EORTC 26961, have resulted in a reconsideration of the appropriate therapeutic approaches for patients with these tumors. Both trials indicate that patients whose tumors harbor a 1p/19q co-deletion benefit particularly from the addition of procarbazine/lomustine (CCNU)/vincristine (PCV) chemotherapy to radiation therapy (RT). The median survival of patients with co-deleted tumors treated within the RTOG trial with PCV before irradiation was 14.7 years compared with 7.3 years of patients who received RT alone. Median overall survival has not been reached in the RT plus PCV arm of the EORTC trial, but a similar difference can be anticipated after a follow-up of more than 12 years. In contrast, no such benefit was observed for patients with tumors lacking 1p/19q ...
These two tumour types comprise approximately one quarter of all gliomas with astrocytomas taking up the other three quarters.. What is the prognosis of patients with oligodendrogliomas? Oligodendrogliomas tend to be diagnosed more often than ependemyomas. The prognosis of patients with oliogodendrogliomas is better overall than that of patients with astrocytomas, however it worsens if the tumour progresses to the anaplastic stage. The evolution of oligodendrogliomas is similar to that of astrocytomas. If the tumour is caught in time, and treated, via means of surgery, the patient may be able to live up to ten years, and have a median survival rate of 5 years.. What do oligodendrogliomas appear like on the macroscopic and microscopic level? ...
All information about the latest scientific publications of the Clínica Universidad de Navarra. Recombinant AAV integration is not associated with hepatic genotoxicity in non-human primates and patients
The patient went on to have surgery and histology revealed the lesion to be an anaplastic oligoastrocytoma. Note: This case predates the recent (2016) revision WHO classification of CNS tumours, and thus molecular markers (IDH mutation and 1p19q...
The number of clinical, histopathologic, and molecular prognostic markers to estimate the outcome of patients with various types of gliomas, including low-grade gliomas, is steadily increasing (2, 32). In contrast, few studies have tried to distinguish markers that characterize the natural course of disease from markers that predict PFS and OS in response to specific therapeutic measures. The observation until first PD of surgically treated patients followed without adjuvant radiotherapy, or chemotherapy is the only way to determine whether a marker predicts outcome in the absence of adjuvant DNA-damaging treatment and is thus a prognostic marker independent of radiotherapy and chemotherapy. For instance, 1p/19q deletion is strongly predictive for prolonged PFS and OS in patients with anaplastic oligodendroglial tumors (WHO grade III) who are treated with radiotherapy or radiotherapy plus nitrosourea-based chemotherapy or temozolomide alone (14, 33, 34). Yet, 1p/19q deletion did not predict PFS ...
Grant] United States / NCRR NIH HHS / RR / P41 RR013218-098542; United States / NCRR NIH HHS / RR / U41 RR019703; United States / NIGMS NIH HHS / GM / R01 GM074068; United States / NCRR NIH HHS / RR / U41 RR019703-03S1; United States / NIBIB NIH HHS / EB / P41 EB015898; United States / NLM NIH HHS / LM / R01 LM007861; United States / NCRR NIH HHS / RR / P41 RR013218-02; United States / NCRR NIH HHS / RR / RR019703-03S1; United States / NCRR NIH HHS / RR / P41 RR013218; United States / NCRR NIH HHS / RR / RR013218-108434; United States / NCRR NIH HHS / RR / RR013218-098542; United States / NCI NIH HHS / CA / P01 CA067165; United States / NCRR NIH HHS / RR / P41 RR013218- ...
The brain is part of the central nervous system (CNS). The CNS also includes the spinal cord. A tumor is an abnormal growth of tissue. An oligodendroglioma is a type of CNS tumor called a glioma.
Global Markets Directs, Oligodendroglioma - Pipeline Review, H2 2012, provides an overview of the indications therapeutic pipeline. This report provides information on the therapeutic development for Oligodendroglioma, complete with latest updates, and special features on late-stage and discontinued projects. It also reviews key players involved in the therapeutic development for Oligodendroglioma. Oligodendroglioma - Pipeline Review, Half Year is built using data and information sourced from Global Markets Directs proprietary databases, Company/University websites, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources, put together by Global Markets Directs team. Note*: Certain sections in the report may be removed or altered based on the availability and relevance of data for the indicated disease.
[106 Pages Report] Check for Discount on Global Anaplastic Oligoastrocytoma Drug Market Research Report 2017 report by QYResearch Group. In this report, the global Anaplastic Oligoastrocytoma Drug market is...
Anaplastic oligodendroglial tumors are rare neoplasms with no standard approach to treatment. We sought to determine patterns of treatment delivered over time and identify clinical correlates of specific strategies using an international retrospective cohort of 1013 patients diagnosed from 19812007. Prior to 1990, most patients received radiotherapy (RT) alone as initial postoperative treatment. After 1990, approximately 50 of patients received both RT and chemotherapy (CT) sequentially and/or concurrently. Treatment with RT alone became significantly less common (67 in 19801984 vs 5 in 20052007, P | .0001). CT alone was more frequently administered in later years (0 in 19801984 vs 38 in 20052007; P | .0001), especially in patients with 1p19q codeleted tumors (57 of codeleted vs 4 with no deletion in 20052007; P | .0001). Temozolomide replaced the combination of procarbazine, lomustine, and vincristine (PCV) among patients who received CT alone or with RT (87 vs 2 in 20052007). In the most recent time
Is anyone familiar with this type of brain cancer called Anaplastic oligodendroglioma? I tried to research it and either found technical info or very
... are diffusely growing glioma, that belong to the oligodendroglial tumours. These rare brain tumours are also called „mixed glioma", since they present with an appearance of two cell origin, astrocytoma and oligodendroglioma. Please note that the following threads of our forum are currently only available in German language. ...
SUAREZ, Julio César et al. Gliomas cerebrales de bajo grado en el adulto. Rev. argent. neurocir. [online]. 2008, vol.22, n.1. ISSN 1850-1532.. Objective. Gliomas reviewed in this article are grade II tumors according to the World Health Organization (WHO), that include: fibrillary and protoplasmic astrocytomas, oligodendrogliomas and oligoastrocytomas or mix tumors (1,2,3).Low grade astrocytomas constitute 15% of brain tumors in adults, while low grade oligodendrogliomas represent 4% (2,4). We present our experience with this type of tumor operated on between January 1972 and December 2006. Material and Method. The clinical reports of 25 patients with this type of tumor were analyzed, 15 women and 10 men, which represent 15,6% of hemispheric brain gliomas in adults in our series. Results. Fifteen were fibrillary astrocytomas, 8 oligodendrogliomas and 2 oligoastrocytomas. Treatment depended on tumor localization and size. Surgery and radiotherapy were the therapeutic modalities most frequently ...
Grant] United States / NINDS NIH HHS / NS / R01 NS053468; United States / NINDS NIH HHS / NS / NS34608; United States / NINDS NIH HHS / NS / R01 NS053468-03; United States / NINDS NIH HHS / NS / NS044687-26; United States / NINDS NIH HHS / NS / R01 NS034608; United States / NCI NIH HHS / CA / CA137488; United States / NINDS NIH HHS / NS / R37 NS044687-26; United States / NINDS NIH HHS / NS / R37 NS044687; United States / NINDS NIH HHS / NS / NS053468-03; United States / NINDS NIH HHS / NS / NS44687; United States / NCI NIH HHS / CA / R01 CA137488-15; United States / NCI NIH HHS / CA / CA137488-15; United States / NINDS NIH HHS / NS / R01 NS044687; United States / NCI NIH HHS / CA / R01 ...
Learn more about Oligodendroglioma symptoms, diagnosis, and treatments from experts at Boston Childrens, ranked best Childrens Hospital by US News.
Min Aik Technology, a leading maker of hard disk drives (HDDs) components, have had increasing orders for parts for external (portable) HDDs mainly from Western Digital (WD) since 2006, and the increase will continue this year due to orders from new clients, according to industry sources.
Peutz-Jeghers Syndrome The risk for breast and ovarian cancer is increased with Peutz-Jeghers syndrome (PJS), a rare early-onset autosomal dominant disorder, associated with specific physical characteristics in addition to increased cancer risks. The features associated with Peutz-Jeghers syndrome may include the following: melanocytic macules (dark blue or brown moles) These moles may be located around and/or in the mouth (including the lips), and around the eyes, nostrils, and anus. Dark moles may als...
OBJECTIVES: I. Compare survival and time to first progression in patients with anaplastic oligodendroglioma treated with radiotherapy with or without adjuvant procarbazine, lomustine, and vincristine (PCV) following surgical resection. II. Investigate the effect of PCV on quality of life and neurologic function in these patients. III. Determine the toxicity of PCV in these patients. IV. Correlate chromosomal lesions (1p and/or 19q, 9p, p53 loss and mutation, amplification of chromosome 7, or loss of chromosome 10) with progression-free and overall survival in patients treated with these regimens.. OUTLINE: This is a randomized, multicenter study. Patients are stratified according to age, extent of resection, performance status, prior surgery, and participating center. Patients are randomized to one of two treatment arms. Arm I: Within 4-6 weeks after surgery, patients undergo radiotherapy over 7 weeks to the residual tumor volume. Arm II: Patients undergo radiotherapy as in arm I, then begin ...
Pathological differentiation of oligodendroglioma and mixed oligoastrocytoma from astrocytoma is difficult, relying on morphological characteristics due to the lack of reliable immunohistochemical stains. Oligodendrocytes, the presumed cell of origin of oligodendrogliomas, highly express the genes encoding myelin basic protein (MBP) and proteolipid protein (PLP). We analyzed the expression of these genes to determine whether they might be useful molecular markers of oligodendrocytic tumors. MBP and PLP were highly expressed in all oligodendrogliomas and minimally expressed in glioblastomas multiforme. MBP was highly expressed in mixed oligoastrocytomas, whereas PLP expression was minimal. The association between tumor classification and expression of the MBP and PLP genes was statistically significant. Expression of these genes may serve as a useful molecular marker for some subtypes of human gliomas. ...
Hi - sorry to hear of your troubles. I am an oligo survivor. Ask your doctor about Temador and the if you have the 1p 19q chromosome deletion? I hate to tell you but because of the make up of this type of tumour they will never get it all out, Temador however has been shown to be highly effective in treating it, especially if you have the chromosome deletion. Given where my tumour was, my doctors only operated when they had to - I started to have massive seizures. Even then most of the tumour was dealt with using Temador. They were hesitant to use radiation and only will resort to it if they have to.. If they put you on Temador, theyll give you anti-nausea medicine, which is creates other problems, mainly really bad constipation. I was lucky in that the nausea was not bad, but I did lose most of my sense of taste though and that significantly reduced my appetite. Both came back after chemo was over. During my course of chemo, I increased my water and fiber intake. That helped with the side ...
Hi - sorry to hear of your troubles. I am an oligo survivor. Ask your doctor about Temador and the if you have the 1p 19q chromosome deletion? I hate to tell you but because of the make up of this type of tumour they will never get it all out, Temador however has been shown to be highly effective in treating it, especially if you have the chromosome deletion. Given where my tumour was, my doctors only operated when they had to - I started to have massive seizures. Even then most of the tumour was dealt with using Temador. They were hesitant to use radiation and only will resort to it if they have to.. If they put you on Temador, theyll give you anti-nausea medicine, which is creates other problems, mainly really bad constipation. I was lucky in that the nausea was not bad, but I did lose most of my sense of taste though and that significantly reduced my appetite. Both came back after chemo was over. During my course of chemo, I increased my water and fiber intake. That helped with the side ...
Differentiating low-grade astrocytomas from low-grade oligodendrogliomas preoperatively with use of imaging is important for several reasons. First, these two tumor types are well-defined, clinicopathologic entities with distinct biologic and prognostic characteristics for which distinction based on histopathologic evaluation, the current reference standard, can be difficult and not without error (2, 3, 11). The histopathologic evaluation of low-grade glioma is challenged by a mixed cellular component in a given tumor that can lead to subjective criteria for determining the cell of origin, inherent sampling error associated with a surgical tissue specimen, and lack of specific tumor markers. Preoperative anatomic imaging already plays a complementary role by providing information on tumor location, surgical resectablity, satellite focus of tumor, and reactive changes in the adjacent brain-all of which are important factors influencing treatment and outcome, but which cannot be assessed directly ...
By siteadmin. Maytte Bustillios was given two years to live after the discovery of a cancerous tumor in her brain (Oligodendroglioma). Now, seven years and three craniotomies later, she talks to Shelley Berman about her fitness routine, mothering a child with a heart problem and dealing with the daily limitations of disability. With an analysis of … Continued ...
For the first time, the WHO classification of brain tumors has introduced molecular parameters in the diagnosis of brain tumors. Together with embryonal tumors, the diffuse gliomas have suffered significant changes in diagnosis, prognosis, and response to treatment. A new concept of
There are no specific protocols for Recombinant human Kallikrein 1 protein (ab117200). Please download our general protocols booklet
There are no specific protocols for Recombinant Human Kallikrein 5 protein (ab151839). Please download our general protocols booklet
Oligodendrogliomas are the second most common malignant brain tumor in adults and exhibit characteristic losses of chromosomes 1p and 19q. To identify the molecular genetic basis for this alteration, we performed exomic sequencing of seven tumors. Among other changes, we found that the CIC gene (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six cases and that the FUBP1 gene [encoding far-upstream element (FUSE) binding protein] on chromosome 1p was somatically mutated in two tumors. Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes ...
Mylan is target of 2 probes, has 3Q loss due to EpiPen fine - AP News: TRENTON, N.J. (AP) - The maker of EpiPen emergency allergy .12/14/2017 19:28:46PM EST.
Development, 140(22):4602-13. Faurobert, E, Rome, C, Lisowska, J, Manet-Dupe, S, Boulday, G, Malbouyres, M, Balland, M, Bouin, AP, Keramidas, M, Bouvard, D, Coll, JL, Ruggiero, F, Tournier-Lasserve, E, and Albiges-Rizo, C (2013 ...
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL), familial vascular leukoencephalopathy. Cerebral Autosomal Dominant Arteriopathy
Oligodendrogliomas are a type of glioma that are believed to originate from the oligodendrocytes of the brain or from a glial precursor cell. They occur primarily in adults (9.4% of all primary brain and central nervous system tumors) but are also found in children (4% of all primary brain tumors). The average age at diagnosis is 35 years. In anywhere from fifty to eighty percent of cases, the first symptom of an oligodendroglioma is the onset of seizure activity. They occur mainly in the frontal lobe. Headaches combined with increased intracranial pressure are also a common symptom of oligodendroglioma. Depending on the location of the tumor, any neurological deficit can be induced, from visual loss, motor weakness and cognitive decline. A computed tomography (CT) or magnetic resonance imaging (MRI) scan is necessary to characterize the anatomy of this tumor (size, location, heter/homogeneity). However, final diagnosis of this tumor, like most tumors, relies on histopathologic examination ...
Peutz-Jeghers syndrome is caused by mutations in a gene on chromosome 19 known as STK11. Genetic testing is available clinically. Mutations in STK11 are identified in nearly all individuals with a positive family history and about 90 percent of individuals with no previous family history. Almost all people with PJS will be diagnosed with one or more of the associated cancers during their lifetime.. The STK11 gene is a tumor suppressor gene, which usually controls cell growth and cell death. Both copies of a tumor suppressor gene must be altered, or mutated, before a person will develop cancer. With PJS, the first mutation is inherited from either the mother or the father and is present from birth in all cells of the body. This is called a germline mutation. Whether a person who has a germline mutation will develop cancer and where the cancer(s) will develop depends on where (which cell type) the second mutation occurs. For example, if the second mutation is in the breast, then breast cancer may ...
Peutz-Jeghers syndrome is caused by mutations in a gene on chromosome 19 known as STK11. Genetic testing is available clinically. Mutations in STK11 are identified in nearly all individuals with a positive family history and about 90 percent of individuals with no previous family history. Almost all people with PJS will be diagnosed with one or more of the associated cancers during their lifetime.. The STK11 gene is a tumor suppressor gene, which usually controls cell growth and cell death. Both copies of a tumor suppressor gene must be altered, or mutated, before a person will develop cancer. With PJS, the first mutation is inherited from either the mother or the father and is present from birth in all cells of the body. This is called a germline mutation. Whether a person who has a germline mutation will develop cancer and where the cancer(s) will develop depends on where (which cell type) the second mutation occurs. For example, if the second mutation is in the breast, then breast cancer may ...
Ten patients (3 men, 7 women; age range 24-64 years [median 39 years]) with the following tumors were enrolled: glioblastoma (6), anaplastic astrocytoma (2), anaplastic oligoastrocytoma (1), and anaplastic oligodendroglioma (1). Modified WT1 peptide-pulsed DC vaccine was administered to 7 patients, tumor lysate-pulsed DC vaccine to 2 patients, and both tumor lysate-pulsed and WT1-pulsed DC vaccine to 1 patient. The clinical response was stable disease in 5 patients with WT1-pulsed DC vaccination. In 2 of 5 patients with stable disease, neurological findings improved, and MR images showed tumor shrinkage. No serious adverse events occurred except Grade 1-2 erythema at the injection sites. WT1 tetramer analysis detected WT1-reactive cytotoxic T cells after vaccination in patients treated with WT1-pulsed therapy. Positivity for skin reaction at the injection sites was 80% (8 of 10 patients) after the first session, and positivity remained for these 8 patients after the final session. ...
Peutz-Jeghers Syndrome: A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
More mutations in the two genes were found in an additional 27 oligodendroglioma samples. In all, two-thirds of the samples studied had CIC and FUBP1 mutations.. "Whenever we find genes mutated in a majority of tumors, it is likely that the pathway regulated by that gene is critical for the development and biology of the tumor," Nickolas Papadopoulos, Ph.D., associate professor of oncology at the Johns Hopkins Kimmel Cancer Center, was quoted as saying.. In brain cancer, the Hopkins investigators say CIC and FUBP1 mutations may be the "missing link" in what scientists describe as a "two-hit" theory of cancer development. The theory is based on the fact that each cell in the human body has two copies of 23 chromosomes containing thousands of protein-producing genes. If a gene on one chromosome is damaged or deleted, the other copy makes up for the loss of protein. But if the second copy fails as well, the cell cannot make the proper protein and may become cancerous.. In oligodendrogliomas, the ...
Trabs. The 2 things you are saying about yourself are the only way I believe in beating cancer. Optomistic approach to win the battle and continuing to live a healthy life with great diet changes and consistent excercise.. I am a stage IV gliosarcoma survivor who went down all the paths recommended after resection with 6 weeks of radiation and temodar followed with the 5 days high dosages of temodar and 23 days off.. 15 months ago I made decisions about how to extend my life without chemotherapy as the constant two weeks of becoming lethargic and sick while taking the high dosage then working back to feeling better to get to start the process all over again. To truthfully answer your question the side effects were doable with temodar especially the first 6 weeks doing it daily, going to the 5 day monthly pattern showed me how great I started to feel before the next 5 day schedule. This didnt fit my life trying as at times it took all I had to bring the needed energy to coach and build my ...
6. Evaluation of 1p and 14q status, MIB-1 labelling index and progesterone receptor immunoexpression in meningiomas - adjuncts to histopathological grading and predictors of aggressive behavior ...
The stock of South Financial Group Inc. fell sharply Wednesday, after the Greenville, S.C., company reported a $340.8 million third-quarter loss because of loan trouble.
Pbx3兔多克隆抗体(ab56239)可与人样本反应并经WB, IHC实验严格验证,被1篇文献引用并得到1个独立的用户反馈。所有产品均提供质保服务,中国75%以上现货。
Combined loss is associated with better prognosis and improved response to both radiation and chemotherapy and is often used clinically for treatment decisionmaking [38, 39]. More rarely, isolated loss of chromosome 1p or 19q is observed in oligodendroglioma, although these isolated losses are less prognostic than combined loss. Indeed, isolated loss of 19q is much more common in astrocytic tumors. Oligodendroglial tumors also demonstrate a high frequency of increased expression of both EGFR and PDGF/PDGFR and high rates of methylation of several genes including p14, RB1, CDKN2A/CDKN2B, and MGMT. 2003;106 3:423-8. 93. Wiemels JL, Wiencke JK, Kelsey KT, Moghadassi M, Rice T, Urayama KY, et al. Allergyrelated polymorphisms influence glioma status and serum IgE levels. Cancer Epidemiol Biomarkers Prev. 2007 Jun;16 6:1229-35. 94. Wiemels JL, Wiencke JK, Patoka J, Moghadassi M, Chew T, McMillan A, et al. Reduced immunoglobulin E and allergy among adults with glioma compared with controls. Cancer Res. ...
Glioma is a general term for a group of tumours that start in the supportive tissues (glial cells) of the brain or spinal cord. They are the most common type of primary brain tumours in adults and account for about 70% of all malignant (high-grade) tumours of the central nervous system (CNS).
Saab, A. S.; Tzvetavona, I. D.; Trevisiol, A.; Baltan, S.; Dibaj, P.; K, K.; Möbius, W.; Goetze, B.; Jahn, H. M.; Huang, W. et al.; Steffens, H.; Schoburg, E. D.; Pérez-Samartín, A.; Pérez-Cerdá, F.; Bakhtiari, D.; Matute, C.; Löwel, S.; Griesinger, C.; Hirrlinger, J.; Kirchhoff, F.; Nave, K. A.: Oligodendroglial NMDA receptors regulate glucose import and axonal energy metabolism. Neuron 91 (1), S. 119 - 132 (2016 ...
The present study clearly showed that the mean SUV T/N ratio obtained with 11C-methionine PET was significantly higher in OT without 1p/19q deletion than in those with this chromosomal aberration. The T/N ratio cut-off values of 2.54 for grade II tumours and 3.63 for grade III tumours will be important in daily clinical practice, in combination with other imaging modalities to predict tumour grade. In tumours categorised as the same histological type and grade, the T/N ratio was significantly different according to the presence or absence of this genetic alteration. Generally, 1p/19q deletion is found in 60-90% of OT,3 and the presence of these deletions is correlated with good chemosensitivity and longer survival, especially in grade III tumours.10 Although it is reported that 1p/19q deletion is exclusively associated with p53 overexpression or unmethylated MGMT,8 ,9 few biological features are linked to this chromosomal aberration. The lower rate of IDH1 mutation in anaplastic OT without ...
Phase 2 trial to explore the efficacy and safety of irinotecan (CPT-11) in patients with recurrent anaplastic astrocytomas (AA), mixed malignant glioma, and oligodendrogliomas (OA). Patients were to be stratified by tumor histology and treated with CPT-11 every 21 days (treatment cycle).. Baseline data (collected ,14 days) was to consist of a neurological/oncological history, neurological examination, height, weight, performance status, Quality Of Life FACT-L questionnaire, laboratory studies to include complete blood count (CBC), differential, platelets, prothrombin time (PT), complete metabolic panel (CMP), Lactose dehydrogenase (LDH), and a pregnancy test, as well as a cranial Computerized Tomography/Magnetic Resonance Imaging (CT/MRI) with and without contrast (to measure or evaluate the size and location of the tumor before treatment).. Administered every 21 days was a dose of irinotecan (CPT-11), zofran/Kytril/Anzemet, decadron, and intravenous (IV) atropine. At each cycle, patient exams ...
The goal of this work was to demonstrate prospectively that maximal surgical resection of low grade oligodendrogliomas without adjuvant therapy does not reduce life expectancy over that of historical controls. All patients with surgically accessible grade II oligodendrogliomas underwent maximal resection using stereotactic guidance and/or cortical mapping and were followed with serial MRI scans without adjuvant therapy until either progression or spread into brain regions deemed not surgically resectable. Nineteen patients were treated between 1993 and 2006. Ten patients required reoperation an average of 55 months after their first surgery. Nine patients progressed to anaplastic tumors an average of 42 months after their first surgery: six patients died from their tumors an average of 73 months after diagnosis, two are still alive 76 and 18 months after progression, and one was lost to follow up. Ten patients are alive and progression-free an average of 116 months after diagnosis, one of whom was lost
Diffuse low-grade gliomas (LGG) represent a subtype of slow-growing, infiltrative brain tumors that includes grade 2 astrocytomas, oligodendrogliomas, and oligoastrocytomas. However, the optimal treatment strategy for these tumors is controversial and has not been evaluated in controlled studies; early surgical resection may offer some survival benefit but is generally not curative and carries risk of neurologic damage, supporting diagnostic biopsy followed by watchful waiting for malignant tumor progression as a potential alternative therapeutic strategy. To assess whether early resection conferred a survival benefit over the watchful waiting approach, Jakola and colleagues performed a comparative, retrospective population-based analysis of 153 patients with diffuse LGG at 2 Norwegian hospitals. These neurosurgical centers exclusively treated patients within their geographic regions but favored opposing treatment strategies, with one hospital preferring the biopsy and watchful waiting approach ...
On a per-share basis, the Frederick, Maryland-based company said it had a loss of 9 cents. The results surpassed Wall Street expectations. The average estimate of seven analysts surveyed by Zacks Investment ...

Longer leukocyte telomere length is associated with smaller hippocampal volume among non-demented APOE ε3/ε3 subjectsLonger leukocyte telomere length is associated with smaller hippocampal volume among non-demented APOE ε3/ε3 subjects

... in humans spanning over the last 2 to 15 kilobase pairs of the chromosome. Due to the end-replication problem, telomeres ... Telomeres are the outermost parts of linear chromosomes. They consist of tandemly repeated non-coding short nucleotide ... Available from: 2012-04-19 Created: 2012-04-19 Last updated: 2017-12-07Bibliographically approved In thesis. 1. Telomeres and ...
more infohttp://umu.diva-portal.org/smash/record.jsf?pid=diva2:516681

View source for Sex-determination system - wikidocView source for Sex-determination system - wikidoc

... is male with one sex chromosome (X0); with a pair of chromosomes (XX) it is a [[hermaphrodite]]. === ZW sex chromosomes === {{ ... chromosome]] (XX), while males have two distinct sex chromosomes (XY). Some species (including humans) have a gene [[SRY]] on ... For humans: ** [[Sex determination and differentiation (human),Human sex determination and differentiation]] ** [[Sex organ]], ... chromosome_as_a_battle_ground_.htm The Y chromosome as a battleground for sexual selection] ==References== {{reflist,2}} * ( ...
more infohttp://wikidoc.org/index.php?title=Sex-determination_system&action=edit

Molecular shifts in sex determination | Biology LettersMolecular shifts in sex determination | Biology Letters

2010 Non-homologous sex chromosomes of birds and snakes share repetitive sequences. Chromosome Res. 18, 787-800. (doi:10.1007/ ... 1990 A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346 ... Among 34 non-avian reptiles, a convergently evolved pair of amino acids encoded by sequence within exon 2 near the DM-binding ... Staurotypus triporcatus, a turtle with XY sex chromosomes homologous to chicken ZW sex chromosomes [29], exhibits an S54-S57 ...
more infohttp://rsbl.royalsocietypublishing.org/content/10/12/20140809

Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.

Chromosomes, Human, Pair 19*. DNA / genetics, isolation & purification. Female. Genes, Dominant. Haplotypes. Humans. Male. ... two stretches of the affected chromosome had been exchanged with that region of the wild-type chromosome.. ...
more infohttp://www.biomedsearch.com/nih/Reduction-in-size-myotonic-dystrophy/8094260.html

Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos.Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos.

... gene located in chromosome region 19q13.3. Unaffected individuals carry alleles with r ... Chromosome Mapping. Chromosomes, Human, Pair 19. Embryo, Mammalian / metabolism. Fathers. Female. Fertilization. Fertilization ... Humans. Male. Mothers. Mutation*. Myotonic Dystrophy / genetics*. Protein-Serine-Threonine Kinases / genetics. Repetitive ... Previous Document: Sex-specific, male-line transgenerational responses in humans.. Next Document: Abolishing Trp53-dependent ...
more infohttp://www.biomedsearch.com/nih/Transmission-ratio-distortion-in-myotonic/16391559.html

Alison Klein - Research Output
     - Johns Hopkins UniversityAlison Klein - Research Output - Johns Hopkins University

Chromosomes, Human, Pair 19 Inborn Genetic Diseases Core signaling pathways in human pancreatic cancers revealed by global ... Confirmation of linkage to ocular refraction on chromosome 22q and identification of a novel linkage region on 1q. Klein, A., ... EPHA2 is associated with age-related cortical cataract in mice and humans. Jun, G., Guo, H., Klein, B. E. K., Klein, R., Jie, J ... Environmental covariates: Effects on the power of sib-pair linkage methods. Mandal, D. M., Sorant, A. J. M., Pugh, E., Marcus, ...
more infohttps://jhu.pure.elsevier.com/en/persons/alison-klein/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle&ordering=type&descending=false

acinic cell tumor salivary gland 2005:2010  - BioMedLib™ search engineacinic cell tumor salivary gland 2005:2010 - BioMedLib™ search engine

Chromosomes, Human, Pair 11. Chromosomes, Human, Pair 19. Female. Humans. Immunohistochemistry. In Situ Hybridization, ... Human-caused Phenomenon or Process. B2.1.1. Environmental Effect of Humans. B2.2. Natural Phenomenon or Process. B2.2.1. ... Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / KRT5 protein, human; 0 / KRT7 protein, human; 0 / Keratin-5; 0 / Keratin-7 ... Humans Animals + Gender. And for: Male Female + Age. And for these age groups: Newborn: birth to 1 month. Infant: 1 to 23 ...
more infohttp://bmlsearch.com/?kwr=acinic%20cell%20tumor%20salivary%20gland%202005:2010

adult anaplastic oligoastrocytoma 2005:2010[pubdate] *count=100 - BioMedLib™ search engineadult anaplastic oligoastrocytoma 2005:2010[pubdate] *count=100 - BioMedLib™ search engine

Chromosome Aberrations. Chromosomes, Human, Pair 11 / genetics. Chromosomes, Human, Pair 7 / genetics. Chromosomes, Human, Pair ... Chromosome Deletion. Chromosomes, Human, Pair 1 / genetics. Chromosomes, Human, Pair 19 / genetics. Combined Modality Therapy. ... Chromosome Deletion. Chromosomes, Human, Pair 1. Chromosomes, Human, Pair 19. Female. Glial Fibrillary Acidic Protein / ... Chromosomes, Human, Pair 1. Chromosomes, Human, Pair 19. Dose Fractionation. Female. Humans. Lomustine / therapeutic use. Loss ...
more infohttp://www.bmlsearch.com/?kwr=adult+anaplastic+oligoastrocytoma+2005:2010%5Bpubdate%5D&cxts=100&stmp=b0

astrocytoma adult infiltrating 2005:2010[pubdate] *count=100 - BioMedLib™ search engineastrocytoma adult infiltrating 2005:2010[pubdate] *count=100 - BioMedLib™ search engine

Chromosome Mapping. Chromosomes, Human, Pair 10 / genetics. Chromosomes, Human, Pair 7 / genetics. Disease Progression. ... Chromosomes, Human, Pair 1 / genetics. Chromosomes, Human, Pair 19 / genetics. DNA Mutational Analysis. Female. Histidine / ... Human-caused Phenomenon or Process. B2.1.1. Environmental Effect of Humans. B2.2. Natural Phenomenon or Process. B2.2.1. ... RESULTS: The population of tumor cells with polysomy of chromosome 7 and the EGFR locus and monosomy of chromosome 10 and the ...
more infohttp://www.bmlsearch.com/?kwr=astrocytoma+adult+infiltrating+2005:2010%5Bpubdate%5D&cxts=100&stmp=b0

Model for dual relationship between Alu elements and mi | Open-iModel for dual relationship between Alu elements and mi | Open-i

Chromosomes, Human, Pair 19/genetics. *DNA, Antisense/genetics. *Gene Duplication. *Humans. *Long Interspersed Nucleotide ... Base-pair complementarity could be demonstrated between the seed sequence of a subset of human microRNAs and Alu repeats that ... Base-pair complementarity could be demonstrated between the seed sequence of a subset of human microRNAs and Alu repeats that ... Health and Human Services • 8600 Rockville Pike,Bethesda,MD 20894 Privacy • Accessibility • Freedom of Information Act • ...
more infohttps://openi.nlm.nih.gov/detailedresult.php?img=PMC2637760_pone.0004456.g006&req=4

Region-specific loss of heterozygosity on chromosome 19 is related to the morphologic type of human glioma<...Region-specific loss of heterozygosity on chromosome 19 is related to the morphologic type of human glioma<...

In: Genes Chromosomes and Cancer, Vol. 12, No. 4, 1995, p. 277-282.. Research output: Contribution to journal › Article ... Allelic mutation on chromosome 19 has previously been reported as a frequent genetic event in human glial tumors. In an effort ... Ritland, S. R., Ganju, V., & Jenkins, R. B. (1995). Region-specific loss of heterozygosity on chromosome 19 is related to the ... Region-specific loss of heterozygosity on chromosome 19 is related to the morphologic type of human glioma. / Ritland, S. R.; ...
more infohttps://mayoclinic.pure.elsevier.com/en/publications/region-specific-loss-of-heterozygosity-on-chromosome-19-is-relate

HKU Scholars Hub: EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third...HKU Scholars Hub: EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third...

Chromosomes, Human, Pair 19. en_HK. dc.subject.mesh. DNA-Binding Proteins - genetics. en_HK. ... chromosome+19p13+that+fuses+to+MLL+in+human+leukemia. en_HK. ... gene located on chromosome 19p13 that fuses to MLL in human ... of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human ... of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human ...
more infohttp://hub.hku.hk/handle/10722/48975

Linkage Mapping of the Human Thromboxane A2 Receptor (TBXA2R) to Chromosome 19p13.3 Using Transcribed 3′ Untranslated DNA...Linkage Mapping of the Human Thromboxane A2 Receptor (TBXA2R) to Chromosome 19p13.3 Using Transcribed 3′ Untranslated DNA...

T1 - Linkage Mapping of the Human Thromboxane A2 Receptor (TBXA2R) to Chromosome 19p13.3 Using Transcribed 3′ Untranslated DNA ... Linkage Mapping of the Human Thromboxane A2 Receptor (TBXA2R) to Chromosome 19p13.3 Using Transcribed 3′ Untranslated DNA ... Linkage Mapping of the Human Thromboxane A2 Receptor (TBXA2R) to Chromosome 19p13.3 Using Transcribed 3′ Untranslated DNA ... Linkage Mapping of the Human Thromboxane A2 Receptor (TBXA2R) to Chromosome 19p13.3 Using Transcribed 3′ Untranslated DNA ...
more infohttps://jhu.pure.elsevier.com/en/publications/linkage-mapping-of-the-human-thromboxane-a2-receptor-tbxa2r-to-ch-3

Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19<...Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19<...

Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19. Cytogenetics and Cell Genetics ... Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19. / Brown, S.; Oie, H.; Francke ... title = "Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19", ... T1 - Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19 ...
more infohttps://utsouthwestern.pure.elsevier.com/en/publications/assignment-of-a-gene-required-for-infection-with-endogenous-baboo

Mapping genetic markers on human chromosome 19 subchromosomal fragments in somatic cell hybrids<...Mapping genetic markers on human chromosome 19 subchromosomal fragments in somatic cell hybrids<...

All appear to contain different numbers of human chromosome fragments. A series of X-chromosome-specific DNA sequences ... All appear to contain different numbers of human chromosome fragments. A series of X-chromosome-specific DNA sequences ... All appear to contain different numbers of human chromosome fragments. A series of X-chromosome-specific DNA sequences ... All appear to contain different numbers of human chromosome fragments. A series of X-chromosome-specific DNA sequences ...
more infohttps://augusta.pure.elsevier.com/en/publications/mapping-genetic-markers-on-human-chromosome-19-subchromosomal-fra

Polysomy of chromosomes 1 and/or 19 is common and associated with less favorable clinical outcome in oligodendrogliomas:...Polysomy of chromosomes 1 and/or 19 is common and associated with less favorable clinical outcome in oligodendrogliomas:...

Chromosomes, Human, Pair 19 Oligodendroglioma Chromosomes, Human, Pair 1 Fluorescence In Situ Hybridization ... Of 84 cases, 36 (43%) showed polysomy of chromosome 1, 30 (36%) demonstrated polysomy of chromosome 19, and 28 (33%) had ... Of 84 cases, 36 (43%) showed polysomy of chromosome 1, 30 (36%) demonstrated polysomy of chromosome 19, and 28 (33%) had ... Of 84 cases, 36 (43%) showed polysomy of chromosome 1, 30 (36%) demonstrated polysomy of chromosome 19, and 28 (33%) had ...
more infohttps://indiana.pure.elsevier.com/en/publications/polysomy-of-chromosomes-1-andor-19-is-common-and-associated-with-

Find publikationer
             - Syddansk UniversitetFind publikationer - Syddansk Universitet

Chromosomes, Human, Pair 19 29 Downloads (Pure) Epigenetic changes in myelofibrosis: Distinct methylation changes in the ... 2018, I : HemaSphere. 2, S1, s. 18-19 S131.. Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning ...
more infohttps://portal.findresearcher.sdu.dk/da/publications/?showAdvanced=false&allConcepts=true&inferConcepts=true&publicationYear=2016&publicationYear=2017&publicationYear=2018&publicationYear=2019&publicationYear=2020&author=428f2151-f2aa-4a5e-bdee-4184c0586467&format=&ordering=type&descending=false

GENETIC ANALYSIS OF HUMAN GLIOMAS
     - Augusta University Research ProfilesGENETIC ANALYSIS OF HUMAN GLIOMAS - Augusta University Research Profiles

The principal investigator will now use the same strategy to isolate a BAC clone, which crosses the chromosome 19 breakpoint. ... Using FISH analysis this lab has positioned YAC clones across the breakpoints on both chromosomes of the 10;19 reciprocal ... DESCRIPTION: Gliomas are the most common primary human brain tumors. Even despite aggressive therapeutic treatments the most ... An important mechanism resulting in gene inactivation is through chromosome translocations, which disrupt the genes at the ...
more infohttps://augusta.pure.elsevier.com/en/projects/genetic-analysis-of-human-gliomas

Association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimers disease<...Association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimer's disease<...

The region surrounding APOE on chromosome 19 has also shown consistent association with LOAD. However, no common variants in ... The region surrounding APOE on chromosome 19 has also shown consistent association with LOAD. However, no common variants in ... The region surrounding APOE on chromosome 19 has also shown consistent association with LOAD. However, no common variants in ... The region surrounding APOE on chromosome 19 has also shown consistent association with LOAD. However, no common variants in ...
more infohttps://mayoclinic.pure.elsevier.com/en/publications/association-analysis-of-rare-variants-near-the-apoe-region-with-c

Find Research Outputs
             - Kyushu UniversityFind Research Outputs - Kyushu University

Adeno-associated virus Rep-mediated targeting of integrase-defective retroviral vector DNA circles into human chromosome 19. ... Loss of chemokine SDF-1α-mediated CXCR4 signalling and receptor internalization in human hepatoma cell line HepG2. Mitra, P., ... Hexagonal surface layer of Campylobacter fetus isolated from humans. Fujimoto, S., Umeda, A., Takade, A., Murata, K. & Amako, K ... Epigenetic investigation of variably X chromosome inactivated genes in monozygotic female twins discordant for primary biliary ...
more infohttps://kyushu-u.pure.elsevier.com/en/publications/?amp%3BshowAdvanced=false&%3BallConcepts=true&%3BinferConcepts=true&%3BoriginalSearch=&%3BimprovedLayoutOrganisationUuid=&format=&page=11&ordering=lastNameFirstName&descending=true

Cell and Developmental Biology - Research Output
     - University of Illinois at Urbana-ChampaignCell and Developmental Biology - Research Output - University of Illinois at Urbana-Champaign

Report an abstracts of the third international workshop on human chromosome 19 mapping 1996.. Mohrenweiser, H., Olsen, A., ... Report of the third international workshop on human chromosome 19 mapping 1996. Mohrenweiser, H., Olsen, A., Archibald, A., ... Reproducible but dynamic positioning of DNA in chromosomes during mitosis. Dietzel, S. & Belmont, A. S., Aug 21 2001, In : ... Roles of progesterone receptor A and B isoforms during human endometrial decidualization. Kaya, H. S., Hantak, A. M., Stubbs, L ...
more infohttps://experts.illinois.edu/en/organisations/cell-and-developmental-biology/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle&ordering=title&descending=true&page=3

Chromosome 19 (human) - WikipediaChromosome 19 (human) - Wikipedia

Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test. 1 (2): 145-9. ... The following is a partial list of genes on human chromosome 19. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 19. Because researchers use different approaches to ... People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 million base pairs, the building ...
more infohttps://en.wikipedia.org/wiki/Chromosome_19_(human)

Search | IOVS | ARVO JournalsSearch | IOVS | ARVO Journals

TAGS: chromosomes, human, pair 19, electroretinography, mice, quantitative trait loci Invest. Ophthalmol. Vis. Sci.. 2008; 49(9 ... A 1 base-pair frameshift deletion in codon 893 of SLC24A1 causes Retinitis Pigmentosa ... Influence of a Quantitative Trait Locus on Mouse Chromosome 19 to the Light-Adapted Electroretinogram PDF ...
more infohttps://iovs.arvojournals.org/solr/searchresults.aspx?author=Jane+G+Farrar

Association of Cell-Free DNA Tumor Fraction and Somatic Copy Number Alterations With Survival in Metastatic Triple-Negative...Association of Cell-Free DNA Tumor Fraction and Somatic Copy Number Alterations With Survival in Metastatic Triple-Negative...

Chromosomes, Human, Pair 18 Actions. * Search in PubMed * Search in MeSH * Add to Search ... B) Copy number plots of four representative pairs of metastatic biopsy (left panels) and cfDNA (right panels) with copy number ... Certain SCNAs were more frequent in metastatic TNBCs relative to paired primary tumors and primary TNBCs in publicly available ... Sensitivity and specificity of tumor biopsy somatic copy number alterations detected in cfDNA (n = 10 pairs) are indicated for ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=cluster&id=19374

Gendoo - Relevant featuresGendoo - Relevant features

Chromosomes, Human, Pair 19 ヒト第19染色体 NIH 3T3 Cells NIH-3T3細胞 ...
more infohttp://gendoo.dbcls.jp/cgi-bin/gendoo.cgi?geneid=1155&taxonomy=human
  • To determine the moment in development when transmission ratio distortion (TRD) for larger normal-size DMPK alleles is generated, the transmission from heterozygous parents with one repeat within the (CTG)(5-18) range (Group I repeat) and the other within the (CTG)(19-37) range (Group II repeat) to human preimplantation embryos was analysed. (biomedsearch.com)
  • These data indicate that two or more tumor suppressor genes may reside on chromosome 19, one on 19p important in the development of astrocytomas, and one on 19q important in oligodendrogliomas and MOA. (elsevier.com)
  • No microsatellite expansion was observed in these glial tumors for any of the chromosome 19 loci examined. (elsevier.com)
  • To investigate common chromosomal changes and the LOH frequency of microsatellite loci in primary gastric cancer samples in order to locate the deleted regions in which human gastric cancer related genes might exist. (hku.hk)
  • Analysis of the backcross mice for markers covering most of the mouse genome suggests that over 50% of the variance in renal disease is attributable to quantitative trait loci on mouse chromosomes 7 and 12. (elsevier.com)
  • Our analysis showed that Group II repeats specifically were preferentially transmitted in human preimplantation embryos. (biomedsearch.com)
  • Evidence for co-evolution between human microRNAs and Alu-repeats. (nih.gov)
  • This paper connects Alu repeats, the most abundant repetitive elements in the human genome and microRNAs, small RNAs that alter gene expression at the post-transcriptional level. (nih.gov)
  • Base-pair complementarity could be demonstrated between the seed sequence of a subset of human microRNAs and Alu repeats that are integrated parallel (sense) in mRNAs. (nih.gov)
  • Because a similar cluster is found in other primates , , which share Alu repeats with humans, it can be proposed that Alu expansion and growth of this cluster has occurred in parallel. (nih.gov)
  • In two previously described donors, the extracellular domain of LAIR1, a collagen-binding inhibitory receptor encoded on chromosome 19 (ref. 1), was inserted between the V and DJ segments of an antibody. (elsevier.com)
  • Through text mining, TMEM143 is shown to have interactions with seven different proteins in humans: Zinc finger protein 541 (ZNF541), DNA-damage inducible 1 homolog 2 (DD12), Paraneoplastic Ma antigen family-like 2 (PNMAL2), Kelch-like 31(JLHL31), Chromosome 14 open reading frame 28 (C14orf28), Chromosome 14 open reading frame 28 (TRIN71), and Cytoplasmic polyadenylation element binding protein 2 (CPEB). (wikipedia.org)
  • While TMEM143 is not directly referred to in research in this area, it is present in this region on the chromosome, indicating a potential functional role in humans. (wikipedia.org)
  • Haplotype data of six polymorphic markers in the DM gene region indicate that, in this latter case, two stretches of the affected chromosome had been exchanged with that region of the wild-type chromosome. (biomedsearch.com)
  • The region surrounding APOE on chromosome 19 has also shown consistent association with LOAD. (elsevier.com)
  • We conclude that polysomy of 1 and/or 19 is a relatively frequent occurrence in oligodendrogliomas and usually confers an unfavorable outcome. (elsevier.com)
  • Multipoint linkage analysis places TBXA2R between the markers D19S120 and PMS207 on the telomeric end of chromosome 19p13.3. (elsevier.com)
  • Manhattan plots for 317,759 single-SNP tests of association in joint analysis with age at menarche ( a ) and age at natural menopause ( b ) by SNP position along chromosome. (cdc.gov)
  • A primate-specific gene cluster on chromosome 19 encodes the majority of miRNAs that target the most conserved sense Alu site. (nih.gov)
  • The lpr gene was found to be closely linked to a mouse chromosome 19 marker defined by a variation of a Fas gene restriction fragment. (elsevier.com)
  • TMEM143, a dual-pass protein (two transmembrane domains), is predicted to reside in the mitochondria and high expression has been found in both human skeletal muscle and the heart. (wikipedia.org)
  • High expression has been found in the heart and skeletal muscle, as indicated through human expression profiling. (wikipedia.org)