Chromosomes human 4 5. Medical search

In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)

Any method used for determining the location of and relative distances between genes on a chromosome.

Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.

The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.

Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.

The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)

A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.

Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.

Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.

The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

A specific pair GROUP C CHROMSOMES of the human chromosome classification.

Actual loss of portion of a chromosome.

A specific pair of GROUP C CHROMSOMES of the human chromosome classification.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.

Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.

The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.

A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

The alignment of CHROMOSOMES at homologous sequences.

Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.

The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.

The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

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.

One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

Mapping of the KARYOTYPE of a cell.

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.

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.

A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.

Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.

The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.

The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.

Aberrant chromosomes with no ends, i.e., circular.

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.

A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.

The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.

The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.

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.

A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.

The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

Structures within the CELL NUCLEUS of insect cells containing DNA.

A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.

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.

Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.

Structures which are contained in or part of CHROMOSOMES.

The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.

The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).

The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.

A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.

Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.

The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."

The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.

The possession of a third chromosome of any one type in an otherwise diploid cell.

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.

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.

Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.

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)

A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.

A 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).

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.

Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.

The 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.

An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.

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.

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.

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.

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

Genetic loci associated with a QUANTITATIVE TRAIT.

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.

An aberration in which an extra chromosome or a chromosomal segment is made.

Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.

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.

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.

A species of fruit fly much used in genetics because of the large size of its chromosomes.

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.

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).

The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.

The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.

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)

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.

An individual having different alleles at one or more loci regarding a specific character.

Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.

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)

The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.

The process by which a DNA molecule is duplicated.

A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.

The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.

The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).

The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.

The 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.

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.

Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.

The 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.

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.

Genotypic differences observed among individuals in a population.

A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.

The 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)

Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.

The 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.

Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.

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.)

The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.

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.

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).

The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.

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.

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.

Genes that are located on the X CHROMOSOME.

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.

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.

Deoxyribonucleic acid that makes up the genetic material of bacteria.

Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.

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.

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.

A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

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.

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

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).

Genes that influence the PHENOTYPE only in the homozygous state.

PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.

Established cell cultures that have the potential to propagate indefinitely.

Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.

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.

The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.

Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.

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)

The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.

The degree of replication of the chromosome set in the karyotype.

An individual in which both alleles at a given locus are identical.

The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.

The relationships of groups of organisms as reflected by their genetic makeup.

The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.

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.

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.

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.

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)

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)

Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.

The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.

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.

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.

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.

The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

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)

The functional hereditary units of BACTERIA.

The genetic complement of a plant (PLANTS) as represented in its DNA.

DNA present in neoplastic tissue.

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.

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.

A characteristic symptom complex.

The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.

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.

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.

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.

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.

Deoxyribonucleic acid that makes up the genetic material of fungi.

Genes that are located on the Y CHROMOSOME.

Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.

A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.

Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.

Deoxyribonucleic acid that makes up the genetic material of plants.

A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.

The mechanisms by which the SEX of an individual's GONADS are fixed.

A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

The functional hereditary units of INSECTS.

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.

The prophase of the first division of MEIOSIS (in which homologous CHROMOSOME SEGREGATION occurs). It is divided into five stages: leptonema, zygonema, PACHYNEMA, diplonema, and diakinesis.

A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)

A method for ordering genetic loci along CHROMOSOMES. The method involves fusing irradiated donor cells with host cells from another species. Following cell fusion, fragments of DNA from the irradiated cells become integrated into the chromosomes of the host cells. Molecular probing of DNA obtained from the fused cells is used to determine if two or more genetic loci are located within the same fragment of donor cell DNA.

A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

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.

Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.

Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

Renal function studies in an infant with 4p (-) syndrome. (1/114)

An infant with the syndrome of deletion of the short arm of chromosome 4 is described. In addition, this child had renal insufficiency, which is found rarely in association with the 4p(--) syndrome. Previous reports of this syndrome have described only isolated gross structural abnormalites of the urinary tract. In the case discussed here, we present clinical and functional data which indicate that this patient had bilateral renal dysplasia. (+info)

Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. (2/114)

The techniques of somatic cell genetics have been used to establish the linkage relationships of loci coding for two forms (A and B) of hexosaminidase (EC 3.2.1.30; 2-acetamido-2-deoxy-beta-D-glucoside acetamidodeoxyglucohydrolase) and to determine whether a structural relationship exists between these forms. In a series of human-mouse hybrid cell lines, hexosaminidase A and B segregated independently. Our results and those reported by other investigators are used to analyze the proposed structural models for hexosaminidase. We have also been able to establish a syntenic relationship between the gene locus responsible for the expression of hexosaminidase A and those responsible for mannosephosphate isomerase and pyruvate kinase-3 and to assign the gene for hexosaminidase B to chromosome 5 in man. There is thus a linkage between specific human autosomes and enzymes implicated in the production of lipid storage diseases. (+info)

Genetic analysis of the cell surface: association of human chromosome 5 with sensitivity to diphtheria toxin in mouse-human somatic cell hybrids. (3/114)

Diphtheria toxin inhibits protein synthesis in eukaryotic cells by catalyzing inactivation of elongation factor 2. The 10,000-fold greater sensitivity in vitro to diphtheria toxin of human cells as compared to mouse cells seems to be attributable to a difference at the level of the cell membrane. Mouse-human cell hybrids are as sensitive to diphtheria toxin as human cells. We have shown that the sensitivity of the hybrid cells is due to a gene or genes located on human chromosome 5. Mouse-human hybrid cells in which chromosome 5 is present are as sensitive to the toxin as human cells, which hybrids without chromosome 5 are as resistant as mouse cells. Entry of toxin into cells seems to be a two-step process involvin, (1) binding of toxin to the cell surface and (2) endocytotic uptake of toxin. The difference in sensitivity between human and mouse cells and between hybrid cells with and without chromosome 5 does not appear to be due to a difference in endocytotic activity and may be due to presence or absence of toxin-specific receptor. (+info)

Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone. (4/114)

A patient with idiopathic marrow hypoplasia associated with short stature and other anomalies (Fanconi's anaemia) is described: treatment with human growth hormone for one year did not accelerate his growth rate or significantly affect his anaemia: androgen treatment considerably improved both features. Endocrine studies suggest that though he had poor and insufficient production of endogenous growth hormone to insulin-induced hypoglycaemia, the major defect in this syndrome is determined more at the end-organ than at the pituitary or gonadal level. (+info)

A new hematologic syndrome with a distinct karyotype: the 5 q--chromosome. (5/114)

Five patients, four women and one man, age 32-8- yr, all whites, had refractory anemia with the same abnormal bone marrow karyotype, i.e., a partial deletion of the long arm of the No. 5 chromosome. The hematologic syndrome was practically the same in these five cases. Examination of the blood revealed a moderate to severe, generally macrocytic anemia with slight leukopenia but normal or elevated platelet count. The bone marrow showed a depressed erythroid series and some abnormalities of the granulocytic series with an occasional excess of myeloblasts. Most of the megakaryocytes had a nonlobulated nucleus. These features, as well as cytogenetic, electron microscopic, isotopic, platelet function, and immunologic studies, are described in detail. The relationship of this newly established syndrome to other hematologic diseases is discussed. The syndrome constitutes another example of the association between a specific abnormal chromosome and a distinct hematologic disorder. (+info)

Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'. (6/114)

Five members of a family with a balanced insertion (1;5)(q32;q11q22) are presented. The daughter of one of them shows multiple malformations and a partial trisomy for the long arms of chromosome No. 5 (5q11 to 5q22 segment) resulting from a 'aneusomie de recombinaison' in her mother. The propositus' karyotype is 46,XX,rec(1;5)ins (1;5)(q32;q11q22). This case is the first reported example of an insertion between two chromosomes followed by 'aneusomie de recombinaison'. It also is the first reported case of trisomy invovling the long arms of chromosome No. 5. (+info)

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring. (7/114)

Five cases of chromosome imbalance resulting from 3:1 disjunction of reciprocal translocations are described. A review of the literature suggests this phenomenon is more common than has previously been recognized. (+info)

Chromosomal banding patterns in acute nonlymphocytic leukemia. (8/114)

Bone marrow chromosomes obtained from 50 of 55 consecutive adult patients with acute nonlymphocytic leukemia were analyzed with quinacrine fluorescence. Twenty-five patients showed a normal karyotype and 25 an abnormal karyotype on the initial samples available for analysis. Among the 25 patients with abnormalities, the marrow cells contained 48 chromosomes in one case, 47 in two, 46 in ten, 45 in nine, 43 in two, and 42 chromosomes in one case. Seven of the ten patients with 46 chromosomes had abnormalities, primarily balanced translocations, that were not detected with the standard Giemsa stains. The analysis of all of the data available revealed the presence of nonrandom chromosome changes such as the addition of No. 8, the loss of No. 7, and a gain or loss of one No. 21. the most frequent structural rearrangement was the translocation between the long arm of No. 8 and No. 21, which may also be associated with the loss of a sex chromosome. Chromosomal abnormalities decreased or disappeared during remission; the same abnormality recurred in relapse. Chemotherapy did not appear to produce a stable clone of aberrant cells. Evolution of the karyotype occurred in eight patients, in five of whom an additional No. 8 was observed. This pattern of chromosomal evolution in patients with acute leukemia was very similar to that observed in patients with chronic myelogenous leukemia in the blast phase. (+info)

Articles with short description, Short description matches Wikidata, Genes on human chromosome 12, Wikipedia articles ... DDIT3+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Crozat A, Aman P, Mandahl N, Ron D (June 1993). "Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma". ... Ma R, Yang L, Niu F, Buch S (January 2016). "HIV Tat-Mediated Induction of Human Brain Microvascular Endothelial Cell Apoptosis ...

https://en.wikipedia.org/wiki/DNA_damage-inducible_transcript_3

It has 14 chromosomes. Vicia bithynica is not cultivated for human or livestock consumption. The seeds contain high levels of ... 59 (4): 463-468. doi:10.1002/jsfa.2740590406. Warren, Susan. "The Wild Flowers of Skopelos". Bennett, S.J.; Maxted, N. (1997 ... 44 (5): 411-428. doi:10.1023/A:1008688919569. S2CID 2863256. Van de Wouw, M. (2001). "Vetches (Vicia L.)". In Maxted, N.; ... The flowers are arranged in pairs (although sometimes solitary) on long (5 cm) peduncles branching from the leaf axils. The ...

https://en.wikipedia.org/wiki/Vicia_bithynica

v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 5, CS1: long ... Creatine kinase S-type, mitochondrial is an enzyme that in humans is encoded by the CKMT2 gene. Mitochondrial creatine kinase ( ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... "Entrez Gene: CKMT2 creatine kinase, mitochondrial 2 (sarcomeric)". Human CKMT2 genome location and CKMT2 gene details page in ...

https://en.wikipedia.org/wiki/CKMT2

"Tandem arrangement of the closely linked desmoglein genes on human chromosome 18". Genomics. 25 (2): 591-4. doi:10.1016/0888- ... "Protein sequence of human DSG2 protein". Cardiac Organellar Protein Atlas Knowledgebase. Archived from the original on 4 March ... Desmoglein-2 is a protein that in humans is encoded by the DSG2 gene. Desmoglein-2 is highly expressed in epithelial cells and ... Arnemann J, Spurr NK, Magee AI, Buxton RS (Jun 1992). "The human gene (DSG2) coding for HDGC, a second member of the desmoglein ...

https://en.wikipedia.org/wiki/Desmoglein-2

Genes on human chromosome X, All stub articles, Human chromosome X gene stubs). ... "Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution". Science. 308 (5725): 1149-54. Bibcode:2005Sci... ... Plexin-B3 is a protein that in humans is encoded by the PLXNB3 gene. PLXNB3 has been shown to interact with ARHGEF11. Model ... Brenner V, Nyakatura G, Rosenthal A, Platzer M (Aug 1997). "Genomic organization of two novel genes on human Xq28: compact head ...

https://en.wikipedia.org/wiki/PLXNB3

FactorBook Ini1 (Genes on human chromosome 22). ... activation domains of human heat shock factor 1 recruit human ... Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (September 1998). "A human RNA polymerase II ... Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (1998). "A human RNA polymerase II complex ... Kalpana GV, Marmon S, Wang W, Crabtree GR, Goff SP (January 1995). "Binding and stimulation of HIV-1 integrase by a human ...

https://en.wikipedia.org/wiki/SMARCB1

Portal: Biology v t e (Genes on human chromosome 7, EC 2.7.11, All stub articles, Human chromosome 7 gene stubs). ... 2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767-72. Bibcode:2003Sci...300..767S. doi:10.1126/ ... 2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157-64. Bibcode:2003Natur.424..157H. doi:10.1038/ ... Serine/threonine-protein kinase PFTAIRE-1 is an enzyme that in humans is encoded by the PFTK1 gene. PFTK1 has been shown to ...

https://en.wikipedia.org/wiki/PFTK1

Genes on human chromosome 12, Ion channels, All stub articles, Membrane protein stubs). ... "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm Genome. 4 (12): 711-5. doi:10.1007/ ... Potassium voltage-gated channel subfamily C member 2 is a protein that in humans is encoded by the KCNC2 gene. The protein ... Kv3.2+Potassium+Channel at the US National Library of Medicine Medical Subject Headings (MeSH) KCNC2+protein,+human at the US ...

https://en.wikipedia.org/wiki/KCNC2

The human PRNP gene is located on the short (p) arm of chromosome 20 between the end (terminus) of the arm and position 13, ... of a human gene homologous to the PrP gene on the p arm of chromosome 20 and detection of PrP-related antigens in normal human ... "Assignment of the human and mouse prion protein genes to homologous chromosomes". Proc. Natl. Acad. Sci. U.S.A. 83 (19): 7358- ... Genes on human chromosome 20, Clusters of differentiation, Amyloidosis). ...

https://en.wikipedia.org/wiki/PRNP

v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 19, Wikipedia articles ... and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1". Genomics. 12 (2): 190-6. doi:10.1016/0888-7543(92)90365-Y. PMID ... "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm. Genome. 4 (12): 711-5. doi:10.1007/ ... Potassium voltage-gated channel, Shaw-related subfamily, member 3 also known as KCNC3 or Kv3.3 is a protein that in humans is ...

https://en.wikipedia.org/wiki/KCNC3

Young M, Chen H, Lalioti MD, Antonarakis SE (May 1996). "The human lanosterol synthase gene maps to chromosome 21q22.3". Human ... "The human lanosterol synthase gene maps to chromosome 21q22.3". Human Genetics. 97 (5): 620-624. doi:10.1007/BF02281872. PMID ... "Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)". Human Genetics. ... "Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution". Science. 308 (5725): 1149-54. Bibcode:2005Sci... ...

https://en.wikipedia.org/wiki/Lanosterol_synthase

v t e (Genes on human chromosome 18, All articles with unsourced statements, Articles with unsourced statements from April 2021 ... 2005). "DNA sequence and analysis of human chromosome 18". Nature. 437 (7058): 551-5. doi:10.1038/nature03983. PMID 16177791. ... CDK5 and ABL1 enzyme substrate 1 is a protein that in humans is encoded by the CABLES1 gene. CABLES1 is a cyclin-dependent ... "Entrez Gene: CABLES1 Cdk5 and Abl enzyme substrate 1". Human CABLES1 genome location and CABLES1 gene details page in the UCSC ...

https://en.wikipedia.org/wiki/CABLES1

Chen H, Antonarakis SE (1998). "The SH3D1A gene maps to human chromosome 21q22.1-->q22.2". Cytogenetics and Cell Genetics. 78 ( ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 21, EH-domain-containing ... and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2". Cytogenetics ... Intersectin-1 is a protein that, in humans, is encoded by the ITSN1 gene. The protein encoded by this gene is a cytoplasmic ...

https://en.wikipedia.org/wiki/Intersectin_1

... is a protein that in humans is encoded by the TSBP1 gene. C6orf10 is an open reading frame on chromosome 6 containing a ... "Entrez Gene: C6orf10 chromosome 6 open reading frame 10". "AceView: Gene:C6orf10, a comprehensive annotation of human, mouse ... Genes on human chromosome 6, All articles with unsourced statements, Articles with unsourced statements from February 2020). ... C6orf10 contains seven human mRNA splice variants (a, b, c, X1, X2, X3, X4). TSBP1 contains a highly conserved stem loop ...

https://en.wikipedia.org/wiki/TSBP1

A chromosome analysis performed the following month by Engel revealed that Speck had a normal XY karyotype. One month later, a ... ISBN 978-1-483-35072-1. Leyton, Elliot (2011) [1986]. Hunting Humans: The Rise Of The Modern Multiple Murderer. Toronto: ... "Of chromosomes & crime". Time. Vol. 91, no. 18. May 3, 1968. p. 41. Archived from the original on October 29, 2010. "Born bad ... "Extra chromosome brings acquittal on murder charge". The New York Times. October 10, 1968. p. 94. Auerbach, Stuart (October 10 ...

https://en.wikipedia.org/wiki/Richard_Speck

Genes on human chromosome 3). ... has a crucial role in meiotic sex chromosome silencing. TOPBP1 ... DNA topoisomerase 2-binding protein 1 is an enzyme that in humans is encoded by the TOPBP1 gene. This gene encodes a binding ... Boner W, Taylor ER, Tsirimonaki E, Yamane K, Campo MS, Morgan IM (June 2002). "A Functional interaction between the human ... October 1996). "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes ( ...

https://en.wikipedia.org/wiki/TOPBP1

Genes on human chromosome 1, Tyrosine kinases, All stub articles, Human chromosome 1 gene stubs). ... at chromosome 1p36.2-p36.1". Human Molecular Genetics. 1 (1): 65. doi:10.1093/hmg/1.1.65-a. PMID 1339476. Link DC, Gutkind SJ, ... "Isolation of duplicated human c-src genes located on chromosomes 1 and 20". Molecular and Cellular Biology. 5 (4): 831-8. doi: ... Katamine S, Notario V, Rao CD, Miki T, Cheah MS, Tronick SR, Robbins KC (Jan 1988). "Primary structure of the human fgr proto- ...

https://en.wikipedia.org/wiki/FGR_(gene)

Genes on human chromosome 14, CS1: long volume value, All stub articles, Human chromosome 14 gene stubs). ... Madani N, Kabat D (1998). "An Endogenous Inhibitor of Human Immunodeficiency Virus in Human Lymphocytes Is Overcome by the ... Sheehy AM, Gaddis NC, Choi JD, Malim MH (2002). "Isolation of a human gene that inhibits HIV-1 infection and is suppressed by ... Proteasome activator complex subunit 2 is a protein that in humans is encoded by the PSME2 gene. The 26S proteasome is a ...

https://en.wikipedia.org/wiki/PSME2

2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... Genes on human chromosome 1, Protein pages needing a picture). ... is a protein that in humans is encoded by the CROCC gene. ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 1998). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Res. 4 (5): 345-9. doi: ...

https://en.wikipedia.org/wiki/Rootletin

Genes on human chromosome 8, Defensins, All stub articles, Human chromosome 8 gene stubs). ... Defensin, alpha 1 also known as human alpha defensin 1, human neutrophil peptide 1 (HNP-1) or neutrophil defensin 1 is a human ... 1989). "Assignment of defensin gene(s) to human chromosome 8p23". Genomics. 5 (2): 240-4. doi:10.1016/0888-7543(89)90052-9. ... 1988). "A myeloid-related sequence that localizes to human chromosome 8q21.1-22". Blood. 71 (6): 1713-9. doi:10.1182/blood. ...

https://en.wikipedia.org/wiki/DEFA1

"The parental origin of the extra X chromosome in 47,XXX females". American Journal of Human Genetics. 46 (4): 754-761. PMC ... Chromosome aneuploidies such as trisomy X are diagnosed via karyotype, the process in which chromosomes are tested from blood, ... "National X & Y Chromosome Variation Awareness Month". AXYS: Association for X and Y Chromosome Variations. Retrieved 23 May ... It may refer to a person's chromosome complement, to the test used to discern said chromosome complement, or to an image of ...

https://en.wikipedia.org/wiki/Trisomy_X

v t e (Genes on human chromosome 3, All stub articles, Human chromosome 3 gene stubs). ... Horikawa I, Barrett JC (2003). "cDNA cloning of the human polybromo-1 gene on chromosome 3p21". DNA Seq. 13 (4): 211-5. doi: ... "The human SWI/SNF-B chromatin-remodeling complex is related to yeast Rsc and localizes at kinetochores of mitotic chromosomes ... Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) is a protein that in humans is encoded by the PBRM1 ...

https://en.wikipedia.org/wiki/PBRM1

Genes on human chromosome 1, All stub articles, Human chromosome 1 gene stubs). ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43". ... Alberati-Giani D, Cesura AM, Broger C, Warren WD, Rover S, Malherbe P (Sep 1997). "Cloning and functional expression of human ...

https://en.wikipedia.org/wiki/KMO_(gene)

Human proteins, All stub articles, Human chromosome 1 gene stubs). ... OR4F5 is the first protein coding gene on human chromosome 1. GRCh38: Ensembl release 89: ENSG00000186092 - Ensembl, May 2017 " ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, Wikipedia articles ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Entrez Gene: ...

https://en.wikipedia.org/wiki/OR4F5

... , IRX2, and IRX4 are found on human chromosome 5, and their orientation corresponds to that of IRX3, IRX5, and IRX6 found ... "Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenet. Cell Genet. 92 (3-4): 320-5. doi:10.1159/ ... Genes on human chromosome 5, Wikipedia articles incorporating text from the United States National Library of Medicine). ... The human gene product is a 1858 base pair mRNA with 4 predicted exons in humans. Promoter analysis was performed using El ...

https://en.wikipedia.org/wiki/IRX1

In humans the protein is encoded by the NPC1 gene (chromosome location 18q11). NPC1 was identified as the gene that when ... July 1997). "Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C". ... Genes on human chromosome 18, Commons category link from Wikidata, Wikipedia articles incorporating text from the United States ... March 1993). "Linkage of Niemann-Pick disease type C to human chromosome 18". Proceedings of the National Academy of Sciences ...

https://en.wikipedia.org/wiki/NPC1

Lucotte G, Smets P; Smets (December 1999). "Origins of Falasha Jews studied by haplotypes of the Y chromosome". Human Biology. ... The controversial response by the Punjab State reportedly involved the use of human rights violations in the form of ... United Nations Human Development Report 2005. Archived from the original (PDF) on 2008-05-12. Retrieved 2008-05-09. Griffiths, ... Retrieved July 5, 2008. Link to: Archived 2008-06-11 at the Wayback Machine Chima, Jugdep. "Effects of Political Leadership on ...

https://en.wikipedia.org/wiki/Separatism

v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 16, Wikipedia articles ... "Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenet. Cell Genet. 92 (3-4): 320-5. doi:10.1159/ ... Iroquois-class homeodomain protein IRX-6, also known as Iroquois homeobox protein 6, is a protein that in humans is encoded by ... incorporating text from the United States National Library of Medicine, All stub articles, Human chromosome 16 gene stubs). ...

https://en.wikipedia.org/wiki/IRX6

Genes on human chromosome 19, All stub articles, Human chromosome 19 gene stubs). ... "Chromosome mapping of the human ras-related rab3A gene to 19p13.2". Genomics. 5 (4): 694-8. doi:10.1016/0888-7543(89)90110-9. ... "Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA ... Ras-related protein Rab-3A is a protein that in humans is encoded by the RAB3A gene. It is involved in calcium-triggered ...

https://en.wikipedia.org/wiki/RAB3A

v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 5, Wikipedia articles ... "Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenet. Cell Genet. 92 (3-4): 320-5. doi:10.1159/ ... Iroquois-class homeodomain protein IRX-2, also known as Iroquois homeobox protein 2, is a protein that in humans is encoded by ... incorporating text from the United States National Library of Medicine, All stub articles, Human chromosome 5 gene stubs). ...

https://en.wikipedia.org/wiki/IRX2

Chromosome conformation capture. Organizations. *DNA Data Bank of Japan (JP). *European Molecular Biology Laboratory (EU) ... Human proteome project. *Call-map proteomics. *Structure-based drug design. *Expression proteomics ...

https://en.wikipedia.org/wiki/Structural_genomics

Those who could afford it sought burial at Dilmun.[78] Human sacrifice was found in the death pits at the Ur royal cemetery ... a result that finds some support from Y chromosome analysis which shows that the Natufians and successor Levantine Neolithic ... The gods were said to have created human beings from clay for the purpose of serving them. The temples organized the mass ... Sumerians believed in an anthropomorphic polytheism, or the belief in many gods in human form. There was no common set of gods ...

https://en.m.wikipedia.org/wiki/Sumer

"American Journal of Human Genetics. 88 (5): 536-47. doi:10.1016/j.ajhg.2011.04.003. PMC 3146728. PMID 21529751.. ... Chromosomal (balanced rearrangements and ring chromosome). *Syndromes *Chromosomal *Poland syndrome[17]. *Down syndrome[18] ... "The Human Marvels. 16 October 2010. Archived from the original on 14 April 2016.. ... Microcephaly generally is due to the diminished size of the largest part of the human brain, the cerebral cortex, and the ...

https://en.wikipedia.org/wiki/Microcephaly

... localization of the interferon-beta 2/B-cell stimulatory factor 2/hepatocyte stimulating factor gene to human chromosome 7p15- ... In humans, it is encoded by the IL6 gene.[5] In addition, osteoblasts secrete IL-6 to stimulate osteoclast formation. Smooth ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... Overview of all the structural information available in the PDB for UniProt: P05231 (Human Interleukin-6) at the PDBe-KB. ...

https://en.wikipedia.org/wiki/Interleukin_6

Song I, Brown DR, Wiltshire RN, et al. (1993). „The human gastrin/cholecystokinin type B receptor gene: alternative splice ... to chromosome 11p15.5→p15.4 by fluorescence in situ hybridization.". Cytogenet. Cell Genet. 65 (3): 184-5. DOI:10.1159/ ... Zimonjic DB, Popescu NC, Matsui T, et al. (1993). „Localization of the human cholecystokinin-B/gastrin receptor gene (CCKBR) ... Ito M, Matsui T, Taniguchi T, et al. (1993). „Functional characterization of a human brain cholecystokinin-B receptor. A ...

https://sh.wikipedia.org/wiki/Holecistokininski_receptor_B

"The phylogenetic and geographic structure of Y-chromosome haplogroup R1a". European Journal of Human Genetics. 23 (1): 124-131 ... "Annals of Human Biology. 40 (6): 515-526. doi:10.3109/03014460.2013.813584. ISSN 1464-5033. PMID 23879710. S2CID 34621779.. ... A mass democratic movement, coordinated by the Committee for the Defense of Human Rights, pushed the Communists in the ... 5. ISSN 1408-2616.. *^ Government of Slovenia (1994). "Act Regulating the Coat-of-Arms, Flag and Anthem of the Republic of ...

https://en.m.wikipedia.org/wiki/Slovenes

The Conserved Neighborhood method is based on the hypothesis that if genes encoding two proteins are neighbors on a chromosome ... Prediction databases include many PPIs that are predicted using several techniques (main article). Examples: Human Protein- ... 978-0-87893-106-4. .. [page needed] *^ a b c d e Jones S, Thornton JM (January 1996). "Principles of protein-protein ... and humans.[44] In such studies, numerous mutations defective in the same gene were often isolated and mapped in a linear order ...

https://en.wikipedia.org/wiki/Protein–protein_interaction

UniProt employs an "organism mnemonic" of not more than five alphanumeric characters, e.g., HUMAN for H. sapiens.[115] ... sets of chromosomes) and allozymes (enzyme variants).[46] ... 26 (5).. *^ DeSalle, R.; Egan, M. G.; Siddall, M. (2005). "The ... Conserving Biodiversity in Human-Dominated Landscapes. Washington: Island Press. pp. 150-163. Archived from the original on 7 ... "UN report: Humans accelerating extinction of other species". Associated Press.. *^ a b Mora, Camilo; Tittensor, Derek P.; Adl ...

https://en.m.wikipedia.org/wiki/Species

"Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21". Annals of Human Genetics. 57 (Pt 3). ... "American Journal of Human Genetics. 74 (6). Jun 2004: 1111-20. doi:10.1086/421051. PMC 1182075. PMID 15114531.. ... "Molecular genetics of human lactase deficiencies". Annals of Medicine. 41 (8). 2009: 568-75. doi:10.1080/07853890903121033. ... "Biosynthesis and maturation of lactase-phlorizin hydrolase in the human small intestinal epithelial cells". The Biochemical ...

https://az.wikipedia.org/wiki/Laktaza

Chromosome Botany, p. 36. London: Allen & Unwin. *^ Darlington, C.D.; Mather, K. 1949. The Elements of Genetics, pp. 335-336. ... Non-human apes have similar blood groups to humans; this strongly suggests that this kind of polymorphism is ancient, at least ... or if it is necessary for them to start on the same chromosome. Originally, it was held that chromosome rearrangement would ... However, many believe it more likely that the genes start on the same chromosome.[21] They argue that supergenes arose in situ ...

https://en.wikipedia.org/wiki/Polymorphism_(biology)

"Journal of Human Genetics. 49 (1): 617-621. doi:10.1007/s10038-004-0197-5. PMID 15503242. S2CID 21446773.. ... The PAH gene is located on chromosome 12 in the bands 12q22-q24.2.[22] As of 2000, around 400 disease-causing mutations had ... Lewis R (1997). Human Genetics. Chicago, IL: Wm. C. Brown. pp. 247-248. ISBN 978-0-697-24030-9. .. ... The average number of new cases of PKU varies in different human populations. United States Caucasians are affected at a rate ...

https://en.m.wikipedia.org/wiki/PKU

"Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the ... "American Journal of Human Genetics. 74 (5): 1014-1022. doi:10.1086/386294. ISSN 0002-9297. PMC 1181964. PMID 15042509.. ... "American Journal of Human Genetics. 70 (6): 1594-1596. doi:10.1086/340669. ISSN 0002-9297. PMC 379148. PMID 11992266.. ... "American Journal of Human Genetics. 74 (5): 1023-1034. doi:10.1086/386295. ISSN 0002-9297. PMC 1181965. PMID 15069642.. ...

https://en.m.wikipedia.org/wiki/Berber_people

Jared Diamond, 'Guns, Germs, and Steel: The Fates of Human Societies' (1997) Chapter 19 ... "Y-Chromosome Variation Among Sudanese: Restricted Gene Flow, Concordance With Language, Geography, and History" Archived 2016- ... 1 of 5: Being a Journal of an Expedition Undertaken Under the Auspices of H. B. M. 'S Government, in the Years 1849 1855 ( ... Retrieved 4 November 2015.. *^ Iliffe, John (2007). Africans: The History of a Continent. Cambridge University Press. p. 75. ...

https://en.wikipedia.org/wiki/Hausa_people

Gregory SG, Barlow KF, McLay KE i dr.. (2006). „The DNA sequence and biological annotation of human chromosome 1.". Nature 441 ... Lee DK, George SR, Cheng R, Nguyen T, Liu Y, Brown M, Lynch KR, O'Dowd BF (Feb 2001). „Identification of four novel human G ... Strausberg RL, Feingold EA, Grouse LH i dr.. (2003). „Generation and initial analysis of more than 15,000 full-length human and ... Takeda S, Kadowaki S, Haga T i dr.. (2002). „Identification of G protein-coupled receptor genes from the human genome sequence ...

https://sh.wikipedia.org/wiki/GPR61

Accordin tae paleontologists, Wales haes been indwellt bi modren humans for at least 29,000 year.[10] Conteenuous human ... "A major Y-chromosome haplogroup R1b Holocene effect in Central and Western Europe - see discussion results at end of article, ... "European Journal of Human Genetics. 19 (1): 95-101. doi:10.1038/ejhg.2010.146. PMC 3039512. PMID 20736979.. ... 4-6 *↑ "GGAT 72 Overviews" (PDF). A Report for Cadw by Edith Evans BA PhD MIFA and Richard Lewis BA. Glamorgan-Gwent ...

https://sco.m.wikipedia.org/wiki/Wales

"American Journal of Human Genetics. 101 (2): 274-282. DOI:10.1016/j.ajhg.2017.06.013. PMC 5544389. PMID 28757201.. Проверьте ... "Ancient Migratory Events in the Middle East: New Clues from the Y-Chromosome Variation of Modern Iranians". PLOS One. 7 (7): ... 181 (5): 1146-1157.e11. DOI:10.1016/j.cell.2020.04.024. PMID 32470400.. Проверьте дату в ,date=. (справка на английском). ... 181 (5): 1158-1175.e28. DOI:10.1016/j.cell.2020.04.044. PMID 32470401.. Проверьте дату в ,date=. (справка на английском). ...

https://ru.m.wikipedia.org/wiki/Гаплогруппа_J-M205

Therman, Eeva (১৯৮০)। Human Chromosomes: Structure, Behavior, Effects। Springer US। পৃষ্ঠা 112-24। আইএসবিএন 978-1-4684-0109-7। ... "Human Anatomy"। Inner Body। সংগ্রহের তারিখ ৬ জানুয়ারি ২০১৩।. *↑ Parker-Pope, Tara (অক্টোবর ২৭, ২০০৯)। "The Human Body Is Built ... "The Science Behind the Human Genome Project"। Human Genome Project। US Department of Energy। ২ জানুয়ারি ২০১৩ তারিখে মূল থেকে ... "Genetic - Understanding Human Genetic Variation"। Human Genetic Variation। National Institute of Health (NIH)। ২৫ আগস্ট ২০১৩ ...

https://bn.wikipedia.org/wiki/মানব

Batini, Chiara; Jobling, Mark (2017). "Detecting past male-mediated expansions using the Y chromosome". Human Genetics. 136 (5 ... "European Journal of Human Genetics. 26 (2): 230-237. doi:10.1038/s41431-017-0012-3. PMC 5839053. PMID 29358612.. ... "European Journal of Human Genetics. 26 (2): 230-237. doi:10.1038/s41431-017-0012-3. PMC 5839053. PMID 29358612.. ... "The American Journal of Human Genetics. 86 (5): 661-73. doi:10.1016/j.ajhg.2010.03.011. ISSN 0002-9297. PMC 2869013. PMID ...

https://en.wikipedia.org/wiki/Chingizid

Empathy allows humans to experience love and to build bonds. The moral that humans gain from empathy allow them to repair and ... Evolution of human music through sexual selection by G. F. Miller in N. L. Wallin, B. Merker, & S. Brown (Eds.), The origins of ... The Mating Mind: How Sexual Choice Shaped the Evolution of Human Nature Archived 15 May 2007 at the Wayback Machine by Geoffrey ... It is a suite of adaptations and by-products that arose sometime during the recent evolutionary history of humans.[8] ...

https://en.wikipedia.org/wiki/Biological_basis_of_love

Mungall AJ, Palmer SA, Sims SK, et al. (2003). „The DNA sequence and analysis of human chromosome 6". Nature 425 (6960): 805-11 ... Lee DK, George SR, Cheng R, et al. (2001). „Identification of four novel human G protein-coupled receptors expressed in the ... Strausberg RL, Feingold EA, Grouse LH, et al. (2003). „Generation and initial analysis of more than 15,000 full-length human ... with homologies to Xenopus PSP24 and human GPR45.". Biochem. Biophys. Res. Commun. 276 (3): 952-6. DOI:10.1006/bbrc.2000.3569. ...

https://sh.wikipedia.org/wiki/GPR63

Genes on human chromosome X. *EC 3.4.17. *Single-pass transmembrane proteins ... Recombinant human ACE2[edit]. Recombinant human ACE2 (rhACE2) is surmised to be a novel therapy for acute lung injury, and ... "Inhibition of SARS-CoV-2 Infections in Engineered Human Tissues Using Clinical-Grade Soluble Human ACE2". Cell. 181 (4): 905- ... The expression profile of mACE2 in the human body was recently thoroughly evaluated by the Human Protein Atlas team using a ...

https://en.wikipedia.org/wiki/Angiotensin_converting_enzyme_2

Chemicals Identified in Human Biological Media: A Data Base. Design and Development Branch, Survey and Analysis Division, ... Males with certain sex chromosome genetic conditions, such as Klinefelter's syndrome, will have a higher level of estradiol.[20 ... Apart from humans and other mammals, estradiol is also found in most vertebrates and crustaceans, insects, fish, and other ... During the reproductive years of the human female, levels of estradiol are somewhat higher than that of estrone, except during ...

https://en.m.wikipedia.org/wiki/Estradiol

"Human Molecular Genetics. 10 (16): 1665-71. doi:10.1093/hmg/10.16.1665. PMID 11487570.. ... The gene for the amyloid precursor protein is located on chromosome 21, and accordingly people with Down syndrome have a very ... To date, human testing has been avoided due to concern that it might interfere with signaling via Notch proteins and other cell ... Studies focusing on human breast cancer cell lines have further demonstrated that these cancerous cells display an increased ...

https://en.wikipedia.org/wiki/Beta_amyloid

"List Of All Transcription Factors In Human". biostars.org.. *^ Gill G (2001). "Regulation of the initiation of eukaryotic ... Transcription factors (like all proteins) are transcribed from a gene on a chromosome into RNA, and then the RNA is translated ... There are up to 1600 TFs in the human genome.[3] Transcription factors are members of the proteome as well as regulome. ... Semenza, Gregg L. (1999). Transcription factors and human disease. Oxford [Oxfordshire]: Oxford University Press. ISBN 978-0-19 ...

https://en.wikipedia.org/wiki/Transcription_factors

1987). "Human gene coding for granulocyte-colony stimulating factor is assigned to the q21-q22 region of chromosome 17". Somat ... 1987). "Expression of granulocyte colony-stimulating factor by human cell lines". J. Leukoc. Biol. 41 (4): 302-6. PMID 3494801. ... 1994). "Production of human granulocyte colony stimulating factor by various kinds of stromal cells in vitro detected by enzyme ... 1993). "Secondary structure of human granulocyte colony-stimulating factor derived from NMR spectroscopy". FEBS Lett. 314 (3): ...

https://gl.m.wikipedia.org/wiki/Factor_estimulante_das_colonias_de_granulocitos

Anatomy of the Human Body. Chap. IX: Neurology. 22th Edition (en anglès). Lea & Febiger, Philadelphia, 1918 [Consulta: 3 ... Ambros IM, Zellner A, Roald B, Amann G, et al «Role of ploidy, chromosome 1p, and Schwann cells in the maturation of ... Moore, Keith L. The Developing Human. Clinically Oriented Embryology. Chapter 18: The Nervous System (en anglès). Ed. W.B. ... GARD «Hypertrophic neuropathy of Dejerine-Sottas» (en anglès). NIH, US Department of Health & Human Services, 2020; Jul 1 (rev ...

https://ca.m.wikipedia.org/wiki/Innervació

1986 Aug). «Acute Pinesol Toxicity in a Domestic Cat» Veterinary and human toxicology PMID 3750813. (Noiz kontsultatua: 2020-05 ... 2002-03-01). «The genome phylogeny of domestic cat, red panda and five mustelid species revealed by comparative chromosome ... painting and G-banding» Chromosome Research 10 (3): 209-222. doi:10.1023/A:1015292005631. ISSN 1573-6849. (Noiz kontsultatua: ... Emeak 4-5 hilabetetan iristen dira heldutasun sexualera; arrak, 6-7 hilabetean. Gestazioak 65-67 egun irauten du eta kumaldiak ...

https://eu.m.wikipedia.org/wiki/Katu

Interactions with humans. Most common symptoms of any kind of snake bite envenomation.[109][110] Furthermore, there is vast ... Males ordinarily have a ZZ pair of sex-determining chromosomes, and females a ZW pair. However, the Colombian Rainbow boa ( ... 978-1-4027-3181-5. .. *^ a b c d e f g h i j k "Search results for Higher taxa: snake". reptile-database.org. Retrieved 7 March ... 978-1-56098-648-5. .. *^ a b c d e f g h i Black J, Green A (1992). Gods, Demons and Symbols of Ancient Mesopotamia: An ...

https://en.m.wikipedia.org/wiki/Snakes

The lead genetic variant, residing at chromosome 2q31.1, is an intergenic variant approximately 250 kb downstream of the ... "Human brain evolution and the 'Neuroevolutionary Time-depth Principle:' Implications for the Reclassification of fear- ... 16 (4): 1-22, quiz 22-23. PMID 25105200.. *^ a b c d Ruwald, MH (August 2013). "Epidemiological studies on syncope - a register ... 5 per 1,000 per year[1]. Causes range from non-serious to potentially fatal.[1] There are three broad categories of causes: ...

https://en.m.wikipedia.org/wiki/Syncope_

For a bacterium containing a single chromosome, a genome project will aim to map the sequence of that chromosome. For the human ... "Potential Benefits of Human Genome Project Research". Department of Energy, Human Genome Project Information. 2009-10-09. ... For humans, this will allow us to better understand aspects of human genetic diversity. ... "National Human Genome Research Institute (NHGRI). Retrieved 19 April 2018.. *^ Scott, Alison D; Zimin, Aleksey V; Puiu, Daniela ...

https://en.m.wikipedia.org/wiki/Genome_project

Chromosome 14 spans more than 107 million DNA building blocks (base pairs) and represents about 3.5 percent of the total DNA in ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 14, one copy inherited from ... Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 14. Genet Test. 1999;3(4):379-91. doi: ... Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14 or r(14). A ring chromosome is ...

https://medlineplus.gov/genetics/chromosome/14/

... Hum Genet. 1993 Jan;90(5):572-4. doi: 10.1007/BF00217462. ... we have performed non-radioactive in situ hybridization of a cloned DYZ2 fragment at higher stringency conditions on 5-aza- ... cytidine-enlarged Y chromosomes; the results suggest a non-uniform distribution of these sequences, which are preferentially ...

https://pubmed.ncbi.nlm.nih.gov/7679088/?dopt=Abstract

... human) Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome ... Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 15". Genet Test 3 (3): 309-22. ... It uses material from the Wikipedia article "Chromosome_15_(human)". A list of authors is available in Wikipedia. ...

https://www.bionity.com/en/encyclopedia/Chromosome_15_%28human%29.html

... chromosome. The authors conclude that amosite and glass fibers induce chromosome aberrations in human pleural mesothelial cells ... In human fibroblasts, effective doses for inducing chromosome aberrations were 2.67 and 6.67microg/cm2. In passage experiments ... In-vitro-studies; Cell-culture-techniques; Humans; Asbestos-fibers; Fibrous-glass; Dose-response; Chromosome-disorders; Cell- ... The induction of chromosomal aberrations in human pleural mesothelial cells by asbestos (1332214) was studied in-vitro. Human ...

http://www2a.cdc.gov/nioshtic-2/BuildQyr.asp?s1=glass&c2=1&f1=%2A&Startyear=&EndYear=&Limit=10000&sort=&D1=10&s2=fibrous&terms=2&Adv=1&f2=%2A&t1=0&PageNo=11&RecNo=107&View=f&

In vivo binding of active heat shock transcription factor 1 to human chromosome 9 heterochromatin during stress Caroline Jolly, ... C) Ideogram of human chromosome 9 showing the precise location of HSF1 granules (arrow). (D) HSF1 granules (red) were ... C) Ideogram of human chromosome 9 showing the precise location of HSF1 granules (arrow). (D) HSF1 granules (red) were ... Here we show that the granules form on the pericentromeric heterochromatic region of human chromosome 9 through a direct DNA- ...

https://rupress.org/jcb/article/156/5/775/32361/In-vivo-binding-of-active-heat-shock-transcription

http://www2.cdc.gov/nioshtic-2/BuildQyr.asp?s1=asbestos%2A&f1=TI&Startyear=&t1=1&s2=asbestos%2A&B1=Search&terms=3&Adv=1&f2=KW&Limit=500&Sort=DP%2BDESC&D1=75&EndYear=&PageNo=10&RecNo=703&View=f&

Jeffrey Tomkins published Combinatorial genomic data refute the human chromosome 2 evolutionary fusion and build a model of ... chromosome 2 fusion model in which ape chromosomes 2A and 2B purportedly fused end--to-- end, forming human chromosome 2. ... Human chromosome 2 is a product of a telomere fusion of two ancestral chromosomes and loss/degeneration of one of the two ... 2q14.1 and paralogous regions on other human chromosomes. Genome Tomkins ◀Interstitial telomeres and chromosome 2 fusion ▶ 2018 ...

https://www.researchgate.net/publication/329761796_Combinatorial_genomic_data_refute_the_human_chromosome_2_evolutionary_fusion_and_build_a_model_of_functional_design_for_interstitial_telomeric_repeats

... compared with the human chromosome 1 working draft sequence segment NT_004434. To verify the identity of the amplicon with an ... LINKAGE AND CYTOGENETIC MAPPING OF THE BCL9 GENE TO PORCINE CHROMOSOME 4 Author. KNOLL, A ... Interpretive Summary: A gene which affects fat metabolism in humans (B-cell CLL/Lymphoma 9; BCL9) was mapped in the pig as a ... This gene was placed on pig chromosome 4 in the same region where a QTL for fatness has previously been mapped. Additional ...

https://www.ars.usda.gov/research/publications/publication/?seqNo115=137581

... homologous sequences on human chromosomes 6 and 8. Pflugers Arch. 2001;442(6 Suppl 1):R187-9. [PubMed:11678334 ] ... Andersson S, Russell DW: Structural and biochemical properties of cloned and expressed human and rat steroid 5 alpha-reductases ... Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database. ... Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. Proc Natl Acad Sci U S ...

https://hmdb.ca/proteins/HMDBP00699

Determination of staphylococcal cassette chromosome mec (SCCmec) subtypes was performed by PCR according to Boye et al. (4). ... Methicillin-resistant Staphylococcus aureus ST398 in humans and animals, Central Europe. Emerg Infect Dis. 2007;13:255-8.PubMed ... MRSA of clonal lineage ST398 has emerged in humans in Austria. Moreover, it is not confined to Europe but has also been ... Clonal comparison of Staphylococcus aureus isolates from healthy pig farmers, human controls, and pigs. Emerg Infect Dis. 2005; ...

https://wwwnc.cdc.gov/eid/article/15/5/08-0326

2. Human Chromosomes. 3. The Sex Chromatin Body, its Finer Structure and Behavior during Amitosis. 4. Mammalian Sex Chromosomes ... 8. The Sex Chromosomes and the Development of Human Intersexes. 9. Congenital Adrenal Insufficiency with Lipoid Adrenal ... The second part deals first with the fundamentals of sex chromosomes and the development of human intersexes. The discussion ... Observations on Sex Chromatin in Human Tumors. Discussion on the Symposium. General Discussion. Concluding Remarks. ...

https://www.elsevier.com/books/symposium-on-nuclear-sex/robertson-smith/978-1-4832-0091-0

Figure 1 : Human lymphocyte in the first cell division cycle in vitro (the arrow points at a dicentric chromosome). ... The effect of 29 kV X rays on the dose response of chromosome aberrations in human lymphocytes.. Radiat. Res. 158 (2002), 771- ... The effect of 220 kV X-rays with different spectra on the dose response of chromosome abberrations in human lymphocytes.. ... The maximum low-dose RBE of 17.4 and 40 keV monochromatic X rays for the induction of dicentric chromosomes in human peripheral ...

https://www.ptb.de/cms/en/ptb/fachabteilungen/abt6/forschungsnachrichtenabt6/news-from-the-annual-report.html?tx_news_pi1%5Bnews%5D=4481&tx_news_pi1%5Bcontroller%5D=News&tx_news_pi1%5Baction%5D=detail&tx_news_pi1%5Bday%5D=9&tx_news_pi1%5Bmonth%5D=8&tx_news_pi1%5Byear%5D=2007&cHash=6358da1fa1b381caf7dea2685674dd6b

Sites of transcription of polyadenylated and nonpolyadenylated RNAs for 10 human chromosomes were mapped at 5-base pair ... Overall, the transcribed portions of the human genome are predominantly composed of interlaced networks of both poly A+ and ... Unannotated, nonpolyadenylated transcripts comprise the major proportion of the transcriptional output of the human genome. Of ... The transcribed portions of the human genome are predominantly composed of interlaced networks of both poly A+ and poly A- ...

https://www.semanticscholar.org/paper/Transcriptional-Maps-of-10-Human-Chromosomes-at-Cheng-Kapranov/cbaf2184e93857a02f2b4ac23ecc5302bf2f0642

Chromosomes, Human, 4-5 Medicine & Life Sciences 39% * Chromosome Painting Medicine & Life Sciences 33% ... Extrachromosomal DNA seemed to originate from a B-group chromosome. A chromosome 4 painting probe hybridized (FISH) with the ... Extrachromosomal DNA seemed to originate from a B-group chromosome. A chromosome 4 painting probe hybridized (FISH) with the ... Extrachromosomal DNA seemed to originate from a B-group chromosome. A chromosome 4 painting probe hybridized (FISH) with the ...

https://pennstate.pure.elsevier.com/en/publications/double-minutes-in-the-papillary-thyroid-cancer-cell-line-ptc-1113

... which was recently mapped to the short arm of chromosome 17 in the human, is not structurally related to the typical ... De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). ... Phenotypic correction of Fanconi anemia in human hematopoietic cells with a recombinant adeno-associated virus vector. Walsh, C ... The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. Waisfisz, Q., Saar, K., Morgan, N.V., Altay, C., Leegwater, P.A ...

https://www.wikigenes.org/e/mesh/e/17872.html

Different segments of human chromosome 7 share homology with regions from 10 different mouse chromosomes including 2, 4, 5, 6, ... human 7p11.2-p13 is homologous to mouse proximal chromosome 11 and human 7q21-qter has a conserved region on proximal mouse ... An ideogram of human chromosome 7 is shown with vertical black bars indicating the two SRS candidate regions on both the p and ... The human 7q21-qter region is homologous to proximal mouse chromosome 6, which shows two distinct imprinted phenotypes in mice ...

https://jmg.bmj.com/content/38/12/810?ijkey=e4ede4220a5999f3d78c429e5a23670121351c1f&keytype2=tf_ipsecsha

1. Single-gene inheritance, 2. Multifactorial inheritance disorder, 3. Damage to the chromosomes; and 4. Mitochondrial genetic ... The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). These 46 ... The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). These 46 ... Genetic Diseases - Chromosome Abnormalities Which genetic disease with chromosome abnormalities do you or someone you know have ...

https://www.emedicinehealth.com/types_and_list_of_genetic_diseases/article_em.htm

... is an enzyme that in humans is encoded by the SLC25A31 gene on chromosome 4. [5] [6] This enzyme inhibits apoptosis by ... ADP, Inc., an American provider of human resources management software and services; Association of Directory Publishers, an ... ADP/ATP translocase 4 - Wikipedia. en.wikipedia.org/wiki/ADP/ATP_translocase_4 ... 3] [4] Improper ADP-ribosylation has been implicated in some forms of ... ...

https://www.luxist.com/content?q=adp&ei=UTF-8&s_pt=source7&s_chn=1&s_it=rs-rhr1&s_it=rs-rhr2

... and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]. Expression. ... analysis of Drosophila and human 7-methyl GMP-specific nucleotidases Title: Identification of Drosophila and human 7-methyl GMP ... Results from a study on gene expression variability markers in early-stage human embryos shows that NT5C3A is a putative ... Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to ...

https://www.ncbi.nlm.nih.gov/gene/51251

In: Human Genetics, Vol. 1, No. 5, 01.1965, p. 479-482.. Research output: Contribution to journal › Article › peer-review ... Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. In: Human Genetics. 1965 ; Vol. 1, No. 5. ... Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Human Genetics. 1965 Jan;1(5):479-482. doi ... Hirschhorn, K., Cooper, H. L., & Firschein, I. L. (1965). Deletion of short arms of chromosome 4-5 in a child with defects of ...

https://scholars.mssm.edu/en/publications/deletion-of-short-arms-of-chromosome-4-5-in-a-child-with-defects--2

... to human chromosome 2p23.3p24.1 and murine chromosome band 5B by in situ hybridization. Cytogenet Cell Gen 86:242-243 ... homology with human K2P18; as study continues, it will become clear whether this is the true correlate of the human channel or ... Assignment of the human weak inward rectifier K+ channel TWIK-1 gene to chromosome 1q42-q43. Genomics 34:153-155 ... Assignment of KCNK6 encoding the human weak inward rectifier potassium channel TWIK-2 to chromosome band 19q13.1 by radiation ...

https://pharmrev.aspetjournals.org/content/57/4/527/tab-figures-data

Peter Harper presents a lively account of how our ideas and knowledge about human genetics have developed over the past century ... Human Chromosomes. 6. Human Biochemical Genetics. 7. The Human Gene Map. 8. Genes, Populations and Human Inherited Disorders. 9 ... Human Chromosomes. 6. Human Biochemical Genetics. 7. The Human Gene Map. 8. Genes, Populations and Human Inherited Disorders. 9 ... the identification of the first human chromosome abnormalities; and up through the completion of the Human Genome project, this ...

https://global.oup.com/academic/product/a-short-history-of-medical-genetics-9780195187502?lang=en&cc=us

We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26 worldwide populations by the 1000 Genomes ... Carlos Bustamante and colleagues report an analysis of 1,244 human Y chromosomes from the 1000 Genomes Project. They find that ... Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr. Biol. 19, ... Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences. *G David Poznik ORCID: orcid. ...

https://www.nature.com/articles/ng.3559?error=cookies_not_supported&code=938de52f-7bf1-4562-bfec-9f4f6f17d5da

... of cells and human chromosomes #4 and #20 ... Human/hamster somatic cell hybrid retaining a human der(5)t(5; ... GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 5. PCR analysis of DNA from this somatic cell hybrid gave positive results with ... GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 10. PCR analysis of DNA from this somatic cell hybrid gave negative results with ... CHROMOSOME 5 REGIONAL MAPPING PANEL SOMATIC CELL HYBRIDS. CHROMOSOME 10 REGIONAL MAPPING PANEL SOMATIC CELL HYBRIDS. ...

https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=NA14113&PgId=166

Methods for the analysis of human chromosome aberrations / edited by K. E. Buckton, H. J. Evans World Health Organization; ... pericentric inversion of chromosome 9 [‏2; 1.5%]‏, marker chromosome [‏2; 1.5%]‏ and sex chromosome aberrations [‏4; 2.9%]‏. ... Biodosimetry : chromosome aberration in lymphocytes and electron paramagnetic resonance in tooth enamel from atomic bomb ...

https://apps.who.int/iris/browse?locale-attribute=ar&authority=Chromosome+Aberrations&type=mesh

Figure 7: Fluorescence in situ hybridization of human chromosomes using 5 EndTag Texas Red-labeled pHuR 98 detected directly ... Fluorescence in situ hybridization of human chromosomes using 5 EndTag Fluorescein-labeled pUC1.77 detected directly and ... The 5 EndTag Kit is designed to perform 10 labeling reactions of up to 0.6 nmols of 5 ends (e.g. about 5 μg of a 25 base ... Features of the 5 EndTag DNA/RNA Labeling Kit:. *Enables simple and uniform labeling of the 5 end of a DNA, RNA or unmodified ...

https://vectorlabs.com/products/bioconjugation/5-endtag-nucleic-acid-labeling-kit

A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 4" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Chromosomes, Human, Pair 4" by people in this website by year ... Below are the most recent publications written about "Chromosomes, Human, Pair 4" by people in Profiles. ...

https://profiles.musc.edu/display/89612/

The accuracy of chromosomal microarray testing for identification of embryonic mosaicism in human blastocysts. Mol Cytogenet. ... The authors of this study set out to establish the limits of detection and the prevalence of chromosome mosaicism in day 5/6 ... A tool called Saluki, trained with mouse and human messenger RNA data, appears to improve mRNA half-life predictions by taking ... The accuracy of chromosomal microarray testing for identification of embryonic mosaicism in human blastocysts.. Mol Cytogenet. ...

https://www.genomeweb.com/arrays/print-last-weeks-microarray-papers-note-75

The region of chromosome 14 that is deleted includes the FOXG1 gene as well as several neighboring genes. (medlineplus.gov)
Angelman syndrome results from a loss of gene activity in a specific part of chromosome 15, the 15q11-q13 region. (bionity.com)
This chromosomal change deletes the region of chromosome 15 that includes the UBE3A gene. (bionity.com)
Because the copy of the UBE3A gene inherited from a person's father (the paternal copy) is normally inactive in the brain, a deletion in the maternal chromosome 15 results in no active copies of the UBE3A gene in the brain. (bionity.com)
People with paternal UPD for chromosome 15 have two copies of the UBE3A gene, but they are both inherited from the father and are therefore inactive in the brain. (bionity.com)
About 10% of Angelman syndrome cases are caused by a mutation in the UBE3A gene, and another 3% result from a defect in the DNA region that controls the activation of the UBE3A gene and other genes on the maternal copy of chromosome 15. (bionity.com)
This gene was placed on pig chromosome 4 in the same region where a QTL for fatness has previously been mapped. (usda.gov)
A fragment of the porcine BCL9 (B-cell CLL/Lymphoma 9) gene encompassing parts of exons 6 and 7 and intervening intron was amplified using primers from cDNA sequence of the human gene (NM_004326) compared with the human chromosome 1 working draft sequence segment NT_004434. (usda.gov)
2002, while the estimated number could be deletion in the CCR5 gene [ 5,6 ]. (who.int)
HIV-1 is influenced by a mutation in the 1 infection with a typical delay of 2-4 years chemokine receptor ( CCR5 ) gene [ 3,4 ]. (who.int)
Organization and transcriptional output of a novel mRNA-like piRNA gene (mpiR) located on mouse chromosome 10. (semanticscholar.org)
A chromosome 4 painting probe hybridized (FISH) with the chromosome 4 library detected a translocation chromosome and a pulverized chromosome originating from chromosome 4, PTC-1113A is, to our knowledge, the single papillary thyroid cancer cell line demonstrating evidence of gene amplification. (elsevier.com)
Genetic disorders can range from a defect in a single base mutation in the DNA of one gene to chromosomal abnormalities that involve deletion or addition of entire chromosomes or sets of chromosomes. (emedicinehealth.com)
X-linked disorders refer to diseases for which the defective gene is present on the female (X) chromosome. (emedicinehealth.com)
ADP /ATP translocase 4 ( ANT4) is an enzyme that in humans is encoded by the SLC25A31 gene on chromosome 4. (luxist.com)
This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. (nih.gov)
Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. (nih.gov)
Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. (nih.gov)
A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report. (nih.gov)
All artificial chromosomes assembled markers of euchromatin (histone H3 lysine 4 methylation), which may partly reflect marker-gene expression. (biomedcentral.com)
The formation of euchromatin on all artificial chromosomes demonstrates that they can provide a chromosome context suitable for gene expression. (biomedcentral.com)
Ji, Y. and Wei, J. (2013) Isoform Inference From RNA-Seq Samples Based on Gene Structures on Chromosomes. (scirp.org)
Onco-gene, 22(5): p. 734-9. (scirp.org)
Investigation of oxidized LDL-receptor 1 (OLR1) as the candidate gene for Alzheimer's disease on chromosome 12. (cdc.gov)
The gene defect is located on chromosome 8, characterized as the intestinal zinc transporter gene ( ZIP4 ), or SLC39A4 gene, at locus 8q24.3. (medscape.com)
Genome-wide approaches to epidermal function include short interfering RNA-based genetic screens in cultured human epidermal cells 8 and RNA interference-mediated gene knockdown via in utero microinjection of lentiviral vectors 9 . (nature.com)
Human DNA gene sequencing has long been known for Chromosome 8, commonly known as the God Gene for its specific effect on Human Behaviors (see definition in next section). (ethealing.com)
The PCR test template (gene sequence) for the "lab test" also is the same as that found on Chromosome 8, and it has also been found in Swabs used to collect nasal cell samples. (ethealing.com)
The structural chromosome alterations may arise at the chromosome level (e.g., translocations and gains or losses of large portions of chromosomes) or at the nucleotide level, which influence gene structure or expression such as mutations, insertions, deletions, gene amplifications, and gene silencing by epigenetic effects ( Jefford and Irminger-Finger, 2006 ). (frontiersin.org)
Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. (medscape.com)
2013), a human cell gene mutation assay in the TK locus (Budinsky et al. (europa.eu)
A human cell gene mutation assay in the HPRT locus is also available, although experimental methodology is limited (Budinsky et al. (europa.eu)
This gene is present on the long arm of chromosome number 9. (cram.com)

A deletion of genetic material from part of the long (q) arm of chromosome 14 can cause FOXG1 syndrome, which is a rare disorder characterized by impaired development and structural brain abnormalities. (medlineplus.gov)
Asbestos-Induced Mesothelioma and Chromosomal Abnormalities in Human Mesothelial Cells In Vitro. (cdc.gov)
The disorder is clinically and genetically heterogeneous, and various modes of inheritance and abnormalities involving chromosomes 7, 8, 15, 17, and 18 have been associated with SRS and SRS-like cases. (bmj.com)
Chromosome abnormalities usually result from a problem with cell division and arise because of duplications or absences of entire chromosomes or pieces of chromosomes. (emedicinehealth.com)
They found that chromosomal microarrays can detect mosaicism in TE biopsies when present at levels as low as between 25 and 37 percent and the prevalence of day 5/6 blastocysts, which were mosaic and had no other abnormalities, reached 15 percent among a cohort of 551 embryos examined. (genomeweb.com)
These drugs are associated with a high prevalence of chromosomal abnormalities in bone marrow-in particular, the -5, del(5q), -7, del(q) and complex karyotype. (medscape.com)
Of the 50 mutants with an epidermal phenotype, 9 map to human genetic conditions with skin abnormalities. (nature.com)

The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 14. (medlineplus.gov)
Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14 or r(14). (medlineplus.gov)
The induction of chromosomal aberrations in human pleural mesothelial cells by asbestos (1332214) was studied in-vitro. (cdc.gov)
They were examined for chromosomal aberrations at every passage 3 to 5 days after subculturing. (cdc.gov)
The investigation of imprinted genes on chromosome 7 and candidate genes from other chromosomal locations are also discussed with regard to their potential role in SRS. (bmj.com)
A calibrated human Y-chromosomal phylogeny based on resequencing. (nature.com)
Defining the minimal DNA sequences required for centromere function on a normal human chromosome has proved challenging, owing to the complex nature of inter- and intra-chromosomal homology and variability in genomic DNA content near the primary constriction. (biomedcentral.com)
In vitro cytogenicity study in mammalian cells: Nickel Sulphate was positive for chromosomal aberrations in Syrian hamster embryo cells when tested at concentrations up to 5 µg/mL (Larramendy et al. (europa.eu)
Results of an In Vitro Mammalian Chromosomal Aberration Test in Human Lymphocytes with Carbonothioic Dihydrazide. (epa.gov)
Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. (medscape.com)
As a major form of genomic instability, chromosomal instability comprises aberrant chromosome numbers (i.e., aneuploidy or polyploidy) and structural changes in chromosomes. (frontiersin.org)

Unannotated, nonpolyadenylated transcripts comprise the major proportion of the transcriptional output of the human genome. (semanticscholar.org)
Identification of P element mutations within or near newly identified 5′ exons provides a strategy for mapping previously uncharacterized mutations to their respective genes and indicates that at least 85% of the fly genome is transcribed and processed into mature transcripts representing at least 30% ofThe fly genome. (semanticscholar.org)
The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). (emedicinehealth.com)
The actual protein-coding genes account for less than 5% of the human genome. (emedicinehealth.com)
Some researchers include mitochondrial DNA as part of the human genome. (emedicinehealth.com)
and up through the completion of the Human Genome project, this Short History is written in the author's characteristic clear and personal style, which appeals to geneticists and to all those interested in the story of human genetics. (oup.com)
Genome sequence of a 45,000-year-old modern human from western Siberia. (nature.com)
A tool called Saluki, trained with mouse and human messenger RNA data, appears to improve mRNA half-life predictions by taking RNA and genetic features into account, a Genome Biology paper reports. (genomeweb.com)
Its genome is fully sequenced and the disease related genes show appreciable homology to those of humans. (leica-microsystems.com)
In the human genome, more than 360000 potentially G4-forming sequences can be found. (brc.hu)
These 40 sequence classes, developed using nearly 22,000 data sets from previous studies studying genome regulation, cover more than 97% of the human genome. (technologynetworks.com)
At the beginning of this series, we observed that many of the topics covered in Adam and the Genome are not relevant to whether Adam and Eve existed as the progenitors of the human race. (evolutionnews.org)
For more details, please see " Adam and the Genome and Human-Ape Genetic Similarity . (evolutionnews.org)
For more details, please see " Adam and the Genome and Human Genetic Diversity ," " Adam and the Genome and Citation Bluffing ," and " Adam and the Genome and 'Predetermined Conclusions' . (evolutionnews.org)
Accession numbers for chromosome 1 and chromosome 2 for each of the four strains, as well as genome annotation features, are provided in Table 1 . (jgenomics.com)

Chromosome 14 spans more than 107 million DNA building blocks (base pairs) and represents about 3.5 percent of the total DNA in cells. (medlineplus.gov)
A rearrangement (translocation) that moves genetic material from one of several other chromosomes to a region of chromosome 14 called 14q32 occurs in 20 to 60 percent of cases of multiple myeloma, which is a cancer arising from plasma cells, a type of white blood cell. (medlineplus.gov)
People with ring chromosome 14 syndrome have one copy of this abnormal chromosome in some or all of their cells. (medlineplus.gov)
Alternately, seizures might result from instability of the ring chromosome in some cells. (medlineplus.gov)
Chromosome 15 spans about 106 million base pairs (the building material of DNA ) and represents between 3% and 3.5% of the total DNA in cells . (bionity.com)
Human primary pleural mesothelial cells obtained from noncancerous donors by pleural effusion were cultured and treated with 0 to 6.67 micrograms per square centimeter (microg/cm2) amosite (12172735) asbestos. (cdc.gov)
Amosite at 0.14 and 0.27microg/cm2 induced a significant incidence of chromosome aberrations, mostly chromatid breaks and gaps, in mesothelial cells. (cdc.gov)
Altered cells had a modal chromosome number of 45 and lacked the Y- chromosome. (cdc.gov)
The authors conclude that amosite and glass fibers induce chromosome aberrations in human pleural mesothelial cells. (cdc.gov)
human cancer cells. (researchgate.net)
92% were tropic HIV-1 strains into target cells [ 5-7 ]. (who.int)
Biotech Europe GmbH, Freiburg, Germa- cation of the virus in cells heterozygous for ny) was used to extract genomic DNA the mutation proceeded at an intermediate from white blood cells following the lysis rate [ 5 ]. (who.int)
Chromosome Aberration Test using Cultured Mammalian Cells. (epa.gov)
Cobalt Borate Neodecanoate Complex: In Vitro Mammalian Chromosome Aberration Test in Chinese Hamster Ovary Cells. (epa.gov)
Cobalt Naphthenate: In Vitro Mammalian Chromosome Aberration Test in Chinese Hamster Ovary Cells. (epa.gov)
H-26232: In Vitro Mammalian Chromosome Aberration Test in Chinese Hamster Ovary Cells. (epa.gov)
In Vitro Chromosome Aberration Test in Chinese Hamster V79 Cells with (Confidential). (epa.gov)
In Vitro Chromosome Aberration Test in Chinese Hamster V79 Cells, T0070869. (epa.gov)
Exfoliated buccal cells of 4-to-12 year-old children, who were on some type of dental treatment, were collected either before or after the treatment ending. (bvsalud.org)
For this reason they are not included in the daughter cells' nuclei, thus remaining in the cytoplasm of interphase cells [5, 10, 16, 35]. (bvsalud.org)
Recently published research papers are now demonstrating how Human cells can rewrite RNA sequences into DNA Chromosomes. (ethealing.com)
The nanotube bundles are similar to the potential of nanotubes to induce genetic damage size of microtubules that form the mitotic spindle in normal lung cells, cultured primary and immor- and may be incorporated into the mitotic spindle talized human airway epithelial cells were apparatus. (cdc.gov)
This developmental program requires a delicate level of regulation to ensure that the correct number of cells reaches their final destination [ 3 - 5 ]. (plos.org)
In individuals with Cat-Eye syndrome, the short arm and a small region of the long arm of chromosome 22 (i.e., 22pter-22q11) are present four times (partial tetrasomy ) rather than twice in cells of the body. (chromodisorder.org)
5. In 2001, France and Germany requested the United Nations General Assembly to develop international conventions on human reproductive cloning, therapeutic cloning and research on stem cells. (who.int)
It is expressed on hematopoietic cells include lymphocytes 1,2 , mast cells 3 , neutrophils 2 , eosinophils 4 , NK cells 5 , monocytes 1,2 , some dendritic cells 6 ,some hematopoietic progenitors 7 and macrophages 8 . (hcdm.org)
major histocompatibility complex: (in mammals) a group of genes located next to or near each other on a specific chromosome, the sixth in humans, most of which encode glycoproteins of highly variable shapes that are expressed on almost all cell surfaces: it plays the dominant role in distinguishing one individual's cells from another's and in determining the histocompatibility of any two individuals. (en-academic.com)
Cells were incubated at 37C in 5% CO2 and harvested at 60 to 70% confluence. (irjs.info)
Robert describes part-human animals, otherwise known as chimeras, as those resulting from the intentional combination of human and nonhuman cells, tissues, or organs at any stage of development. (asu.edu)

functional nature of telomere-like sequences scattered around the internal regions of human chromosomes. (researchgate.net)
The sequences AJ416470 and AJ416471 matched exons 6 and 7 of the human cDNA sequence (NM_004326) with identities of 100% (54/54) and 96% (375/390), respectively. (usda.gov)
We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26 worldwide populations by the 1000 Genomes Project. (nature.com)
Telomeres are random repeat DNA sequences that form a protective cap in the ends of eukaryotic chromosomes. (exposed-skin-care.net)
This strongly suggests functional reasons for the amino acid sequences of human and ape proteins, and shows their similarities can be explained as being due to functional requirements. (evolutionnews.org)
4, 5 Complex cDNA probes can cross-hybridize to related sequences, and low-intensity hybridization indicators are challenging to interpret. (irjs.info)

This review provides an overview of the genetics of SRS, and focuses on the newly defined candidate regions on chromosome 7. (bmj.com)
Human Genetics , 1 (5), 479-482. (mssm.edu)
Hirschhorn, K , Cooper, HL & Firschein, IL 1965, ' Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion ', Human Genetics , vol. 1, no. 5, pp. 479-482. (mssm.edu)
An eminent geneticist, veteran author, OMMG Series Editor, and noted archivist, Peter Harper presents a lively accoutn of how our ideas and knowledge about human genetics have developed over the past century from the perspective of someone inside the field with a deep interest in its historical aspects. (oup.com)
An eminent geneticist, veteran author, OMMG Series Editor, and noted archivist, Peter Harper presents a lively account of how our ideas and knowledge about human genetics have developed over the past century from the perspective of someone inside the field with a deep interest in its historical aspects. (oup.com)
By applying Sei to human genetics data, the researchers were able to characterize the regulatory architecture of 47 traits and diseases recorded in the UK Biobank database and explain how mutations in regulatory elements cause specific pathologies. (technologynetworks.com)
Human molecular genetics 2008 Apr 17 (7): 929-35. (cdc.gov)
Human genetics 2002 Oct 111 (4-5): 443-51. (cdc.gov)
New research study ongoing directed by Dr. Thomas Liehr of the Jena Institute of Human Genetics in Jena, Germany to learn if diagnosing Cat-Eye syndrome via visual diagnosis is possible. (chromodisorder.org)
A new research project is currently underway at the Institute of Human Genetics in Jena with regard to Cat-Eye syndrome and we ask for your help. (chromodisorder.org)
Nature Genetics, 43 (4). (sussex.ac.uk)

4 ). Multilocus sequence typing (MLST) PCR was performed according to Enright et al. (cdc.gov)
5 ). Sequence reactions were conducted by using BigDye fluorescent terminators (Applied Biosystems, Foster City, CA, USA). (cdc.gov)
Amino acid sequence alignments and phylogenetic analysis for the 15 known members of the human K 2P family were generated as described in the legend for Fig. 1 of "LIII. (aspetjournals.org)
Despite the absence of any sequence similarity to any other known protein family, the topology of helices 3-5 is similar to that of a number of DNA binding proteins, with helices 4 and 5 constituting a helix-turn-helix motif. (rcsb.org)
The consensus sequence which can potentially form a G quadruplex structure is (G3-5-N1-7)4. (brc.hu)
In May, Dr. Zhou reported the development of a different tool, called Orca, which predicts the 3D architecture of DNA in chromosomes based on its sequence. (technologynetworks.com)
This protein has the identical amino acid coding (sequence) found in Human DNA-Chromosome 8. (ethealing.com)

The biological endpoint of interest was the occurrence of dicentric chromosomes in human lymphocytes (see Figure 1). (ptb.de)
After that, the frequency of the occurrence of dicentric chromosomes in human lymphocytes was determined 1) . (ptb.de)
Chromosome Aberration Test in Human Lymphocytes In Vitro. (epa.gov)
In Vitro Mammalian Chromosome Aberration Test in Human Lymphocytes. (epa.gov)

2018 Jan 4. (medscape.com)

J Cell Biol (2002) 156 (5): 775-781. (rupress.org)
This resulted in 3.1 mil- for primary human immunodeficiency vi- lion deaths in 2002. (who.int)
Byus (1984) y Paulraj (2002) reportaron una disminución de la actividad de la proteína quinasa en las ratas después de la exposición a la radiación de la RF. (rfcom.ca)
Varios estudios han mostrado un aumento en los niveles de ODC después de la exposición a un campo EM (Byus, 1997, Paulraj, 2002). (rfcom.ca)

In human fibroblasts, effective doses for inducing chromosome aberrations were 2.67 and 6.67microg/cm2. (cdc.gov)
In passage experiments, amosite and glass fibers induced chromosome aberrations. (cdc.gov)

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
Two copies of chromosome 14, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
Chromosome 15 is one of the 23 pairs of chromosomes in humans. (bionity.com)
These 46 chromosomes together contain over 3 billion base pairs of DNA that contain about 20,500 protein-coding genes. (emedicinehealth.com)
Common to all normal human centromeres are large amounts of alpha-satellite DNA, which is comprised of a family of diverged 'monomers' of around 171 base-pairs (bp) that have been amplified in multimeric groups (higher-order repeats) on different chromosomes to form chromosome-specific arrays typically megabases in length [ 15 - 17 ]. (biomedcentral.com)
Just more affordable baseline eGFRCKD-EPI was connected with shorter baseline telomere duration (9.1 [95% CI 1.2-16.9] fewer base pairs for each 5 ml/min/1.73 m2 more affordable eGFRCKD-EPI). (exposed-skin-care.net)
Decrease baseline eGFRCKD-EPI (and all other actions of kidney function) expected more rapid telomere shortening (10.8 [95% CI 4.3-17.3] decrease in base pairs over 5 years for each and every 5 ml/min/1.73 m2 lesser eGFRCKD-EPI). (exposed-skin-care.net)
This group consists of chromosome pairs 21 and 22 and the Y chromosome. (bvsalud.org)
There are 23 pairs of chromosomes in the cell of human body. (solutionsclass.com)
Out of these, 22 pairs do not take part in sex-determination in human beings. (solutionsclass.com)
Sep 22, 2022 Telomere vesicles retained the Rad51 recombination factor that enabled telomere fusion with T-cell chromosome ends lengthening them by an average of 3,000 base pairs. (hilfenetzwerk-cic.de)

This is the first example of a transcriptional activator that accumulates transiently and reversibly on a chromosome-specific heterochromatic locus. (rupress.org)

Here we present a method to identify isoforms by their specific signatures on chromosomes including both exons and junctions. (scirp.org)

These key patients define two separate candidate regions for SRS on both the p and q arms of chromosome 7. (bmj.com)
This review focuses on the influence of genomic imprinting in SRS and recent progress in defining two candidate SRS regions on both the p and q arms of chromosome 7. (bmj.com)

Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as causative in humans, accounting for 70% of all cases. (biomedcentral.com)
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. (medscape.com)

Students must apply to the Department of Biological Sciences in order to be admitted to year 4 (honours). (brocku.ca)
However, these assays are time-consuming, labor-intensive, and require large amounts INCB018424 biological activity of RNA ( 5 g total RNA). (irjs.info)
Both subclones were grown as monolayers on -irradiated (5000 rads) Swiss Mouse 3T3 fibroblast feeder layers in INCB018424 biological activity F-medium (3:1 F12 and Dulbeccos modified Eagles medium) with 5% fetal bovine serum (FBS). (irjs.info)
11 CaSki, a human cervical cancer cell collection, was obtained from American Type INCB018424 biological activity Culture Collection (Manassas, VA). CaSki monolayers were grown in RPMI-1640 medium with 10% FBS and 2.5 mmol/L L-glutamine. (irjs.info)

Both the 5' EndTag and 3' EndTag Nucleic Acid Labeling Systems enable the covalent attachment of a variety of fluorescent dyes, haptens, or affinity tags to the respective ends of a nucleic acid using thiol-specific chemistry. (vectorlabs.com)
T4 polynucleotide kinase transfers a thiophosphate from ATPγS to the 5' -OH group of the nucleic acid. (vectorlabs.com)

To address these models, we assayed formation of heterochromatin and euchromatin on de novo human artificial chromosomes containing alpha-satellite DNA. (biomedcentral.com)
Heterochromatin factors (histone H3 lysine 9 methylation and HP1α) were enriched on artificial chromosomes estimated to be larger than 3 Mb in size but depleted on those smaller than 3 Mb. (biomedcentral.com)
Heterochromatin-depleted artificial chromosomes replicated in early S phase whereas heterochromatin-enriched artificial chromosomes replicated in mid to late S phase. (biomedcentral.com)
Centromere regions on human artificial chromosomes and host chromosomes have similar amounts of CenH3 but exhibit highly varying degrees of heterochromatin, suggesting that only a small amount of heterochromatin may be required for centromere function. (biomedcentral.com)
The earlier replication of the heterochromatin-depleted artificial chromosomes suggests that replication late in S phase is not a requirement for centromere function. (biomedcentral.com)

EMBO Journal, 30 (5). (sussex.ac.uk)

Can be combined with "metabolic processes" =5. (kenyon.edu)
Homogenates of rat (or human) liver (S9 mix) were added directly to petri plates to evaluate the need for metabolic activation. (europa.eu)

cDNA cloning, expression analysis, chromosome localization and characterization of the recombinant protein. (nih.gov)

2017 Dec. 175 (4):450-64. (medscape.com)
2017 Dec. 175 (4):407-16. (medscape.com)

Blast-1 possesses a glycosyl-phosphatidylinositol (GPI) membrane anchor, is related to LFA-3 and OX-45, and maps to chromosome 1q21-23. (hcdm.org)

Researchers are working to identify genes on chromosome 15 that are responsible for the characteristic features of Prader-Willi syndrome. (bionity.com)

1998;40:580-5. (hcdm.org)
Kwee y Raskmark (1998), sin embargo, encontraron una disminución en el crecimiento celular de las células amnióticas epiteliales humanas expuestas a campos de microonda de 960 MHz, y Capri (2004b) también encontró una ligera disminución en la proliferación celular después de la exposición a la radiofrecuencia de 900 MHz. (rfcom.ca)

Three potentially functional classes of RNAs have been identified, two of which are syntenically conserved and correlate with the expression state of protein-coding genes and support a highly interleaved organization of the human transcriptome. (semanticscholar.org)
The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. (nih.gov)
All "Vaccine" Injections contain the spiked protein which has the same sequencing (coding) as Chromosome 8, VMAT2. (ethealing.com)
Lck 5 , fyn 5 , LAT 6 and G protein subunits. (hcdm.org)
A soluble multimeric recombinant CD2 protein identifies CD48 as a low affinity ligand for human CD2: divergence of CD2 ligands during the evolution of humans and mice. (hcdm.org)

A rare condition known as terminal deletion 14 syndrome causes signs and symptoms similar to those of ring chromosome 14 syndrome. (medlineplus.gov)
Terminal deletion 14 syndrome is caused by the loss of several genes at the end (terminus) of the long (q) arm of chromosome 14. (medlineplus.gov)
In addition, some people with terminal deletion 14 syndrome have a loss or gain of genetic material from another chromosome. (medlineplus.gov)
In most cases (about 70%), people with Angelman syndrome have a deletion in the maternal copy of chromosome 15. (bionity.com)
Therefore, a person with a deletion in the paternal chromosome 15 will have no active genes in this region. (bionity.com)

Figure 1 : Human lymphocyte in the first cell division cycle in vitro (the arrow points at a dicentric chromosome). (ptb.de)
In Vitro Chromosome Aberration Test of (Confidential) using Mammalian Cultured Cell. (epa.gov)
In Vitro Mammalian Chromosome Aberration Study. (epa.gov)
In vitro Mammalian Chromosome Aberration Test for 1-Chlorododecane. (epa.gov)
In Vitro Mammalian Chromosome Aberration Test with Dimethylsilanediol (DMSD). (epa.gov)

For combined BIOL/CHEM majors, CHEM 3P40 is strongly recommended for most projects in CHEM 4F90, 4F91 and should be taken in year 3 by students intending to proceed to a year 4 thesis in CHEM. (brocku.ca)
For combined BIOL/CHEM majors, honours students who elect BIOL 4F90, 4F91 and who have taken only the minimum five credits in CHEM in years 1 through 3 may experience difficulty in obtaining the necessary two additional CHEM credits in year 4. (brocku.ca)

Association of dietary intake of n-3 polyunsaturated fatty acids with breast cancer risk in pre- and postmenopausal Chinese women - Menopause 2022 Jul 26 - 'Higher intake of marine n-3 PUFAs and total n-3 PUFAs was associated with lower risk of breast cancer, with adjusted OR quartile 4 v.1 (95% confidence intervals) of 0.68 (0.55-0.84) and 0.56 (0.42-0.75), respectively. (qualitycounts.com)

1993 Jan;90(5):572-4. (nih.gov)

Identification of novel DNA hypermethylation of the adenylate kinase 5 promoter in colorectal adenocarcinoma. (nih.gov)

1] The part of Rivaroxaban telomeres is to prevent chromosome ends from being identified as double strand breaks in DNA thus limiting chromosome shortening and recombination. (exposed-skin-care.net)
Telomeres are small structures that protect the ends of your chromosomes. (hilfenetzwerk-cic.de)

There is a variety of blood groups and antigens present in different human bodies, which depend on either polymorphism or inheritance. (cram.com)

Failure in the function of these elements can lead to genomic instability, with often catastrophic consequences in humans such as miscarriage, congenital birth defects or cancer. (biomedcentral.com)

People normally have two copies of this chromosome in each cell, one copy from each parent. (bionity.com)
Sites of transcription of polyadenylated and nonpolyadenylated RNAs for 10 human chromosomes were mapped at 5-base pair resolution in eight cell lines. (semanticscholar.org)
The cell line was growing as monolayer and showed a complex karyotype with chromosome numbers ranging from 30 to 140/metaphase. (elsevier.com)
Knockdown of the tumor suppressor phosphatase Phosphatase and tensin homologue deleted on chromosome 10 ( PTEN ) with shRNA in three estrogen receptor (ER)-positive breast cancer cell lines resulted in increased phosphatidylinositol-3 kinase (PI3K) and AKT activities, resistance to tamoxifen and fulvestrant, and hormone-independent growth. (aacrjournals.org)
4. Cell structure= Interesting features of cell structure. (kenyon.edu)
2016. A unified encyclopedia of human functional elements through fully automated annotation of 164 human cell types. (washington.edu)
Such structures are a result of chromosome fragments or entire acentric chromosomes which are lost during a cell division. (bvsalud.org)
1) the ovum contributes one chromosome of each pair to the fertilized cell (2) When a human sperm fertilizes a human ovum , a single cell is created with the potential to grow into a human person. (english-kannada.com)
4) As in most other animals, the sperm mitochondria penetrate the cell membrane of the ovum at fertilization. (english-kannada.com)
The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. (solutionsclass.com)
1986), a human cell micronucleus assay (Budinsky et al. (europa.eu)
Evidence in humans and animal models suggests that IgE-mediated mast cell activation gives rise to both the acute and late-phase responses. (jci.org)
Case Report Hpv high risk not 16 18 detected, Human papillomavirus 52 positive squamous cell carcinoma of the conjunctiva Hpv high risk with 16 and 18 genotyping. (info-tecuci.ro)
When both parents have sickle cell trait, they have a 25% (1 in 4) chance of having a baby with sickle cell disease with each pregnancy. (medlineplus.gov)

Chromosomes, Human, Pair 4" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (musc.edu)

in the members of the other group, which is not well-characterized in details yet, the structures are located in the intrachromosomal regions of the chromosomes. (brc.hu)

Jobling, M.A. & Tyler-Smith, C. The human Y chromosome: an evolutionary marker comes of age. (nature.com)
and (5) spirituality provides an evolutionary advantage by providing individuals with an innate sense of optimism. (ethealing.com)

The intracellular pyrimidine 5'-nucleotidase NT5C3A is a negative epigenetic factor in interferon and cytokine signaling. (nih.gov)

We examined 1,098 confirmed MRSA samples from human patients and found that 21 were MRSA ST398. (cdc.gov)
From January 2006 through May 2008, a total of 21 laboratories and/or hospitals in Upper Austria (project MRSA-Registry Upper Austria) sent us 1,210 suspected MRSA primary isolates consecutively collected from human patients. (cdc.gov)
Although MRSA ST398 is suspected of being able to acquire virulence factor genes ( 1 ), only 5 patients were infected, whereas 15 were colonized. (cdc.gov)
However, only chromosomes 7 and 17 have been consistently implicated in patients with a strict clinical diagnosis of SRS. (bmj.com)
Maternal uniparental disomy for chromosome 7 (mUPD(7)) occurs in up to 10% of SRS patients, with disruption of genomic imprinting underlying the disease status in these cases. (bmj.com)
3 4 Wollmann et al 3 additionally reviewed the growth characteristics of 386 SRS patients. (bmj.com)
3 4 Low birth weight, short stature resulting from postnatal growth retardation, and a characteristic, small, triangular face were observed in the vast majority of patients. (bmj.com)
3-5 However, none of these traits is absolute and there are a small number of diagnosed SRS patients in whom a major feature is absent, but several of the minor ones are present. (bmj.com)
Patients who survive cancer treatment with alkylating agents, with or without radiotherapy, have a high risk of developing MDS or secondary acute leukemia 5-7 years after the exposure. (medscape.com)
Down-regulation of adenylate kinase 5 in temporal lobe epilepsy patients and rat model. (nih.gov)
Of the 24 patients with carcinomas of the ampulla described by Mori et al, 5 had stage I disease (20.8%), 11 had stage II disease (45.8%), 7 had stage III disease (29.2%), and 1 had stage IV disease (4.2%) at diagnosis. (medscape.com)
4 o The survival rate of patients with this syndrome decreases with increasing dose. (cdc.gov)

There exist shared "nonfunctional" pseudogenes between humans and chimps and other organisms. (evolutionnews.org)

Donate now to increase awareness and research into chromosome disorders. (chromodisorder.org)
Physicians, genetic counselors, therapists and other healthcare professionals, register now to help us learn more about rare chromosome disorders: the associated symptoms, new research and evolving treatments. (chromodisorder.org)
Help us in our efforts to raise awareness of rare chromosome disorders by visiting our online store. (chromodisorder.org)
Here the genetic factors can influence the development of a variety of neurologic disorders that are typically inherited from parents through genes and chromosomes. (nanavatimaxhospital.org)

A) in NT5C3A associated with hereditary pyrimidine 5'-nucleotidase deficiency: two cases report and literature review]. (nih.gov)

This download corneal, the latest by John Case( deterioration the uncertainty and Vol. Ceratitis dL, Jim and Carolyn Hougan), is a online out of the normal used to the epigenetic 5 interfaces. (oldandelegant.com)

The solution structure of the human barrier-to-autointegration factor, BAF, a 21,000 Mr dimer, has been solved by NMR, including extensive use of dipolar couplings which provide a priori long range structural information. (rcsb.org)

Chromosome 14 likely contains 800 to 900 genes that provide instructions for making proteins. (medlineplus.gov)
Only about 1% of human DNA encodes instructions for making proteins. (technologynetworks.com)
Previous studies have catalogued libraries of mutant mice that lack specific classes of proteins 3 or exhibit behavioural phenotypes 4 . (nature.com)
An H/O antigen is generated in all humans and it consists a of a specific carbohydrate group that is added to proteins. (cram.com)

Sequencing Y chromosomes resolves discrepancy in time to common ancestor of males versus females. (nature.com)

Replication timing studies revealed that the replication timing of artificial chromosomes was heterogeneous. (biomedcentral.com)

Materials suitable to perform 10 end labeling reactions of up to 0.6 nmols of 5' ends (e.g. about 5 μg of a 25 base oligo) per reaction. (vectorlabs.com)

General Assembly the adoption of a declaration on human cloning by which Member States were called upon to prohibit all forms of human cloning inasmuch as they are incompatible with human dignity and the protection of human life. (who.int)

Genital Warts Implicarea genomului papiloma virusului uman hpv în oncogeneza cancerului cervical The cause of cervical cancer is the human papillomavirus HPV. (info-tecuci.ro)
The most important risk factor in the ethiology of cervical cancer is the persistent infection with a high-risk strain of human papillomavirus. (info-tecuci.ro)
Cervical cancer may be eliminated as a public health problem by vaccination against human papillomavirus (HPV) infection, even in low-income countries where cervical cancer is the major cancer type. (who.int)

5 doses were used with 3 plates per dose, up to 5000 µg/plate where possible. (europa.eu)

Regarding the infections, 4 cases were of minor clinical relevance, but 1 case (isolate no. 3332) showed progression of major clinical relevance: a 64-year-old pig farmer had received a prosthetic knee, and postoperative joint empyema with MRSA ST398 developed soon afterwards. (cdc.gov)
Clinical studies possess reported that individuals with end-stage renal disease (ESRD) may have shorter telomere size and accelerated telomere shortening compared with the general human population. (exposed-skin-care.net)
This orexin treatment strategy should also be tested on primates with septic shock before planning any clinical trials in humans. (elifesciences.org)
Conclusion Breast cancer biomarker analysis with STRAT4 has the potential to reduce the required human and capital resources in subSaharan African laboratories, leading to improved treatment selection and better clinical outcomes. (bvsalud.org)

It is primarily caused by trisomy of chromosome 21 (see the image below), which gives rise to multiple systemic complications as part of the syndrome. (medscape.com)

Anatomy66

Organisms12

Diseases29

Chemicals and Drugs28

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Psychiatry and Psychology1

Phenomena and Processes170

Disciplines and Occupations1

Technology, Industry, Agriculture2

Information Science4

Health Care1

Renal function studies in an infant with 4p (-) syndrome. (1/114)

Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. (2/114)

Genetic analysis of the cell surface: association of human chromosome 5 with sensitivity to diphtheria toxin in mouse-human somatic cell hybrids. (3/114)

Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone. (4/114)

A new hematologic syndrome with a distinct karyotype: the 5 q--chromosome. (5/114)

Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'. (6/114)

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring. (7/114)

Chromosomal banding patterns in acute nonlymphocytic leukemia. (8/114)

Chromosomes

Chromosome Mapping

Chromosome Banding

X Chromosome

Chromosome Aberrations

Sex Chromosomes

Chromosomes, Human, Pair 1

Chromosomes, Human

Chromosomes, Bacterial

Chromosome Segregation

Chromosomes, Human, Pair 7

Chromosomes, Human, Pair 11

Chromosomes, Human, Pair 17

Chromosomes, Human, Pair 6

Chromosome Deletion

Chromosomes, Human, Pair 9

Chromosomes, Human, Pair 21

Chromosomes, Plant

Chromosomes, Fungal

Chromosomes, Human, 6-12 and X

Chromosomes, Human, Pair 2

Chromosomes, Human, Pair 16

Chromosomes, Human, Pair 22

Chromosome Pairing

Chromosomes, Mammalian

Chromosomes, Human, Pair 13

Chromosomes, Human, Pair 4

Chromosomes, Human, Pair 10

Chromosomes, Human, Y

Chromosomes, Human, Pair 8

Chromosomes, Human, Pair 19

Chromosome Disorders

Chromosomes, Artificial, Bacterial

Chromosomes, Human, X

Chromosomes, Human, 1-3

Chromosomes, Human, Pair 12

Chromosome Painting

Chromosomes, Human, Pair 5

Chromosomes, Human, Pair 15

Karyotyping

Chromosomes, Human, Pair 14

Chromosomes, Human, Pair 18

Chromosomes, Human, 16-18

In Situ Hybridization, Fluorescence

Chromosomes, Human, Pair 20

Chromosomes, Artificial, Yeast

Chromosomes, Human, 13-15

Genetic Linkage

Chromosome Breakage

Chromosomes, Human, 21-22 and Y

Ring Chromosomes

Chromosome Inversion

Genetic Markers

Chromosome Positioning

Chromosomes, Human, 4-5

Molecular Sequence Data

X Chromosome Inactivation

Centromere

Base Sequence

Chromosomes, Insect

Translocation, Genetic

Meiosis

Hybrid Cells

Chromosome Structures

Chromosomes, Human, 19-20

Aneuploidy

Metaphase

Mitosis

Recombination, Genetic

Lod Score

Pedigree

Crosses, Genetic

Mutation

Microsatellite Repeats

Phenotype

Alleles

Cloning, Molecular

Trisomy

Nondisjunction, Genetic

Chromosomes, Artificial, Human