Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome Banding: Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Sex Chromosomes: The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, 6-12 and X: The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Chromosomes, Artificial, Bacterial: DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosome Painting: A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Chromosomes, Artificial, Yeast: Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Chromosomes, Human, 21-22 and Y: The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Chromosome Inversion: An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.X Chromosome Inactivation: A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.Centromere: The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.Meiosis: A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Hybrid Cells: Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Aneuploidy: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).Metaphase: The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.Mitosis: A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Nucleic Acid Hybridization: Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Nondisjunction, Genetic: The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Chromosomes, Artificial, Human: DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.Telomere: A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Chromosome Walking: A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Chromosomal Proteins, Non-Histone: Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Repetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Spindle Apparatus: A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.DNA Probes: Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.DNA, Satellite: Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Chromatids: Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Genetic Variation: Genotypic differences observed among individuals in a population.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.DNA Replication: The process by which a DNA molecule is duplicated.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Abnormalities, MultipleDNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Prophase: The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.Interphase: The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Karyotype: The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Cytogenetic Analysis: Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.Chromatin: The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.Cytogenetics: A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Cell Line: Established cell cultures that have the potential to propagate indefinitely.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Chromosome Fragile Sites: Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Sequence Tagged Sites: Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Spermatocytes: Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Cell Nucleus: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Genes, Bacterial: The functional hereditary units of BACTERIA.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.DNA Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.Homozygote: An individual in which both alleles at a given locus are identical.Philadelphia Chromosome: An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Ploidies: The degree of replication of the chromosome set in the karyotype.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Base Pairing: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.Gene Amplification: A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Genomic Imprinting: The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)Sex Chromatin: In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.DNA, Neoplasm: DNA present in neoplastic tissue.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Histones: Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Syndrome: A characteristic symptom complex.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Sister Chromatid Exchange: An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.Bacterial Proteins: Proteins found in any species of bacterium.Chromosomes, Artificial: DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Gene Library: A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.Nucleic Acid Conformation: The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Triticum: A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.Genes, Y-Linked: Genes that are located on the Y CHROMOSOME.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.Genomic Library: A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.

Interactions between Tat and TAR and human immunodeficiency virus replication are facilitated by human cyclin T1 but not cyclins T2a or T2b. (1/852)

The transcriptional transactivator (Tat) from the human immunodeficiency virus (HIV) does not function efficiently in Chinese hamster ovary (CHO) cells. Only somatic cell hybrids between CHO and human cells and CHO cells containing human chromosome 12 (CHO12) support high levels of Tat transactivation. This restriction was mapped to interactions between Tat and TAR. Recently, human cyclin T1 was found to increase the binding of Tat to TAR and levels of Tat transactivation in rodent cells. By combining individually with CDK9, cyclin T1 or related cyclins T2a and T2b form distinct positive transcription elongation factor b (P-TEFb) complexes. In this report, we found that of these three cyclins, only cyclin T1 is encoded on human chromosome 12 and is responsible for its effects in CHO cells. Moreover, only human cyclin T1, not mouse cyclin T1 or human cyclins T2a or T2b, supported interactions between Tat and TAR in vitro. Finally, after introducing appropriate receptors and human cyclin T1 into CHO cells, they became permissive for infection by and replication of HIV.  (+info)

Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect. (2/852)

Spinocerebellar ataxia type 2 is a familial spinocerebellar ataxia with autosomal dominant inheritance. The gene responsible was recently cloned and this disorder was found to be the result of a CAG expansion in its open reading frame. We analysed 13 SCA2 patients in seven unrelated families in Gunma Prefecture, Japan. In four of the seven families, we detected CCG or CCGCCG interruptions in only the expanded alleles. Cosegregation of these polymorphisms with SCA2 patients was established within each family. Together with the results of haplotype analyses, we considered that at least two founders were present in our area and that these (CCG)1-2 polymorphisms may make analysis of founder effects easier. By sequencing analysis we found that although the number of the long CAG repeat varied in each subclone of expanded alleles, these polymorphisms did not change their configuration. This finding suggests that CCG or CCGCCG sequences are stable when surrounded by the long CAG repeat and a single CAG. Moreover, the presence of these polymorphisms may lead to miscounting the repeat size by conventional estimation using a size marker such as an M13 sequencing ladder. Therefore we should consider these polymorphisms and accurately determine the repeat size by sequencing.  (+info)

Unique forms of human and mouse nuclear receptor corepressor SMRT. (3/852)

Nuclear hormone receptors have been shown to repress transcription in the absence of ligand. This repression is mediated by a corepressor complex that contains the Sin3A protein and histone deacetylases (HDAC1 and 2). Studies by several groups demonstrate that this complex is recruited to nuclear receptors through the highly related corepressors SMRT (silencing mediator of retinoid acid and thyroid hormone receptor) and N-CoR (nuclear receptor corepressor). We describe here the cloning, characterization, and chromosomal mapping of forms of human and mouse SMRT that includes a 1,000-aa extension, which reveals striking homology to the amino terminus of N-CoR. Structure and function studies of wild-type and natural splicing variants suggest the presence of 3-4 amino terminal domains that repress in a cooperative as well as mechanistically distinct fashion.  (+info)

Structure and chromosomal assignment of the human lectin-like oxidized low-density-lipoprotein receptor-1 (LOX-1) gene. (4/852)

We have reported the cDNA cloning of a modified low-density-lipoprotein (LDL) receptor, designated lectin-like oxidized LDL receptor-1 (LOX-1), which is postulated to be involved in endothelial dysfunction and the pathogenesis of atherosclerosis. Here, we determined the organization of the human LOX-1 gene, including the 5'-regulatory region. The 5'-regulatory region contained several potential cis-regulatory elements, such as GATA-2 binding element, c-ets-1 binding element, 12-O-tetradecanoylphorbol 13-acetate-responsive element and shear-stress-responsive elements, which may mediate the endothelium-specific and inducible expression of LOX-1. The major transcription-initiation site was found to be located 29 nucleotides downstream of the TATA box and 61 nucleotides upstream from the translation-initiation codon. The minor initiation site was found to be 5 bp downstream from the major site. Most of the promoter activity of the LOX-1 gene was ascribed to the region (-150 to -90) containing the GC and CAAT boxes. The coding sequence was divided into 6 exons by 5 introns. The first 3 exons corresponded to the different functional domains of the protein (cytoplasmic, transmembrane and neck domains), and the residual 3 exons encoded the carbohydrate-recognition domain similar to the case of other C-type lectin genes. The LOX-1 gene was a single-copy gene and assigned to the p12.3-p13.2 region of chromosome 12. Since the locus for a familial hypertension has been mapped to the overlapping region, LOX-1 might be the gene responsible for the hypertension.  (+info)

Evaluation of trisomy 12 by fluorescence in situ hybridization in peripheral blood, bone marrow and lymph nodes of patients with B-cell chronic lymphocytic leukemia. (5/852)

BACKGROUND AND OBJECTIVE: Trisomy 12 is the most common numerical chromosomal aberration in patients with B-cell chronic lymphocytic leukemia (B-CLL). Fluorescence in situ hybridization (FISH) has improved the detection of this cytogenetic abnormality and has made detection possible in all phases of the cell cycle. The presence of the trisomy 12 positive (+12) cell population has generally been investigated in leukemic cells obtained from the peripheral blood of CLL patients. To ascertain whether trisomy 12 is expressed homogeneously in cells of different hemopoietic tissues, we applied FISH to lymph node, peripheral blood and bone marrow samples obtained simultaneously from 23 untreated B-CLL patients. DESIGN AND METHODS: Twenty-three newly diagnosed patients with B-CLL, 15 in stage B and 8 in stage C, were included in the present study. Peripheral blood smears, bone marrow aspirate smears and lymph node touch imprints were collected from each patient at diagnosis. Cytologic preparations were examined by light microscopy in order to assess the lymphocyte morphology. Immunophenotyping was performed by cytofluorimetric analysis of the peripheral blood, bone marrow and lymph node mononuclear cell suspensions. The diagnosis was supported in all cases by histologic findings in bone marrow biopsy and lymph node biopsy specimens. Fluorescence in situ hybridization was performed on smears of blood and aspirated bone-marrow and lymph node touch imprints obtained by fresh tissue apposition. RESULTS: In 6 of the 23 cases (26%) trisomy 12 was clearly present in all tissues examined. A comparative analysis of the three different hemopoietic tissues was performed. A higher percentage of leukemic CD5+CD23+ cells was detected in lymph nodes than in peripheral blood and bone marrow. A significantly higher proportion of trisomic cells was observed in lymph nodes samples than in peripheral blood or bone marrow smears of trisomy 12 positive CLL patients. INTERPRETATION AND CONCLUSIONS: Several previous reports show that only a proportion of malignant B-CLL cells carry trisomy 12 when analyzed by interphase FISH. The higher proportion of +12 cells in lymph nodes than in peripheral blood or bone marrow of CLL patients with trisomy 12 could reflect different cell distributions in different tissues, or lymph node specific tropism, or proliferative advantage in selected tissue. At present, the role of trisomy 12 in the pathogenesis of lymphoproliferative disorders is unclear.  (+info)

Association and linkage analysis of candidate chromosomal regions in multiple sclerosis: indication of disease genes in 12q23 and 7ptr-15. (6/852)

Four recent genome-wide screen studies in multiple sclerosis (MS) identified a number of candidate regions for susceptibility genes in addition to the HLA complex in 6p21. However, none of these regions provided formally significant evidence for genome-wide linkage. We have investigated such regions in 46 Swedish multiplex MS families, 28 singleton families, 190 sporadic MS patients and 148 normal controls by parametric and nonparametric linkage and association analysis. One microsatellite marker, in 12q23, provided evidence for association in addition to suggestive transmission distortion and slightly positive linkage. In addition, a marker in 7ptr-15 showed a significant transmission distortion as well as a highly significant score in affected pedigree member analysis, but not quite significant deviations in association analysis. One of three markers in 5p, a region implicated in all four previous studies, showed a weakly positive lod score, but no other evidence of importance. Markers in 2p23, 5q11-13, 6q25, 7q21-22, 11q21-23, 13q33-34, 16p13.2, 18p11.32-23, Xp21.3 provided little or no evidence of importance for MS. In summary, these data support the importance of genome-wide screens in the identification of new candidate loci in polygenic disorders.  (+info)

Structural organization and splice variants of the POLE1 gene encoding the catalytic subunit of human DNA polymerase epsilon. (7/852)

The catalytic subunit of human DNA polymerase epsilon, an enzyme involved in nuclear DNA replication and repair, is encoded by the POLE1 gene. This gene is composed of 51 exons spanning at least 97 kb of genomic DNA. It was found to encode three alternative mRNA splice variants that differ in their 5'-terminal sequences and in the N-termini of the predicted proteins. A CpG island covers the promoter region for the major transcript in HeLa cells. This promoter is TATA-less and contains several putative binding sites for transcription factors typical of S-phase-up-regulated and serum-responsive promoters. Potential promoter regions were also identified for the two other alternative transcripts. Interestingly, no nuclear polyadenylation signal sequence was detected in the 3'-untranslated region, although a poly(A) tail was present. These results suggest a complicated regulatory machinery for the expression of the human POLE1 gene, including three alternative transcripts expressed from three promoters.  (+info)

Pathogenesis of testicular germ cell tumours. (8/852)

Human germ cell tumours comprise a heterogeneous group of neoplasms. In the testis, three entities are distinguished, the teratomas-yolk sac tumours of the infantile testis, the seminomas and nonseminomas of adolescents and adults, and the spermatocytic seminomas. Studies on epidemiology, histology, clinical behaviour, and chromosomal constitution of these tumours support the concept of distinct entities derived from germ cells but each with a different pathogenesis. Either the teratomas of the infantile testis show no chromosomal aberrations, or display a pattern of over- and under-representation of (parts of) chromosomes as detected in the yolk sac tumours of the infantile testis. In contrast, the seminomas and nonseminomas reveal a consistent pattern of losses and gains, that is, chromosomes 11, 13 and 18, and 7, 8 and X, respectively, that is different from that found in the infantile testis teratomas and yolk sac tumours. The most consistent structural chromosomal abnormality is an isochromosome 12p. Tumours lacking i(12p) have other structural abnormalities of 12p, among them amplification of 12p11.2-p12.1. The pathogenetically relevant genes on 12p11.2-p12.1 are probably on a fragment of about 1.7 mb. Gain of 12p sequences may be related to invasive growth. Gain of chromosome 9 is the only consistent chromosomal anomaly of spermatocytic seminomas. Infantile teratomas and spermatocytic seminomas are benign tumours. Infantile yolk sac tumour is a malignant germ cell tumour. Seminomas and nonseminomas are malignant, and the most common cancer in young Caucasian males. The cure rate of seminomas and non-seminomas with radio- and chemotherapy is over 90%, which is higher than that of any other solid cancer in adults. In addition, the precursor lesions of these tumours can be treated readily, justifying efforts to develop means for early diagnosis. Finally, the pathogenetic relationship between seminomas and nonseminomas, and the available animal models for the three groups of testicular germ cell tumours are discussed.  (+info)

*Opisthorchis viverrini

... viverrini have twelve (six pairs of) chromosomes, i.e. 2n = 12. The draft genome and transcriptomes was published in 2014. Its ... In humans,O. viverrini inhabits mainly the bile ducts and, rarely, the gall bladder and pancreatic duct. Heavy infection can ... The first human specimen was described by a British parasitologist Robert Thomson Leiper in 1915, but without knowing the exact ... The first human case was discovered by Robert Thomson Leiper in 1915. O. viverrini (together with Clonorchis sinensis and ...

*Coiled-coil domain-containing 37 (FLJ40083)

The human gene CCDC37 is found on chromosome 3 at the band 3q21.3. It extends from base pairs 90,403,731 to 90,429,231, making ... There is only one paralog for CCDC37 found in humans, CCDC38. CCDC38 is located on chromosome 12. The ortholog space of CCDC37 ... Coiled-coil domain-containing 37, also known as FLJ40083, is a protein that in humans is encoded by the CCDC37 gene (3q21.3). ... "CCDC38 coiled-coil domain containing 38 [Homo sapiens (human)] - Gene". Ncbi.nlm.nih.gov. Retrieved 2015-03-07. Dinkel, H. The ...

*CD99

"Homologous expressed genes in the human sex chromosome pairing region". Nature. 317 (6039): 739-41. doi:10.1038/317739a0. PMID ... CD99 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) Human CD99 genome location and CD99 ... a gene shared by the human X and Y chromosomes". Cold Spring Harb. Symp. Quant. Biol. 51 (1): 205-12. doi:10.1101/SQB.1986.051. ... Unusually for a gene present on the X chromosome, the CD99 gene does not undergo X inactivation, and it was the first such ...

*C12orf40

In humans, the gene for C12orf40 is located on chromosome 12. There are 13 exons in the highest quality isoform, forming an ... mRNA of 2797 base pairs. Three other isoforms have been isolated. Homologs exist as distant as the green sea turtle and ... The human C12orf40 protein is 652 amino acids in length. Its molecular weight is predicted to be 74.52 kDa, and its isoelectric ... Kenta Nakai, Human Genome Center, Institute for Medical Science, University of Tokyo, Japan.[2] Edgar, R. (1 January 2002). " ...

*Chimpanzee genome project

Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very similar. The primary difference is that humans have one fewer pair of chromosomes ... Human evolutionary genetics Human chromosome 2 Human Genome Project McConkey EH (2004). "Orthologous numbering of great ape and ... producing human chromosome 2. There are nine other major chromosomal differences between chimpanzees and humans: chromosome ...

*CTNS (gene)

CTNS is located on the p arm of human chromosome 17, at position 13.2.[5] It spans base pairs 3,636,468 and 3,661,542, and ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... "American Journal of Human Genetics. 63 (5): 1352-62. doi:10.1086/302118. PMC 1377545. PMID 9792862.. ... "American Journal of Human Genetics. 69 (4): 712-21. doi:10.1086/323484. PMC 1226058. PMID 11505338.. ...

*C11orf86

"Human PubMed Reference:". "Mouse PubMed Reference:". "C11orf86 chromosome 11 open reading frame 86 [Homo sapiens (human)] - ... C11orf86 is located on the long arm of chromosome 11 at 11q13.2. It consists of 1732 base pairs, and is found on the plus ... Chromosome 11 open reading frame 86, also known as C11orf86, is a protein-coding gene in humans. It encodes for a protein known ... The transcript used for this article is made up of two exons, amounting to 1185 base pairs, and has the reference number NM_ ...

*CTNS (gene)

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

*ERBB3

The human ERBB3 gene is located on the long arm of chromosome 12 (12q13). It is encoded by 23,651 base pairs and translates ... During human development, ERBB3 is expressed in skin, bone, muscle, nervous system, heart, lungs, and intestinal epithelium. ... Receptor tyrosine-protein kinase erbB-3, also known as HER3 (human epidermal growth factor receptor 3), is a membrane bound ... ERBB3 is expressed in normal adult human gastrointestinal tract, reproductive system, skin, nervous system, urinary tract, and ...

*FAM71F2

The gene paralog FAM71F1 and the gene LINC01000 directly neighbor FAM71F2 on chromosome 7. The gene spans 30,627 base pairs and ... FAM71F2 gene is located on chromosome 7 in humans (7q32.1), starting at 128,671,636 and ending at 128,702,262 on the positive ... The time of divergence between eight orthologs from the human FAM71F2 is shown in Figure 5. It is not found in birds or in ... Isoform a is the longest of the mRNA transcripts and spans 5,775 base pairs that translates into a 309 amino acids sequence. It ...

*PRR29

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

*Duffy antigen system

DARC protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) Duffy at BGMUT Blood Group Antigen ... The gene was first localised to chromosome 1 in 1968, and was the first blood system antigen to be localised. It is a single ... The mouse gene has two exons (100 and 1064 nucleotides in length respectively), separated by a 461 base pair intron. In the ... The ancestral form of extant DARC alleles in humans appears to be the FY*B allele. The gene appears to be under strong ...

*C12orf66

... variant 1 is 36 Mbp in length spanning the base pairs 64,186,312 - 64,222,296 on chromosome 12. There are 3 total ... The human C12orf66 protein is 446 amino acids in length with a molecular weight of 50kdal . C12orf66 contains the domain of ... C12orf66 is a protein that in humans is encoded by the C12orf66 gene. The C12orf66 protein is one of four proteins in the ... "C12orf66 chromosome 12 open reading frame 66 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-02-25 ...

*NDUFA4L2

The human NDUFA4L2 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... The NDUFA4L2 gene is located on the long q arm of chromosome 12 at position 13.3 and it spans 5,860 base pairs. NDUFA4L2 is a ... NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 is a protein that in humans is encoded by the NDUFA4L2 gene. The ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 ...

*C15orf52

Chromosome 15 open reading frame 52 is a protein which in humans is encoded by the C15orf52 gene. This protein has a function ... The linear mRNA is 5344 base pairs long. The mRNA contains a short 5' untranslated region of 15 base pairs and a long 3' ... C15orf52 is a gene located on the reverse strand of chromosome 15 in the species Homo sapiens at locus 15q15.1. The gene is ... "A human interactome in three quantitative dimensions organized by stoichiometries and abundances." Cell 163.3 (2015): 712-723. ...

*Mouse

The mouse has approximately 2.7 billion base pairs and 20 chromosomes. They can also be manipulated in ways that are illegal ... Humans have eaten mice since prehistoric times and still eat them as a delicacy throughout eastern Zambia and northern Malawi, ... Mice are generally very docile if raised from birth and given sufficient human contact. However, certain strains have been ... Mice are no longer routinely consumed by humans elsewhere. However in Victorian Britain, fried mice were still given to ...

*Matrilineality

Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... "Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ...

*BHLHE41

... was mapped to human chromosome 12: 26,120,026-26-125-127 reverse strand and has a total length of 5,101 base pairs. The ... BHLHE41-001 contains 5 coding exons, has a transcript length of 3,837 base pairs, and encodes the 482 amino acid BHLHE41 ... "Human PubMed Reference:". "Mouse PubMed Reference:". "BHLHE41 basic helix-loop-helix family, member e41 [ Homo sapiens (human ... Human BHLHE41 genome location and BHLHE41 gene details page in the UCSC Genome Browser. This article incorporates text from the ...

*Dopamine receptor D4

... in the human gene: A 48-base pair VNTR in exon 3 C-521T in the promoter 13-base pair deletion of bases 235 to 247 in exon 1 12 ... The human protein is coded by the DRD4 on chromosome 11 located in 11p15.5.[citation needed] There are slight variations ( ... The 48-base pair VNTR has been the subject of much speculation about its evolution and role in human behaviors cross-culturally ... "The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus". American Journal of Human Genetics ...

*Monosomy

Human conditions due to monosomy: Turner syndrome - People with Turner syndrome typically have one X chromosome instead of the ... Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair. Partial monosomy occurs when only a ... usual two sex chromosomes. Turner syndrome is the only full monosomy that is seen in humans-all other cases of full monosomy ... arm of chromosome 5 1p36 deletion syndrome - a partial monosomy caused by a deletion at the end of the short p arm of ...

*H2AFJ

Histone H2A.J is a protein that in humans is encoded by the H2AFJ gene. Histones are basic nuclear proteins that are ... This gene is located on chromosome 12 and encodes a variant H2A histone. The protein is divergent at the C-terminus compared to ... Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...

*Nocardia farcinica

Strains of this species have been isolated from human brain abscesses. N. farcinica contains a 6 million base pair genome with ... The chromosome encodes 5,674 potential protein-coding open reading frames. This genome may have undergone numerous gene ... Holm, P (July 1975). "Seven cases of human nocardiosis caused by Nocardia farcinica". Sabouraudia. 13 (2): 161-9. doi:10.1080/ ... Ishikawa, J; Yamashita, A; Mikami, Y; Hoshino, Y; Kurita, H; Hotta, K; Shiba, T; Hattori, M (Oct 12, 2004). "The complete ...

*Autophagy-related protein 101

... also known as ATG101 is a protein that in humans is encoded by the C12orf44 gene (chromosome 12 ... The transcribed mRNA sequence of C12orf44 is 1287 base pairs, and following translation the sequence is 218 amino acids in ... "Human PubMed Reference:". "Mouse PubMed Reference:". "Entrez Gene: chromosome 12 open reading frame 44". Mercer CA, Kaliappan A ... Located after C12orf44 on the chromosome, it lies on the same strand and is 946 bp in length. KRT80 (keratin 80) - This gene ...

*COX6A1

The COX6A1 gene, located on the q arm of chromosome 12 in position 24.2, contains 3 exons and is 2,653 base pairs in length. ... Wong-Riley M, Guo A, Bachman NJ, Lomax MI (Apr 2000). "Human COX6A1 gene: promoter analysis, cDNA isolation and expression in ... out A mutation leading to a 5 base pair deletion in the COX6A1 gene is associated with Charcot-Marie-Tooth disease (CMT). CMT ... Cytochrome c oxidase subunit 6A1, mitochondrial is an protein that in humans is encoded by the COX6A1 gene. Cytochrome c ...

*CCDC176

The mRNA is 3123 base pairs long and has 12 exons, the protein is 529 amino acids long and has a molecular weight of 61987 Da ... Basal body-orientation factor 1 (BBOF1) is a protein that in humans is encoded by the gene CCDC176, which is located on the ... plus strand of chromosome 14 at 14q24.3. CCDC176 is neighbored by ALDH6A1 and ENTPD5 at the same locus. ... The most prevalent and most likely interaction is with LIG4, a human gene that encodes the protein DNA Ligase IV. Two ...

*HOXD8

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
Web site dedicated to the Pallister-Killian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile per le famiglie con persone affette dalla sindrome di Pallister-Killian.
Dr. Fricke responded: PKS is from a genet-. ic accident that leads to the fetus having usually 2 extra copies of genes on the short arm of Chromosome 12 in some cells of the body & the normal 2 copies in other cells, called mosaicism. It can impact all organ systems & cause profound Intellectual Disability, atypical facial features & abnormal hair growth pattern. See www.rarechromo.org for the PKS support page of the organization Unique.
Существует мнение, что близнецы - это братья или сестры, как две капли похожие друг на друга, родившиеся в одно и то же время.
The ketone XIII, obtained by Friedel-Crafts reaction of toluene with homoveratroyl chloride, was converted by the Leuckart reaction to the formamido derivative IXb which was used as the starting product for the synthesis of amines IIIb-Vb. Reduction of the ketone XIII gave the alcohol XVI which was treated with hydrogen chloride and afforded the chloro compound XVII. Its substitution reactions with 1-methylpiperazine, 1-(2-hydroxyethyl)piperazine and 1-phenylpiperazine resulted in the piperazines VIb-VIIIb. Acylations of the amine IIIb with acetic anhydride and homoveratroyl chloride gave the amides Xb and XIb which, together with the formamide IXb, were subjected to the Bischler-Napieralski reaction. 3,4-Dihydroisoquinolines XXII-XXIV were obtained and reduced to the 1,2,3,4-tetrahydroisoquinolines XXVb-XXVIIb. Treatment of XXVIIb with formaldehyde afforded the berbine derivative XXVIII. Demethylation of the amine IIIb with hydrobromic acid resulted in the title compound IIIa. Similar ...
article{e4545f11-fcca-422e-8307-a31e151cdeb0, abstract = {To ascertain the epigenomic features, i.e., the methylation, non-coding RNA, and gene expression patterns, associated with gain of i(12p) in Pallister-Killian syndrome (PKS), we investigated single cell clones, harboring either disomy 12 or tetrasomy 12p, from a patient with PKS. The i(12p)-positive cells displayed a characteristic expression and methylation signature. Of all the genes on 12p, 13% were overexpressed, including the ATN1, COPS7A, and NECAP1 genes in 12p13.31, a region previously implicated in PKS. However, the median expression fold change (1.3) on 12p was lower than expected by tetrasomy 12p. Thus, partial dosage compensation occurs in cells with i(12p). The majority (89%) of the significantly deregulated genes were not situated on 12p, indicating that global perturbation of gene expression is a key pathogenetic event in PKS. Three genes-ATP6V1G1 in 9q32, GMPS in 3q25.31, and TBX5 in 12q24.21-exhibited concomitant ...
Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.. Most babies with Pallister-Killian mosaic syndrome are born with significant hypotonia, which can cause difficulty breathing and problems with feeding. Hypotonia also interferes with the normal development of motor skills such as sitting, standing, and walking. About 30 percent of affected individuals are ultimately able to walk without assistance. Additional developmental delays result from intellectual disability, which is usually severe to profound. Speech is often limited or absent in people with this condition.. Pallister-Killian mosaic syndrome is associated with a distinctive facial appearance that is often described as "coarse." Characteristic ...
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Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo−/hyper- pigmented streaks on the skin. Karyotypes obtained from cultured peripheral lymphocytes of 13 cases, who were diagnosed as PKS, were normal, while karyotypes obtained from cultured skin samples and buccal mucosa revealed the supernumerary mosaic i(12p). Mosaic karyotype was found in both fibroblast and buccal mucosa in 14 of 15 patients in our series,
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Darly Milena Giraldo Salazar Especialidad: Neurología Especialidad: Neurología Hospitales donde trabaja: Hospital El Pilar Especialidades que atiende: N...
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Stellas parents no longer see their daughter as a dying 2-year-old, but as a child who is navigating death. They are following her lead.
Naij.com News ★ Stella Oduahs son Etoromi died a few days in a hospital at Abuja after he was rushed in and he was said to have died of brain bleeding.
For the love of God Isaacson, grow the fuck up, man up, grow some balls, and have a damn mind of your own. Must u always be in agreement with Stellas opinion?! Jeez. And dont tell me to use my blog ID. I wont. Youve kissed my ass a few times too. It was highly irritating ...
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Strong evidence of linkage to late-onset Alzheimer disease (LOAD) has been observed on chromosome 10, which implicates a wide region and at least one disease-susceptibility locus. Although significant associations with several biological candidate genes on chromosome 10 have been reported, these findings have not been consistently replicated, and they remain controversial. We performed a chromosome 10-specific association study with 1,412 gene-based single-nucleotide polymorphisms (SNPs), to identify susceptibility genes for developing LOAD. The scan included SNPs in 677 of 1,270 known or predicted genes; each gene contained one or more markers, about half (48%) of which represented putative functional mutations. In general, the initial testing was performed in a white case-control sample from the St. Louis area, with 419 LOAD cases and 377 age-matched controls. Markers that showed significant association in the exploratory analysis were followed up in several other white case-control sample sets to
Daw EW, Payami H, Nemens EJ, Nochlin D, Bird TD, Schellenberg GD, Wijsman EM. The number of trait loci in late-onset Alzheimer disease ...
Stella Luk is the Country Director of Dimagi Software Innovations Pvt. Ltd., which handles programs small, large, and national-scale in India, Myanmar, and other parts of Asia. Stella has collaborated with health and development organizations across India and in various countries in West Africa to develop mobile job aids for facility- and community-based healthcare workers…
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Stella G. Ellin, who enjoyed creating gourmet dishes in her kitchen and recently completed a cookbook, died yesterday of cancer at her Worthington Valley home. She was 69.Her interest in food was
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Stella is a gorgeous kitty who belongs to my brother and sister-in-law. That is not her crate she is lounging in, it is Tobys crate. She is absolutely fearless when it comes to canines, and Toby was more afraid of her than she was of him. ...
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Im not sure if this is the correct topic for this. I have a pilar hair cyst that has re-grown in the same spot. I am wondering why it has grown back. Is this common. I have been reading up on this try...
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Stella Collins joins us for a discussion focusing on empathy in learning design, it includes topics like learner generated content and personalising learning.
I have collected Stella De Ora and dianthis seeds I want to know if I need to put them in the refrigerator for six weeks before trying to grow them.
She keeps vomiting. Chihuahua. Kind of foamy. Not sure. Her name is Stella. I'm not really sure how old she is. Can't - Answered by a verified Dog Veterinarian
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The TEL-AML1 fusion not only characterizes the most frequent genetic rearrangement in initial childhood ALL (20-25%) but its presence has also been associated with a favorable prognosis (9, 10, 11 , 28 , 32) . In clinical studies on initial ALL, probability of event-free survival (EFS) at 4 years was as high as 90-100% for TEL-AML1+ patients (9 , 10 , 32) . These results certainly do not represent final outcome considering that, regardless of the different prevalence of TEL-AML1 positivity at relapse of BCP-ALL (range, 3- 28%), TEL-AML1+ leukemia is biologically characterized by a long duration of first CR and that the majority of relapses (80%) occur off-therapy (median, 46 months; range, 13-125 months; Refs. 18, 19, 20, 21, 22, 23 , 33 ). The prevalence of TEL-AML1 positivity in our ongoing prospective study on first relapse of BCP-ALL is ∼17% (31 of 178 children; 33 ).. Obviously, the predictive value of TEL-AML1 positivity alone is insufficient to stratify patients to appropriate treatment ...
Vessel details: STELLA. Discover the vessels basic Details, including the vessel IMO / vessel MMSI and vessel Call Sign. Type: Ro-Ro/Passenger Ship Vessel, Registered in Finland. Find dead-weight-tonnage, Gross Tonnage and the Year of Build vessel details. Vessel details about STELLA include Current Vessel Position, Voyage information, and photos. STELLA Particulars IMO 9624691, MMSI 230634000, Call Sign OJPW
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After 14 years in soloist purgatory and two years of frustrating injuries, Stella Abrera became the first Filipina-American principal dancer in the history of American Ballet Theatre. And shes j
I always knew I wanted to breastfeed any children we were lucky to have. It was never a question of maybe, well try it and see if I like it I was pretty set. Just like some Moms know they definitely do not want to breastfeed, I was pretty determined to breastfeed. I even signed up for a class to learn about it which was comical in that the DH thought he didnt have to go to that class. Haha, no no honey, youre my support person in this, youre going to class. So we went, we even had plastic babies to practice proper positioning for breastfeeding. I wish I had pictures of all the guys in that class nursing their plastic babies, PRICELESS.. But like all learning, reading and studying about it is one thing, doing it is completely another thing. So Stella is born, and I had learned in class that babies "naturally" root and try to breastfeed. GREAT, she comes pre-programmed! This will be easy! Well Stella naturally rooted, but she naturally rooted on me, on DH, on inanimate objects, etc. But we ...
That last fact is true,it has happened to my bestie,I started stalking the dude on all the social media he visits and even saving his new girls pictures on her phone just so she can ask people if she is prettier than her. ...
I do my thing and you do yours. Im not on this earth to live up to your anticipations, and furthermore you are not in this world to live up to mine. You are you and Im I, and if by chance we find each other, its nice. In any other case, it cannot be helped.
Disability doesnt make you exceptional, but questioning what you think you know about it does."Stella Young 1982-2014 I dont know…. Read More→. ...
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The patient is a 51 year-old male with a history of right thigh myxoid/round cell liposarcoma. A large pleural/chest wall mass was identified on a routine chest radiograph three months after VATS for resection of a 2.2cm x 2.2cm x 1.5cm right upper lobe pulmonary nodule. The patient was asymptomatic.
Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, ODonovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J and Goate A. Celera Diagnostics, Alameda, CA, USA.. Strong evidence of linkage to late-onset Alzheimer disease (LOAD) has been observed on chromosome 10, which implicates a wide region and at least one disease-susceptibility locus. Although significant associations with several biological candidate genes on chromosome 10 have been reported, these findings have not been consistently replicated, and they remain controversial. We performed a chromosome 10-specific association study with 1,412 gene-based single-nucleotide polymorphisms (SNPs), to identify susceptibility genes for developing LOAD. The scan included SNPs in 677 of 1,270 known ...
Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present.
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Cecilie showed lots of video to demonstrate various chaining (retrieve, roll up in a blanket etc) and then in the lab we all did the chain she wanted first and then chose one of our own to create. The chain she chose was for the dogs to do a foot target and then sit. This would be how she would train a go-out for obedience. To begin we needed to train the dogs to go to a foot target and then return to us for reinforcement. Stella defaulted to grabbing the target and retrieving it to me so we tried a smaller target (flat coaster) and she still picked up that so we then switched to me holding the target in my hand and asking her for a paw and clicking when she hit the target. I gradually moved the target closer to the floor and before long she had the behaviour. Next step was to reinforce the sit which we did by resetting with a treat toss and asking for a sit. Sit is a very strong default behaviour for Stella so this was pretty easy for her. The final step is to do a few more foot targets with ...
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By Pilar Alcazar A Cell is like a Mall The cell membrane in a cell is like the theft control devices at the mall because the cell membrane prevents certain things from entering and exiting, while the theft control devices prevent certain items from leaving. The nucleus is like the mall management office because mall management controls the mall and stores files, while the nucleus controls the cell and stores plans for DNA. The cytoplasm is like the people in the mall because cytoplasm fills the cell like how people fill a mall. The ribosomes are like the ...
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We had a pt that came in for removal of 2 pilar cysts on the scalp. One was located on the mid-frontal scalp & the other on the right central parietal...
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I also wanted to add, for future reference, we never figured out what this was, even after a biopsy and two blood tests. The lab that read the first biopsy even told me they would read a second for free, after seeing how bad she had gotten, but luckily we never had to resort to that. And I want to mention that after she finally got better, she rocketed in a matter of a few weeks from her sick weight around 790 grams, up to 1068 grams now ...
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Longer leukocyte telomere length is associated with smaller hippocampal volume among non-demented APOE ε3/ε3 subjectsLonger leukocyte telomere length is associated with smaller hippocampal volume among non-demented APOE ε3/ε3 subjects

... in humans spanning over the last 2 to 15 kilobase pairs of the chromosome. Due to the end-replication problem, telomeres ... Telomeres are the outermost parts of linear chromosomes. They consist of tandemly repeated non-coding short nucleotide ... Available from: 2012-04-19 Created: 2012-04-19 Last updated: 2017-12-07Bibliographically approved In thesis. 1. Telomeres and ... Available from: 2011-12-23 Created: 2011-12-16 Last updated: 2012-07-09Bibliographically approved ...
more infohttp://umu.diva-portal.org/smash/record.jsf?pid=diva2:516681

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

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

Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic...Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic...

Evidence for linkage to NIDDM was found with polymorphic loci that map to the long arms of human chromosomes 20 and 12 in ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ...
more infohttp://diabetes.diabetesjournals.org/content/46/5/882

Where Are Chromosomes Found in a Cell? | Reference.comWhere Are Chromosomes Found in a Cell? | Reference.com

Although most chromosomes are found in the nucleus of a cell, some are also found in the cells mitochondria. These organelles ... A normal human cell has 23 pairs of chromosomes. Half of them were passed along by the mother and half by the father when the ... The number of chromosomes varies among types of organisms. For instance, a fruit fly has only four pairs of chromosomes while a ... A: The threadlike structures found in a nucleus are called chromosomes. Chromosomes are found in all of the bodys cells except ...
more infohttps://www.reference.com/science/chromosomes-found-cell-5d3c6699f9ee0019

topic:Chromosomes, Human, Pair 9 - genetics found 36 records • Arctic Healthtopic:"Chromosomes, Human, Pair 9 - genetics" found 36 records • Arctic Health

Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...
more infohttps://arctichealth.org/en/list?q=topic%3A%22Chromosomes%2C+Human%2C+Pair+9+-+genetics%22&p=1&ps=&sort=title_sort+asc

Cystic FibrosisCystic Fibrosis

Humans have 23 pairs of chromosomes made of the inherited genetic chemical deoxyribonucleic acid (DNA). The CF gene is found on ... Scientists dont know exactly why the CF gene evolved in humans, but they have some evidence to show that it helped to protect ... chromosome number 7. It takes two copies of a CF gene - one inherited from each parent - for a child to show symptoms of CF. ... Scientists estimate that about 12 million Americans are currently CF carriers. If two CF carriers have a child, there is a 1 in ...
more infohttp://kidshealth.org/en/parents/cf.html?view=ptr&WT.ac=p-ptr

Cystic Fibrosis (for Parents) - Vidant Medical CenterCystic Fibrosis (for Parents) - Vidant Medical Center

Humans have 23 pairs of chromosomes made of the inherited genetic chemical deoxyribonucleic acid (DNA). The CF gene is found on ... Scientists dont know exactly why the CF gene evolved in humans, but they have some evidence to show that it helped to protect ... chromosome number 7. It takes two copies of a CF gene - one inherited from each parent - for a child to show symptoms of CF. ... Scientists estimate that about 12 million Americans are currently CF carriers. If two CF carriers have a child, there is a 1 in ...
more infohttps://kidshealth.org/VidantMedicalCenter/en/parents/cf.html?WT.ac=p-ra

Fragile X Syndrome | Encyclopedia.comFragile X Syndrome | Encyclopedia.com

Humans have 46 chromosomes arranged into 23 pairs. Changes in either the total number of chromosomes or their shape and size ( ... Humans have 46 chromosomes arranged into 23 pairs. Chromosomes contain the genetic information necessary to direct the ... The first 22 pairs of chromosomes are the same in males and females. The remaining two chromosomes are called the sex ... The first 22 pairs of chromosomes are the same in males and females. The remaining two chromosomes are called the sex ...
more infohttps://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/fragile-x-syndrome

View source for Chromosome 17 - wikidocView source for Chromosome 17 - wikidoc

image2 = Human male karyotpe high resolution - Chromosome 17.png , caption2 = Chromosome 17 pair,br/> in human male [[karyogram ... Chromosome 17 (Human)}} [[Category:Chromosomes (human)]] [[Category:Genes on human chromosome 17,*]] Templates used on this ... Infobox chromosome , image = Human male karyotpe high resolution - Chromosome 17 cropped.png , caption = Human chromosome 17 ... Chromosome 17 is one of the 23 pairs of [[chromosome]]s in [[human]]s. People normally have two copies of this chromosome. ...
more infohttps://www.wikidoc.org/index.php?title=Chromosome_17&action=edit

View source for Chromosome 1 (human) - wikidocView source for Chromosome 1 (human) - wikidoc

Infobox chromosome , image = Human male karyotpe high resolution - Chromosome 1 cropped.png , caption = Human chromosome 1 pair ... Chromosome 01 (Human)}} [[Category:Chromosomes (human),Chromosome 01]] [[Category:Genes on human chromosome 1,*]] Templates ... image2 = Human male karyotpe high resolution - Chromosome 1.png , caption2 = Chromosome 1 pair ,br/>in human male [[karyogram ... Chromosome 1 is the designation for the largest [[human chromosome]]. Humans have two copies of chromosome 1, as they do ...
more infohttps://www.wikidoc.org/index.php?title=Chromosome_1_

Human DNA - WikiversityHuman DNA - Wikiversity

"The great apes have 24 pairs of chromosomes whereas humans have 23. This difference is caused by a fusion of two acrocentric ... XI and XII (sometimes called LI, LII and LIII) were discovered at Locus L in 1936. They are thought to belong to an adult man, ... They compared parts of the Neanderthal genome with pairs of modern humans. While the European and Asian pairs had similar ... "Genetic history of indigenous peoples of the Americas primarily focus on Human Y-chromosome DNA haplogroups and Human ...
more infohttps://en.wikiversity.org/wiki/Human_DNA

DNA = Chromosome - Page 5 - Biology-OnlineDNA = Chromosome - Page 5 - Biology-Online

Have a look at the Human Genome Poster. The whole discussion was whether the sex chromosomes form a pair! So far no one has ... a pair of chromatids equals a chromosome and not a pair equals a chromosomes. second mistake. 22 pairs of chromosomes are there ... The last 23d pair is made of sex chromosomes (X+Y or X+X depending on the individuals sex). 22 autosomal chromosome pairs, 1 ... A pair equals a chromosome. Each of these 22 pairs have a number from 1 to 22, add 2 sex chromosomes and the result is 24. ...
more infohttps://www.biology-online.org/biology-forum/viewtopic.php?t=7493&start=48

amniocentesis facts, information, pictures | Encyclopedia.com articles about amniocentesisamniocentesis facts, information, pictures | Encyclopedia.com articles about amniocentesis

Normal human cells contain 23 chromosome pairs-one in each pair inherited from the mother, and one from the father. Every human ... Humans have 46 chromosomes arranged into 23 pairs. Chromosomes contain the genetic information necessary to direct the ... Chromosome- Chromosomes are the strands of genetic material in a cell that occur in nearly identical pairs. ... Chromosome -A microscopic thread-like structure found within each cell of the human body and consisting of a complex of ...
more infohttp://encyclopedia.com/medicine/divisions-diagnostics-and-procedures/medicine/amniocentesis

Genomics in Action: Kyungjae Myung, Ph.D. - National Human Genome Research Institute (NHGRI)Genomics in Action: Kyungjae Myung, Ph.D. - National Human Genome Research Institute (NHGRI)

He hopes to use ELG1, which naturally marks damaged regions of DNA, to zoom in on the sites on each human chromosome that are ... often affecting just one or two of the approximately three billion base pairs in the human genome. At NHGRI, Dr. Myung focuses ... But in one of the cells is a glowing green chunk- part of a chromosome. "That could be a broken piece of chromosome, a type of ... Exploring genomes - frequently human, but often mouse and yeast genomes as well - fills his day as a National Human Genome ...
more infohttps://www.genome.gov/12010878/genomics-in-action-kyungjae-myung-phd/

X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells | PNASX-chromosome inactivation and epigenetic fluidity in human embryonic stem cells | PNAS

We first examined XIST expression by quantitative RT-PCR using primer pairs that detect XIST-specific splice patterns. HUES1, ... 2002) An ectopic human XIST gene can induce chromosome inactivation in postdifferentiation human HT-1080 cells. Proc Natl Acad ... X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells. Susana S. Silva, Rebecca K. Rowntree, Shila ... X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells. Susana S. Silva, Rebecca K. Rowntree, Shila ...
more infohttps://www.pnas.org/content/105/12/4820?ijkey=f72956a71f0446ea6ce18de7ce43d9249fb199ae&keytype2=tf_ipsecsha

Chromosomes Fact Sheet - National Human Genome Research Institute (NHGRI)Chromosomes Fact Sheet - National Human Genome Research Institute (NHGRI)

Fact sheet that explains what a chromosome is and what it does; centromeres and telomeres; the number of chromosomes humans ... How many chromosomes do humans have?. Humans have 23 pairs of chromosomes, for a total of 46 chromosomes. ... Yes, they differ in a pair of chromosomes known as the sex chromosomes. Females have two X chromosomes in their cells, while ... The only human cells that do not contain pairs of chromosomes are reproductive cells, or gametes, which carry just one copy of ...
more infohttps://www.genome.gov/26524120/

HCC38  ATCC ® CRL-2314™ Homo sapiens mammary gland; breast/dHCC38 ATCC ® CRL-2314™ Homo sapiens mammary gland; breast/d

Every chromosome pair had a least one rearrangement. No normal X chromosomes were observed and Y chromosomes were absent by QM ... This is a hyper-triploid human cell line with a modal chromosome number of 75. Homogeneously staining regions and dicentric ... No normal X chromosomes were observed and Y chromosomes were absent by QM staining. Normal copies of chromosomes 2,6,11,13,16 ... a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). ...
more infohttps://www.atcc.org/en/Products/Cells_and_Microorganisms/By_Disease__Model/Paired_set_normal_and_diseased_tissue/CRL-2314.aspx?p=1&rel=%7B0%7D

Meiosis is not Mitosis - Veterans Today | News - Military Foreign Affairs PolicyMeiosis is not Mitosis - Veterans Today | News - Military Foreign Affairs Policy

In the human body nearly two trillion cells divide each day. There are 23 pairs of chromosomes per cell or 46 chromosomes. ... Thus, this information flow controls both the spacing and the number of DNA exchanges between paired chromosomes. ... This work on the dynamics of chromosome-chromosome interactions is a great example of the value of basic research. Errors in ... the two paired partner chromosomes perfectly aligned. This is not just the familiar DNA double helix. This is a double helix ...
more infohttps://www.veteranstoday.com/2018/12/06/meiosis-is-not-mitosis/

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

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

CD99 - WikipediaCD99 - Wikipedia

"Homologous expressed genes in the human sex chromosome pairing region". Nature. 317 (6039): 739-41. doi:10.1038/317739a0. PMID ... CD99 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) Human CD99 genome location and CD99 ... a gene shared by the human X and Y chromosomes". Cold Spring Harb. Symp. Quant. Biol. 51 (1): 205-12. doi:10.1101/SQB.1986.051. ... Unusually for a gene present on the X chromosome, the CD99 gene does not undergo X inactivation, and it was the first such ...
more infohttps://en.wikipedia.org/wiki/CD99

IJMS  | Free Full-Text | Hyaluronan and Fibrin Biomaterial as Scaffolds for Neuronal Differentiation of Adult Stem Cells...IJMS | Free Full-Text | Hyaluronan and Fibrin Biomaterial as Scaffolds for Neuronal Differentiation of Adult Stem Cells...

The normal human karyotype contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes. Normal karyotypes for ... The chromosomes are depicted (by rearranging a microphotograph) in a standard format known as a karyogram: in pairs, ordered by ... Chromosome Stability. Chromosome stability of cell cultures has been detected by means of the karyotipe analyses. The karyotype ... Characterization of human adult stem-cell populations isolated from visceral and subcutaneous adipose tissue. FASEB J 2009, 23 ...
more infohttp://www.mdpi.com/1422-0067/12/10/6749/htm

Molecular Characterization of Hiwi, a Human Member of the Piwi Gene Family Whose Overexpression Is Correlated to Seminomas -...Molecular Characterization of Hiwi, a Human Member of the Piwi Gene Family Whose Overexpression Is Correlated to Seminomas -...

Here we report the molecular characterization of hiwi, a human … ... Chromosomes, Human, Pair 12 / genetics Actions. * Search in PubMed * Search in MeSH ... Chromosomes and Expression in Human Testicular Germ-Cell Tumors: Insight Into Their Cell of Origin and Pathogenesis LH ... Estrogen Receptor-Beta Expression in Human Testicular Germ Cell Tumors V Pais et al. Clin Cancer Res 9 (12), 4475-82. 2003. ...
more infohttps://pubmed.ncbi.nlm.nih.gov/12037681/

What is Polyploidy? (with pictures)What is Polyploidy? (with pictures)

Polyploidy is a condition in which an organism has more than two sets of chromosomes. It is found naturally in several types of ... A single set of chromosomes is known as a haploid set, while a pair is known as diploid. Many organisms, including humans, are ... Coffee plants, for example, tend to have chromosomes in multiples of 11, with 22, 44, and 66 chromosomes documented in various ... there is an extra copy of an entire set of chromosomes. In humans, being polyploid is usually incompatible with life; a ...
more infohttp://www.wisegeek.com/what-is-polyploidy.htm

Chromosomes dance and pair up on the nuclear membrane - Healthcanal.com : Healthcanal.comChromosomes dance and pair up on the nuclear membrane - Healthcanal.com : Healthcanal.com

In humans, that means 46 chromosomes pair off into 23, but in the nematode, 12 chromosomes pair off into 6. ... This involves the pairing, or synapsis, of homologous chromosomes in which the chromosome from the mother pairs with the ... the pairing of homologous chromosomes. In early meiosis, the chromosomes attach by their pairing centers to proteins on the ... until each chromosome encounters its homolog. Once a chromosome finds its mate and pairs up, the paired homologs remain ...
more infohttps://www.healthcanal.com/medical-breakthroughs/3967-chromosomes-dance-and-pair-up-on-the-nuclear-membrane.html
  • For example, their tendency to gain chromosomes 12, 17, and X likens hESC to various germ cell tumors ( 3 , 4 ). (pnas.org)
  • Exploring genomes - frequently human, but often mouse and yeast genomes as well - fills his day as a National Human Genome Research Institute (NHGRI) investigator in the Genetics and Molecular Biology Branch and head of the Genome Instability Section. (genome.gov)
  • In fact, the cytoskeleton appears to encourage the dance of the chromosomes around the nuclear membrane as they search for their partners, and help make sure they have the right partner before meiosis continues. (healthcanal.com)
  • Errors during meiosis lead to age-related human infertility, and to birth defects such as Down syndrome and Klinefelter syndrome," said Abby Dernburg, UC Berkeley associate professor of molecular and cell biology and a Howard Hughes Medical Institute investigator. (healthcanal.com)
  • Hence since this DNA string shows 12 repeats of TAGA, the allele value (that would be recorded for the specific marker or location where this DNA string came from would be 12. (bellaonline.com)
  • Nonparametric analysis of chromosome 12 inheritance data collected with the MODY3-linked markers D12S349 and D12S86 provides evidence for linkage to NIDDM with P values of 0.04 and 0.006, respectively, in Caucasian sib pairs using similar analyses. (diabetesjournals.org)
  • No evidence for linkage of MODY1 and MODY3 markers to NIDDM in African-American sib pairs was observed. (diabetesjournals.org)
  • At least 45 distinct derivative chromosomes were detected in most metaphases, including two large metacentric markers which are approximately 1.5 times longer than a normal A group chromosome. (atcc.org)
  • When these differences are counted, there is an additional 4 to 5% distinction between the human and chimpanzee genomes. (wikiversity.org)
  • Scientists estimate that about 12 million Americans are currently CF carriers. (kidshealth.org)
  • Scientists don't know exactly why the CF gene evolved in humans, but they have some evidence to show that it helped to protect earlier generations from the bacteria that cause cholera, a severe intestinal infection. (kidshealth.org)
  • Gene sequencing allows scientists to map a chromosome. (slideshare.net)
  • A maximum LOD score of 1.48 was calculated for linkage to MODYl-linked loci and 1.45 to MODY3-linked loci in Caucasian sib pairs. (diabetesjournals.org)
  • Linkage analysis of 25 extended families, in each of which at least one affected individual had panic disorder (PD), resulted in a LOD score of 4.18 at D9S271, on chromosome 9q31. (arctichealth.org)
  • A gene is a specific section of the long double-stranded helix of human DNA that provides the instructions for a specific function. (bellaonline.com)
  • Ultraviolet radiation inflicts fairly minor changes to DNA, often affecting just one or two of the approximately three billion base pairs in the human genome. (genome.gov)
  • When a man carries a premutation on his X chromosome, it tends to be stable and usually will not expand if he passes it on to his daughters (he passes his Y chromosome to his sons). (encyclopedia.com)
  • Because the Y-chromosome is handed down from father to sons, it can be used in tracing the exclusively male line of a family. (bellaonline.com)
  • It sits on top of a sacrum, which is a collection of fused bones and these can vary in number in individual humans. (biology-online.org)
  • The four nucleotides present in DNA are adenine (A), guanine (G), cytosine (C), and thymine (T). G always pairs with C and A always pairs with T. It is the sequence of these pairs that provides the basis for counting repeating patterns. (bellaonline.com)