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 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)
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
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 large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
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.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
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.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
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 sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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.
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.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
Structures which are contained in or part of CHROMOSOMES.
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.
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.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
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.
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.
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 male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
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.
A subclass of purinergic P2Y receptors that have a preference for ATP and ADP. The activated P2Y1 receptor signals through the G-PROTEIN-coupled activation of PHOSPHOLIPASE C and mobilization of intracellular CALCIUM.
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 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 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 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.
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.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
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.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
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.
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.
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.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
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).
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.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
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.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
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)
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 process by which a DNA molecule is duplicated.
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 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).
Genotypic differences observed among individuals in a population.
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.
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.
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.
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 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.
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)
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
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.
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).
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.)
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.
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.
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.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Genes that are located on the X CHROMOSOME.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
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.
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.
Established cell cultures that have the potential to propagate indefinitely.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
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 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 latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Genes that influence the PHENOTYPE only in the homozygous state.
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).
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.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
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)
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
An individual in which both alleles at a given locus are identical.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
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.
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.
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.
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.
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)
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.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
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)
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
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.
The functional hereditary units of BACTERIA.
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.
Genes that are located on the Y CHROMOSOME.
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)
DNA present in neoplastic tissue.
The genetic complement of a plant (PLANTS) as represented in its DNA.
A characteristic symptom complex.
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.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
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.
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.
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.
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.
The mechanisms by which the SEX of an individual's GONADS are fixed.
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.
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.
Deoxyribonucleic acid that makes up the genetic material of plants.
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.
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.
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.
Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
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 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.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
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 case of ring chromosome. (1/236)

A girl with a G22 ring chromosome is described. There are few physical abnormalities, performance quotient is in the low normal range but verbal skills are much retarded.  (+info)

Interacting populations affecting proliferation of leukemic cells in culture. (2/236)

Peripheral blood cells from three patients with acute leukemic have been studied using a suspension culture method previously described.1 Cytogenetic studies in two of the patients permitted the identification of the proliferating cells in the cultures as being derived from a leukemic population. Cell separation studies using velocity sedimentation supported the concept that growth of the leukemic cells in culture is dependent on an interaction between two populations of leukemic cells.  (+info)

De novo appearance of the ph-1 chromosome in a previously monosomic bone marrow (45,XX,-6): conversion of a myeloproliferative disorder to acute myelogenous leukemia. (3/236)

Bone marrow examination of a patient with a myeloproliferative disorder revealed monosomy for chromosome No. 6 (45,XX,-6). Two months later, during blastic crisis, reinvestigation of the bone marrow showed the presence of the Ph-1 chromosome in the previously aneuploid cell line (45,XX,-6,-22,+Ph-1). This case differs from those previously published in that the Ph-1 chromosome appeared de novo during the development of frank acute myelogenous leukemia.  (+info)

Removal of abnormal clone of leukaemic cells by splenectomy. (4/236)

A patient with chronic myelocytic leukaemia positive for the Philadelphia (Ph-1) chromosome underwent splenectomy in the "terminal phase" of his disease. Chromosomal analysis of a marrow aspirate obtained during the operation showed nothing abnormal. Material from the spleen, however, showed the absence of a C chromosome and the presence of a "marker" chromosome in all metaphases examined. The patient did well for almost three years after splenectomy, and serial cytogenetic studies of marrow specimens showed the Ph-1 chromosome to be the only significant abnormality. Six months before death from recurrent blastic transformation aneuploidy was found in a marrow specimen. Subsequently additional abnormalities, including cells with two Ph-1 chromosomes, were detected. The karyotypic abnormalities found in the splenic specimen, however, never recurred.  (+info)

Antibody responses to leukemia-associated antigens during immunotherapy of chronic myelocytic leukemia. (5/236)

We have studied immunologic reactivity to leukemia-associated antigens in patients with chronic myelocytic leukemia (CML) treated with chemotherapy and adjunctive immunotherapy. All patients were immunologically competent as measured by skin test reactivity to dinitrochlorobenzene. Immunotherapy consisted of allogeneic irradiated leukemic myeloblasts injected intradermally, with BCG vaccine (Research Foundation, Chicago, Ill.) given by multiple puncture at the same site. 10(9) cells plus BCG were given weekly for 4 wk, and 10(8) cells plus BCG were given at monthly intervals thereafter. Eight patients judged clinically to be in the stable phase of their disease developed circulating antibody against the immunizing blast cells demonstrable by cytotoxicity and immunofluorescence assays. The antibody also showed reactivity against a panel of myeloblasts (12 paients) but not against the corresponding remission lymphocytes (five patients) or normal lymphocytes (20 donors). In two cases the antibody showed reactivity against the patient's own leukemic blasts. Seven of these eight patients have maintained a steady clinical course ranging from 20 to 40 mo, while one entered the blastic phase and died. Six patients were judged to be in the aggressive phase of CML because of progressive leukocytosis and splenomegaly or increasing myeloblastosis; five died an average of 16 mo after diagnosis. Humoral antibodies were not detected in these patients after repeated courses of BCG and allogeneic leukemic cells. We conclude that specific active immunotherapy of patients with CML can abet the production of humoral antibody against blast cell antigens and that this response may be impaired during the aggressive phase of the disease.  (+info)

Chronic myelogenous leukemia presenting in the blastic phase and its association with a 45 XO Ph1 karyotype. (6/236)

A 58-yr-old male patient presented in the blastic phase of chronic myelogenous leukemia (CML). Cytogenetic studies revealed a 45 XO Ph1 chromosome pattern in bone marrow cells during a short remission and again in the blastic phase of the disease. The patient expired 8 mo following diagnosis. The blastic phase of CML can stimulate acute myelogenous leukemia (AML) clinically and hematologically; CML can be differentiated by the presence of the Ph1 chromosome and the stigmata of CML. Absence of the Y chromosome from the bone marrow in CML is a recently described finding. Previous reports indicating the prevention of the blastic phase in patients with this karyotype could not be confirmed by our or other recently reported cases.  (+info)

Discordant patterns of chromosome changes and myeloblast proliferation during the terminal phase of chronic myeloid leukemia. (7/236)

A patient with Ph1 positive chronic myeloid leukemia (CML) developed blastic transformation which by morphologic criteria appeared to be localized to the lymphatic system. Chromosome analysis at this time, however, revealed new chromosomal abnormalities in addition to the existing Ph1 in all tissues studied (lymph node, blood, and bone marrow) consisting primarily of extra chromosome numbers 19 and 9 and a second Ph1. Therapy resulted in clinical remission with significant decrease in the aneuploid cell lines. However, these reappeared with recurrence of the blast crisis. Colony formation in semisolid culture of blood and marrow cells at the time of initial blast crisis yielded growth patterns characteristic of CML. On recurrence of the blast crisis after therapy, growth patterns were characteristic of CML in blast crisis or acute myeloblastic leukemia even though blood and marrow still showed relatively low levels of myeloblasts and promyelocytes. Possible explanations are discussed for the disparity in distribution between morphologic and chromosomal abnormalities in this patient.  (+info)

Prognostic value of chromosomal findings in Ph1-positive chronic myelocytic leukemia. (8/236)

Chromosome examinations were performed on bone marrows from 88 patients with Ph1-positive chronic myelocytic leukemia (CML). As a group, Ph1-positive CML patients with some cytogenetically normal cells in the marrow survived much longer than those whithout such cells in their marrow. The survival for patients whose first bone marrow exhibited only metaphases with a Ph1 and other karyotypic abnormalities was significantly shorter than that for patients whose marrow exhibited only metaphases with a Ph1 and an otherwise normal karyotype or patients whose marrow contained both categories of cells. The shorter the interval between the diagnosis of CML and the first chromosome examination, the greater the frequency of karyotypically normal cells in the bone marrow. Karyotypic progression in CML was a common phenomenon, whereas a reversion was very rare. On the basis of the findings obtained, the early diagnosis and treatment of CML are indicated, both possibly being helped by the chromosomal findings in the marrow. Furthermore, a combination of the chromosomal data and the marrow cell differential may serve as an important prognostic index in CML.  (+info)

Chronic Myelocytic Leukemia (CML) - Epidemiology Forecast to 2025 Size and Share Published in 2017-09-20 Available for US$ 2750 at Researchmoz.us
Learn more about Chronic Myelocytic Leukemia at TriStar Southern Hills DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
CML progresses gradually. It is often slow growing for many years. Eventually, it may transform itself into acute myelogenous leukemia (AML). This is a more aggressive type of leukemia. It progresses much more rapidly and is more serious.. Cancer occurs when cells in the body become abnormal. They divide without control or order. Leukemia is cancer of the white blood cells and their parent cells. Leukemia cells do not function normally. They cannot do what normal blood cells do. In this case they can not fight infections. This means that the person is more likely to become infected with viruses or bacteria. The cancerous cells also overgrow the bone marrow. This forces other normal components, like platelets out. Platelets are needed to help the blood clot. As a results people with leukemia may bleed more easily.. ...
Chronic myeloid leukemia is the tumour that occurs in blood cells and bone marrow, which is the soft parts inside bones where blood cells are produced.
Buy obsolete Az Displays Inc. electronic parts from 4 Star Electronics an ISO 9001:2015 certified Az Displays Inc. distributor of displays and eee & hardware
SUMMARY. A patient with chronic granulocytic leukemia who was suspected of having a lymphoma of the spleen with subsequent leukemic extension to the peripheral blood, bone marrow, and central nervous system is presented. This case is compared with others previously reported in the literature, and the pathogenesis of concomitant myeloproliferative and lymphoproliferative disorders is discussed. ...
TY - JOUR. T1 - Prominent hematogone hyperplasia in BCR-ABL1-positive chronic myelogenous leukemia. T2 - Mimicking recurrent B-lymphoid blast crisis. AU - Horna, Pedro. AU - Pantazopoulos, Panagiotis. AU - Lancet, Jeffrey E.. AU - Moscinski, Lynn C.. AU - Zhang, Ling. PY - 2014/8. Y1 - 2014/8. UR - http://www.scopus.com/inward/record.url?scp=84904886239&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=84904886239&partnerID=8YFLogxK. U2 - 10.3109/10428194.2013.869330. DO - 10.3109/10428194.2013.869330. M3 - Letter. C2 - 24304373. AN - SCOPUS:84904886239. VL - 55. SP - 1952. EP - 1954. JO - Leukemia and Lymphoma. JF - Leukemia and Lymphoma. SN - 1042-8194. IS - 8. ER - ...
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
Most patients will develop mild to moderate adverse events or side effects early in tyrosine kinase inhibitor therapy, and most will resolve spontaneously or can be well-controlled.. Adverse events and side effects can be divided into four grades based on severity. Grade 1 would require no change in tyrosine kinase inhibitor therapy, however, may require specific treatment. Grade 2 would involve withholding therapy until severity decreases, or continuing therapy with treatment if symptoms decrease in severity with monitoring. If a Grade 2 side effect is recurrent, therapy dose reduction should be considered. Grade 3 should involve withholding therapy until severity decreases and then restarting at a lower dose or withholding till symptoms reach a grade 1 level or less and resume prior dosage. If there is no resolution or Grade 3 side effects are recurrent, the tyrosine kinase inhibitor should be changed. Grade 4 events should involve switching tyrosine kinase inhibitor therapy when ...
Pregnancy has been reported in patients with hematological malignancies, such as acute leukemia, Hodgkin and malignant lymphoma and chronic myelocytic leukemia. Only 12 cases of pregnancy occurring in patients with multiple myeloma (MM) have been rep
Brand Names Hydria®, Droxia (There may be other brand names for this medication) How is it Administered? Hydroxyurea is taken by mouth (as a capsule). What is it Used For? This drug is given to treat several kinds of cancer including melanoma, squamous cell carcinoma of head or neck, chronic myelocytic leukemia (CML), and recurrent, metastatic, or inoperable ovarian cancer. How Does it Work?
I continue to find reasons to be hopeful that one day, though probably not within my lifetime, medical researchers will overcome the challenges that thwart efforts to cure or at least contain most cancers, especially the more common ones. |p| My guarded optimism stems from the progress made in devising treatments for several less well-known malignancies. For many patients with cancers like chronic lymphoma, chronic myelocytic leukemia and now multiple myeloma, longevity lies in the ability of science to remain one step ahead of the malignancy by unraveling its genetic and molecular underpinnings and producing treatments tailored to counter them. |p|
Product name: Droxia. Active ingredient: Hydroxyurea. Description: Generic Droxia is used for treating skin cancer, cancer of the ovary or chronic myelocytic leukemia that is recurrent, has spread or cannot be helped with surgery. It may also be used with radiation to control skin cancers of the head and neck.. Similar Titles: Hydrea. Manufacturer: Baramhaj Chemicals. Place an order: Click here. Payment method: Visa / MasterCard / Western Union. Delivery Time: 5-7 business days by Courier Service or 10-21 business days by Standard International Airmail. Loyalty Program: USPS - Fast Delivery Shipping 1-4 day USA Best quality drugs Fast Shipping USA Professional packaging 100% guarantee on delivery Best prices in the market Discounts for returning customers FDA approved productas 35000+ satisfied customers. ...
Generic Droxia is used for treating skin cancer, cancer of the ovary or chronic myelocytic leukemia that is recurrent, has spread or cannot be helped with surgery. It may also be used with radiation to control skin cancers of the head and neck.. Generic Droxia (Hydroxyurea 500 Mg) # Trackable Fast Delivery @ Online shop. Online shopping like never before! Get the latest trends ruling the charts in WorldWide. With the most greatest range of pharmacy!
An extra chromosome also called trisomy can cause a wide range of developmental disorders. Learn about trisomy conditions in babies.
If youre looking for a top-quality, instant-favorite sweatshirt, youve come to the right place! Our Premium Hoodie is everything you could ask for: its warm
Basophils possess membrane bound IgE molecules, and immunological activation leads to a secretory process with cell degranulation and histamine release. Heterologous anti IgE, concanavaline A, and phytohaemagglutinin are potent non-cytotoxic releasing agents. They operate by a mechanism similar to that of immunological activation. Heavy water is not a histamine releasing inducer but it increases histamine release of the cells. We studied the histamine release reaction of leukaemic basophils in 10 patients and found a physiological response such as that previously reported with normal human basophils.. ...
Abstract: Findings from a longitudinal study of language acquisition in a group of autistic children are presented. Six autistic subjects and six children with Down syndrome, matched on age and MLU at the start of the study, were followed over a period of between 12 and 26 months. Language samples were collected in the childrens homes while they interacted with their mothers. Samples of 100 spontaneous child utterances from the transcripts were analyzed using the following measures: MLU, Index of Productive Syntax, lexical diversity, and form class distribution. The results indicate that the majority of these autistic children followed the same general developmental path as the Down syndrome children in this study, and normal children reported in the literature, in the acquisition of grammatical and lexical aspects of language, and confirm previous findings suggesting that autism does not involve a fundamental impairment in formal aspects of language.. A longitudinal study of language ...
If you have a beautiful new baby in your family diagnosed with Down syndrome, you may have questions and concerns about to find the best possible support and encouragement available for a wonderful quality of life, richness of experience, and opportunities to reach his or her full potential. - Welcoming Babies with Down Syndrome - Children with Special Needs at BellaOnline
Download this essay on Raising Downs Syndrome Child Impact on the Family Unit and 90,000+ more example essays written by professionals and your peers.
Objective:To study the effects of lentivirus mediated bcr/abl RNAi on the viability of K562cell line and prepare for the further study and clinic treatment.Met
The cases, bibliography and associated comments included in this website and database have been provided by experts worldwide and reviewed by voluntary editorial working groups. The data and information is not guaranteed to be complete or to be fully up to date at any particular moment and it reflects the knowledge and views of the experts participating, not those of the World Health Organisation or the Italian National Transplant Centre.. ...
A cobalamin-dependent N5-methyltetra-hydrofolate-homocysteine methyltransferase (methyl-transferase) was demonstrated in unfractioned extracts of human normal and leukemia leukocytes. Activity was substantially reduced in the absence of an added cobalamin derivative. Presumably, this residual activity reflects the endogeneous level of holoenzyme. Enzyme activity was notably higher in lymphoid cells than in myeloid cells. Thus, mean specific activities (+/-SD) were: chronic lymphocytic leukemia lymphocytes, 2.15+/-1.16; normal lymphocytes, 0.91+/-0.59; normal mature granulocytes, 0.15+/-0.10; chronic myelocytic leukemia granulocytes, barely detectable activity. Properties of leukocytes enzymes resembled those of methyltransferases previously studied in bacteria and other animal cells. Granulocytes and chronic myelocytic leukemia cells contain a factor or factors that inhibits Escherichia coli enzyme. The data suggest that the prominence of this cobalamin-dependent enzyme in lymphocytes and other ...
Developmental data from 612 patients with Downs syndrome have been collected over a period of 20 years from an outpatient clinic for mentally retarded children. Ss ages ranged from birth through 16 years, all being reared in their homes.. With higher percentages of children with Downs syndrome remaining in the home environment and eventually attending day care programs, questions naturally arise concerning the developmental expectations of such children. To answer some of these questions developmental information was abstracted from the clinical records and subjected to statistical analysis. These data include motor and language development and intellectual growth. Despite the limited sample developmental norms for children with Downs syndrome were established, which should prove useful in clinical evaluation.. ...
All children need to express themselves. There is no difference in a child who stutters/stammers and a child who does not. We should be good listeners and allow all children to learn to express their thoughts.
It was time for a routine 5 month ultra sound it was in January 2009 and we decided to take our 3 year old to meet his new sibling. It was an experience! He stole the show with his comments and enthusiasm he had everyone in the room laughing. We did not want to know the sex of the baby we loved the surprise. At the end the doctor lightly mentioned that she did not see a stomach bubble and would like to do another ultra sound in a month. Both my husband and I did not think much about this. I mentioned this to friends and they reassured me that if she is looking in a month it must be nothing to worry about. I did no research during this time which is unlike me but I just did not think it was a big deal. The ultra sound day came February 17, 2009 I told my husband not to come that it was nothing and that there was no worries besides I was feeling the baby move and it was very reassuring. In the waiting room I remember getting really excited that they had a 3-D ultra sound machine I really wanted ...
Mishra A, Tripathi K, Mohanty L, Pujari S. Philadelphia chromosome positive chronic myelogenous leukemia in a child: a case report. Indian J Hematol Blood Transfus. 2010 Sep;26(3):109-10. doi: 10.1007/s12288-010-0042-2. Epub 2010 Oct 2. PMID: 21886396; PMCID: PMC3002092 ...
Apo-Imatinib: Imatinib belongs to a family of medications called protein tyrosine kinase inhibitors. It is used to treat adults and children who have been newly diagnosed with Philadelphia chromosome positive chronic myeloid leukemia (Ph+ CML) in chronic phase. It works by affecting enzymes that play a role in certain cancer cells.
NAT Imatinib: Imatinib belongs to a family of medications called protein tyrosine kinase inhibitors. It is used to treat adults and children who have been newly diagnosed with Philadelphia chromosome positive chronic myeloid leukemia (Ph+ CML) in chronic phase. It works by affecting enzymes that play a role in certain cancer cells.
Co Imatinib: Imatinib belongs to a family of medications called protein tyrosine kinase inhibitors. It is used to treat adults and children who have been newly diagnosed with Philadelphia chromosome positive chronic myeloid leukemia (Ph+ CML) in chronic phase. It works by affecting enzymes that play a role in certain cancer cells.
Dasatinib is a targeted therapy used in the treatment of Philadelphia chromosome positive chronic myeloid leukemia and acute lymphocytic leukemia.
Nilotinib is used to treat a type of blood cancer called Philadelphia chromosome positive chronic myeloid leukemia (CML) in adults and children who are at least 1 year old. Nilotinib is usually given after other treatments have failed. Nilotinib may also be used for purposes not listed in this medication guide.
Trade Name: Cytosar-U®. For which conditions is this drug approved? Cytarabine is FDA approved in combination with other anticancer drugs for the treatment of acute myelogenous leukemia, acute lymphocytic leukemia, and the blast phase of chronic myelocytic leukemia. It is also indicated for intrathecal administration in the prevention and treatment of meningeal leukemia. It is important for patients to remember that physicians have the ability to prescribe medication for conditions other than those for which the drug has been approved by the FDA. Patients who have received a prescription of this drug for a condition other than which it is approved may wish to discuss this issue with their physician.. What is the mechanism of action? Cytarabine belongs to a group of drugs called antimetabolites. Cytarabine produces its anti-cancer effects by inhibiting the ability of a cell to produce DNA or repair DNA. By inhibiting the production and repair of DNA, cytarabine suppresses the ability of a cell ...
A new study in Clinical Epidemiology and Global Health features the Glivec®Patient Assistance Program (GIPAP) and reveals that chronic myelocytic leukemia (CML) is diagnosed at an earlier age in poorer populations than in more affluent populations. The study focused on Indias CML population to investigate other possible contributors to early age at onset. The team of authors include our very own South Asia Region Head Viji Venkatesh, and Max CEO Pat Garcia-Gonzalez, as well as Paul H. Levine, Kunal Ajmera, Brenna ONeill, Heather J. Hoffman. The study is only available to the public for a limited time so if you know a physician.... Read More ...
Know answer of objective question : In humans, Philadelphia chromosome formed by reciprocal translocation between chromosomes. Answer this multiple choice objective question and get explanation and result.It is provided by OnlineTyari in English
Video presentation: Down Syndrome - A Picture is Worth a Thousand Words. Rosa Rocha discusses day-to-day challenges, realities, and rewards of raising a Down Syndrome child, as well as sources of information and support.
The creators of this short film, which features three real-life kids and their friends, convey the significance better than I can. So Ill just share a part of their description with you: This film identifies how to handle and accommodate differences while celebrating the many similarities our friends with Down syndrome have with their peers.
Generic Hydrea (Hydroxyurea) is often used to treat cases of chronic ovarian cancer, myelocytic leukemia, melanoma and squamous cell cancer in the head and neck. Generic Hydrea may also be used to ...
And the answer Ive come up with is that I believed everything to be perfect and fine because it was. The initial shock of her diagnosis immediately after birth shook that belief hard. I thought that I was so wrong to have naively believed everything was perfect. But now I know the truth: that I knew her already even in those early months inside, when the secret of her extra chromosome was still hidden, and that I innately knew that she was and is perfect just as she is. And as nice as it is to re-discover this truth about Cora, its also nice to discover that I knew it all along ...
Play online games for down syndrome children games for free on PlayAllFreeOnlineGames.com, the largest source of free Games For Down Syndrome Children games, girl games. Play free games for Boys, Girls & Kids
My son has been a fan of baseball since he was a toddler. Many other children and teens with Down syndrome love the game, just like their mainstream peers. - Baseball Stories - Down Syndrome - Children with Special Needs at BellaOnline
Chronic myelogenous leukemia (CML) is an uncommon type of cancer of the bone marrow - the spongy tissue inside bones where blood cells are made. CML causes an increased number of white blood cells in the blood.. The term chronic in chronic myelogenous leukemia indicates that this cancer tends to progress more slowly than acute forms of leukemia. The term myelogenous (my-uh-LOHJ-uh-nus) in chronic myelogenous leukemia refers to the type of cells affected by this cancer.. Chronic myelogenous leukemia can also be called chronic myeloid leukemia and chronic granulocytic leukemia. It typically affects older adults and rarely occurs in children, though it can occur at any age.. Advances in treatment have contributed to a greatly improved prognosis for people with chronic myelogenous leukemia. Most people will achieve remission and live for many years after diagnosis. ...
Also known as: Acute myelocytic leukemia / Acute myeloid leukemia / Leukemia, Myeloid, Acute / Acute myelocytic leukaemia / Acute myeloblastic leukemia with failed remission / Leukaemia myeloblastic acute / AML / Non-lymphoblastic leukaemia acute / Non-lymphoblastic leukemia acute / Acute myeloid leukemia NOS / Myeloid leukaemia, acute / Leukaemias acute myeloid / Acute myeloblastic leukemia / Acute myeloblastic leukaemia / Leukemia myeloblastic acute / Acute granulocytic leukaemia / Acute granulocytic leukemia / Acute myeloid leukaemia / Myeloid leukemia, acute / Acute myeloid leukaemia NOS ...
The discovery of the Philadelphia chromosome as a hallmark of chronic myelogenous leukemia in 1960 by Peter Nowell provided evidence for a genetic link to cancer. As with most seminal scientific observations, the description of the Philadelphia chromosome posed many more questions than were answered. This Review series includes contributions from individuals who performed critical experiments addressing some of the most important of these questions, reflecting the nearly 50 years of work inspired by Nowells initial finding. The legacy of the Philadelphia chromosome now serves as a paradigm for how basic science discoveries can lead to effective new approaches for the treatment of human disease.
Hi! My name is Qadoshyah and Im the oldest of 11 kids. I live on a ranch in the beautiful country of Northeastern Oklahoma with my family. We are a large household with so many kids that we have various projects going on: We raise goats, pigs, sheep, and rabbits (I raise the rabbits - cute little mini lops) on our 44 acre ranch. Our ranch is also home to bullmastiffs, chickens, guinea hens, ducks, llamas, a donkey, a bottle calf, and several ranch dogs and livestock guardian dogs. The youngest two kids are boy/girl twins born in Feb. 05. The boy happens to have Down syndrome. He is such a blessing to our family :)! Our whole family is also gluten-free, which adds another interesting aspect to our large, active family. We also cook dairy-free & corn-free due to allergies a few kids have. Some of the family is also on the GAPS diet to restore gut health ...
Sheikh Zayed Institute researcher Marius Linguraru sat down with Voice of America to talk about the facial recognition technology.
Tasigna is a cancer drug indicated to treat patients suffering from Philadelphia chromosome positive chronic myelogenous leukemia (CML).. At least a dozen studies published in prominent medical journals have suggested a link between Tasigna and arteriosclerosis. In April 2013, the Canadian prescribing information for Tasigna was updated to note a potential risk of arteriosclerosis. An alert issued by Health Canada noted a review of the Novartis global safety database had identified of 277 cases of atherosclerosis reported between January 1, 2005 and January 31, 2017.. While information about arteriosclerosis was added to the Tasignas U.S. label, a public notification was never issued to doctors and patients in this country. ...
Indirubin Function 1) anti cancer,anti tumor 2) mainly used for treating chronic granulocytic leukemia 3) used for treating abnormal myeloproliferative and eosinophil increased Application lndirubin is used in anti cancer and chronic .....
The use of tyrosine kinase inhibitor (TKI) therapy has become more common in pediatric patients in the last few years. This trend is likely to continue as more TKIs are approved and the list of conditions for which TKIs have clinical utility expands. Imatinib (Gleevec™) is a tyrosine kinase inhibitor that is specifically indicated for Philadelphia positive chronic myelogenous leukemia (PHÆCML). Dasatinib (Sprycel™) and nilotinib (Tasigna™) are TKIs indicated for CML patients who are no longer benefitting from, or did not tolerate, other treatments including imatinib. OBJECTIVE:The objective of this study was to determine whether there is evidence of growth retardation as an adverse drug experience for TKIs. METHODS:The FDA Adverse Event Reporting System (FAERS) was reviewed for currently posted data from 4th quarter 2012 until 1st quarter 2014 for individuals ≤ 18 years of age. The most recent update of the FAERs data was in October of 2014. These are sponsor, patient and physician reported
The Constitutional Court will hear an application on Thursday for leave to appeal a Western Cape High Court ruling against a damages claim by the mother of a Down syndrome child.
Later that evening, Linda shared with me the difficulties of helping James transition into the school system. She said the teachers and counselors had plenty of experience with children with autism, but little experience with Down Syndrome children. The reason for this is simple and devastating- children with Down Syndrome are simply not being born. In our country, approximately 90% of all prenatal diagnoses of Down Syndrome end in abortion. Many who make this choice say they are being merciful. They believe they are sparing their child from a lifetime of difficulty and a poor quality of life. Quality of life? What does that even mean?. After I returned home, I started thinking about this more and more. What defines an acceptable quality of life? As I contemplated, I couldnt help but picture a happy, smiling boy playing in the sand with his dad, putting on plays in the living room, laughing with his mom, giving me big hugs and kisses, and, most importantly, praying wholeheartedly to his ...
Why, then, does Singer argue that infants born with this condition can justly be killed? Because they are abnormal and do not have good prospects (Rethinking p. 214). This notion of prospects runs like a mantra through Singers discussion of Down syndrome children: the future prospects of life may be so bleak (211), the prospects are clouded (213), and so forth. But what sort of prospects does he have in mind? On p. 213 of Rethinking he lists several activities which a person with Down syndrome will supposedly never be capable of: to play the guitar, to develop an appreciation of science fiction, to learn a foreign language, to chat with us about the latest Woody Allen movie, or to be a respectable athlete, basketballer or tennis player. This list reads like a parody of bourgeois myths of achievement, success, and respectability. To Singer, however, these are legitimate reasons for killing a newborn. After all, if you cant do your own financial planning, why should you be allowed to ...
Questions and some answers from the Jérôme Lejeune Foundation on the best reflexes to have on health issues with a Down syndrome child.
This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patients clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician ...
At first I thought that maybe she didnt see me smile and I figured that once she sat down and glanced over shed start a conversation. As I was thinking this I also realised that I was facebook friends with this woman!!!! Seriously, when I first had Stella my home based development worker gave my name to all of the families who had a child with Down Syndrome, and this woman friended me. She even sent me a message! So I thought for sure once we were siting there, across from one another that she would say something to me. I had already attempted contact and honestly I just felt so deflated that I could not muster up the nerve to put myself out there again ...
Generic Hydrea (Hydroxyurea) is often used to treat cases of chronic ovarian cancer, myelocytic leukemia, melanoma and squamous cell cancer in the head and neck. Generic Hydrea may also be used to... From: ADD TO CART ...
"The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... Habu T, Taki T, West A, Nishimune Y, Morita T (1996). "The mouse and human homologs of DMC1, the yeast meiosis-specific ... Sato S, Seki N, Hotta Y, Tabata S (1995). "Expression profiles of a human gene identified as a structural homologue of meiosis- ... Kinebuchi T, Kagawa W, Kurumizaka H, Yokoyama S (2005). "Role of the N-terminal domain of the human DMC1 protein in octamer ...
Häring and Kypr; Kypr, J (2001). "No Isochores in the Human Chromosomes 21 and 22?". Biochemical and Biophysical Research ... 2006). "An isochore map of human chromosomes". Genome Research. 16 (4): 536-541. doi:10.1101/gr.4910606. PMC 1457033. PMID ... 1985). The human genome, for example, was described as a mosaic of alternating low and high GC content isochores belonging to ... A comprehensive study of the human genome unraveled a genomic organization where two-thirds of the genome is a mixture of many ...
DNA methylation profiling of human chromosomes 6, 20 and 22. Nature Genetics 38, 1378-85 (2006). Dodge, J.E., Ramsahoye, B.H., ... It is quite time-consuming (it can take several days to analyse one chromosome). (Note: In one government lab, running Batman ... Human DNA methylomes at base resolution show widespread epigenomic differences. Nature 462, 315-22 (2009). Bird, A. DNA ... which represents the fraction of chromosomes in the sample on which it is methylated. mc is considered as a continuous variable ...
Articles with short description, Short description matches Wikidata, Genes on human chromosome 13, Wikipedia articles ... "Localization of the candidate tumor suppressor gene ING1 to human chromosome 13q34". Somatic Cell and Molecular Genetics. 23 (3 ... ING1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Inhibitor of growth protein 1 is a protein that in humans is encoded by the ING1 gene. This gene encodes a tumor suppressor ...
v t e (Genes on human chromosome 22, All stub articles, Protein stubs). ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... Saito H, Fujiwara T, Shin S, Okui K, Nakamura Y (Jan 1997). "Cloning and mapping of a human novel cDNA (NHP2L1) that encodes a ... NHP2-like protein 1 is a protein that in humans is encoded by the SNU13 gene. Originally named because of its sequence ...
Paul R, Hu B, Musahl C, Hameister H, Knippers R (Sep 1996). "Coding sequence and chromosome mapping of the human gene (CDC46) ... v t e (Genes on human chromosome 22, All stub articles, Human chromosome 22 gene stubs). ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... Mini Chromosome Maintenance MCM5 has been shown to interact with: Cell division cycle 7-related protein kinase, MCM2, MCM3, ...
Outside of humans, Przewalski's horse has 66 chromosomes, while both of domesticated horses and the tarpan have 64 chromosomes ... Humans have 5 autosomal chromosomes with arms that are particularly discordant in length, known as acrocentric chromosomes. ... The International System for Human Cytogenomic Nomenclature (ISCN) is an international standard for human chromosome ... The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Annals of Human Genetics 1989;53: ...
... (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent ... "Uniparental disomy as a mechanism for human genetic disease". American Journal of Human Genetics. 42 (2): 217-226. PMC 1715272 ... are associated with abnormalities of imprinted genes on the short arm of chromosome 11. Chromosome 14 is also known to cause ... Both of these disorders can be caused by UPD or other errors in imprinting involving genes on the long arm of chromosome 15. ...
Based on an extensive search on the complete sequences of human chromosomes 21 and 22, DNA regions greater than 500 bp were ... Takai D, Jones PA (2002). "Comprehensive analysis of CpG islands in human chromosomes 21 and 22". Proc Natl Acad Sci USA. 99 (6 ... International Human Genome Sequencing Consortium (2001-02-15). "Initial sequencing and analysis of the human genome". Nature. ... In humans, DNA methylation occurs at the 5 position of the pyrimidine ring of the cytosine residues within CpG sites to form 5- ...
Human proteins, All stub articles, Human chromosome 22 gene stubs). ... A4GALT human gene location in the UCSC Genome Browser. A4GALT human gene details in the UCSC Genome Browser. v t e (Articles ... 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. ... Lactosylceramide 4-alpha-galactosyltransferase is an enzyme that in humans is encoded by the A4GALT gene. The protein encoded ...
Genes on human chromosome 22, Wikipedia articles incorporating text from the United States National Library of Medicine, Human ... Related pseudogenes have also been identified on four other chromosomes. The human NDUFA6 gene codes for a subunit of Complex I ... 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. ... 2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311-9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518 ...
... +Protein at the US National Library of Medicine Medical Subject Headings (MeSH) (Genes on human chromosome 15, Wikipedia ... In humans, RAD51 is a 339-amino acid protein that plays a major role in homologous recombination of DNA during double strand ... In mice and humans, the BRCA2 complex primarily mediates orderly assembly of RAD51 on ssDNA, the form that is active for ... However, in the presence of a BRCA2 mutation, human RAD52 can mediate RAD51 assembly on ssDNA and substitute for BRCA2 in ...
... later also found in human telomeres. Introduction of PFG electrophoresis for the separation of chromosome-sized DNA molecules ... Reid G, Wielinga P, Zelcer N, Van der Heijden I, Kuil A, De Haas M, Wijnholds J, Borst P. The human multidrug resistance ... Bernards A, Michels PA, Lincke CR, Borst P. Growth of chromosome ends in multiplying trypanosomes. Nature. 1983;303:592-7. Van ... Van der Ploeg LH, Cornelissen AW, Barry JD, Borst P. Chromosomes of kinetoplastida. EMBO J. 1984;3:3109-15. Heymans HS, ...
A regular human carries 23 pairs of chromosomes in his or her cells. Cells containing two pairs of chromosomes are known as ... Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes ( ... and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or ... or a total of 69 chromosomes. Triploidy is distinct from trisomy, in which only one chromosome exists in three pairs. A well- ...
Genes on human chromosome 19, All stub articles, Human chromosome 19 gene stubs). ... 1999). "A third human CBL gene is on chromosome 19". Int. J. Oncol. 13 (6): 1159-61. doi:10.3892/ijo.13.6.1159. PMID 9824625. ... Human CBLC genome location and CBLC gene details page in the UCSC Genome Browser. Ollendorff V, Mattei M, Fournier E, et al. ( ... Signal transduction protein CBL-C is a protein that in humans is encoded by the CBLC gene. CBL proteins, such as CBLC, are ...
v t e (Genes on human chromosome 22, All stub articles, Human chromosome 22 gene stubs). ... "An expression-independent catalog of genes from human chromosome 22". Genome Res. 5 (3): 214-24. doi:10.1101/gr.5.3.214. PMID ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... Plexin-B2 is a protein that in humans is encoded by the PLXNB2 gene. Members of the B class of plexins, such as PLXNB2 are ...
Genes on human chromosome 7, Transcription factors, All stub articles, Human chromosome 7 gene stubs). ... Kalff-Suske M, Kunz J, Grzeschik KH, Suske G (April 1995). "Human Sp4 transcription factor gene (SP4) maps to chromosome 7p15 ... Transcription factor Sp4 is a protein that in humans is encoded by the SP4 gene. Sp4 transcription factor has been shown to ... Davis W, Chen ZJ, Ile KE, Tew KD (February 2003). "Reciprocal regulation of expression of the human adenosine 5'-triphosphate ...
v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 6, Solute carrier family ... 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. Bibcode:2003Natur.425..805M. doi: ... Adenosine 3'-phospho 5'-phosphosulfate transporter 1 is a protein that in humans is encoded by the SLC35B2 gene. Solute carrier ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
Dec 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/ ... 2001). "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping". DNA Res. 8 (1 ... v t e (Genes on human chromosome 22, All stub articles, Human chromosome 22 gene stubs). ... Oxysterol-binding protein 2 is a protein that in humans is encoded by the OSBP2 gene. Oxysterols are byproducts of cholesterol ...
Humans have one pair fewer chromosomes than other apes, with ape chromosomes 2 and 4 fused in the human genome into a large ... Chromosomes 3, 11, 14, 15, 18, and 20 match between gorillas, chimpanzees, and humans. Chimpanzees and humans match on 1, 2p, ... These include natural selection on the X chromosome in the common ancestor of humans and chimpanzees, changes in the ratio of ... The similarity of the X chromosome in humans and chimpanzees might suggest hybridization taking place as late as four million ...
"Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes". Journal of Human Genetics (November ... August 21, 2011. Shillony, pp. 136-137 Michael F Hammer, Tatiana M Karafet, Satoshi Horai et al. " ... 18, 2005). doi:10.1007/s10038-005-0322-0. Accessed February 22, 2018 "Communities , The Jewish Community of China". www. ...
Portal: Biology v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... 2000). "Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3". EMBO J. 19 (11): 2475-82. ... 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
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.. ... gene and schizophrenia on chromosome 1q23.3". European Journal of Human Genetics. 16 (10): 1275-82. doi:10.1038/ejhg.2008.76. ... U2AF homology motif (UHM) kinase 1, also known as UHMK1, is a protein which in humans is encoded by the UHMK1 gene. UHMK1 is a ...
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.. ... In a human patient with Hoyeraal-Hreidarsson syndrome, a dominant negative mutation in the SNM1B/Apollo gene was discovered. ... DNA cross-link repair 1B protein is a protein that in humans is encoded by the DCLRE1B gene. DNA interstrand cross-links ...
RNA, ribosomal 5, also known as RNR5, is a human gene. Genes for ribosomal RNA are clustered on the short arms of chromosomes ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome, Proteins, Non-coding RNA ... 1985). "Variation among human 28S ribosomal RNA genes". Proc. Natl. Acad. Sci. U.S.A. 82 (22): 7666-7670. Bibcode:1985PNAS... ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Entrez Gene: RNR5 ...
Inferences from Y-Chromosome Analysis". American Journal of Human Biology. 21 (3): 326-336. doi:10.1002/ajhb.20863. PMID ... Inferences from Y-Chromosome Analysis". American Journal of Human Biology. 21 (3): 326-336. doi:10.1002/ajhb.20863. PMID ... According to a more detailed autosomal analysis of thousands of SNPs, not just of the sex chromosome, Gagauz are most proximal ... ISBN 978-3-7913-3515-5. "Searching for the Origin of Gagauzes: Inferences from Y-Chromosome Analysis" (PDF). Medgenetics.ru. ...
Genes on human chromosome 1, Pseudogenes, 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.. ... 2003). "The human and mouse replication-dependent histone genes". Genomics. 80 (5): 487-98. doi:10.1016/S0888-7543(02)96850-3. ... 2005). "Modifications of human histone H3 variants during mitosis". Biochemistry. 44 (39): 13202-13. doi:10.1021/bi050906n. ...
Genes on human chromosome, Wikipedia articles that are too technical from May 2017, All articles that are too technical, Genes ... Chromosome 22 was chosen based on the results of the data collected from three clinical visits at the Framingham Heart Study. ... FAM227A is found on chromosome 22 at the location 22q13.1. It is flanked by the gene LOC105373031 on the left and CBY1 on the ... FAM227A is a protein that in humans is encoded by FAM227A gene. Current studies have determined the location of this gene to be ...
Portal: Biology (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 22, ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... DNA dC->dU-editing enzyme APOBEC-3C is a protein that in humans is encoded by the APOBEC3C gene. A3C belong to the A3 family of ... Human APOBEC3C genome location and APOBEC3C gene details page in the UCSC Genome Browser. Overview of all the structural ...
Foresta C, Ferlin A, Moro E (May 2000). "Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a ... v t e (CS1: long volume value, Articles with short description, Short description matches Wikidata, Genes on human chromosome Y ... Lahn BT, Page DC (October 1997). "Functional coherence of the human Y chromosome". Science. 278 (5338): 675-80. Bibcode:1997Sci ... April 1998). "The UTX gene escapes X inactivation in mice and humans". Human Molecular Genetics. 7 (4): 737-42. doi:10.1093/hmg ...
The result was a human upper limit set at 1000 mg/day.[3] Collectively the EARs, RDAs, AIs and ULs are referred to as Dietary ... Alpha-tocopherol transfer protein is coded by the TTPA gene on chromosome 8. The binding site for RRR-α-tocopherol is a ... It identified that no adverse effects were observed in a human trial as 540 mg/day, used an uncertainty factor of 2 to get to a ... A worldwide summary of more than one hundred human studies reported a median of 22.1 µmol/L for serum α-tocopherol, and defined ...
This remains the only known case, but raises the question of why the known human cure for Streptococcus was ineffective in this ... Orangutans have 48 chromosomes.[23] The Sumatran orangutan genome was sequenced in January 2011, based on a captive female ... They are extremely large animals, weighing between 50 and 90 kilograms, roughly the weight of a fully grown human. They have a ... The orangutan genome also has fewer rearrangements than the chimpanzee/human lineage.[24] ...
... s production in the human body (known as "human chitinases") may be in response to allergies, and asthma has been ... Chitinase activity can also be detected in human blood[21][22] and possibly cartilage.[23] As in plant chitinases this may be ... Human chitinases may explain the link between some of the most common allergies (dust mites, mold spores-both of which contain ... Genes on human chromosome 1. *EC 3.2.1. *Enzymes. Hidden categories: *CS1: long volume value ...
Modern humans are different. The human ability to drink milk during adult life is supported by a lactase mutation. Human ... Studies over many years have shown that natural populations of Drosophila are polymorphic for chromosome inversions.[27] The ... American Journal of Human Genetics 74(6): 1111-20. *↑ Wade N. 2006. Study detects recent instance of human evolution. The New ... Microsatellite variation and evolution of human lactase persistence. Human Genetics 117(4): 329-339. ...
... s that reflect the full range of visible light are generally perceived as white by a human observer. An important feature ... two copies of each chromosome) cell.[78] ... Humans observers will perceive this as degrees of saturation ( ... History shows that flowers have been used by humans for thousands of years, to serve a variety of purposes. An early example of ... Some of them tended to grow with human crops, and the prettiest did not get plucked because of their beauty, developing a ...
"Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-148. doi:10.1007/s00439-003-1031-4. PMID ... "Deep Phylogenetic Analysis of Haplogroup G1 Provides Estimates of SNP and STR Mutation Rates on the Human Y-Chromosome and ... "European Journal of Human Genetics. 19 (1): 95-101. doi:10.1038/ejhg.2010.146. PMC 3039512. PMID 20736979.. ... "European Journal of Human Genetics. 20 (12): 1275-1282. doi:10.1038/ejhg.2012.86. PMC 3499744. PMID 22588667.. ...
Humans depend on plants for food, either directly or as feed for domestic animals. Agriculture deals with the production of ... and examination of chromosomes in maize allowed Barbara McClintock to demonstrate their connection to inherited traits.[123] ... The study of plant uses by people is called economic botany or ethnobotany.[101] Human cultivation of plants is part of ... Plants that produce grain, fruit, and vegetables also form basic human foods and have been domesticated for millennia. Plants ...
For example, DYS449 is located at Yp11.2 - meaning the Y-chromosome, petit arm, band 1, sub-band 1, sub-sub-band 2 - DYS449.[2] ... "Interview with John Butler and Members of the NIST Human Identity Project Team". JoGG. Retrieved 11 August 2012.. ... 2004), A Comprehensive Survey of Human Y-Chromosomal Microsatellites Am. J. Hum. Genet., 74 1183-1197. NB online only data file ... The location on the Y-chromosome of numbered Y-STR markers can be roughly given with cytogenetic localization. ...
Lelias JM, Kaghad M, Rodriguez M, et al. (1993). „Molecular cloning of a human beta 3-adrenergic receptor cDNA.". FEBS Lett. ... Dib A, Adélaïde J, Chaffanet M, et al. (1995). „Characterization of the region of the short arm of chromosome 8 amplified in ... van Spronsen A, Nahmias C, Krief S, et al. (1993). „The promoter and intron/exon structure of the human and mouse beta 3- ... Rodriguez M, Carillon C, Coquerel A, et al. (1995). „Evidence for the presence of beta 3-adrenergic receptor mRNA in the human ...
Grimwood J, Gordon LA, Olsen A, et al. (2004). „The DNA sequence and biology of human chromosome 19.". Nature 428 (6982): 529- ... Rual JF, Venkatesan K, Hao T, et al. (2005). „Towards a proteome-scale map of the human protein-protein interaction network.". ... Otsuki T, Ota T, Nishikawa T, et al. (2007). „Signal sequence and keyword trap in silico for selection of full-length human ... Strausberg RL, Feingold EA, Grouse LH, et al. (2003). „Generation and initial analysis of more than 15,000 full-length human ...
Genetic Patterns of Y-chromosome and Mitochondrial DNA Variation, with Implications to the Peopling of the Sudan (PDF) (Ph.D. ... American Journal of Human Genetics. 84 (6): 814-21. doi:10.1016/j.ajhg.2009.05.004. PMC 2694970. PMID 19500771. Archived from ... American Journal of Human Genetics. 84 (6): 814-21. doi:10.1016/j.ajhg.2009.05.004. PMC 2694970. PMID 19500771.. ... "American Journal of Human Genetics. 82 (5): 1084-100. doi:10.1016/j.ajhg.2008.03.019. PMC 2427195. PMID 18452887.. ...
Bacterial Artificial Chromosome (BAC)-end sequencing (end-sequence profiling): Identifies chromosomal breakpoints by generating ... Yu, Man (2012). Somatic Mitochondrial DNA Mutations in Human Cancers. Advances in Clinical Chemistry. Vol. 57. pp. 99-138. doi: ... As pointed out by Gao et al.,[26] the stability and integrity of the human genome are maintained by the DNA-damage response ( ... A human Phase II clinical trial, with 41 patients, evaluated one synthetic lethal approach for tumors with or without MMR ...
Mice differ from humans in several immune properties: mice are more resistant to some toxins than humans; have a lower total ... 3,000 Mb distributed over 19 autosomal chromosomes plus 1 respectively 2 sex chromosomes), therefore equal to the size of the ... The current count of primary coding genes in the laboratory mouse is 23,139.[12] compared to an estimated 20,774 in humans.[12] ... This was only the second mammalian genome to be sequenced after humans.[11] The haploid genome is about three billion base ...
1930 - Karl Landsteiner, for discovery of human blood types.[24]. *1931 - Otto Heinrich Warburg, Germany, for his discovery of ... 2009 - Elizabeth Blackburn, Australia, Carol Greider, US, and Jack Szostak, England, for their work on chromosomes.[101] ... 2008 - Harald zur Hausen, Germany, for finding the human papilloma viruses causing cervical cancer. Françoise Barré-Sinoussi ... 1933 - Thomas Hunt Morgan, United States, for his work on chromosomes and heredity".[27] ...
The human obese (OB) gene: RNA expression pattern and mapping on the physical, cytogenetic, and genetic maps of chromosome 7. ... Lönnqvist, F.; Arner, P.; Nordfors, L.; Schalling, M. Overexpression of the obese (ob) gene in adipose tissue of human obese ... Leibel, R. L.; Bahary, N.; Friedman, J. M. Strategies for the molecular genetic analysis of obesity in humans. Critical Reviews ... Considine RV, Considine EL, Williams CJ, Hyde TM, Caro JF (1996). "The hypothalamic leptin receptor in humans: identification ...
A second thymus in the neck has been reported sometimes to occur in the mouse[37] As in humans, the guinea pig's thymus ... The most common congenital cause of thymus-related immune deficiency results from the deletion of the 22nd chromosome, called ... This article is about a human organ. For culinary use of animal thymus, see Sweetbread. For the plant genus Thymus, see Thymus ... When used as food for humans, the thymus of animals is known as one of the kinds of sweetbread.[28] ...
Scherer SW, Cheung J, MacDonald JR, et al. (2003). „Human chromosome 7: DNA sequence and biology.". Science 300 (5620): 767-72 ... Vassilatis DK, Hohmann JG, Zeng H, et al. (2003). „The G protein-coupled receptor repertoires of human and mouse.". Proc. Natl ... Strausberg RL, Feingold EA, Grouse LH, et al. (2003). „Generation and initial analysis of more than 15,000 full-length human ... Gloriam DE, Schiöth HB, Fredriksson R (2005). „Nine new human Rhodopsin family G-protein coupled receptors: identification, ...
"Human biology. 80 (2). doi:10.3378/1534-6617(2008)80[141:TVIPAO]2.0.CO;2. ISSN 0018-7143.. ... "Genetics, Egypt and History: Interpreting Geographical Patterns of a Y-Chromosome Variation". History in Africa. 32: 221-46. ... Merimde culture clay head, circa 5,000 BC.[40] This is one of the earliest known representations of a human head in Egypt. ... Prehistoric Egypt and Predynastic Egypt span the period from the earliest human settlement to the beginning of the Early ...
When the chromosome is replicated, this gives rise to one daughter chromosome that is heavily methylated downstream of the ... In human cells, and eukaryotic cells in general, DNA is found in two cellular locations - inside the nucleus and inside the ... In human cells, oxidative DNA damage occurs about 10,000 times a day and DNA double-strand breaks occur about 10 to 50 times a ... For example, Human DNA polymerase eta can bypass complex DNA lesions like guanine-thymine intra-strand crosslink, G[8,5-Me]T, ...
The 1p21.1 region of human chromosome 1 contains many copies of these genes, variously named AMY1A, AMY1B, AMY1C, AMY2A, AMY2B ... Starch has become a staple of the human diet. Despite the obvious benefits, early humans did not possess salivary amylase, a ... suggesting they acquired the extra copies as they followed humans around.[23] Unlike humans whose amylase levels depend on ... However, not all humans possess the same number of copies of the AMY1 gene. Populations known to rely more on saccharides have ...
2005). "The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups". Annals of Human ... oppressed by the Catholics and against whom Pope John XXII even launched a crusade in 1325, the people were more receptive to ... 2003). "Mitochondrial DNA Variability in Bosnians and Slovenes". Annals of Human Genetics. 67 (5): 412-425. doi:10.1046/j.1469- ... Journal HOMO of Comparative Human Biology. 67 (6): 471-483. doi:10.1016/j.jchb.2016.10.003. PMID 27908490.. ...
Maslen GL, Boyd Y (1993). „Comparative mapping of the Grpr locus on the X chromosomes of man and mouse.". Genomics 17 (1): 106- ... Strausberg RL, Feingold EA, Grouse LH, et al. (2003). „Generation and initial analysis of more than 15,000 full-length human ... Benya RV, Kusui T, Pradhan TK, et al. (1995). „Expression and characterization of cloned human bombesin receptors.". Mol. ... Corjay MH, Dobrzanski DJ, Way JM, et al. (1991). „Two distinct bombesin receptor subtypes are expressed and functional in human ...
The human mitochondrial genome has retained genes encoding 2 rRNAs (blue), 22 tRNAs (white), and 13 redox proteins (yellow, ... Consequently, the chromosomes of many eukaryotes contain genes that originated from the genomes of mitochondria and plastids.[ ... Some species including Pediculus humanus (lice) have multiple chromosomes in the mitochondrion. This and the phylogenetics of ... organelle genomes forge eukaryotic chromosomes". Nature Reviews Genetics. 5 (2): 123-135. doi:10.1038/nrg1271. PMID 14735123. ...
Stewart, Dugald (1792). Elements of the philosophy of the human mind (1 ed.). p. 80. Retrieved 14 April 2022.. ... These conditions are mediated by the OPN1SW gene on Chromosome 7. Other genetic causes[edit]. Several inherited diseases are ... "Human Vision and Color Perception". Florida State University. Archived from the original on 27 August 2007. Retrieved 5 April ... However, it can also be used to sequence the L- and M-Opsins on the X-Chromosome, since the most common alleles of these two ...
1996). „Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization ... and localization to rat chromosome 11 and mouse chromosome 16". Mamm. Genome. 6 (11): 798-801. PMID 8597637. doi:10.1007/ ... 1995). „Mutations in the Human Ca2+-Sensing-Receptor Gene That Cause Familial Hypocalciuric Hypercalcemia". Am. J. Hum. Genet. ... Tfelt-Hansen J, Schwarz P, Brown EM, Chattopadhyay N (2004). „The calcium-sensing receptor in human disease". Front. Biosci. 8 ...
For example, in the Homininae, two chromosomes fused to produce human chromosome 2; this fusion did not occur in the lineage of ... In humans, the mutation rate is about 50-90 de novo mutations per genome per generation, that is, each human accumulates about ... Ségurel L, Bon C (August 2017). "On the Evolution of Lactase Persistence in Humans". Annual Review of Genomics and Human ... Changes in chromosome number may involve even larger mutations, where segments of the DNA within chromosomes break and then ...
"Human Biology Open Access Pre-Prints (Paper 41). Archived from the original on 11 October 2014. Retrieved 11 June 2020.. {{cite ... "Y Chromosome Bears Witness to Story of the Jewish Diaspora". The New York Times. Retrieved 10 October 2012 ... Gregory Cochran, Henry Harpending, The 10,000 Year Explosion: How Civilization Accelerated Human Evolution, Basic Books, 2009 ... 2001), "Origins and divergence of the Roma (Gypsies)", American Journal of Human Genetics, 69 (6): 1314-1331, doi:10.1086/ ...
Candida albicans Biofilms and Human Disease. Annu Rev Microbiol.. 2015, 69: 71-92. doi:10.1146/annurev-micro-091014-104330.. ... Completion of a parasexual cycle in Candida albicans by induced chromosome loss in tetraploid strains. The EMBO Journal: 2505- ... Noble, S. M; Johnson, A. D. Strains and strategies for large-scale gene deletion studies of the diploid human fungal pathogen ... Assembly of the Candida albicans genome into sixteen supercontigs aligned on the eight chromosomes. Genome Biology. 2007, 8 (4 ...
Human Rights Watch Report. September 2006, Vol. 18, No.9. *↑ "Issyk-Kul: Chasing short-term profit". New Eurasia. Retrieved 3 ... "The Eurasian Heartland: A continental perspective on Y-chromosome diversity". Proceedings of the National Academy of Sciences ... "The American Journal of Human Genetics. 71 (3): 466-82. doi:10.1086/342096. PMC 419996. PMID 12145751.. ... "Human Rights Activists Condemn New Religion Law". Eurasianet.org. 16 January 2009. Archived from the original on 29 ఏప్రిల్ ...
"Les chromosomes humains en culture de tissus [The human chromosomes in tissue culture]". Comptes Rendus Hebdomadaires des ... a malformation syndrome in which a ring-shaped chromosome replaces chromosome 13), and he identified trisomies on chromosome 9 ... This was two years after Tjio and Levan had proven that the human species has 46 chromosomes. On 13 June 1958, Lejeune ... In 1956, biologists from Lund University in Sweden announced that humans have exactly 46 chromosomes. Turpin had many years ...
Chromosomes came first: first years of human chromosomes. The beginnings of human cytogenetics ... Download PDF Chromosomes came first: first years of human chromosomes. The beginnings of human cytogenetics. Item ... Schinzel, A (2008). Chromosomes came first: first years of human chromosomes. The beginnings of human cytogenetics. European ...
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- ...
Categories: Chromosomes, Human, 21-22 and Y Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
Chromosome 22 is the second smallest human chromosome, spanning more than 51 million DNA building blocks (base pairs) and ... Humans normally have 46 chromosomes (23 pairs) in each cell. Two copies of chromosome 22, one copy inherited from each parent, ... Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 22. Genet Test. 1998;2(1):89-97. doi: ... A ring chromosome is a circular structure that occurs when a chromosome breaks in two places, the tips of the chromosome are ...
The DNA sequence of the fusion point on human chromosome 2.. OK so over a million years ago there were a few humans running ... In fact, when you compare human and chimpanzee chromosomes, you can pretty easily see how chromosomes 12 and 13 of chimpanzees ... "Chromosome studies. I. Taxonomic relationships shown in the chromosomes of Tettigidae and Acrididae. V-shaped chromosomes and ... When you line up human (H) and chimpanzee (C) chromosomes, it quickly becomes obvious that our #2 comes from a fusion of two ...
Bayou N, Belhadj A, Daoud H, et al..Exploring the 7p22.1 chromosome as a candidate region for autism.J Biomed Biotechnol. 2010 ... Bayou N, Mrad R, Belhaj A, et al..The creatine transporter gene paralogous at 16p11.2 is expressed in human brain.Comp Funct ... Abu-Amero KK, Hellani AM, Salih MA, et al..A de novo marker chromosome derived from 9p in a patient with 9p partial duplication ... and one patient had a chromosome abnormality. Twenty-five patients were taking psychotropic medications and 14 patients were ...
Chromosomes, human, female, of culture of peripheral blood 20(i). Chromosomes, human, male, of culture of peripheral blood 21(f ... Giant chromosomes from salivary gland of Chironomus, squash preparation stained for chromomeres 11(f). Giant chromosomes, ... Drosophila genetics, adult wild type, w.m. 22(f). Drosophila genetics, "barr eye" mutant, w.m. 23(f). Drosophila genetics, " ...
3D Chromosome Regulatory Landscape of Human Pluripotent Cells. Cell Stem Cell 2016, 18, 262-275. [Google Scholar] [CrossRef][ ... Unbiased Mapping of Transcription Factor Binding Sites along Human Chromosomes 21 and 22 Points to Widespread Regulation of ... Within Chromosome Territories (TCs), chromosomes are considered to be separated into two compartments. The A compartments ... Interphase nuclei show a complex and dynamic architecture of chromosomes and nuclear features. Chromosomes are structured ...
MMWR and Morbidity and Mortality Weekly Report are service marks of the U.S. Department of Health and Human Services.. Use of ... Genes that confer resistance can be carried on the same plasmid or chromosome as genes that increase bacterial virulence, ... Preventing these HAIs is an important strategy for reducing the impact of AR bacteria on human health, including the prevention ... US Department of Health and Human Services. National action plan to reduce healthcare-associated infections. Washington DC: US ...
... vinyl acetate in human TK6 cells (ILS, 2010), or significant increases in chromosome aberrations in human peripheral blood ... Twenty-two chemicals of various classes were investigated for mutagenicity in a collaborative study (20 laboratories in all) ... Chromosome level study Species / strain / cell type:. human lymphoblastoid cells (TK6). Details on mammalian cell type (if ... In vitro exposure levels to human TK6 cells of VAM and AA at concentrations =0.05 mM for four hours did not induce chromosome ...
The 1p21.1 region of human chromosome 1 contains many copies of these genes, variously named AMY1A, AMY1B, AMY1C, AMY2A, AMY2B ... Starch has become a staple of the human diet. Despite the obvious benefits, early humans did not possess salivary amylase, a ... suggesting they acquired the extra copies as they followed humans around.[23] Unlike humans whose amylase levels depend on ... However, not all humans possess the same number of copies of the AMY1 gene. Populations known to rely more on saccharides have ...
Not all PWMs predict TFBS correlated with human promoter sequences. Two main PWM groups were identified: (1) those that show ... Genes in chromosomes 20, 21, 22 were denoted by U = {Cu, Eu, Fu, , }. Gene sets Cu, Eu,Fu, and are parts of C, E, F, Gn and Gex ... We investigated the frequency of enhancers in human introns by searching NCBI PubMed [36] with the keywords human, first ... Although these results were derived from genes on chromosome 20, the results from other chromosomes were similar as described ...
The available genomic data shows that the sequence features encompassing the purported chromosome 2 fusion site are too ... The chromosome 2 fusion is thought to account for the fact that humans have only 46 (2N) chromosomes and the great apes, ... Fan, Y. et al., Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and ... Depiction of a hypothetical scenario where chimpanzee chromosomes 2A and 2B supposedly fuse to form human chromosome 2. The two ...
Although the Wnt antagonist genes WIF1 and DKK3 show a very similar frequency of promoter methylation in human breast cancer, ... Secreted Wnt signaling antagonists have recently been described as frequent targets of epigenetic inactivation in human tumor ... Takai D, Jones PA: Comprehensive analysis of CpG islands in human chromosomes 21 and 22. Proc Natl Acad Sci USA. 2002, 99: 3740 ... Methylation analysis of the human WIF1 promoter. (A) A 1.29 kb genomic sequence of the WIF1 promoter, analyzed by methprimer ...
Tsend-Ayush, E.; Grützner, F.; Yue, Y.; Grossmann, B.; Hänsel, U.; Sudbrak, R.; Haaf, T.: Plasticity of human chromosome 3 ... The DNA sequence of the human X chromosome. Nature 343 (7031), pp. 325 - 337 (2005) ... The DNA sequence of the human X chromosome. Nature 343 (7031), pp. 325 - 337 (2005) ... 21.. Journal Article Sudbrak, R.; Beck, A.; Heitmann, K.; Hennig, S.; Klages, S.; Kosiura, A.; Mueller, I.; Reinhardt, R.; ...
object contains all annotated CpGs on human chromosome 21 and 22, whether or not there is actual data. Since we have multiple ... Number of CpGs in two chromosomes length(BS.cancer.ex). ## [1] 958541. ## Number of CpGs which are covered by at least 1 read ... The average coverage of CpGs on the two chromosomes round(colMeans(getCoverage(BS.cancer.ex)), 1). ## C1 C2 C3 N1 N2 N3 ## 3.5 ... In this vignette we analyze chromosome 21 and 22 from (Hansen et al. 2011). This is primary data from 3 patients with colon ...
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. ...
The human LGR5 gene is located on the chromosome 12q22-23 with a total length of 4208 bp, containing 22 exons and 21 introns. ... 2006) Identification of Over Expression of Orphan G Protein-Coupled Receptor GPR49 in Human Colon and Ovarian Primary Tumors. ... 2003) Over Expression of Orphan G-Protein-Coupled Receptor, Gpr49, in Human Hepatocellular Carcinomas with Beta-Catenin ... Becker, L. (2008) Immunostaining of Lgr5, an Intestinal Stem Cell Marker, in Normal and Premalignant Human Gastrointestinal ...
Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22. Genome Res. ... In humans, the mRNAs that are expressed in the central nervous system (CNS) are subjected to the highest degree of AS when ... A human importin-beta family protein,transportin-SR2, interacts with the phosphorylated RS domain of SR proteins. J. Biol. Chem ... Indeed, 74% of all human genes are known to be alternatively spliced and different tissues exhibit varying degrees of AS(Cheng ...
... pericentric inversion of chromosome 9 (2; 1.5%), marker chromosome (2; 1.5%) and sex chromosome aberrations (4; 2.9%). All of ... ricentrique du chromosome 9 (2; 1,5%), marqueur chromosomique (2; 1,5%) et aberrations des chromosomes sexuels (4; 2,9%). Tous ... A total of 53 (38.7%) had an abnormal karyotype: trisomy 21 (36; 26.3%), trisomy 18 (3; 2.2%), trisomy 13 (1; 0.7%), partial ... Au total, 53 enfants avaient un cariotype anormal: trisomie 21 (36; 26,3%), trisomie 18 (3; 2,2%), trisomie 13 (1; 0,7%), hétà ...
... of human oocytes contain at least one exchangeless chromosome pair, demonstrating a remarkably high level of meiotic ... The findings suggest that right from the get-go of human egg cell development, a striking proportion of oocytes are predestined ... recombination failure, finds a study appearing December 10 in the American Journal of Human Genetics. ... To determine the overall proportion of human oocytes containing one or more exchangeless chromosomes, they counted chromosome ...
Folate deficiency, a common vitamin deficiency in people who eat few fruits and vegetables, causes chromosome breaks in human ... Both high DNA uracil levels and chromosome breaks in humans are reversed by folate administration [18]. Folate supplementation ... are deficient at the level causing chromosome breaks in humans. In two small studies of low income (mainly African-American) ... Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal ...
... human chromosome 1; صبغي 1; χρωμόσωμα 1; Chromosoma 1; cromosoma umano; মানব ক্রোমোজম; chromosome humain; 人類染色體; humant ... Media in category "Human chromosome 1". The following 50 files are in this category, out of 50 total. ... Human chromosome 01 with ASD genes from IJMS-16-06464.png 644 × 2,828; 582 KB. ... Human chromosome 01 from Gene Gateway - with label.png 1,301 × 2,340; 403 KB. ...
Chromosomes, Human, Pair 22 Medicine & Life Sciences 24% * Inheritance Patterns Medicine & Life Sciences 23% ... Chromosome banding studies in our family were normal. Thus our family demonstrates an autosomal dominant pattern of inheritance ... Chromosome banding studies in our family were normal. Thus our family demonstrates an autosomal dominant pattern of inheritance ... Chromosome banding studies in our family were normal. Thus our family demonstrates an autosomal dominant pattern of inheritance ...
Sullivan GJ, Bridger JM, Cuthbert AP, Newbold RF, Bickmore WA, McStay B. Human acrocentric chromosomes with transcriptionally ... Modelling Human Disease with Pluripotent Stem Cells. Current Gene Therapy. ISSN 1566-5232. 13(2), p. 99-110. doi: 10.2174/ ... FVII: A human pluripotent stem cell derived hepatocyte model with potential therapeutic applications. Research and Practice in ... Small-molecule-driven hepatocyte differentiation of human pluripotent stem cells. Stem Cell Reports. ISSN 2213-6711. 4(5), p. ...
  • 11(22)2022 Nov 11. (bvsalud.org)
  • 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)
  • As of 2022, Trisomy 21 is the most common type of trisomy, or a condition where the person has three instead of the normal two copies of one of the chromosomes. (asu.edu)
  • 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)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • Chromosome 22 likely contains 500 to 600 genes that provide instructions for making proteins. (medlineplus.gov)
  • Researchers believe that several critical genes near the end of the q arm of chromosome 22 are lost when the ring chromosome 22 forms. (medlineplus.gov)
  • The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes at the end of chromosome 22. (medlineplus.gov)
  • Although the Wnt antagonist genes WIF1 and DKK3 show a very similar frequency of promoter methylation in human breast cancer, only DKK3 methylation proves as a novel prognostic marker potentially useful in the clinical management of this disease. (biomedcentral.com)
  • Promoter methylation effectively represses RNA transcription and occurs in many genes involved in human cancer development [ 2 ]. (biomedcentral.com)
  • Genomic imprinting, a process that causes genes to be expressed according to their parental origin, affects a minority of human genes, probably less than 1,000. (jci.org)
  • Parental allele-specific alterations in the chromosome environment of imprinted genes are revealed by the presence of asynchronous DNA replication and differences in chromatin structure and modification (e.g., histone acetylation). (jci.org)
  • Because the regulation of imprinted genes in the homologous region in the mouse (distal region of chromosome 7) is broadly conserved between mice and humans, experiments in mice have complemented molecular analyses of BWS pathology and have contributed greatly to our current knowledge of mammalian genomic imprinting mechanisms. (jci.org)
  • In this review, we consider the mechanisms and role of genomic imprinting in human development and in BWS pathogenesis, drawing on research on the human and the mouse clusters of imprinted genes. (jci.org)
  • Trans -acting lncRNAs may act as signals, guides or scaffolds for the chromatin to regulate the expression of target genes located in distant chromosomal domains or even in different chromosomes. (biomedcentral.com)
  • Using the Japan Sea species of threespine stickleback (Gasterosteus aculeatus), which has a neo-sex chromosome derived from a Y-autosome fusion, we found that incipient neo-X and neo-Y chromosomes have started to diverge in both coding and non-coding regions and to accumulate genes with sex-biased expression. (prelekara.sk)
  • Finally, the neo-X chromosome contributes to phenotypic divergence between the Japan Sea species and the ancestral Pacific Ocean species, but the causative genes were distributed broadly on the neo-X chromosome. (prelekara.sk)
  • Nineteen of these genes, including several that are closely linked, have been assigned to 10 separate autosomes, and one collagen gene has been mapped to the X chromosome. (elsevier.com)
  • Our data further demonstrate the complex arrangement of the many collagen genes in the human genome. (elsevier.com)
  • Our goal is to understand how the extra copy of chromosome 21 and its genes cause individuals with Down syndrome to have a greatly increased risk of developing dementia," said Huaxi Xu, Ph.D., professor in the Degenerative Diseases Program at Sanford-Burnham and senior author of the paper. (newswise.com)
  • Prader-Willi syndrome (PWS) is a disorder caused by a deletion or disruption of genes in the proximal arm of chromosome 15 or by maternal disomy in the proximal arm of chromosome 15. (medscape.com)
  • As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)
  • "Cannabis labeling is instead probably driven primarily by a small number of key terpenes whose concentrations contribute to the characteristic aromas commonly associated with Sativa and Indica and whose variation we genetically mapped to tandem arrays of terpene synthase genes on chromosomes 5 and 6. (hightimes.com)
  • Organization and transcriptional output of a novel mRNA-like piRNA gene (mpiR) located on mouse chromosome 10. (semanticscholar.org)
  • The translocation involved in this condition, written as t(9;22), fuses part of the ABL1 gene from chromosome 9 with part of the BCR gene from chromosome 22, creating an abnormal fusion gene called BCR-ABL1 . (medlineplus.gov)
  • The abnormal chromosome 22, containing a piece of chromosome 9 and the fusion gene, is commonly called the Philadelphia chromosome. (medlineplus.gov)
  • 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)
  • The most common epigenetic alteration in human cancer affecting gene expression is 5'-cytosine methylation within CpG islands in gene promoter regions [ 1 ]. (biomedcentral.com)
  • To determine the location of the corresponding gene, the cDNA clone was hybridized to rodent-human hybrid DNAs and to human metaphase chromosomes. (elsevier.com)
  • The results obtained using the hybrid cell lines showed that this newly identified collagen gene, COL15A1, is present in the pter → q34 region of chromosome 9. (elsevier.com)
  • These findings may be related to the triple expression by trisomic cells of the receptor for interferon, which is coded by a gene located on chromosome number 21. (nyu.edu)
  • More papers have been published on unintended outcomes and risks of gene editing in medical research on human and animal cells and laboratory animals, compared with plants. (gmwatch.org)
  • Moreover, the problems found with human and animal gene editing are increasingly being confirmed in plant gene editing. (gmwatch.org)
  • 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)
  • Myers MW, Lazzarini RA, Lee VM, Schlaepfer WW, Nelson DL: The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family. (t3db.ca)
  • FANCB is the one exception to FA being autosomal recessive , as this gene is on the X chromosome. (wikipedia.org)
  • For any biology geeks, this is due to a genetic change or mutation near a gene known as ALX4 on canine chromosome 18 [4] . (pawsomedogstuff.com)
  • In support of this idea are the linea that the colorectal tumor suppressor protein DCC has some structural homology to LAR438 and that the LAR gene maps to a linds on chromosome 1p32-33 that is thought e contain a breast cancer tumor sup- pressor gene. (qrforex.com)
  • eISSN: 2288-5943Ultrasonography 2016;35:281-288 During the last 15 years, traditional breast cancer classifications based on histopathology have been reorganized into the luminal A, luminal B, human epidermal growth factor receptor 2 (HER2), and basal-like subtypes based on gene expression profiling. (2medicalcare.com)
  • 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)
  • Fabry disease (FD) is a genetic disease, with X-chromosome linked inheritance, due to variants in the GLA gene that encodes the α-galactosidase A (α-GAL) enzyme. (bvsalud.org)
  • Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. (medlineplus.gov)
  • Down syndrome is characterized by an extra copy of chromosome 21 and is the most common chromosome abnormality in humans. (newswise.com)
  • With the current study, researchers can piece the entire process together-the extra copy of chromosome 21 causes elevated levels of miRNA-155 that in turn lead to reduced levels of SNX27. (newswise.com)
  • That extra copy of chromosome 21 results in a congenital disorder called Down syndrome, which is characterized by a cluster of specific traits including intellectual disabilities, atypical facial appearance, and a high risk of heart disease. (asu.edu)
  • European Journal of Human Genetics, 16(6):766-767. (uzh.ch)
  • Drosophila genetics, adult wild type, w.m. 22(f). (3bscientific.com)
  • They were selected from the outpatient clinic of the Human Genetics Department, Medical Research Institute, Alexandria University. (who.int)
  • More than 7% of human oocytes contain at least one exchangeless chromosome pair, demonstrating a remarkably high level of meiotic recombination failure, finds a study appearing December 10 in the American Journal of Human Genetics . (brightsurf.com)
  • American Journal of Human Genetics , Hassold et al. (brightsurf.com)
  • The American Journal of Human Genetics (@AJHGNews), published by Cell Press for the American Society of Human Genetics, is a monthly journal that provides a record of research and review relating to heredity in humans and to the application of genetic principles in medicine and public policy, as well as in related areas of molecular and cell biology. (brightsurf.com)
  • The genetics of BWS are complex, but evidence for genomic imprinting effects is present for each of the 3 major subgroups of patients (familial, sporadic, and those with chromosome anomalies) (see ref. 3 and references cited therein). (jci.org)
  • Part-IV: Human Genetics: 21. (knrnpublications.com)
  • Human molecular genetics 2012 Nov 21 (22): 4980-95. (cdc.gov)
  • Aspects of human genetics, with special reference to X-linked disorders / volume editors, C. San Rom'an Cos-Gay'on, A. McDermott. (who.int)
  • European Society of Human Genetics. (who.int)
  • A team of researchers at the Max Planck Institute for Molecular Genetics and Charité - Universitätsmedizin Berlin led by human geneticists Malte Spielmann and Stefan Mundlos analyzed clinical samples from patients with genetic developmental disorders with the Hi-C method. (mpg.de)
  • As the team led by human geneticists Stefan Mundlos and Malte Spielmann describe in the current issue of The American Journal of Human Genetics , a method from basic research could improve clinical diagnostics considerably at some point in the future. (mpg.de)
  • The induction of chromosomal aberrations in human pleural mesothelial cells by asbestos (1332214) was studied in-vitro. (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)
  • 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)
  • The authors conclude that amosite and glass fibers induce chromosome aberrations in human pleural mesothelial cells. (cdc.gov)
  • Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)
  • Chromosome 22 is the second smallest human chromosome, spanning more than 51 million DNA building blocks (base pairs) and representing between 1.5 and 2 percent of the total DNA in cells. (medlineplus.gov)
  • People with ring chromosome 22 have one copy of this abnormal chromosome in some or all of their cells. (medlineplus.gov)
  • A rearrangement (translocation) of genetic material between chromosomes 9 and 22 causes a type of cancer of blood-forming cells called chronic myeloid leukemia. (medlineplus.gov)
  • Cells prefer to have matching pairs of chromosomes, with an even number in total. (thetech.org)
  • Usually the total chromosome count was determined in 10-15 cells, but if mosaicism was suspected then 30 or more cell counts were undertaken [10]. (who.int)
  • It involves two rounds of division that ultimately result in four cells with only one copy of each paternal and maternal chromosome. (brightsurf.com)
  • But the magnitude of the effect has not been clear, because until now, there had been no attempt to directly measure the incidence of exchangeless chromosomes in a large series of human oocytes--immature egg cells. (brightsurf.com)
  • Future challenges in the generation of hepatocyte like cells from human pluripotent stem cells. (uio.no)
  • Low-dose acetaminophen induces early disruption of cell-cell tight junctions in human hepatic cells and mouse liver. (uio.no)
  • Small molecule directed hepatocytes like cells differentiation of human pluripotent stem cells. (uio.no)
  • Small molecule driven hepatocyte differentiation of human pluripotent stem cells. (uio.no)
  • 2013) Modelling human disease with pluripotent stem cells. (uio.no)
  • 00:03:37.700 Now, when his germ line cells form sperm, what is going to happen is segregation of homologous chromosomes. (educator.com)
  • 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)
  • Alternatively, the high number of 'immature' NK cells of DS, possibly identical with pre-T lymphocytes, may originate from the congenital thymic derangement associated with trisomy 21. (nyu.edu)
  • Asbestos -Induced Mesothelioma and Chromosomal Abnormalities in Human Mesothelial Cells In Vitro. (cdc.gov)
  • Altered cells had a modal chromosome number of 45 and lacked the Y- chromosome. (cdc.gov)
  • The studies listed below are on human and animal cells, laboratory animals, livestock animals, and plants. (gmwatch.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)
  • Induction of local tissue regeneration in the human would best be accomplished if the patient's own cells at the desired site could be caused to dedifferentiate into the required embryonic stem cells. (earthpulse.net)
  • In addition to a major antibiotic effect, the technique was found to produce the regeneration of all local tissues, apparently by stimulating dedifferentiation of mature human cells. (earthpulse.net)
  • Humans normally have 46 chromosomes (23 pairs) in each cell. (medlineplus.gov)
  • Two copies of chromosome 22, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. (medlineplus.gov)
  • To determine the overall proportion of human oocytes containing one or more exchangeless chromosomes, they counted chromosome pairs that lacked the crossover-associated protein MLH1. (brightsurf.com)
  • 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)
  • In a "reciprocal translocation", two different chromosomes swap pieces. (thetech.org)
  • April 21, 2000. (eutherialab.org)
  • El Grupo de Expertos Independientes en teléfonos Móviles (2000), sin embargo, declara en su informe que: ' En general los estudios reportan un aumento moderado de la actividad ODC sólo a frecuencias moduladas de cerca de 10-60 Hz. (rfcom.ca)
  • In fact, when you compare human and chimpanzee chromosomes, you can pretty easily see how chromosomes 12 and 13 of chimpanzees stuck together to give our chromosome 2. (thetech.org)
  • It is so obvious that scientists have renamed these chimpanzee chromosomes 2a and 2b! (thetech.org)
  • When you line up human (H) and chimpanzee (C) chromosomes, it quickly becomes obvious that our #2 comes from a fusion of two chimpanzee ones. (thetech.org)
  • This molecular model involves the hypothetical fusion of two small acrocentric chimpanzee-like chromosomes (2A and 2B) at some ancient point in the human evolutionary lineage. (creation.com)
  • The data actually suggest that the core ~800 bp region containing the fusion site is not a unique cryptic and degenerate head-to-head fusion of telomeres, but a distinct motif that is represented throughout the human genome with no orthologous counterpart in the chimpanzee genome on either chromosome 2A or 2B. (creation.com)
  • In addition, no ortholog for a cryptic centromere homologous to the alphoid sequence at human chromosome 2 exists on chimpanzee chromosomes 2A and 2B. (creation.com)
  • 1 The corresponding chromosomes supposedly represented in the great apes are 2A and 2B in the chimpanzee genome. (creation.com)
  • Depiction of a hypothetical scenario where chimpanzee chromosomes 2A and 2B supposedly fuse to form human chromosome 2. (creation.com)
  • GARDINER, K. J. Transcript catalogs of human chromosome 21 and orthologous chimpanzee and mouse regions. (bvsalud.org)
  • The findings suggest that right from the get-go of human egg cell development, a striking proportion of oocytes are predestined to be chromosomally abnormal. (brightsurf.com)
  • We have known for a long time that advancing maternal age increases the likelihood of chromosomally abnormal eggs, but this observation demonstrates that many chromosome errors have nothing to do with maternal age. (brightsurf.com)
  • Recombination failure is a leading cause of aneuploidy, which is the presence of an abnormal number of chromosomes. (brightsurf.com)
  • Trisomy occurs when abnormal cell division takes place leading to an extra copy of a chromosome. (asu.edu)
  • Comparison of the structure and protein-coding potential of Mouse chromosome 16 (Mmu 16) with that of the homologous segments of the human genome identifies regions of conserved synteny with human chromosomes (Hsa) 3, 8, 12, 16, 21, and 22. (harvard.edu)
  • Telomeres are end-cap DNA repeat motifs (TTAGGG) n located at the termini of linear mammalian chromosomes, recently reviewed by Tomkins and Bergman. (creation.com)
  • 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 in Human Lymphocytes. (epa.gov)
  • In Vitro Mammalian Chromosome Aberration Test with Dimethylsilanediol (DMSD). (epa.gov)
  • Results of an In Vitro Mammalian Chromosomal Aberration Test in Human Lymphocytes with Carbonothioic Dihydrazide. (epa.gov)
  • 2016 Jan 22. (medscape.com)
  • Research Received: June 23, 2016 linking the imaging phenotype with the molecular subtype has revealed that non-calcified, Revised: July 19, 2016 relatively circumscribed masses with posterior acoustic enhancement are common in the basal- Accepted: July 21, 2016 like subtype, spiculated masses with a poorly circumscribed margin and posterior acoustic Correspondence to:Nariya Cho, MD, Department of shadowing in the luminal subtype, and pleomorphic calcifications in the HER2-enriched subtype. (2medicalcare.com)
  • But the frequency of exchangeless chromosomes is not affected by maternal age. (brightsurf.com)
  • Prior to division, genetic material from the paternal and maternal copies of each chromosome is exchanged through a process called meiotic recombination or crossing over. (brightsurf.com)
  • Maybe the maternal chromosome 2 will end up in there. (educator.com)
  • Chromosome Aberration Test in Human Lymphocytes In Vitro. (epa.gov)
  • Secreted Wnt signaling antagonists have recently been described as frequent targets of epigenetic inactivation in human tumor entities. (biomedcentral.com)
  • One of the best studied processes being associated with lncRNAs is the X-chromosome inactivation: A single X-inactivation center (Xic) of about 100-500 kbps in length [ 11 , 12 ] is necessary and sufficient for X-chromosome inactivation [ 11 , 13 ]. (jcancer.org)
  • This is a 17-20 kbps long RNA that tags the X-chromosome during early X-chromosome inactivation [ 11 , 12 ]. (jcancer.org)
  • The first is X chromosome inactivation. (coursera.org)
  • In the case of female X chromosome inactivation, that actually occurs within the first couple weeks of embryonic development. (coursera.org)
  • Mural RJ et al, A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. (harvard.edu)
  • The smallest autosomes (i.e., chromosomes 21 and 22) are most likely to exhibit recombination failure. (brightsurf.com)
  • 8. CharlesworthD, CharlesworthB (1980) Sex differences in fitness and selection for centric fusions between sex-chromosomes and autosomes. (prelekara.sk)
  • 5. VicosoB, BachtrogD (2013) Reversal of an ancient sex chromosome to an autosome in Drosophila. (prelekara.sk)
  • 13. PresgravesDC (2008) Sex chromosomes and speciation in Drosophila. (prelekara.sk)
  • Not all PWMs predict TFBS correlated with human promoter sequences. (biomedcentral.com)
  • The alphoid sequences in this region are quite variable and do not cluster with known functional human centromeric sequences. (creation.com)
  • We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26 worldwide populations by the 1000 Genomes Project. (nature.com)
  • An international research team led by Martin Petr and Janet Kelso of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, has determined Y chromosome sequences of three Neandertals and two Denisovans. (brightsurf.com)
  • Spe- or in personal-care homes or from persons hospitalized cifi c primers were designed near the ends of neighboring in smaller community hospitals, whereas, for surveillance contigs (contiguous sequence of DNA created by overlap- purposes, the Saskatchewan Disease Control Laboratory ping sequenced fragments of a chromosome), and PCRs receives isolates from all colonized and infected persons were performed with chromosomal template DNA. (cdc.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 22. (medlineplus.gov)
  • A calibrated human Y-chromosomal phylogeny based on resequencing. (nature.com)
  • Many FA patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay showing increased chromosomal breaks can make the diagnosis. (wikipedia.org)
  • The researchers applied a method called 'Hi-C' (High-throughput Chromosome Conformation Capture) to samples from patients with developmental disorders suspected to be caused by chromosomal rearrangements. (mpg.de)
  • The classical analysis of chromosomal defects is done by a karyogram, which is a microscopic view of stained chromosomes. (mpg.de)
  • 1986), a human cell micronucleus assay (Budinsky et al. (europa.eu)
  • Sites like [https://www.gedmatch.com/login1.php GEDmatch] make this shared chromosome data available. (gramps-project.org)
  • They belong to a variety of different GH families, such as glycoside hydrolase family 15 in fungi, glycoside hydrolase family 31 of human MGAM , and glycoside hydrolase family 97 of bacterial forms. (wikipedia.org)
  • The duplication affects one of the two copies of chromosome 22 in each cell. (medlineplus.gov)
  • 00:03:44.600 One cell will end up with one chromosome 1 and a chromosome 2, instead of two copies of each. (educator.com)
  • Everyone has two copies of the human genome: One inherited from their biological mother and one from the biological father. (cnn.com)
  • While all DNA is stained blue, a specific sequence stained pink appears duplicated in one of the two copies of chromosome 17, but not the other. (mpg.de)
  • A technique was described which used sister chromatid exchanges (SCEs) in human peripheral blood lymphocyte cultures to assess the genotoxic potential of vapors. (cdc.gov)
  • Chromosome staining and hybridization techniques do not provide detailed DNA sequence information, but rather indicate putative areas of homology. (creation.com)
  • The researchers found a surprisingly high level of recombination failure, with more than 7% of oocytes containing at least one exchangeless chromosome pair. (brightsurf.com)
  • Our analysis of the available genomic data shows that the sequence features encompassing the purported chromosome 2 fusion site are too ambiguous to accurately infer a fusion event. (creation.com)
  • While the chromosome 2 fusion model has been routinely discussed in reviews of human evolution, very little new supporting genomic data, although readily available for analysis, has been forthcoming. (creation.com)
  • Sex Chromosome Turnover Contributes to Genomic Dive. (prelekara.sk)
  • Although there are many examples of such sex chromosome turnover, we know little about the functional roles of sex chromosome turnover in phenotypic diversification and genomic evolution. (prelekara.sk)
  • These results suggest that neo-sex chromosome formation may create a genomic location where mutations causing inter-species differences can accumulate, thereby promoting phenotypic divergence between incipient species. (prelekara.sk)
  • Sex Chromosome Turnover Contributes to Genomic Divergence between Incipient Stickleback Species. (prelekara.sk)
  • Prader-Willi syndrome is the first human disorder attributed to genomic imprinting. (medscape.com)
  • A set of 56 SNP locus/phenotype associations was identified and the genomic regions harboring these loci were distributed over nine of the 12 eggplant chromosomes. (biomedcentral.com)
  • The deletion occurs near the middle of the chromosome at a location designated as q11.2. (medlineplus.gov)
  • A ring chromosome is a circular structure that occurs when a chromosome breaks in two places, the tips of the chromosome are lost, and the broken ends fuse together. (medlineplus.gov)
  • Transcriptional landscape of the human and fly genomes: nonlinear and multifunctional modular model of transcriptomes. (semanticscholar.org)
  • The advent of high-throughput DNA sequencing and its accompanying technologies has largely replaced these earlier technologies for comparing both chromosomes and genomes. (creation.com)
  • In what ways can human genomes differ? (coursera.org)
  • 00:01:40.700 And we are going to say that the purple chromosomes were maternally inherited, and the green are of paternal origin. (educator.com)
  • For example, wild mice have many different combinations of chromosomes because their chromosomes can so easily stick together. (thetech.org)
  • SNX27's role in brain function Previously, Xu and colleagues found that SNX27 deficient mice shared some characteristics with Down syndrome, and that humans with Down syndrome have significantly lower levels of SNX27. (newswise.com)
  • or each of these agents, carcinogenicity in rats and/or mice, els, differences in exposure con- there was sufficient evidence of car- for example for the liver (aflatoxins, ditions between studies in animals cinogenicity from studies in rats and/ trichloroethylene [TCE], and vinyl and in humans, or limitations in Part 1 · Chapter 1. (who.int)
  • 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)
  • Altogether, this provides strong evidence for an epigenetically disrupted and thereby activated Wnt signaling pathway in the development of human breast cancer. (biomedcentral.com)
  • Compared with the corresponding normal tissue, LGR5 is over expressed in human primary colon cancer, ovarian cancer, hepatocellular carcinoma [3] [4] , suggesting that there is a certain correlation between LGR5 and tumor. (scirp.org)
  • Cancer remodels the architecture of our chromosomes so the disease can take hold and spread, new research reveals. (brightsurf.com)
  • J Natl Cancer Inst 100 (21): 1542-51, 2008. (cancer.gov)
  • Human papillomavirus ( HPV ) infection must be present for cervical cancer to occur. (medscape.com)
  • Recognition of the etiologic role of human papillomavirus ( HPV ) infection in cervical cancer has led to the recommendation of adding HPV testing to the screening regimen in women 30-65 years of age (see Workup). (medscape.com)
  • 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)
  • To address this knowledge gap, Hassold and his collaborators conducted a large population-based analysis of exchangeless chromosomes in the fetal ovary. (brightsurf.com)
  • A global reference for human genetic variation. (nature.com)
  • Out of Africa and back again: nested cladistic analysis of human Y chromosome variation. (nature.com)
  • Inherited variation at chromosome 12p13.33, including RAD52, influences the risk of squamous cell lung carcinoma. (cdc.gov)
  • 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is caused by a deletion near the end of the long (q) arm of chromosome 22. (medlineplus.gov)
  • A ring chromosome 22 can also cause 22q13.3 deletion syndrome. (medlineplus.gov)
  • The researchers went on to reveal how lower levels of SNX27 in Down syndrome are the result of an extra copy of an RNA molecule encoded by chromosome 21 called miRNA-155. (newswise.com)
  • Approximately 70% of Prader-Willi syndrome cases arise from deletion of band 15q11-13 on chromosome 15. (medscape.com)
  • In-depth analysis of three mutants, Krt76, Myo5a (a model of human Griscelli syndrome) and Mysm1 , provides validation of the screen. (nature.com)
  • Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. (medscape.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)
  • Simple and rapid screen for human pluripotent stem cell endoderm differentiation potential. (uio.no)
  • Development of a rapid screen for the endodermal differentiation potential of human pluripotent stem cell lines. (uio.no)
  • 00:03:50.200 The other cell will end up with a chromosome 1, the large chromosome and chromosome 2. (educator.com)
  • regulator TET1 is highly expressed in T-cell ALL and is crucial for human T-ALL cell growth in vivo(19). (cdc.gov)
  • Seminars in Cell and Developmental Biology, 22 (8). (sussex.ac.uk)
  • The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. (solutionsclass.com)
  • 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)
  • In a female who has two X chromosomes sometime early in development, randomly in each cell, at that particular point in development, one of her chromosomes becomes inactive. (coursera.org)
  • And the chromosome X that becomes inactive in that cell is actually stably inactive. (coursera.org)
  • That is, every cell that derives from that initial cell will have the same X chromosome inactive. (coursera.org)
  • 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)
  • Moving forward, the researchers will search for genetic variants that may affect the likelihood of having exchangeless chromosomes. (brightsurf.com)
  • With technology that's being used for genetic sequencing these days, it's not possible to say which variants on the chromosome you inherited from which parent. (cnn.com)
  • Because it results in an unpaired chromosome, people with this odd number of chromosomes have a higher rate of miscarriages, and may have more trouble having kids. (thetech.org)
  • Our results indicate that quite the contrary, many of these chromosome errors are simply hardwired into human biology. (brightsurf.com)
  • We have isolated a 2.1-kb human cDNA clone coding for a collagen molecule different in sequence and structure from types I-XIV collagens. (elsevier.com)
  • Giant chromosomes from salivary gland of Chironomus, squash preparation stained for chromomeres 11(f). (3bscientific.com)
  • In human physiology, both the salivary and pancreatic amylases are α-amylases. (wikipedia.org)
  • 22q11.2 duplication is caused by an extra copy of some genetic material at position q11.2 on chromosome 22. (medlineplus.gov)
  • It is obvious that disturbances in such powerful regulation mechanisms can propagate the development of numerous human diseases. (jcancer.org)
  • Regulation of msl2 translation is a key step in the modulation of X-chromosome dosage compensation. (upf.edu)
  • The Human Genome Project (HGP) was begun in 1990 and declared complete in 2003. (coursera.org)
  • If the break point on the long arm is at chromosome position 22q13.3, people with ring chromosome 22 will experience similar signs and symptoms as those with a simple deletion. (medlineplus.gov)
  • Approximately 50% of patients have a detectable cytogenetic abnormality, most commonly a deletion of all or part of chromosome 5 or 7, or trisomy 8. (cancer.gov)
  • Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. (medscape.com)
  • Current Biology, 21 (13). (sussex.ac.uk)
  • But Fuentes has moved on to going after other aspects of biology, and in the article above he commits what I see as the cardinal sin of woke scientists who should know better: denying that, in humans at least, sex is a binary. (whyevolutionistrue.com)
  • Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts. (mpg.de)
  • Primary human fibroblasts were treated with 0 to 6.67microg/cm2 amosite for comparison. (cdc.gov)
  • The Y-chromosome point mutation rate in humans. (nature.com)
  • Deep phylogenetic analysis of haplogroup G1 provides estimates of SNP and STR mutation rates on the human Y-chromosome and reveals migrations of Iranic speakers. (nature.com)
  • We further found that non-synonymous mutation rates are elevated on the neo-X chromosome in the Japan Sea lineage. (prelekara.sk)
  • 11. BlaserO, GrossenC, NeuenschwanderS, PerrinN (2013) Sex chromosome turnovers induced by deleterious mutation load. (prelekara.sk)
  • 00:03:10.600 And on the chromosome 1 from dad where eye color is, this individual inherited blue-eyed allele. (educator.com)
  • 00:03:24.600 Chromosome 2, say mom was tall, and dad donated the short allele, so this individual is heterozygous for both eye color and height. (educator.com)
  • About 2% of FA cases are X-linked recessive, which means that if the mother carries one mutated Fanconi anemia allele on one X chromosome , a 50% chance exists that male offspring will present with Fanconi anemia. (wikipedia.org)
  • Given these implications, the ability to evaluate the status of the human body quantitatively based upon ANS functional status becomes critical for a myriad of reasons. (bodyhealthanalyzer.com)