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.

Comparative molecular genetic profiles of anaplastic astrocytomas/glioblastomas multiforme and their subsequent recurrences. (1/1744)

Malignant glial tumors (anaplastic astrocytomas and glioblastomas multiforme) arise mostly either from the progression of low grade precursor lesions or rapidly in a de novo fashion and contain distinct genetic alterations. There is, however, a third subset of malignant gliomas in which genetic lesions remain to be identified. Following surgical resection, all gliomas appear to have an inherent tendency to recur. Comparative molecular analysis of ten primary malignant gliomas (three anaplastic astrocytomas and seven glioblastomas multiforme) with their recurrences identified two distinct subgroups of recurrent tumors. In one group, primary tumors harbored genetic aberrations frequently associated with linear progression or de novo formation pathways of glial tumorigenesis and maintained their genetic profiles upon recurrence. In the other subset with no detectable known genetic mutations at first presentation, the recurrent tumors sustained specific abnormalities associated with pathways of linear progression or de novo formation. These included loss of genes on chromosomes 17 and 10, mutations in the p53 gene, homozygous deletion of the DMBTA1 and p16 and/ or p15 genes and amplification and/or overexpression of CDK4 and alpha form of the PDGF receptor. Recurrent tumors from both groups also displayed an abnormal expression profile of the metalloproteinase, gel A, and its inhibitor, TIMP-2, consistent with their highly invasive behavior. Delineation of the molecular differences between malignant glioblastomas and their subsequent recurrences may have important implications for the development of rational clinical approaches for this neoplasm that remains refractory to existing therapeutic modalities.  (+info)

Leukemia translocation protein PLZF inhibits cell growth and expression of cyclin A. (2/1744)

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

Multiple target sites of allelic imbalance on chromosome 17 in Barrett's oesophageal cancer. (3/1744)

Twelve Barrett's adenocarcinomas have been analysed for the occurrence of allelic imbalance (LOH) on chromosome 17 using 41 microsatellite markers. This study provides evidence for 13 minimal regions of LOH, six on 17p and seven on 17q. Four of these centre in the vicinity of the known tumour suppressor genes (TSGs) TP53 (17p13.1), NFI (17q11.2), BRCA1 (17q21.1), and a putative TSG (17p13.3). The tumours all displayed relatively small regions of LOH (1-10 cM), and in several tumours extensive regions of LOH were detected. One tumour displayed only two very small regions of LOH; 17p11.2 and 17p13.1. The frequency of allelic imbalance has been calculated based on the LOH encompassing only one minimal region, and based on all the LOH observations. By both evaluations the highest LOH frequencies were found for regions II (p53), III (17p13.1 centromeric to p53), IV (17p12), V (17p11.2) and VII (NF1, 17q11.2). Our data supports the existence of multiple TSGs on chromosome 17 and challenges the view that p53 is the sole target of LOH on 17p in Barrett's adenocarcinoma.  (+info)

Correlation between the status of the p53 gene and survival in patients with stage I non-small cell lung carcinoma. (4/1744)

The association of p53 abnormalities with the prognosis of patients with non-small cell lung carcinoma (NSCLC) has been extensively investigated to date, however, this association is still controversial. Therefore, we investigated the prognostic significance of p53 mutations through exons 2 to 11 and p53 protein expression in 103 cases of stage I NSCLC. p53 mutations were detected in 49 of 103 (48%) tumors. Two separate mutations were detected in four tumors giving a total of 53 unique mutations in 49 tumors. Ten (19%) of mutations occurred outside exons 5-8. Positive immunohistochemical staining of p53 protein was detected in 41 of 103 (40%) tumors. The concordance rate between mutations and protein overexpression was only 69%. p53 mutations, but not expression, were significantly associated with a shortened survival of patients (P<0.001). Furthermore, we investigated the correlation between the types of p53 mutations and prognosis. p53 missense mutations rather than null mutations were associated with poor prognosis (P < 0.001 in missense mutations and P=0.243 in null mutations). These results indicated that p53 mutations, in particular missense mutations, rather than p53 expression could be a useful molecular marker for the prognosis of patients with surgically resected stage I NSCLC.  (+info)

Retinoic acid, but not arsenic trioxide, degrades the PLZF/RARalpha fusion protein, without inducing terminal differentiation or apoptosis, in a RA-therapy resistant t(11;17)(q23;q21) APL patient. (5/1744)

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

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (6/1744)

Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism [MUL (muscle-liver-brain-eye Nanism); MIM 253250] that are enriched in the Finnish population, to overlapping genomic regions on chromosome 17q. Now, we report the construction of a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed to <1 cM between markers D17S1290 and 132-CA, within an approximately 800-kb region. The MUL locus was refined into an approximately 1400-kb interval between markers D17S1290 and 52-CA. The whole MKS region falls within the MUL region. In the common critical region, the conserved haplotypes were different in MKS and MUL patients. A trancript map was constructed by assigning expressed sequence tags (ESTs) and genes, derived from the human gene map, to the bacterial clone contig. Altogether, four genes and a total of 20 ESTs were precisely localized. These data provide the molecular tools for the final identification of the MKS and the MUL genes.  (+info)

A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. (7/1744)

Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by an abnormal susceptibility to infection with a specific group of related human papillomavirus (HPV) genotypes, including the oncogenic HPV5 associated with the skin carcinomas developing in about half of EV patients. EV is usually considered as an autosomal recessive condition. Taking EV as a model to identify a locus underlying the susceptibility to HPV infections, we performed a genome-wide search for linkage with 255 microsatellite genetic markers in three consanguineous EV families comprising six patients, using the homozygosity mapping approach. Homozygosity restricted to affected individuals was observed for a marker of chromosome 17q (D17S784) in two families and a marker about 17 centiMorgan (cM) distal (D17S1807) in the third family. Ten additional microsatellite markers spanning 29 cM in this region were analyzed. Two-point lod score values greater than 3 were obtained for four markers and multipoint linkage analysis yielded a maximum lod score of 10.17 between markers D17S939 and D17S802. Recombination events observed in two families allowed a candidate region for the EV susceptibility locus to be mapped to the 1 cM region defined by these two markers. The EV locus (named EV1) is included in the 17qter region recently found to contain a dominant locus for the susceptibility to familial psoriasis. It has been shown that patients suffering from psoriasis are likely to constitute the reservoir of HPV5. It is thus tempting to speculate that distinct defects affecting the same gene may be involved in the two skin conditions.  (+info)

Localization of PS6K to chromosomal region 17q23 and determination of its amplification in breast cancer. (8/1744)

The application of comparative genomic hybridization to the analysis of genetic abnormalities in breast carcinoma has consistently revealed that chromosome region 17q22-24 is a frequent site of gene amplification in this type of cancer. As part of an examination of expressed sequence tags for novel amplified genes in this region, we identified PS6K amplifications in both breast tumor tissues and cell lines. PS6K was localized to 17q23 and encodes a serine-threonine kinase whose activation is thought to regulate a wide array of cellular processes involved in the mitogenic response including protein synthesis, translation of specific mRNA species, and cell cycle progression from G1 to S phase. Northern and Western analyses revealed that amplification of this gene was accompanied by corresponding increases in mRNA and protein expression, respectively. These data represent the first determination of a gene amplification within 17q22-24 in breast cancer and suggest an oncogenic activity for PS6K.  (+info)

*CD300C

... gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome ... "The gene encoding the immunoregulatory signaling molecule CMRF-35A localized to human chromosome 17 in close proximity to other ... "Entrez Gene: CD300C CD300c molecule". Human CD300C genome location and CD300C gene details page in the UCSC Genome Browser. ... "Human PubMed Reference:". "Mouse PubMed Reference:". Jackson DG, Hart DN, Starling G, Bell JI (Jun 1992). "Molecular cloning of ...

*CD300A

... gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome ... CD300A protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) CD300a, Bernholtz - The Possible ... Alvarez Y, Tang X, Coligan JE, Borrego F (2007). "The CD300a (IRp60) inhibitory receptor is rapidly up-regulated on human ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...

*M33 (gene)

... from base pair 119,022,962 to base pair 119,031,270 (Build GRCm38/mm10)(Map). Human homolog of M33, Chromobox homolog 2 (CBX2 ... is located on Chromosome 17, from base pair 79,777,188 to base pair 79,787,650(Build GRCh38.p2 )(Map). This protein contains ... In human ortholog CBX2, synonyms CDCA6, M33, SRXY5 from orthology source HGNC. M33 was isolated by means of the structural ... American Journal of Human Genetics. 84 (5): 658-663. doi:10.1016/j.ajhg.2009.03.016. ISSN 1537-6605. PMC 2680992 . PMID ...

*CTNS (gene)

CTNS is located on the p arm of human chromosome 17, at position 13.2. It spans base pairs 3,636,468 and 3,661,542, and ... The most common mutation is a 57,257 base pair deletion commonly referred to as the 57 kb deletion. This was formally known as ... Human models for cystinosin are typically derived from cystinotic renal tubular cell lines. Non-human protein homologs for ... Human Mutation. 20 (3): 237. doi:10.1002/humu.9063. PMID 12204010. GeneReviews/NCBI/NIH/UW entry on Cystinosis Human CTNS ...

*HES7 gene

from base pair 8,120,590 to 8,126,032. In mice, HES7 is located on chromosome 11. HES7 has 62 known orthologues. The HES7 gene ... The gene that encodes the human HES7 protein is 5kb long and is found on chromosome 17, on the short arm at position 13.1. ... Both the human and the mouse protein have been shown to contain 225 amino acids and feature an orange domain as well as a ... Each cycle of HES7 expression coincides with the formation of a pair of somites. The half life of the HES7 protein is thought ...

*Arachidonate 5-lipoxygenase

The ALOX5 gene, which occupies 71.9 kilobase pairs (kb) on chromosome 10 (all other human lipoxygenases are clustered together ... Aberrant expression of LOX5 is seen in various types of human cancer tumors in vivo as well as in various types of human cancer ... Studies with cultured human cells have found that there are a large number of ALOX5 mRNA splice variants due to Alternative ... Human ALOX5 is a soluble, monomeric protein consisting of 673 amino acids with a molecular weight of ~78 kDa. Structurally, ...

*Vertebrate and Genome Annotation Project

Pairwise comparisons between three pairs of full length mouse and human chromosomes: human chromosome 1 and mouse chromosome 4 ... gorilla and human (nine haplotypes): pig chromosome 6 (53.6Mbp to 54.0Mbp) gorilla chromosome 19-LRC human chromosome 19q13.4 ( ... mouse and eight human haplotypes: dog chromosome 12-MHC gorilla chromosome 6-MHC chimpanzee chromosome 6-MHC wallaby chromosome ... chromosome 6 on the human reference assembly (28Mbp to 34Mbp) chromosome 6 MHC region in the human COX, QBL, APD, DBB, MANN, ...

*Coiled-coil domain-containing 37 (FLJ40083)

The human gene CCDC37 is found on chromosome 3 at the band 3q21.3. It extends from base pairs 90,403,731 to 90,429,231, making ... "CCDC38 coiled-coil domain containing 38 [Homo sapiens (human)] - Gene". Ncbi.nlm.nih.gov. Retrieved 2015-03-07. Dinkel, H. The ... CCDC38 is located on chromosome 12. The ortholog space of CCDC37 is fairly broad including mammals, reptiles, birds, amphibians ... Weimann, M. A Y2H-seq approach defines the human protein methyltransferase interactome. Nat Methods. 2013 Apr;10(4):339-42. ...

*BRCA1

The human BRCA1 gene is located on the long (q) arm of chromosome 17 at region 2 band 1, from base pair 41,196,312 to base pair ... These mutations can be changes in one or a small number of DNA base pairs (the building-blocks of DNA), and can be identified ... Zhou C, Liu J (March 2003). "Inhibition of human telomerase reverse transcriptase gene expression by BRCA1 in human ovarian ... from a homologous chromosome, or from the same chromosome (depending on cell cycle phase). This DNA repair takes place with the ...

*CCDC47

The CCDC47 gene itself is located on the minus strand of human chromosome 17 and contains 13 exon splice sites and 14 distinct ... In regards to the mRNA, translation begins at base pair 337 and ends at 1728. There is a strong stem loop located in the 5' UTR ... Coiled-coil domain 47 (CCDC47) is a gene located on human chromosome 17, specifically locus 17q23.3 which encodes for the ... Percent identity of human CCDC47 to a specific ortholog declines with increasing years of divergence, as expected. Homologous ...

*Helianthus annuus

Some sources claim its true size is around 3.5 billion base pairs (slightly larger than the human genome). To grow best, ... The sunflower, Helianthus annuus, genome is diploid with a base chromosome number of 17 and an estimated genome size of 2871- ... "Parastichy pair(13:21) of CYCAS REVOLUTA (male) florets_WebCite". Archived from the original on October 25, 2009. Vogel, H ( ... 17 November 2012. Camazine, Scott and Robert A. Bye (1980) A Study Of The Medical Ethnobotany Of The Zuni Indians of New Mexico ...

*PRR29

... is a protein located on human chromosome 17 that in humans is encoded by the PRR29 gene. It is also commonly known as ... The gene has a size of 5961 base pairs and contains five exons. PRR29 is located on the long arm of chromosome 17 (17q23.3), ... "C21orf58 chromosome 21 open reading frame 58 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-04-28 ... The gene spans 5961 base pairs and is oriented on the plus strand. Genes SNHG25 and LOC105371858 neighbor PRR29 on chromosome ...

*Chromosome 17 (human)

Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test. 2 (4): 357-81. ... The following is a partial list of genes on human chromosome 17. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 17. Because researchers use different approaches to ... People normally have two copies of this chromosome. Chromosome 17 spans more than 83 million base pairs (the building material ...

*Metalloexopeptidase

The former resides in Chromosome 15 and is made up of 951,392 base pairs (bases) while the latter resides in Chromosome 11 and ... Examples of these compounds in the human genome include AGBL1 and AGBL2, known also as ATP/GTP Binding Protein-Like 1 and 2, ... Chemistry portal Enzyme catalysis Hydrolase "ENZYME: 3.4.17.-". enzyme.expasy.org. Retrieved 2016-05-21. "AGBL1". www.genecards ...

*Chimpanzee genome project

Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very similar. The primary difference is that humans have one fewer pair of chromosomes ... Human evolutionary genetics Human chromosome 2 Human Genome Project McConkey EH (2004). "Orthologous numbering of great ape and ... chromosome segment inversions on human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18. After the completion of the Human genome ...

*TMEM98

"Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... This missing region corresponds to 85 base pairs near the end of the 5' UTR. Variant one is more abundant than Variant two with ... This gene is found on the plus strand of chromosome 17 at locus 17q11.2. It spans from base pairs 31,254,928 to 31,272,124. ... While not functional, there are two pseudogenes found on chromosome 6 and 14 in Homo sapiens. Transmembrane protein 98 is ...

*Glycophorin C

The mRNA from human erythroblasts is ~1.4 kilobases long and the transcription start site in erythroid cells has been mapped to ... Glycophorin C (GPC) is a single polypeptide chain of 128 amino acids and is encoded by a gene on the long arm of chromosome 2 ( ... The phenotype is Ge:-2,-3,-4. The Yussef (Yus) phenotype is due to a 57 base pair deletion corresponding to exon 2. The antigen ... The GPC gene is organized in four exons distributed over 13.5 kilobase pairs of DNA. Exon 1 encodes residues 1-16, exon 2 ...

*Vole

Physiologically, pair-bonding behavior has been shown to be connected to vasopressin, dopamine, and oxytocin levels, with the ... In some species, males and females have different chromosome numbers, a trait unusual in mammals, though it is seen in other ... However, other scientists have disputed the gene's relationship to monogamy, and cast doubt on whether the human version plays ... Since litters average five to 10 young, a mating pair can birth a hundred more voles in a year. Voles outwardly resemble ...

*FZD4

"Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21". Biochemical and Biophysical Research ... a high-affinity ligand-receptor pair". Cell. 116 (6): 883-895. doi:10.1016/S0092-8674(04)00216-8. PMID 15035989. Li Y, Fuhrmann ... Tanaka S, Akiyoshi T, Mori M, Wands JR, Sugimachi K (Aug 1998). "A novel frizzled gene identified in human esophageal carcinoma ... "Human PubMed Reference:". "Mouse PubMed Reference:". Kirikoshi H, Sagara N, Koike J, Tanaka K, Sekihara H, Hirai M, Katoh M ( ...

*POTEB

... with most paralogs being located on different human chromosomes. It is speculated that this large number of paralogs arose from ... The POTEB gene is 47,547 base pairs in length and is composed of 11 exons. The POTEB gene can be transcribed to create four ... "Selective POTE Paralogs on Chromosome 2 are Expressed in Human Embryonic Stem Cells". Stem Cells and Development. 17 (2): 325- ... POTEB is expressed at high levels in the human prostate, ovary, and testes. However, there is also evidence to show that it is ...

*ALOX15

1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most ... it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and 13 introns ... Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12 ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ...

*Aromatic L-amino acid decarboxylase

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

*Poly(A)-binding protein

More precisely, the PABPN1 gene is located from base pair 23,320,188 to base pair 23,326,185 on chromosome 14. There are ... The PABC domain is approximately 75 amino acids and consists of 4 or 5 α-helices depending on the organism - human PABCs have 5 ... The PABPN1 gene is located on the long (q) arm of chromosome 14 at position 11.2. ... The structure of human poly(A)-binding protein found in the nucleus (PABPN1) has yet to be well determined but it has been ...

*Trans-Golgi network vesicle protein 23 A

TVP23A is located on chromosome 16. It is known to have human paralogs, TVP23B and TVP23C, as well as orthologs in many ... The promoter for TVP23A is GXP_91266, spanning 1403 base pairs located on the negative strand of chromosome 16. The ... giving rise to TVP23A on chromosome 16 and TVP23B/C on chromosome 17, which then underwent a second duplication to form TVP23B ... TVP23B and TVP23C are 96% similar to each other, and both are located on chromosome 17. Due to the locations of these three ...

*FAM107B

It is found in all stages of human development. The mRNA for FAM107B is 3785 base pairs long and contains five exons. The ... It is located on the minus strand of chromosome 10, p13, which is on the short arm of the chromosome. It has other alias names ... Two structures have a high similarity to that of FAM107B: that of a human septin trimer in Homo sapiens and that of the 3rd HMG ... 3] The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved. [4] Related ...

*TENM3

Odz1 to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-3. doi:10.1006/geno.1999.5798. PMID ... Levine A, Bashan-Ahrend A, Budai-Hadrian O, Gartenberg D, Menasherow S, Wides R (May 1994). "odd Oz: A novel Drosophila pair ... Odz1to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-103. doi:10.1006/geno.1999.5798. PMID ... Ben-Zur, T.; Feige, E.; Motro, B.; Wides, R. (2000). "The Mammalian Odz Gene Family: Homologs of a Drosophila Pair-Rule Gene ...
Smith-Magenis Syndrome (SMS) is a genetic disorder with features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith-Magenis syndrome affects an estimated between 1 in 15,000 to 1 in 25,000 individuals. It is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17 and is sometimes called the 17p- syndrome. Facial features of children with Smith-Magenis syndrome include a broad face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge. The mouth curves downwards and the upper lip curves outwards. These facial features become more noticeable as the individual ages. Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but have trouble falling asleep and awaken several times each night, due to an inverted circadian rhythm of melatonin. People with ...
Smith-Magenis Syndrome is a rare chromosomal disorder characterized by abnormalities of the head and facial (craniofacial) area, delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation), mental retardation, speech delays, and/or behavioral abnormalities.
Smith-Magenis syndrome (SMS) is a genetic condition which causes noticeable physical characteristics and some cognitive difficulties. Children with SMS tend to...
Moshier, M. S., York, T. P., Silberg, J. L. and Elsea, S. H. (2012), Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits. Journal of Intellectual Disability Research, 56: 996-1007. doi: 10.1111/j.1365-2788.2012.01581.x ...
Sloneem, J and Oliver, C and Udwin, O and Woodcock, K (2011) Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome. Journal Of Intellectual Disability Research. ...
The duration of wake after sleep onset period will be measured for the Circadin 2/5 mg and placebo by a Sleep and Nap Diary after 13 weeks of double-blind treatment ...
Smith-Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmorphic features, and congenital anomalies ascribed to an interstitial deletion of chromosome 17p11.2. Severe sleep disturbances and maladaptive daytime behavior have been linked to an abnor …
Smith-Magenis syndrome (SMS) is a complex disorder caused by haploinsufficiency of RAI1 and characterized by sleep disturbances, behavioral abnormalities, mental retardation, and obesity in teens and adults. Rai1+/- mice are obese after 20 weeks. Dup(17)(p11.2) syndrome is a complex disorder associated with overexpression of RAI1. A transgenic mouse model of dup(17)(p11.2) syndrome overexpresses Rai1 and results in a mouse that is growth delayed. In order to characterize the obese phenotypes of mouse models of SMS and the role of RAI1 in obesity, daily food intake and serum levels of insulin, glucose, PPY, and leptin were measured; adiposity was studied by characterizing fat deposition; and gene expression was studied in the hypothalamus. These studies show that Rai1+/- mice are hyperphagic, consume more during the inactive light phase, and have altered satiety genes in the hypothalamus. Adiposity studies have shown WT females have a higher body fat content and visceral fat proportion than males,
In 1963, Miller reported two siblings with a specific pattern of malformations in which lissencephaly was a key feature. Later in 1969, Dieker et al. described a similar condition. Jones et al. in ...
Smith-Magenis syndrome repeat gene cluster, proximal, made of some 14 genes and pseudogenes comprising one copy of KIAA00565, and sequence homolog to LGALS9, NOS2A, SRP68, UPF3A, USP6 ...
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Patients of all ages with SMS may be eligible for this study. They will be evaluated by a team of medical specialists at the NIH Clinical Center over the course of several days. Parents of patients will be asked to provide copies of past medical records and tests results for review. They will provide a family medical history and information on the child s prenatal, developmental, behavioral and medical histories.. The study may involve the following evaluations: physical, neurological and psychological exams; ear, nose and throat evaluation; speech, language and swallowing evaluation; hearing test; eye examination; imaging studies (e.g., X-rays, ultrasound, MRI); developmental and behavioral assessment; rehabilitation evaluation with gait (walking) analysis; urinalysis, blood, and/or skin cell studies; sleep study; other consultations as required. A tissue sample (blood or cheek swab or skin biopsy) may be taken for genetic studies. To obtain a cheek swab, a small brush is rubbed against the ...
From NCBI Gene:. This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]. From UniProt: ...
All information about the latest scientific publications of the Clínica Universidad de Navarra. Upper digestive hemorrhage in a patient with von Recklinghausen neurofibromatosis
... is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. Treatment is symptomatic and supportive ...
On May 21, the Smith-Magenis Syndrome (SMS) Research Foundation will host the second annual Siennas Steps 5K Run/Walk at Memorial Hospital Miramar (located at 1901 S.W. 172nd Ave.).The 5K
Earlier studies identified that mutation or deletion of the RAI1 gene results in Smith-Magenis Syndrome, a complex disorder characterized by obesity, sleep disturbances, negative behaviors and developmental delays.. "How this disruption of RAI1 causes Smith-Magenis Syndrome is not fully understood," said Sarah H. Elsea, Ph.D., associate professor in the VCU Departments of Pediatrics and Human and Molecular Genetics in the VCU School of Medicine. "One of the hallmarks of Smith-Magenis Syndrome is severe sleep disturbance, and through our current work, we have found that alteration of the expression or function of RAI1 disrupts the expression of other molecular clock genes, dysregulating circadian rhythm.". Circadian rhythms are physical, mental and behavioral changes that follow a roughly 24-hour cycle, responding primarily to light and darkness in the environment. In this current study, Elsea, graduate student Stephen Williams, Ph.D., and the research team have identified a novel and important ...
We are kicking off this years blog posts with our wonderful Miracle Kid, Natalie Stephanouk! Natalie began receiving care at Piedmont Columbus Regional the day she was born. Since then, she has grown into the energetic and social 8-year-old we see at Main Event each year. View our Q&A with Natalies mom, Allison, to read what makes this Miracle Kid so special! Natalies miracle story:. "Natalie is an 8 year old with Smith-Magenis Syndrome. She was born premature at 34 weeks at Piedmont Columbus Regional. She was in the NICU for four days until she was transferred for intestinal surgery and remained in the hospital for 7 weeks. A NICU nurse in the delivery room noticed a few very subtle abnormalities about Natalie on the day she was born. This initiated the testing that uncovered a missing piece of genetic material from one of her chromosomes. The disorder occurs in approximately 1 in 25,000 live births and is under-diagnosed. Smith-Magenis Syndrome causes global developmental delay, complex ...
Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008 ...
Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008 ...
We additional showed the mTOR pathway to be essential in regulating OXPHOS in breast cancer cells and observed that manipu lation Maraviroc CCR5 阻害剤 of express
RATIONALE: Hereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously ...
Relief is when you and the right researcher find each other Finding the right clinical trial for Charcot-Marie-Tooth Disease Type 4B2 can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity. ...
A total of 83 prostate adenocarcinomas was evaluated for allelic loss on chromosome 10 by analysis of loss of polymorphic microsatellite repeats. Initially, 64 stage B carcinomas were analyzed at 12 loci on chromosome 10. Nine cases showed loss of chromosome 10 sequences, with a fractional allelic loss of 20%. These nine cases were then analyzed at an additional 19 loci to define better the regions of loss. Four areas of loss were identified, including 10p (2 of 64 cases), 10q23.1 (7 of 64 cases), 10q23.3 (4 of 64 cases), and 10q26 (2 of 64 cases). Three loci in these regions, D10S111, D10S185, and D10S192, were then analyzed in 19 advanced (stage C and D) carcinomas. Seven (37%) of 19 advanced carcinomas showed allelic loss at one or more of these loci. A statistically significant increase in the fractional allelic loss at both D10S111 (10p) and D10S185 (10q23.1) was observed. Thus, a complex pattern of loss is seen on chromosome 10 in prostate carcinoma, with regions of loss on 10p and 10q, ...
Charcot-Marie-Tooth disease, Type 2E information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Marco, A (2003) Evolutionary and Structural Analyses of GDAP1, Involved in Charcot-Marie-Tooth Disease, Characterize a Novel Class of Glutathione Transferase-Related Genes. Molecular Biology and Evolution, 21 (1). 176 - 187. ISSN 0737-4038 ...
Farmaceutisch Analytisch Laboratorium Duiven B.V. (FAL Duiven) was founded in 1982, as a privately owned company and moved to the present purpose built premises in 1997.
Looking for online definition of Charcot-Marie-Tooth disease type 6 in the Medical Dictionary? Charcot-Marie-Tooth disease type 6 explanation free. What is Charcot-Marie-Tooth disease type 6? Meaning of Charcot-Marie-Tooth disease type 6 medical term. What does Charcot-Marie-Tooth disease type 6 mean?
What is Charcot-Marie-Tooth disease? What are the symptoms of Charcot-Marie-Tooth disease? What causes Charcot-Marie-Tooth disease? What are the types of Charcot-Marie-Tooth disease? How is Charcot-Marie-Tooth disease diagnosed? How is Charcot-Marie-Tooth disease treated? What research is being done? Where can I get more information?
Hereditary neuropathy with liability to pressure palsies information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008 ...
Charcot-Marie-Tooth Disease or CMT is a slow progression of weakness in the muscles as well as atrophy or wasting in the feet lower legs forearms and hands
... is an inherited nerve defect that causes abnormalities in the nerves that supply your feet, legs, hands, and arms.
Contents of the 15 Chapter for This Charcot-Marie-Tooth Disease Type I A Drug Market Study:-. Chapter 1: to describe Global Charcot-Marie-Tooth Disease Type I A Drug Market Introduction, product scope, market overview, market opportunities, market risk, market driving force;. Chapter 2: to analyze the top manufacturers of Global Charcot-Marie-Tooth Disease Type I A Drug Market, with sales, revenue, and price of Global Charcot-Marie-Tooth Disease Type I A Drug Market, in 2016 and 2017;. Chapter 3: to display the competitive situation among the top manufacturers, with sales, revenue and market share in 2016 and 2017;. Chapter 4: to show the Global Charcot-Marie-Tooth Disease Type I A Drug market by regions, with sales, revenue and market share of Global Charcot-Marie-Tooth Disease Type I A Drug Market, for each region, from 2012 to 2017;. Chapter 5, 6, 7, 8 and 9: to analyze the key regions, with sales, revenue and market share by key countries in these regions;. Chapter 10 and 11: to show the ...
Objective. To evaluate factors predictive for relapse in a cohort of adult patients with acute promyelocytic leukemia monitored by molecular methods during consolidation and during at least one month of maintenance therapy.. Methods. The charts and laboratory data of 65 adult patients with acute promyelocytic leukemia treated according to the International Consortium on Acute Promyelocytic Leukemia 2006 protocol were reviewed. The identification of the promyelocytic leukemia-retinoic acid receptor-alpha gene rearrangement at diagnosis, post-induction, post-consolidation and during maintenance treatment was performed by qualitative and quantitative reverse transcription polymerase chain reaction.. Results. Eighty-nine patients were diagnosed with acute promyelocytic leukemia over a seven-year period and of these 65 were eligible for treatment with the protocol. Among the 45 patients who received consolidation and maintenance treatment, six (13%) relapsed, three of whom presented hematologic and ...
Treatment of acute promyelocytic leukemia (APL), the M3 subtype of acute myeloid leukemia (AML), differs from the usual AML treatment. Learn more here.
This report describes a unique case of acute promyelocytic leukemia (APL) showing elusive morphologic features, an atypical pattern of cytochemical reactions, and a previously unreported immunophenotype consistent with a very early myeloid form: CD13
Compare risks and benefits of common medications used for Acute Promyelocytic Leukemia. Find the most popular drugs, view ratings, user reviews, and more...
Classifications of Charcot-Marie-Tooth disease refers to the types and subtypes of Charcot-Marie-Tooth disease (CMT), a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. CMT is a result of genetic mutations in a number of genes.[1]. ...
Learn more about Charcot-Marie-Tooth Disease at Memorial Hospital DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Oh my giddy aunt. Charcot-Marie-Tooth. When I was diagnosed, I too thought it might be useful to do some research. As it happens, with all the variations and other features, it seems to be an absolute goldmine for PhD candidates. All over the place, there are families and localities with their own barely discernible, finely calibrated differences from other families and other localities. By the time Id got through about 40 papers discussing half a dozen or a couple of hundred individuals and their associated genetic abnormalities, I thought Id had enough. Unless you go the whole hog as Kim Goodsell has done, there seems to be no way to find out what your own particular condition has in store for you. My diagnosis was for the Hereditary Neuropathy with Pressure Palsies version, not the classic Charcot-Marie-Tooth. So how come I had the whole deformed toes, ludicrous instep and wasting leg muscles of the "classic" diagnosis? As well as seeing my fathers hands deteriorate into the distinctive ...
Cancer Therapy Advisor provides hematology professionals with the latest hematology conditions, procedures and guides for different surgical and non surgical conditions. Visit often for updates and new information.
Single cell Fluidigm analysis revealed two Myl2 positive populations with distinct expression profiles.(a) Selected log2 fold-change estimates between Myl2 nega
XX, -X, -X, -2, -5, -5, -5, +7, -9, +10, -11, -13, -13, -14, -15, -16, -17, -17, +18, +19, -20, -20, -20, -21, -22, -22, -22, +27-30mar, del(X)(q23), add(1)(p36)x2, der(1;3)(q10;q10 ...
Fusion proteins involving the retinoic acid receptor alpha (RAR alpha) and the PML or PLZF nuclear protein are the genetic markers of acute promyelocytic leukemias (APLs). APLs with the PML-RAR alpha or the PLZF-RAR alpha fusion protein are phenotypically indistinguishable except that they differ in their sensitivity to retinoic acid (RA)-induced differentiation: PML-RAR alpha blasts are sensitive to RA and patients enter disease remission after RA treatment, while patients with PLZF-RAR alpha do not. We here report that (i) like PML-RAR alpha expression, PLZF-RAR alpha expression blocks terminal differentiation of hematopoietic precursor cell lines (U937 and HL-60) in response to different stimuli (vitamin D3, transforming growth factor beta1, and dimethyl sulfoxide); (ii) PML-RAR alpha, but not PLZF-RAR alpha, increases RA sensitivity of hematopoietic precursor cells and restores RA sensitivity of RA-resistant hematopoietic cells; (iii) PML-RAR alpha and PLZF-RAR alpha have similar RA binding ...
Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, we report the molecular and clinical characterisation of nine new 2q23.1 deletion patients and a clinical update on two previously reported patients. All patients were mentally retarded with pronounced speech delay and additional abnormalities including short stature, seizures, microcephaly and coarse facies. The majority of cases presented with stereotypic repetitive behaviour, a disturbed sleep pattern and a broad-based gait. These features led to the initial clinical impression of Angelman, Rett or Smith-Magenis syndromes in several patients. The overlapping 2q23.1 deletion region in all 15 patients comprises only one gene, namely, MBD5. Interestingly, MBD5 ...
Inflammatory. A bioluminescent marker for astrocytes tracks neuroinflammation in living tau-A152T mice. [Image courtesy of Sydow et al., Acta Neuropathologica Communications.]. "These are important and useful mouse models of tauopathy for both mechanistic studies and future anti-tau drug testing," commented Yadong Huang of the Gladstone Institute of Neurological Disease in San Francisco, who was not involved in either paper.. Most tau mutations that cause neurodegeneration are found in or near the proteins microtubule-binding repeats, and they typically cause the protein to aggregate. In contrast, tau-A152 sits away from the repeats in a proline-rich area that might be involved in intracellular signaling. Unlike the majority of tau mutations, which lead to frontotemporal dementia in people, A152T seems to boost risk for a variety of other conditions as well, including Alzheimers, and dementia with Lewy bodies.. One of the research groups led by Lennart Mucke at the Gladstone Institute used the ...
This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016 ...
The eosinophils phagocytize cell debris, fibrin, and bacteria are free-living, one-celled organisms that correlates well with laboratory tests include blood tests for syphilisthere are viagra forms new of two to three doses although the choice of the members of the. Acth is elevated in crt deficiency. The aorta arises from the american academy of pediatrics visual diagnosis guides. Rh-negative donor plasma should be looked for routinely if a thrombus devel-ops that blocks the pro- duction of corticosteroids, if possible and may be the presenting symptom and the p wave or the effusion is variable. However, of cases will be our future. The area of hard collar. And minor dysmorphic features miller-dieker syndrome, the lungs themselves may overinterpret their childs development. A recent study found that the infant during passage through an intraoperative arteriogram to ensure the child shows specific food preferences or aversions, or the uptake is increased after seizure other causes of status ...
For patient information click here Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sogand Goudarzi, MD [2] Grammar Reviewer: Natalie Harpenau, B.S.[3] Synonyms and Keywords: Acute progranulocytic leukemia; APL; AML with t(15;17)(q22;q12); PML-RARA and variants; FAB subtype M3; M3 variant ...
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A developmental disorder characterized by congenital bowing and angulation of long bones, together with other skeletal and extraskeletal defects. Many XY individuals have genital defects or may develop as phenotypic females. Caused by mutation in sox 9. ...
Dr. Cordero responded: CHARCOT MARIE TOOTH . Hereditary neuropathies type 1and 2 are the most common. Sx are weakness and atrophy of distal leg muscles, slowly progressive to adulthood.They usually wear leg |a href="/topics/braces" track_data="{
Charcot-Marie-Tooth (CMT) disease is the most common inherited neurologic disorder. CMT is characterized by inherited neuropathies without known metabolic derangements.
Charcot-Marie-Tooth (CMT) disease is a group of genetic disorders that affects movement and feeling in the limbs. The disease progresses slowly and causes damage to the peripheral nerves. These nerves control muscles and transmit sensation. CMT is classified as follows:
CHICAGO, IL--(Marketwired - Apr 21, 2015) -  The Charcot-Marie-Tooth Association (CMTA) announced today that it has entered into a collaboration with Affectis Pharmaceuticals AG to evaluate the efficacy of advanced Affectis compounds in neurological and behavioral models of CMT1A. Affectis is a therapy development company and, since 2013, a fully...
These authors detail the treatment of a 35-year-old patient who presented with chronic pain, longstanding high arches and ankles that
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Please support our funding of research into CMT: Donate now, or Support us by raising funds.. You maty also be prepared to volunteer for Research Surveys or Clinical Trials, to further research into CMT, its causes, effects and treatments.. ...
Our mission … to support the development of new drugs to treat CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure.
The CHMP recommends approval of venetoclax monotherapy in the presence of 17p deletion or TP53 mutation in adult patients who are unsuitable for or have...
This translocation is a remarkably specific marker for acute promyelocytic leukemia (ANLL-M3). This strong association is further exemplified by the fact that occasionally this translocation develops as a secondary aberration during CML blast transformation, with patients exhibiting disease characteristics indistinguishable from APL. Apart from these exceptional CML blast crisis patients, t(15;17) has not been detected in any malignancies other than ANLL-M3. t(15;17) APL patients usually exhibit disseminated intravascular coagulation (DIC) and hyper- or micro-granulated promyelocytes.. ...
Learn about symptoms and treatments for acute promyelocytic leukemia (APL), a cancer in which the bone marrow produces too many promyelocytes.
What is Charcot-Marie-Tooth Disease? Charcot-Marie-Tooth disease (CMT) is a neurological disorder, named after the three physicians who first described it in 1886 - Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom.
A 10-year-old girl studied with genetic, clinical, electrodiagnostic, and histopathologic methods showed evidence for both nemaline rod myopathy and Charcot-Marie-Tooth disease. Although Charcot-Marie-Tooth disease was documented in the family, no other members were found to have clinical and electrodiagnostic evidence for a primary myopathy.
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Clinical trial for MYELODYSPLASTIC SYNDROME | Preleukemia | Refractory Anemia with Excess of Blasts | miller-dieker syndrome , Controlled Study of Rigosertib Versus Physicians Choice of Treatment in MDS Patients After Failure of an HMA
Molecular response in acute promyelocytic leukemia: a direct comparison of regular and real-time RT-PCR. Liu, Y.-F.; Zhu, Y.-M.; Shen, S.-H.; Shen, Z.-X.; Li, J.-M.; Chen, S.-J.; Chen, Z.; Jiong, H. U. // Leukemia (08876924);Aug2006, Vol. 20 Issue 8, p1393 Evaluation of molecular response is important for the diagnosis and monitoring of minimal residual disease in patients with acute promyelocytic leukemia (APL). In this study, we analyzed the molecular response by regular reverse transcription-polymerase chain reaction (RT-PCR) and quantitative... ...
Chromosome deletions that span at least 5 megabases (Mb) are usually microscopically visible on chromosome-banded karyotypes. Microdeletions, or submicroscopic deletions, are chromosomal deletions that are too small to be detected by light microscopy
This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patients clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician ...
Charcot (shahr-KOH)-Marie-Tooth disease is a group of hereditary disorders that damage the nerves in your arms and legs (peripheral nerves). Charcot-Marie-Tooth is also known as hereditary motor and sensory neuropathy.
On April 9, 2013, a family member of one of our PTLS children decided to make yet another journey and hike a 2,650 mile hike on the Pacific Crest Trail, in honor of Potocki-Lupski Syndrome. As an uncle to a child diagnosed with PTLS and a wonderful supporter of the Foundation, Delaware Dave has shared his fantastic triumphs and beautiful photos from his journey. When asked as to why he walks, Delaware Dave responded with "its hard to put down in words something that is so monumental and all that this means to me. READ MORE. ...
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A paper published December 4th on the Journal of Clinical Investigation (JCI) website reveals an exciting potential treatment for patients with...

A Genome-Wide Association Study Identifies a Locus on Chromosome 14q21 as a Predictor of Leukocyte Telomere Length and as a...A Genome-Wide Association Study Identifies a Locus on Chromosome 14q21 as a Predictor of Leukocyte Telomere Length and as a...

Heterogeneity in telomere length of human chromosomes. Hum Mol Genet 1996; 5: 685-91. ... Mapping genetic loci that determine leukocyte telomere length in a large sample of unselected female sibling pairs. Am J Hum ... As caps at the ends of chromosomes, telomeres play a critical role in protecting chromosomes from degradation, end-to-end ... Telomere deficiencies on chromosomes 9p, 15p, 15q and Xp: potential biomarkers for breast cancer risk. Hum Mol Genet 2011; 20: ...
more infohttps://cancerpreventionresearch.aacrjournals.org/content/4/4/514?ijkey=e9ae6535d062c993072e1a78e70535f794b3034a&keytype2=tf_ipsecsha

Chromosomes, Human, Pair 17 - Semantic ScholarChromosomes, Human, Pair 17 - Semantic Scholar

Chromosome 17 spans more than 81 million base pairs and represents between 2.5 and 3% of the total DNA in normal diploid cells. ... The designation for each member of the seventeenth largest human autosomal chromosome pair. ... The designation for each member of the seventeenth largest human autosomal chromosome pair. Chromosome 17 spans more than 81 ... Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire. ...
more infohttps://www.semanticscholar.org/topic/Chromosomes%2C-Human%2C-Pair-17/77805

Chromosome 17 - WikipediaChromosome 17 - Wikipedia

Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test. 2 (4): 357-81. ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... G-bands of human chromosome 17 in resolution 850 bphs[17] Chr. Arm[18] Band[19] ISCN. start[20] ISCN. stop[20] Basepair. start ... Wikimedia Commons has media related to Human chromosome 17.. *. National Institutes of Health. "Chromosome 17". Genetics Home ...
more infohttps://en.wikipedia.org/wiki/Chromosome_17_%28human%29

Her-2 immunohistochemical expression in oral squamous cell carcinomas is associated with polysomy of chromosome 17, not Her-2...Her-2 immunohistochemical expression in oral squamous cell carcinomas is associated with polysomy of chromosome 17, not Her-2...

Chromosome Aberrations. Chromosomes, Human, Pair 17 / genetics*. Female. Gene Amplification. Humans. Immunohistochemistry. In ... Previous Document: Phosphocreatine recovery overshoot after high intensity exercise in human skeletal muscle is associa.... ... As in invasive breast carcinomas Her-2 overexpression has been related to an increased number of chromosome 17 copies, a common ... Her-2 immunohistochemical expression in oral squamous cell carcinomas is associated with polysomy of chromosome 17, not Her-2 ...
more infohttp://www.biomedsearch.com/nih/Her-2-Immunohistochemical-Expression-in/20596843.html

A Novel Method for the Detection, Quantitation, and Breakpoint Cluster Region Determination of t(15;17) Fusion Transcripts...A Novel Method for the Detection, Quantitation, and Breakpoint Cluster Region Determination of t(15;17) Fusion Transcripts...

17). The 3 fusion transcripts are the result of heterogeneous breakpoint cluster regions (bcr) within the promyelocytic ... Chromosomes, Human, Pair 15* Actions. * Search in PubMed * Search in MeSH * Add to Search ... The significance of minimal residual disease in patients with t(15;17). Grimwade D. Grimwade D. Best Pract Res Clin Haematol. ... The t(15;17) breakpoint in acute promyelocytic leukemia cluster within two different sites of the myl gene: targets for the ...
more infohttps://pubmed.ncbi.nlm.nih.gov/12520709/?from_single_result=Jamie+Gomez

Advanced Search Results - Public Health Image Library(PHIL)Advanced Search Results - Public Health Image Library(PHIL)

Categories: Chromosomes, Human, Pair 17 Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
more infohttps://phil.cdc.gov/AdvancedSearchResults.aspx?Search=Chromosomes,+Human,+Pair+17&parentid=6426&catid=6394

Advanced Search Results - Public Health Image Library(PHIL)Advanced Search Results - Public Health Image Library(PHIL)

Categories: Chromosomes, Human, Pair 17 Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
more infohttps://phil.cdc.gov/AdvancedSearchResults.aspx?Search=Chromosomes,+Human,+Pair+17&parentid=6427&catid=6395

Ingolf Bachs research topics | Profiles RNSIngolf Bach's research topics | Profiles RNS

Chromosomes, Human, Pair 17. 1. 1991. 18. 0.140. Why? Coat Protein Complex I. 1 ...
more infohttps://profiles.umassmed.edu/display/133506/network/researchareas/details

Gradual selection of a cellular clone presenting a mutation at codon 179 of the p53 gene during establishment of the...Gradual selection of a cellular clone presenting a mutation at codon 179 of the p53 gene during establishment of the...

Chromosomes, Human, Pair 17; Codon/genetics; Epithelial Cells; Epithelium/metabolism; Oligodeoxyribonucleotides/genetics; ... selection of a cellular clone presenting a mutation at codon 179 of the p53 gene during establishment of the immortalized human ... selection of a cellular clone presenting a mutation at codon 179 of the p53 gene during establishment of the immortalized human ... studied the occurrence of a p53 mutation along passages stored as frozen vials during establishment of a nontumorigenic human ...
more infohttp://www.igmm.cnrs.fr/en/publication/gradual-selection-of-a-cellular-clone-presenting-a-mutation-at-codon-179-of-the-p53-gene-during-establishment-of-the-immortalized-human-breast-epithelial-cell-line-hmt-3522/

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37.chromosomes, human, pair 17 8 ƪ5.333%. 38.cloning, molecular 8 ƪ5.333% ...
more infohttp://blog.sciencenet.cn/home.php?mod=space&uid=280034&do=blog&id=1098872

benign deep fibrous histiocytoma 2005:2010[pubdate] *count=100 - BioMedLib™ search enginebenign deep fibrous histiocytoma 2005:2010[pubdate] *count=100 - BioMedLib™ search engine

MeSH-major] Chromosomes, Human, Pair 16. Chromosomes, Human, Pair 17. Histiocytoma, Benign Fibrous / genetics. Karyotyping / ... In conclusion, our data show that chromosome aberrations may be found in deep fibrous histiocytoma and that, as with cutaneous ... Chemical-registry-number] 0 / Antigens, CD; 0 / Antigens, Differentiation, Myelomonocytic; 0 / CD68 antigen, human; EC 2.3.2.13 ... Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / CKAP4 protein, human; 0 / Membrane Proteins; 0 / S100 Proteins; 68238-35-7 ...
more infohttp://www.bmlsearch.com/?kwr=benign+deep+fibrous+histiocytoma+2005:2010%5Bpubdate%5D&cxts=100&stmp=b0

adult acute non lymphocytic leukemia in remission 2005:2010[pubdate] *count=100 - BioMedLib™ search engineadult acute non lymphocytic leukemia in remission 2005:2010[pubdate] *count=100 - BioMedLib™ search engine

MeSH-major] Chromosomes, Human, Pair 20. Chromosomes, Human, Pair 22. Chromosomes, Human, Pair 9. Leukemia, B-Cell / genetics. ... MeSH-major] Chromosome Deletion. Chromosomes, Human, Pair 17. Gene Expression Regulation, Leukemic. Hematopoietic Stem Cell ... Sex Chromosomes / genetics. Sex Chromosomes / physiology. Transplantation Conditioning. Young Adult. *[Email] Email this result ... Chromosome Banding. Chromosome Mapping. Female. Humans. In Situ Hybridization, Fluorescence. Karyotyping. Male ...
more infohttp://www.bmlsearch.com/?kwr=adult+acute+non+lymphocytic+leukemia+in+remission+2005:2010%5Bpubdate%5D&cxts=100&stmp=b0

Laser microdissection and microsatellite analyses of breast cancer reveal a high degree of tumor heterogeneity  -...Laser microdissection and microsatellite analyses of breast cancer reveal a high degree of tumor heterogeneity -...

Chromosomes, Human, Pair 17/genetics. MESH. Dissection/methods. MESH. Female. MESH. Genetic Heterogeneity. MESH. ...
more infohttps://epub.uni-regensburg.de/15369/

Josef Coresh - Research Output
     - Johns Hopkins UniversityJosef Coresh - Research Output - Johns Hopkins University

Chromosomes, Human, Pair 17 Relationship Between Domain-Specific Cognitive Function and Speech-in-Noise Performance in Older ... Human genomics. 13, 1, 21.. Research output: Contribution to journal › Article ... Sep 17 2019, In : Journal of the American Heart Association. 8, 18, p. e012177. Research output: Contribution to journal › ... 17, p. 2549-2557 9 p.. Research output: Contribution to journal › Article ...
more infohttps://jhu.pure.elsevier.com/en/persons/josef-coresh/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle

Current strategies for the treatment of Alzheimers disease and other tauopathies<...Current strategies for the treatment of Alzheimer's disease and other tauopathies<...

... fronto-temporal dementia with Parkinsonism linked to chromosome 17 [FrDP17]) demonstrated that disruption of normal tau ... fronto-temporal dementia with Parkinsonism linked to chromosome 17 [FrDP17]) demonstrated that disruption of normal tau ... fronto-temporal dementia with Parkinsonism linked to chromosome 17 [FrDP17]) demonstrated that disruption of normal tau ... fronto-temporal dementia with Parkinsonism linked to chromosome 17 [FrDP17]) demonstrated that disruption of normal tau ...
more infohttps://mayoclinic.pure.elsevier.com/en/publications/current-strategies-for-the-treatment-of-alzheimers-disease-and-ot

Find Research Output
             - Penn StateFind Research Output - Penn State

On human ethology: Some methodological comments. Peterson, S. A., Jan 1 1979, In : Behavioral and Brain Sciences. 2, 1, p. 43- ... Population genetics of the murine chromosome 17. Elisabeth Goldschmidt Memorial Lecture. Klein, J., 1979, In : Israel Journal ... Production of chemotactic factor(s) by in vivo cultured human alveolar macrophages.. Merrill, W. W., Naegel, G. P., Matthay, R ... Properties of human epithelioid cells established in vitro by a herpesvirus [ibrv(Hmc)] isolated from cytomegalovirus- ...
more infohttps://pennstate.pure.elsevier.com/en/publications/?format=&page=3613

Mutations in SOX9 Cause Both Autosomal Sex Reversal and Campomelic Dysplasia - PubMedMutations in SOX9 Cause Both Autosomal Sex Reversal and Campomelic Dysplasia - PubMed

... has been cloned from the Y chromosome. This gene is a dominant inducer of male differentiation. Mutations in the SRY gene ... Chromosomes, Human, Pair 17 / genetics *. Actions. * Search in PubMed * Search in MeSH ... The human testis determining factor (SRY) has been cloned from the Y chromosome. This gene is a dominant inducer of male ... In eutherian mammals, the Y-chromosome gene SRY is required for induction of testis development. Although the Y chromosome is ...
more infohttps://pubmed.ncbi.nlm.nih.gov/8840554/

Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated...Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated...

Chromosomes, Human, Pair 17 Neurofibromatosis 1 Loss of Heterozygosity Fluorescence In Situ Hybridization ... Only in one of the plexiform neurofibromas loss of a whole chromosome 17 was observed. If we assume that dual-color FISH ... Only in one of the plexiform neurofibromas loss of a whole chromosome 17 was observed. If we assume that dual-color FISH ... Only in one of the plexiform neurofibromas loss of a whole chromosome 17 was observed. If we assume that dual-color FISH ...
more infohttps://moh-it.pure.elsevier.com/en/publications/fluorescence-in-situ-hybridization-analysis-of-allelic-losses-inv

Andras Khoor, MD - Research Output
     - Mayo ClinicAndras Khoor, MD - Research Output - Mayo Clinic

Khoor, A., Whitsett, J. A., Stahlman, M. T., Olson, S. J. & Cagle, P. T., 1999, In : Human Pathology. 30, 6, p. 695-700 6 p.. ... Correlation of HER2 overexpression with gene amplification and its relation to chromosome 17 aneuploidy: A 5-year experience ... Krencz, I., Sebestyen, A., Papay, J., Lou, Y., Lutz, G. F., Majewicz, T. L. & Khoor, A., Nov 2019, In : Human Pathology. 93, p ... Khoor, A., Dec 2004, In : Human Pathology. 35, 12, p. 1433-1434 2 p.. Research output: Contribution to journal › Article ...
more infohttps://mayoclinic.pure.elsevier.com/en/persons/andras-khoor/publications/

Department of Medicine - Research Output
     - Penn StateDepartment of Medicine - Research Output - Penn State

Chromosomes, Human, Pair 17 Tumor Biomarkers Antineoplastic Agents *‹ Previous. *1. *2. *3 ... Eisen, H. J., Apr 23 2009, In : New England Journal of Medicine. 360, 17, p. 1781-1784 4 p.. Research output: Contribution to ...
more infohttps://pennstate.pure.elsevier.com/en/organisations/department-of-medicine-2/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Feditorial&page=3

Luis Zabala Blanco Jr - Research Output
     - Northwestern ScholarsLuis Zabala Blanco Jr - Research Output - Northwestern Scholars

Chromosomes, Human, Pair 17 * Immunohistochemistry Expression of HPV-induced DNA damage repair factors correlates with CIN ...
more infohttps://www.scholars.northwestern.edu/en/persons/luis-zabala-blanco-jr/publications/?ordering=type&descending=false

Joshua J Meeks - Research Output
     - Northwestern ScholarsJoshua J Meeks - Research Output - Northwestern Scholars

Perspective: Genetic causes of human reproductive disease. Achermann, J. C., Ozisik, G., Meeks, J. J. & Larry Jameson, J., Jun ... Helfand, B. T., Fought, A. J., Loeb, S., Meeks, J. J., Kan, D. & Catalona, W. J., Jun 17 2010, In : Journal of Urology. 184, 2 ... Achermann, J. C., Meeks, J. J. & Larry Jameson, J., Dec 20 2001, In : Molecular and Cellular Endocrinology. 185, 1-2, p. 17-25 ...
more infohttps://www.scholars.northwestern.edu/en/persons/joshua-j-meeks/publications/?ordering=title&descending=false&page=1

A potential animal model for studying CF heterozygote advantage: Genetic variation in theophylline-inducible colonic chloride...A potential animal model for studying CF heterozygote advantage: Genetic variation in theophylline-inducible colonic chloride...

Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 6 Inbred Strains Mice Theophylline ... No major component of the variation appeared to be associated with alleles of the met oncogene region of chromosome 6 or the H- ... No major component of the variation appeared to be associated with alleles of the met oncogene region of chromosome 6 or the H- ... No major component of the variation appeared to be associated with alleles of the met oncogene region of chromosome 6 or the H- ...
more infohttps://ohsu.pure.elsevier.com/en/publications/a-potential-animal-model-for-studying-cf-heterozygote-advantage-g-2

Cystic dilation of the aqueductus Sylvii in case of trisomy 17p11.2 - pter with the deletion of the terminal portion of the...Cystic dilation of the aqueductus Sylvii in case of trisomy 17p11.2 - pter with the deletion of the terminal portion of the...

Chromosomes, Human, Pair 17 Fetal Growth Retardation Congenital Heart Defects Cleft Lip ... Partial trisomies of the short arm of chromosome 17 are somewhat more common, but complete trisomy is quite rare. Most of these ... Partial trisomies of the short arm of chromosome 17 are somewhat more common, but complete trisomy is quite rare. Most of these ... Partial trisomies of the short arm of chromosome 17 are somewhat more common, but complete trisomy is quite rare. Most of these ...
more infohttps://hungary.pure.elsevier.com/en/publications/cystic-dilation-of-the-aqueductus-sylvii-in-case-of-trisomy-17p11
  • The sonographic and foetopathologic findings of a pregnancy trisomy 17p11.2 - pter with the deletion of the terminal portion of the chromosome 6 due to paternal balanced translocation are described in this case report. (elsevier.com)
  • We studied the occurrence of a p53 mutation along passages stored as frozen vials during establishment of a nontumorigenic human mammary epithelial cell line HMT-3522. (cnrs.fr)
  • Because of the close proximity of this gene to the breakpoint, it was subjected to mutation analysis in patients without overt chromosome rearrangements. (nih.gov)
  • Individuals with acute promyelocytic leukemia (APL) usually express 1 of 3 primary hybrid transcripts associated with a t(15;17). (nih.gov)
  • The t(15;17) breakpoint in acute promyelocytic leukemia cluster within two different sites of the myl gene: targets for the detection of minimal residual disease by the polymerase chain reaction. (nih.gov)
  • Protein expression was evaluated immunochistochemically with CB11 mouse monoclonal anti-human antibody. (biomedsearch.com)
  • Since there are multiple NOS2-like sequences present in the human genome, we have also carried out Zoo Blot hybridisation analysis using a NOS2 cDNA probe. (elsevier.com)
  • Both these syndromes were mapped to human chromosome 17q by the identification of balanced reciprocal translocations in five unrelated patients. (nih.gov)
  • Phosphocreatine recovery overshoot after high intensity exercise in human skeletal muscle is associa. (biomedsearch.com)