Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Genomic Instability: An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.Joint Instability: Lack of stability of a joint or joint prosthesis. Factors involved are intra-articular disease and integrity of extra-articular structures such as joint capsule, ligaments, and muscles.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).Microsatellite Instability: The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.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).DNA Repair: The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.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.DNA Damage: Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.Centrosome: The cell center, consisting of a pair of CENTRIOLES surrounded by a cloud of amorphous material called the pericentriolar region. During interphase, the centrosome nucleates microtubule outgrowth. The centrosome duplicates and, during mitosis, separates to form the two poles of the mitotic spindle (MITOTIC SPINDLE APPARATUS).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.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.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.Karyotyping: Mapping of the KARYOTYPE of a cell.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.DNA, Neoplasm: DNA present in neoplastic tissue.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Cell Transformation, Neoplastic: Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.Ploidies: The degree of replication of the chromosome set in the karyotype.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.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.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.RecQ Helicases: A family of structurally-related DNA helicases that play an essential role in the maintenance of genome integrity. RecQ helicases were originally discovered in E COLI and are highly conserved across both prokaryotic and eukaryotic organisms. Genetic mutations that result in loss of RecQ helicase activity gives rise to disorders that are associated with CANCER predisposition and premature aging.Colorectal Neoplasms: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.Tumor Suppressor Protein p53: Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.Micronuclei, Chromosome-Defective: Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes.Bloom Syndrome: An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.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.Neoplasms: New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.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.MutS Homolog 2 Protein: MutS homolog 2 protein is found throughout eukaryotes and is a homolog of the MUTS DNA MISMATCH-BINDING PROTEIN. It plays an essential role in meiotic RECOMBINATION and DNA REPAIR of mismatched NUCLEOTIDES.DNA Sequence, Unstable: A region of DNA that is highly polymorphic and is prone to strand breaks, rearrangements or other MUTATIONS because of the nature of its sequence. These regions often harbor palindromic, or repetitive sequences (REPETITIVE SEQUENCES, NUCLEIC ACID). Variability in stability of the DNA sequence is seen at CHROMOSOME FRAGILE SITES.Fanconi Anemia: Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)Aurora Kinases: A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.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)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.Protein-Serine-Threonine Kinases: A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.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.)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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.DNA Breaks, Double-Stranded: Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.Nijmegen Breakage Syndrome: A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.DNA Replication: The process by which a DNA molecule is duplicated.Trinucleotide Repeats: Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.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.Telomerase: An essential ribonucleoprotein reverse transcriptase that adds telomeric DNA to the ends of eukaryotic CHROMOSOMES.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.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.Hypoxanthine Phosphoribosyltransferase: An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or 6-mercaptopurine to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8.Aurora Kinase A: An aurora kinase that localizes to the CENTROSOME during MITOSIS and is involved in centrosome regulation and formation of the MITOTIC SPINDLE. Aurora A overexpression in many malignant tumor types suggests that it may be directly involved in NEOPLASTIC CELL TRANSFORMATION.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.Genes, p53: Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.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)Base Pair Mismatch: The presence of an uncomplimentary base in double-stranded DNA caused by spontaneous deamination of cytosine or adenine, mismatching during homologous recombination, or errors in DNA replication. Multiple, sequential base pair mismatches lead to formation of heteroduplex DNA; (NUCLEIC ACID HETERODUPLEXES).Micronucleus Tests: Induction and quantitative measurement of chromosomal damage leading to the formation of micronuclei (MICRONUCLEI, CHROMOSOME-DEFECTIVE) in cells which have been exposed to genotoxic agents or IONIZING RADIATION.DNA Helicases: Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. In addition DNA helicases are DNA-dependent ATPases that harness the free energy of ATP hydrolysis to translocate DNA strands.DNA Methylation: Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.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.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Werner Syndrome: An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.Cell Cycle: The complex series of phenomena, occurring between the end of one CELL DIVISION and the end of the next, by which cellular material is duplicated and then divided between two daughter cells. The cell cycle includes INTERPHASE, which includes G0 PHASE; G1 PHASE; S PHASE; and G2 PHASE, and CELL DIVISION PHASE.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.Rad51 Recombinase: A Rec A recombinase found in eukaryotes. Rad51 is involved in DNA REPAIR of double-strand breaks.Cell Line, Tumor: A cell line derived from cultured tumor cells.Ataxia Telangiectasia Mutated Proteins: A group of PROTEIN-SERINE-THREONINE KINASES which activate critical signaling cascades in double strand breaks, APOPTOSIS, and GENOTOXIC STRESS such as ionizing ultraviolet A light, thereby acting as a DNA damage sensor. These proteins play a role in a wide range of signaling mechanisms in cell cycle control.Allelic Imbalance: A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified.DNA Repair Enzymes: Enzymes that are involved in the reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule, which contained damaged regions.Cell Line: Established cell cultures that have the potential to propagate indefinitely.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).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.Neoplasm Proteins: Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.Mad2 Proteins: Mad2 is a component of the spindle-assembly checkpoint apparatus. It binds to and inhibits the Cdc20 activator subunit of the anaphase-promoting complex, preventing the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Mad2 is required for proper microtubule capture at KINETOCHORES.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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Ataxia Telangiectasia: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).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.Adaptor Proteins, Signal Transducing: A broad category of carrier proteins that play a role in SIGNAL TRANSDUCTION. They generally contain several modular domains, each of which having its own binding activity, and act by forming complexes with other intracellular-signaling molecules. Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymesX-Rays: Penetrating electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard X-rays are the higher energy, shorter wavelength X-rays. Soft x-rays or Grenz rays are less energetic and longer in wavelength. The short wavelength end of the X-ray spectrum overlaps the GAMMA RAYS wavelength range. The distinction between gamma rays and X-rays is based on their radiation source.Gamma Rays: Penetrating, high-energy electromagnetic radiation emitted from atomic nuclei during NUCLEAR DECAY. The range of wavelengths of emitted radiation is between 0.1 - 100 pm which overlaps the shorter, more energetic hard X-RAYS wavelengths. The distinction between gamma rays and X-rays is based on their radiation source.Tumor Cells, Cultured: Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.Colonic Neoplasms: Tumors or cancer of the COLON.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.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.Telomere Shortening: The loss of some TELOMERE sequence during DNA REPLICATION of the first several base pairs of a linear DNA molecule; or from DNA DAMAGE. Cells have various mechanisms to restore length (TELOMERE HOMEOSTASIS.) Telomere shortening is involved in the progression of CELL AGING.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.Spectral Karyotyping: The simultaneous identification of all chromosomes from a cell by fluorescence in situ hybridization (IN SITU HYBRIDIZATION, FLUORESCENCE) with chromosome-specific florescent probes that are discerned by their different emission spectra.Chromosome Deletion: Actual loss of portion of a chromosome.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.Fanconi Anemia Complementation Group Proteins: A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.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.Fanconi Anemia Complementation Group G Protein: A Fanconi anemia complementation group protein that undergoes PHOSPHORYLATION by CDC2 PROTEIN KINASE during MITOSIS. It forms a complex with other FANCONI ANEMIA PROTEINS and helps protect CELLS from DNA DAMAGE by genotoxic agents.Precancerous Conditions: Pathological processes that tend eventually to become malignant. (From Dorland, 27th ed)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)Radiation, Ionizing: ELECTROMAGNETIC RADIATION or particle radiation (high energy ELEMENTARY PARTICLES) capable of directly or indirectly producing IONS in its passage through matter. The wavelengths of ionizing electromagnetic radiation are equal to or smaller than those of short (far) ultraviolet radiation and include gamma and X-rays.Gene Expression Regulation, Neoplastic: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.Tumor Suppressor Proteins: Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.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.Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.Adenocarcinoma: A malignant epithelial tumor with a glandular organization.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).Lymphocytes: White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.Genes, Tumor Suppressor: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.Breast Neoplasms: Tumors or cancer of the human BREAST.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Cell Line, Transformed: Eukaryotic cell line obtained in a quiescent or stationary phase which undergoes conversion to a state of unregulated growth in culture, resembling an in vitro tumor. It occurs spontaneously or through interaction with viruses, oncogenes, radiation, or drugs/chemicals.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Cell Division: The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.Genes, ras: Family of retrovirus-associated DNA sequences (ras) originally isolated from Harvey (H-ras, Ha-ras, rasH) and Kirsten (K-ras, Ki-ras, rasK) murine sarcoma viruses. Ras genes are widely conserved among animal species and sequences corresponding to both H-ras and K-ras genes have been detected in human, avian, murine, and non-vertebrate genomes. The closely related N-ras gene has been detected in human neuroblastoma and sarcoma cell lines. All genes of the family have a similar exon-intron structure and each encodes a p21 protein.DNA Repeat Expansion: An increase number of repeats of a genomic, tandemly repeated DNA sequence from one generation to the next.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.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.Comparative Genomic Hybridization: A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.Exodeoxyribonucleases: A family of enzymes that catalyze the exonucleolytic cleavage of DNA. It includes members of the class EC 3.1.11 that produce 5'-phosphomonoesters as cleavage products.Cricetinae: A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.Saccharomyces cerevisiae Proteins: Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.Adenoma: A benign epithelial tumor with a glandular organization.Comet Assay: A genotoxicological technique for measuring DNA damage in an individual cell using single-cell gel electrophoresis. Cell DNA fragments assume a "comet with tail" formation on electrophoresis and are detected with an image analysis system. Alkaline assay conditions facilitate sensitive detection of single-strand damage.Apoptosis: One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.Proto-Oncogene Proteins: Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.M Phase Cell Cycle Checkpoints: The cellular signaling system that halts the progression of cells through MITOSIS or MEIOSIS if a defect that will affect CHROMOSOME SEGREGATION is detected.G2 Phase: The period of the CELL CYCLE following DNA synthesis (S PHASE) and preceding M PHASE (cell division phase). The CHROMOSOMES are tetraploid in this point.Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)Prognosis: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.Myotonic Dystrophy: Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.Anaphase: The phase of cell nucleus division following METAPHASE, in which the CHROMATIDS separate and migrate to opposite poles of the spindle.Mitomycin: An antineoplastic antibiotic produced by Streptomyces caespitosus. It is one of the bi- or tri-functional ALKYLATING AGENTS causing cross-linking of DNA and inhibition of DNA synthesis.Ligaments, Articular: Fibrous cords of CONNECTIVE TISSUE that attach bones to each other and hold together the many types of joints in the body. Articular ligaments are strong, elastic, and allow movement in only specific directions, depending on the individual joint.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.Fanconi Anemia Complementation Group C Protein: A Fanconi anemia complementation group protein that regulates the activities of CYTOCHROME P450 REDUCTASE and GLUTATHIONE S-TRANSFERASE. It is found predominately in the CYTOPLASM, but moves to the CELL NUCLEUS in response to FANCE PROTEIN.Fanconi Anemia Complementation Group A Protein: A Fanconi anemia complementation group protein that is the most commonly mutated protein in FANCONI ANEMIA. It undergoes PHOSPHORYLATION by PROTEIN KINASE B and forms a complex with FANCC PROTEIN in the CELL NUCLEUS.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Cytokinesis: The process by which the CYTOPLASM of a cell is divided.Ankle Injuries: Harm or hurt to the ankle or ankle joint usually inflicted by an external source.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Mutagens: Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Shoulder Dislocation: Displacement of the HUMERUS from the SCAPULA.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.HeLa Cells: The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.DNA Mismatch Repair: A DNA repair pathway involved in correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. Excinucleases recognize the BASE PAIR MISMATCH and cause a segment of polynucleotide chain to be excised from the daughter strand, thereby removing the mismatched base. (from Oxford Dictionary of Biochemistry and Molecular Biology, 2001)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.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)Streptomyces: A genus of bacteria that form a nonfragmented aerial mycelium. Many species have been identified with some being pathogenic. This genus is responsible for producing a majority of the ANTI-BACTERIAL AGENTS of practical value.Flow Cytometry: Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.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.Gene Silencing: Interruption or suppression of the expression of a gene at transcriptional or translational levels.F-Box Proteins: A family of proteins that share the F-BOX MOTIF and are involved in protein-protein interactions. They play an important role in process of protein ubiquition by associating with a variety of substrates and then associating into SCF UBIQUITIN LIGASE complexes. They are held in the ubiquitin-ligase complex via binding to SKP DOMAIN PROTEINS.Cell Survival: The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability.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 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.S Phase: Phase of the CELL CYCLE following G1 and preceding G2 when the entire DNA content of the nucleus is replicated. It is achieved by bidirectional replication at multiple sites along each chromosome.Blotting, Western: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.Bystander Effect: The result of a positive or negative response (to drugs, for example) in one cell being passed onto other cells via the GAP JUNCTIONS or the intracellular milieu.Dose-Response Relationship, Radiation: The relationship between the dose of administered radiation and the response of the organism or tissue to the radiation.Nocodazole: Nocodazole is an antineoplastic agent which exerts its effect by depolymerizing microtubules.Fanconi Anemia Complementation Group F Protein: A Fanconi anemia complementation group protein. It is an essential component of a nuclear core complex that protects the GENOME against CHROMOSOMAL INSTABILITY. It interacts directly with FANCG PROTEIN and helps stabilize a complex with FANCA PROTEIN and FANCC PROTEIN.Radiation Tolerance: The ability of some cells or tissues to survive lethal doses of IONIZING RADIATION. Tolerance depends on the species, cell type, and physical and chemical variables, including RADIATION-PROTECTIVE AGENTS and RADIATION-SENSITIZING AGENTS.Carcinoma, Squamous Cell: A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)Tetraploidy: The presence of four sets of chromosomes. It is associated with ABNORMALITIES, MULTIPLE; and MISCARRAGES.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Colorectal Neoplasms, Hereditary Nonpolyposis: A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.BRCA2 Protein: A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)Cell Aging: The decrease in the cell's ability to proliferate with the passing of time. Each cell is programmed for a certain number of cell divisions and at the end of that time proliferation halts. The cell enters a quiescent state after which it experiences CELL DEATH via the process of APOPTOSIS.Shoulder Joint: The articulation between the head of the HUMERUS and the glenoid cavity of the SCAPULA.Cell Proliferation: All of the processes involved in increasing CELL NUMBER including CELL DIVISION.Genes, cdc: Genes that code for proteins that regulate the CELL DIVISION CYCLE. These genes form a regulatory network that culminates in the onset of MITOSIS by activating the p34cdc2 protein (PROTEIN P34CDC2).Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Ankle Joint: The joint that is formed by the inferior articular and malleolar articular surfaces of the TIBIA; the malleolar articular surface of the FIBULA; and the medial malleolar, lateral malleolar, and superior surfaces of the TALUS.Proto-Oncogene Proteins c-myc: Cellular DNA-binding proteins encoded by the c-myc genes. They are normally involved in nucleic acid metabolism and in mediating the cellular response to growth factors. Elevated and deregulated (constitutive) expression of c-myc proteins can cause tumorigenesis.Gonadal Disorders: Pathological processes of the OVARIES or the TESTES.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.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.CpG Islands: Areas of increased density of the dinucleotide sequence cytosine--phosphate diester--guanine. They form stretches of DNA several hundred to several thousand base pairs long. In humans there are about 45,000 CpG islands, mostly found at the 5' ends of genes. They are unmethylated except for those on the inactive X chromosome and some associated with imprinted genes.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.Oncogenes: Genes whose gain-of-function alterations lead to NEOPLASTIC CELL TRANSFORMATION. They include, for example, genes for activators or stimulators of CELL PROLIFERATION such as growth factors, growth factor receptors, protein kinases, signal transducers, nuclear phosphoproteins, and transcription factors. A prefix of "v-" before oncogene symbols indicates oncogenes captured and transmitted by RETROVIRUSES; the prefix "c-" before the gene symbol of an oncogene indicates it is the cellular homolog (PROTO-ONCOGENES) of a v-oncogene.BRCA1 Protein: The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Antigens, Nuclear: Immunologically detectable substances found in the CELL NUCLEUS.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Carcinogens: Substances that increase the risk of NEOPLASMS in humans or animals. Both genotoxic chemicals, which affect DNA directly, and nongenotoxic chemicals, which induce neoplasms by other mechanism, are included.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.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.DNA Polymerase beta: A DNA repair enzyme that catalyzes DNA synthesis during base excision DNA repair. EC 2.7.7.7.Transfection: The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.Fanconi Anemia Complementation Group D2 Protein: A Fanconi anemia complementation group protein that undergoes mono-ubiquitination by FANCL PROTEIN in response to DNA DAMAGE. Also, in response to IONIZING RADIATION it can undergo PHOSPHORYLATION by ataxia telangiectasia mutated protein. Modified FANCD2 interacts with BRCA2 PROTEIN in a stable complex with CHROMATIN, and it is involved in DNA REPAIR by homologous RECOMBINATION.Gonadal Dysgenesis, 46,XX: The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and breakage. They often ... This can happen with or without loss of genetic material.. *Isochromosome: Formed by the mirror image copy of a chromosome ... A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal ... Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene ...
Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and breakage. They often ... This can happen with or without loss of genetic material. Isochromosome: Formed by the mirror image copy of a chromosome ... Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene ... Governini L, Guerranti C, De Leo V, Boschi L, Luddi A, Gori M, Orvieto R, Piomboni P (2014). "Chromosomal aneuploidies and DNA ...
Genomic instability is a common feature of cancer; therefore understanding structural and chromosomal abnormalities can give ... Each bacterium now contains one unique cDNA and is replicated to produce clones with the same genetic information. This is ... SNPs are valuable in cancer research as they can be used in several different genetic studies, commonly to track transmission, ... CGAP is now a centralised location for several genomics tools and genetic databases and is employed widely in cancer and ...
Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability ... 1995). "Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue". Genomics. 26 (3): ... 2005). "RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination". J. Biol. Chem. 280 ( ...
The genetic mutations seen in serous carcinoma are chromosomal instability and mutations in TP53, an important tumor suppressor ... The inherited genetic condition Cowden syndrome can also cause endometrial cancer. Women with this disorder have a 5-10% ... The genetic mutations most commonly associated with endometrioid adenocarcinoma are in the genes PTEN, a tumor suppressor; ... The common genetic causes remain uncharacterized. Primary transitional cell carcinomas of the endometrium are even more rare; ...
Chromosomal instability resulting from dysfunctional caretaker genes is the most common form of genetic instability that leads ... mutational instability arising from changes in the nucleotide sequence of DNA and chromosomal instability arising from improper ... Michor, F; Iwasa, Y; Komarova, N. L.; Nowak, M. A. (2003). "Local regulation of homeostasis favors chromosomal instability". ... In genetic knock-out and rescue experiments, restoration of a caretaker gene from the mutated form to the wildtype version does ...
Chromosomal aberrations are disruptions in the normal chromosomal content of a cell and are a major cause of genetic conditions ... If these structures are manipulated incorrectly, through processes known as chromosomal instability and translocation, the cell ... Chromosomal recombination during meiosis and subsequent sexual reproduction play a significant role in genetic diversity. ... Aneuploidy Chromosome segregation DNA Genetic deletion For information about chromosomes in genetic algorithms, see chromosome ...
BRCA2 has also provided a conceptual framework for understanding other human genetic diseases in which chromosomal instability ... Venkitaraman is widely recognised for his research into chromosomal instability and cancer, particularly with relation to the ... Combining structural, biophysical, biochemical, genetic and molecular biologic approaches, Venkitaraman's work helps to explain ... how BRCA2 monitors the duplication, repair and segregation of genetic information encoded in chromosomes. These insights have ...
Chromosomal rearrangement due to genome instability can cause gene amplification and deletion. Gene amplification is the ... Since cancer is a genetic disease, two genomic events underlie acquired drug resistance: Genome alterations (e.g. gene ... Genomic instability can occur when the replication fork is disturbed or stalled in its migration. This can occur with ... This genomic instability means the cancer cell is actually more sensitive to DNA-damaging chemotherapy drugs. MDR proteins are ...
See genome instability) Recent discoveries have highlighted the role of local chronic inflammation in inducing many types of ... See cancer immunology) Cancer cells generally have severe chromosomal abnormalities which worsen as the disease progresses. ... Small genetic mutations are most likely what begin tumorigenesis, but once cells begin the breakage-fusion-bridge (BFB) cycle, ... genome instability, and (4) inflammation. Cancer cells have defects in the control mechanisms that govern how often they divide ...
System instability is a major contributing factor for genetic heterogeneity.[42] For the majority of cancers, genome ... and molecular genetic studies demonstrated that tumorigenesis was associated with chromosomal mechanisms, such as mitotic ... Nowell synthesized the evolutionary view of cancer in 1976 as a process of genetic instability and natural selection.[1] Most ... Genetic instability is defined as an "enabling characteristic" that facilitates the acquisition of other mutations due to ...
Nijmegen breakage syndrome (NBS) is a rare genetic disorder that has similar chromosomal instability to that seen in people ... and low number of lymphocytes in the blood Chromosomal instability (broken pieces of chromosomes) Increased sensitivity of ... Genetic counseling can help family members of an A-T patient understand what can or cannot be tested, and how the test results ... Genetic testing of the aprataxin gene can confirm the diagnosis. There is no enhanced risk for cancer. Ataxia oculomotor ...
Loss-of-function mutations or absence of Bub1 has been reported to result in aneuploidy, chromosomal instability (CIN) and ... Bub1 is a serine/threonine protein kinase first identified in genetic screens of Saccharomyces cerevisiae. The protein is bound ... More precisely, mutations in the spindle checkpoint can lead to chromosomal instability and aneuploidy, a feature present in ... Similarly to its role in kinetochore assembly, it recruits members of the chromosomal passenger complex (CPC) like Aurora B ...
... or due to large scale chromosomal reorganizations. Losing genetic stability will favour tumor development, because it favours ... Genome instability (also genetic instability or genomic instability) refers to a high frequency of mutations within the genome ... also genetic instability, or even chromosomic instability). The process of genome instability often leads to a situation of ... Genome instability can refer to the accumulation of extra copies of DNA or chromosomes, chromosomal translocations, chromosomal ...
This shows that chromosomal instability can be responsible for the development of solid cancers. However, genetic alterations ... which may result in chromosomal instability. Chromosomal instability can in turn cause cancer. However, chromosomal instability ... Chromosomal instability (CIN) is a type of genomic instability in which chromosomes are unstable, such that either whole ... A chromosomal instability assay should measure not only whole chromosome change rates, but also the partial chromosomal changes ...
... and displayed chromosomal instability in a micronucleus test. In addition to MCPH1 the other five family members are: MCPH2, ... Later genetic association studies by Mekel-Bobrov et al. and Evans et al. also reported that the genotype for MCPH1 was under ... Genetic determinism Race and genetics Race and intelligence Bruce Lahn PDB: 3KTF​; Singh N, Heroux A, Thompson JR, Mer G (2010 ... and common genetic variants within both the MCPH1 gene and another similarly studied microcephaly gene, CDK5RAP2. Microcephalin ...
In addition, genetic syndromes in which an individual is predisposed to breakage of chromosomes (chromosome instability ... such as chromosomal instability (due to mitotic segregation defects in cancer cells). Therefore, the molecular processes that ... In general, individuals who are mosaic for a chromosomal aneuploidy tend to have a less severe form of the syndrome compared to ... Governini L, Guerranti C, De Leo V, Boschi L, Luddi A, Gori M, Orvieto R, Piomboni P (2014). "Chromosomal aneuploidies and DNA ...
Such alterations are thought to occur early in progression to cancer and to be a likely cause of the genetic instability ... Whenever a cell needs to express the genetic information encoded in its nDNA the required chromosomal region is unravelled, ... Hegan DC, Narayanan L, Jirik FR, Edelmann W, Liskay RM, Glazer PM (December 2006). "Differing patterns of genetic instability ... Wei, Qingyi; Lei Li; David Chen (2007). DNA Repair, Genetic Instability, and Cancer. World Scientific. ISBN 981-270-014-5. [ ...
Genome instabilityEdit. Cancer cells generally have severe chromosomal abnormalities which worsen as the disease progresses. ... insights from genetic profiling". Epilepsy Res. 100 (3): 327-37. doi:10.1016/j.eplepsyres.2011.09.022. PMID 22019313.. ... See genome instability) InflammationEdit. Recent discoveries have highlighted the role of local chronic inflammation in ... Small genetic mutations are most likely what begin tumorigenesis, but once cells begin the breakage-fusion-bridge (BFB) cycle, ...
The clonal plasma cells involved in plasma cell dyscrasias exhibit a high degree of genetic instability. For example, the ... Deletion of chromosome 13 and chromosomal translocations but not increases in chromosome number have also been reported to ... Repetition of such genetic changes underlie the evolution of a clinically silent plasma cell dyscrasia to an overt malignancy. ... The progressive genetic changes in clonal plasma cells include accumulating numerous single nucleotide polymorphisms, increases ...
Such alterations are thought to occur early in progression to cancer and to be a likely cause of the genetic instability ... usually containing one or more oncogenes and adjacent genetic material. Translocation occurs when two separate chromosomal ... links to genetic instability". Carcinogenesis (review). 30 (7): 1073-81. doi:10.1093/carcin/bgp127. PMID 19468060.. ... "Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6". ...
... chromosomal instability MeSH C23.550.362.180.180 --- chromosome fragility MeSH C23.550.382.250 --- eosinophilic granuloma MeSH ... genetic predisposition to disease MeSH C23.550.291.687.500.500 --- anticipation, genetic MeSH C23.550.291.750 --- diseases in ... genetic MeSH C23.550.210.645.890 --- uniparental disomy MeSH C23.550.210.760 --- ring chromosomes MeSH C23.550.210.815 --- sex ... chromosome instability MeSH C23.550.210.110.180 --- chromosome fragility MeSH C23.550.210.170 --- chromosome breakage MeSH ...
Aoki K, Tamai Y, Horiike S, Oshima M, Taketo MM (2003). "Colonic polyposis caused by mTOR-mediated chromosomal instability in ... A genetic analysis of some FAP kindreds revealed that a common feature of the disease is a deletion of the APC gene. Further ... Genetic disruption of the cyclooxygenase-2 (COX-2) gene or inhibition of the activity of COX-2 with chemical inhibitors reduced ... 2000). "Genetic disruption of Ptgs-1, as well as Ptgs-2, reduces intestinal tumorigenesis in Min mice". Cancer Res. 60 (17): ...
Some chromosomal regions are more prone to rearrangement than others and thus are the source of genetic diseases and cancer. ... This instability is usually due to the propensity of these regions to misalign during DNA repair, exacerbated by defects of the ... Complex chromosomal rearrangements (CCR) are rarely seen in the general population and are defined as structural chromosomal ... In genetics, a chromosomal rearrangement is a type of chromosome abnormality involving a change in the structure of the native ...
... formed via active transcription has been shown to increase genetic instability, creating a propensity towards mutagenesis ... In mammalian cells, the presence of such sequences was found to produce large genomic fragment deletions due to chromosomal ... Both of these genetic modifications have been linked to the gene translocations found in cancers such as leukemia and lymphoma ...
... (also genetic instability or genomic instability) refers to a high frequency of mutations within the genome of a cellular lineage. These mutations can include changes in nucleic acid sequences, chromosomal rearrangements or aneuploidy. Genome instability does occur in bacteria. In multicellular organisms genome instability is central to carcinogenesis, and in humans it is also a factor in some neurodegenerative diseases such as amyotrophic lateral sclerosis or the neuromuscular disease myotonic dystrophy. The sources of genome instability have only recently begun to be elucidated. A high frequency of externally caused DNA damage can be one source of genome instability since DNA damages can cause inaccurate translesion synthesis past the damages or errors in repair, ...
... refers to the structure of sequences for eukaryotic chromosomes. Some fine sequences are included in more than one class, so the classification listed is not intended to be completely separate. Some sequences are required for a properly functioning chromosome: Centromere: Used during cell division as the attachment point for the spindle fibers. Telomere: Used to maintain chromosomal integrity by capping off the ends of the linear chromosomes. This region is a microsatellite, but its function is more specific than a simple tandem repeat. Throughout the eukaryotic kingdom, the overall structure of chromosome ends is conserved and is characterized by the telomeric tract - a series of short G-rich repeats. This is succeeded by an extensive subtelomeric region consisting of various types and lengths of repeats - the telomere associated sequences (TAS). These regions are generally low in gene density, low in transcription, low in recombination, late replicating, ...
Changes in the genome that allow uncontrolled cell proliferation or cell immortality are responsible for cancer. It is believed that the major changes in the genome that lead to cancer arise from mutations in tumor suppressor genes. In 1997, Kinzler and Bert Vogelstein grouped these cancer susceptibility genes into two classes: "caretakers" and "gatekeepers". In 2004, a third classification of tumor suppressor genes was proposed by Franziska Michor, Yoh Iwasa, and Martin Nowak; "landscaper" genes. Caretaker genes encode products that stabilize the genome. Fundamentally, mutations in caretaker genes lead to genomic instability. Tumor cells arise from two distinct classes of genomic instability: mutational instability arising from changes in the nucleotide sequence of DNA and chromosomal instability arising from improper rearrangement of chromosomes. In ...
... (also genetic instability or genomic instability) refers to a high frequency of mutations within the genome of a cellular lineage. These mutations can include changes in nucleic acid sequences, chromosomal rearrangements or aneuploidy. Genome instability does occur in bacteria. In multicellular organisms genome instability is central to carcinogenesis, and in humans it is also a factor in some neurodegenerative diseases such as amyotrophic lateral sclerosis or the neuromuscular disease myotonic dystrophy. The sources of genome instability have only recently begun to be elucidated. A high frequency of externally caused DNA damage can be one source of genome instability since DNA damages can cause inaccurate translesion synthesis past the damages or errors in repair, ...
Changes in the genome that allow uncontrolled cell proliferation or cell immortality are responsible for cancer. It is believed that the major changes in the genome that lead to cancer arise from mutations in tumor suppressor genes. In 1997, Kinzler and Bert Vogelstein grouped these cancer susceptibility genes into two classes: "caretakers" and "gatekeepers". In 2004, a third classification of tumor suppressor genes was proposed by Franziska Michor, Yoh Iwasa, and Martin Nowak; "landscaper" genes. Caretaker genes encode products that stabilize the genome. Fundamentally, mutations in caretaker genes lead to genomic instability. Tumor cells arise from two distinct classes of genomic instability: mutational instability arising from changes in the nucleotide sequence of DNA and chromosomal instability arising from improper rearrangement of chromosomes. In ...
The Evans technique is a surgical procedure to treat the mechanical instability of the lateral ankle ligaments. In the Evans procedure, the peroneus brevis muscle is separated from its musculotendinous compound and its proximal end is sutured to the peroneus longus. Then, an aperture is created from the postero-superior side of the fibula to the lateral malleolar tip. The tendon is then passed from the anterior side towards the posterior side through this aperture and sutured on itself. This procedure was designed to prevent talar tilt by reducing foot inversion and deterring chronic ankle instability. The disadvantage of the Evans procedure is its inability to restore the normal anatomical position of the anterior talofibular ligament. Hence, the stability at inversion is restored. The plantar pressure changes after the modified Evans procedure have not been measured. It is hypothesized that the modified Evans procedure will improve plantar ...
... in obstetrics refers to that shoulder of the fetus that faces the pubic symphysis of the mother during delivery. Depending upon the original position of the fetus, either the left or the right shoulder can be the anterior shoulder. It is known as the anterior shoulder as it faces the anterior of the mother. This distinction between the anterior and the posterior shoulder is important as the anterior shoulder is delivered first. Posterior shoulder The mechanics of birth Shoulder dystocia Fetal relationship Archie, Carol L.; Manoj K. Biswas (2003). "The Course & Conduct of Normal Labor & Delivery (Chapter 10)". In Alan H. DeCherney. Current Obstetric & Gynecologic Diagnosis & Treatment. Lauren Nathan (Ninth ed.). Lange/McGraw-Hill. p. 218. ISBN 0-07-118207-1 ...
... (PLC injuries) of the knee are injuries to a complex area formed by the interaction of multiple structures. Injuries to the posterolateral corner can be debilitating to the person and require recognition and treatment to avoid long term consequences. Injuries to the PLC often occur in combination with other ligamentous injuries to the knee; most commonly the anterior cruciate ligament (ACL) and posterior cruciate ligament (PCL). As with any injury, an understanding of the anatomy and functional interactions of the posterolateral corner is important to diagnosing and treating the injury. Patients often complain of pain and instability at the joint. With concurrent nerve injuries, patients may experience numbness, tingling and weakness of the ankle dorsiflexors and great toe extensors, or a footdrop. Follow-up studies by Levy et al. and Stannard at al. both examined failure rates for posterolateral corner repairs and reconstructions. Failure rates repairs were ...
The function of the PCL is to prevent the femur from sliding off the anterior edge of the tibia and to prevent the tibia from displacing posterior to the femur. Common causes of PCL injuries are direct blows to the flexed knee, such as the knee hitting the dashboard in a car accident or falling hard on the knee, both instances displacing the tibia posterior to the femur. The posterior drawer test is one of the tests used by doctors and physiotherapists to detect injury to the PCL. Surgery to repair the posterior cruciate ligament is controversial due to its placement and technical difficulty. An additional test of posterior cruciate ligament injury is the posterior sag test, where, in contrast to the drawer test, no active force is applied. Rather, the person lies supine with the leg held by another person so that the hip is flexed to 90 degrees and the knee 90 degrees. The main parameter in this test is step-off, which is the shortest distance from the femur to a hypothetical line that tangents ...
... is a syndrome consisting of arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. Hypermobility and subluxations of the joints, increased lateral excursion of the patellas and other findings reflect the increased ligament laxity. It is clinically similar to Marfan syndrome. Small thumbs Joint laxity in hands Joint laxity in feet Brachycephaly Short mandibular rami Castriota-Scanderbeg, Alessandro; Dallapiccola, Bruno (2006). Abnormal Skeletal Phenotypes: From Simple Signs to Complex Diagnoses. Springer Science & Business Media. p. 262. ISBN 9783540303619. Herring, John A. (2013). Tachdjian's Pediatric Orthopaedics E-Book: From the Texas Scottish Rite Hospital for Children. Elsevier Health Sciences. p. e483. ISBN 9781455737406. Retrieved 7 November 2017. Achard C (1902). "Arachnodactylie". Bull. Mem. Soc. Med. Hop. Paris. 19: 834-840. Duncan PA (1975). "The Achard syndrome". Birth Defects Orig Artic Ser. 11 (6): 69-73. PMID 1201353. PARISH JG (1960). ...
... or post-laminectomy syndrome is a condition characterized by chronic pain following back surgeries.[unreliable medical source?] Many factors can contribute to the onset or development of FBS, including residual or recurrent spinal disc herniation, persistent post-operative pressure on a spinal nerve, altered joint mobility, joint hypermobility with instability, scar tissue (fibrosis), depression, anxiety, sleeplessness, spinal muscular deconditioning and even Propionibacterium acnes infection. An individual may be predisposed to the development of FBS due to systemic disorders such as diabetes, autoimmune disease and peripheral blood vessels (vascular) disease. Common symptoms associated with FBS include diffuse, dull and aching pain involving the back or legs. Abnormal sensibility may include sharp, pricking, and stabbing pain in the extremities. The term "post-laminectomy syndrome" is used by some doctors to indicate the same condition as failed back syndrome. The ...
Rowe zadebiutował w federacji Ring of Honor (ROH) 1 czerwca 2013, gdzie w pierwszej walce przegrał z Bobbym Fishem. Do federacji powrócił 4 stycznia 2014 i wziął udział w turnieju Top Prospect Tournament 2014. Dotarł do finału, w którym przegrał z Hansonem. Pomimo przegranej, w kwietniu 2014 wspólnie z Hansonem zaczął regularnie występować w ROH jako drużyna War Machine. W sierpniu Rowe brał udział w wypadku motocyklowym i odniesienie wielu kontuzji spowodowało przerwę od występów na wiele miesięcy[6]. Powrócił 1 marca 2015 podczas gali ROH 13th Anniversary Show, gdzie asystował Hansonowi w jego pojedynku o World Championship w walce wieczoru[7]. 22 sierpnia 2015, War Machine pokonali Killer Elite Squad (Davey Boy Smitha Jr.'a i Lance'a Archera) w non-title matchu, dzięki czemu mogli zawalczyć o ich GHC Tag Team Championship (tytuły federacji Pro Wrestling Noah)[8]. Rowe i Hanson zawalczyli z nimi w Japonii 19 września, lecz zostali pokonani[9]. 18 grudnia podczas ...
Un ysgwydd wedi ei ddiddymu yw pan fo pen y humerus allan o'r cyd-ysgwydd.[1] Mae'r symptomau'n cynnwys poen ac ansefydlogrwydd ysgwydd. Gall cymhlethdodau gynnwys lesion Bankart, Hill-Sachs lesion, rhwygwr pyllau rotator, neu anaf i'r nerf axilari. Mae afleoliad ysgwydd yn aml yn digwydd o ganlyniad i syrthio ar fraich wedi'i estyn allan neu ar yr ysgwydd. Fel rheol, mae diagnosis yn seiliedig ar symptomau a chadarnheir gan pelydrau-X. Maent yn cael eu dosbarthu yn flaenorol, yn ôl, yn israddol, ac yn uwch na'r rhan fwyaf ohonynt yn flaenorol. Triniaeth yw trwy leihau'r ysgwydd a all gael ei gyflawni gan nifer o dechnegau, gan gynnwys tynnu sylw, cylchdroi allanol, triniaeth sgapwlar, a'r dechneg Stimson. Ar ôl lleihau mae pelydrau-X yn cael eu hargymell i'w gwirio. Efallai fydd y fraich mewn sling am ychydig wythnosau. Efallai y bydd llawdriniaeth yn cael ei argymell yn y rhai sydd â afleoliadon rheolaidd. Mae gan oddeutu 1.7% o bobl afleoliad ysgwydd ar un adeg mewn amser.[2] Yn yr Unol ...
... cervical carcinomas are defined by a recurrent pattern of chromosomal aberrations revealing high genetic instability and a ...
In AML, methylation profiling also revealed clustering dependent on the genetic status. Clearly, genetic instability and clonal ... Genomic instability may play an essential role in leukemogenesis by promoting the accumulation of genetic lesions responsible ... and advanced MDS and underlined the important role of dysfunctional telomeres in the development of genetic instability and ... The pathogenesis of myeloid neoplasia is complex and involves genetic and epigenetic alterations. Chromosome aberrations define ...
The focus of this review is to provide state-of-the-art knowledge on the genetic and resultant functional diversity of LPS ... The focus of this review is to provide state-of-the-art knowledge on the genetic and resultant functional diversity of LPS ... Chromosomal Instability Promotes Mutations that Decrease Virulence and Increase Survival. It has become dogma that once P. ... Evidence of Diversity in LPS Expression in P. aeruginosa due to Chromosomal Insertions. Large chromosomal inversions (LCIs), ...
... induce chromosomal instability) • Recent studies also investigated the interactions between genetic variants and maternal ... chromosomal instability 병리과정 • Maternal smoking before and during pregnancy associated with increased chromosomal instability ... Chromosomal instability(BPDE-1-DNA adducts) ; childhood cancer • Genotype(mother-fetus ; GSTT1) • Genetic polymorphism( ... These recent data suggest that maternal smoking contains geneotoxicants capable of inducing chromosomal instability(increase in ...
Genetic instability and darwinian selection in tumours. Trends Cell Biol 1999;9:M57-60. ... Centrosome amplification drives chromosomal instability in breast tumor development. Proc Natl Acad Sci U S A 2002;99:1978-83. ... Association between chromosomal instability and prognosis in colorectal cancer: a meta-analysis. Gut 2008;57:941-50. ... Chromosomal instability detected by fluorescence in situ hybridization in Japanese breast cancer patients. Clin Chim Acta 2001; ...
... centromeric heterochromatin instability, and facial anomalies) diagnosed in the elder brother based on the typical chromosomal ... Chromosomal Instability / genetics*. Facial Bones / abnormalities*. Female. Genetic Variation*. Heterochromatin / genetics. ... In a previous cytogenetic analysis this diagnosis had been missed due to low manifestation of the ICF chromosomal phenotype. ... Histopathology revealed classical Hodgkin lymphoma, a neoplasia which might have been facilitated by the underlying genetic ...
Chromosomal breakage-fusion-bridge events cause genetic intratumor heterogeneity. Proc Natl Acad Sci U S A 2000;97:5357-62. ... Chromosomal Instability Confers Intrinsic Multidrug Resistance. Alvin J.X. Lee, David Endesfelder, Andrew J. Rowan, Axel ... Chromosomal Instability Confers Intrinsic Multidrug Resistance. Alvin J.X. Lee, David Endesfelder, Andrew J. Rowan, Axel ... Chromosomal Instability Confers Intrinsic Multidrug Resistance. Alvin J.X. Lee, David Endesfelder, Andrew J. Rowan, Axel ...
1985) Method for gene replacement in Pseudomonas aeruginosa used in construction of recA mutants: recA-independent instability ... Chromosomal Integration, Tandem Amplification, and Deamplification in Pseudomonas putida F1 of a 105-Kilobase Genetic Element ... Chromosomal Integration, Tandem Amplification, and Deamplification in Pseudomonas putida F1 of a 105-Kilobase Genetic Element ... Chromosomal Integration, Tandem Amplification, and Deamplification in Pseudomonas putida F1 of a 105-Kilobase Genetic Element ...
Chromosome instability (CIN), or continual changes in chromosome complements, is an enabling feature of cancer; however, the ... Chromosomal instability (CIN) is one of the characteristics of cancer inherent for tumor initiation and progression, which is ... Dosage Compensation, Genetic. Genetic mechanisms that allow GENES to be expressed at a similar level irrespective of their GENE ... Chromosomal Instability. An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome ...
2006) Genetic reclassification of histologic grade delineates new clinical subtypes of breast cancer. Cancer Res 66:10292-10301 ... Mad1 up-regulation causes chromosomal instability. Sean D. Ryan, Eric M. C. Britigan, Lauren M. Zasadil, Kristen Witte, Anjon ... Mad1 up-regulation causes chromosomal instability. Sean D. Ryan, Eric M. C. Britigan, Lauren M. Zasadil, Kristen Witte, Anjon ... 2002) Unstable kinetochore-microtubule capture and chromosomal instability following deletion of CENP-E. Dev Cell 3:351-365. ...
Sporadic colorectal cancer essentially is a genetic disease in which chromosomal instability, found in 85% of cases, is central ... 2000) Chromosomal breakage-fusion-bridge events cause genetic intratumor heterogeneity. Proc Natl Acad Sci USA 97:5357-5362. ... 2008) Examining the link between chromosomal instability and aneuploidy in human cells. J Cell Biol 180:665-672. ... 2007) Extracellular superoxide production by Enterococcus faecalis promotes chromosomal instability in mammalian cells. ...
Their distributions in genomes are not random and often co-localize with sites of chromosomal breakage associated with genetic ... Non-B DNA structure-induced genetic instability and evolution.. Zhao J1, Bacolla A, Wang G, Vasquez KM. ... Current genome-wide sequence analyses suggest that the genomic instabilities induced by non-B DNA structure-forming sequences ... Model for stem-loop-mediated chromosomal inversion and strand exchange. Structure I illustrates the original (ancestral) ...
In order to examine the association of common genetic variation in the base-excision repair (BER) pathway with bladder cancer ... Genetic polymorphisms in DNA repair genes may impact individual variation in DNA repair capacity and alter cancer risk. ... Chromosomal instability in bladder cancer. *Andrea R. Florl, Wolfgang A. Schulz. *Archives of Toxicology ... Genetic variation in the base excision repair pathway and bladder cancer risk. @article{Figueroa2006GeneticVI, title={Genetic ...
Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and breakage. They often ... This can happen with or without loss of genetic material.. *Isochromosome: Formed by the mirror image copy of a chromosome ... A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal ... Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene ...
Buccal Cells and Micronuclei-Biological and Genetic Significance. Chromosomal instability is a common feature of human tumors. ... of chromosomal instability in oral cancer cells and the clinical relevance of factors associated with chromosomal instability ... Chromosomal instability and cytoskeletal defects in oral cancer cells. Proc Natl Acad Sci U S A 2000;97:303-8. ... Chromosomal instability and marker chromosome evolution oral squamous cell carcinoma. Genes Chromosomes Cancer 2004;41:38-46. ...
Genetic,Changes,that,Drive,Cancer,Cells,to,Proliferate,biological,advanced biology technology,biology laboratory technology, ... As cancer cells multiply unchecked, they can also undergo additional genetic mutations and chromosomal instability, giving the ... Those molecules appear to play a role in chromosomal instability, genetic mutations, and drug resistance that are ... "Chromosomal instability gives cancer cells an advantage," Manning said. "It enables the cells to grow and spread in ways that ...
2010 Mitotic chromosomal instability and cancer: mouse modelling of the human disease. Nat. Rev. Cancer 10: 102-115. ... of genetic interactions, (D) no. of physical interactions, (E) part of macromolecular complexes, (F) yeast gene size, and (G) ... of genetic/physical interactions, and gene size for each yeast gene were obtained from Yeastmine and each feature is ... Genetic variants can be screened rapidly and are characterized in the context of the human protein. For example, ...
3 The abbreviations used are: CI, chromosomal instability; BUB, budding uninhibited by benzimidazole; RT-PCR, reverse ... Lengauer C., Kinzler K. W., Vogelstein B. Genetic instability in colorectal cancers. Nature (Lond.), 386: 623-627, 1997. ... Genetic and Epigenetic Inactivation of Mitotic Checkpoint Genes hBUB1 and hBUBR1 and Their Relationship to Survival Masayoshi ... Genetic and Epigenetic Inactivation of Mitotic Checkpoint Genes hBUB1 and hBUBR1 and Their Relationship to Survival ...
Genetic variation in ALCAM and other chromosomal instability genes in breast cancer survival. ... Genetic variants in hormone-related genes and risk of breast cancer.. Clendenen T, Zeleniuch-Jacquotte A, Wirgin I, Koenig KL, ... Genetic polymorphisms of the GNRH1 and GNRHR genes and risk of breast cancer in the National Cancer Institute Breast and ... Genetic Polymorphisms in Vitamin D Metabolism and Signaling Genes and Risk of Breast Cancer: A Nested Case-Control Study. ...
7. The chromosomal instability (CIN). CIN is the most common in sporadic CRC and shows chromosomal abnormalities such as ... Genetic alterations found in human ACF include mutations in tumor suppressor genes, microsatellite instability, aberrant ... chromosomal instability, microsatellite instability and CpG island methylator phenotype. All three types of molecular ... 8. The microsatellite instability (MSI). MSI is a hallmark of defective DNA mismatch repair (MMR) genes such as hMLH1 or hMSH2 ...
These findings suggest that YTX can induce genomic alterations or imperfections in chromosomal segregation leading to permanent ... These findings suggest that YTX can induce genomic alterations or imperfections in chromosomal segregation leading to permanent ... Their presence corroborates genetic damage and chromosomal instability (Fenech et al., 2011). ... The protein suppresses chromosomal instability after mitotic arrest which may result in accumulation of polyploid cells (Dalton ...
He was the second patient with complex chromosomal rearrangement (CCR) referred to ou ... 10875876 - Histological and genetic analysis and risk assessment for chromosomal aberration after .... 9233576 - Microsatellite ... instability and other molecular abnormalities in childhood acute lymphob.... 108596 - Rhesus monkey (macaca mulatta) model in ... He was the second patient with complex chromosomal rearrangement (CCR) referred to our center because of infertility. We also ...
However, chromosomal division abnormalities can cause genetic instability and ultimately induce PTC development [4]. Spindle ... Abnormalities of mitosis can lead to aneuploidy and genomic instability, ultimately resulting in cell death or tumorigenesis [9 ... the combination of kinetochore and tubulin and regulate the depolymerization of tubulin and the synchronization of chromosomal ...
Seckel syndrome, a genetic disease characterized by low levels of ATR, results in increased instability of chromosomes at ... Casper, AM; Durkin, SG; Arlt, MF; Glover, TW (Oct 2004). "Chromosomal instability at common fragile sites in Seckel syndrome". ... Wells, RD (Feb 9, 1996). "Molecular basis of genetic instability of triplet repeats". The Journal of Biological Chemistry. 271 ... A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend ...
It is known that genetic/chromosomal instability can contribute to... *« first. *‹ previous ... is an immunomodulatory medication that is used in the lower-risk and intermediate-risk MDS settings and a specific genetic ...
  • In contrast, CIN + CRC cell lines are aneuploid and display a higher frequency of chromosomal missegregation errors during each mitosis relative to diploid cells ( 2 ). (aacrjournals.org)
  • A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break when the cell is exposed to partial replication stress. (wikipedia.org)
  • The instability of CFSs is proposed to stem from late replication: CFSs are likely to initiate proper replication but slow to complete it, introducing breaks from unreplicated regions of DNA. (wikipedia.org)
  • Late-replication may be a result of formation of non-B DNA structures like hairpins and toroids that stall the replication fork in AT rich regions, analogous to the proposed mechanism of rare fragile site instability. (wikipedia.org)
  • A shortage of the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. (medlineplus.gov)
  • We offer comprehensive molecular genetic analysis for a rapidly expanding group of bleeding, clotting and platelet disorders, Fanconi Anaemia and bone marrow failure/aplastic anaemia, alpha and beta-thalassaemias, sickle cell disease plus hereditary haemochromatosis. (sheffieldchildrens.nhs.uk)
  • Given our current knowledge, the experimental systems already established in X. laevis , and the rapid accumulation of genetic resources for the sister species Silurana (Xenopus) tropicalis , it is our conviction that these species provide an ideal alternative to the murine system for studying tumorigenesis and tumor immunity. (pubmedcentralcanada.ca)
  • Modern descriptions of biological evolution will typically elaborate on major contributing factors to evolution such as the formation of local micro-environments, mutational robustness, molecular degeneracy , and cryptic genetic variation. (wikipedia.org)
  • These data uncover an essential role of BRCA1 in maintaining genetic stability through the regulation of centrosome duplication and the G2-M checkpoint and provide a molecular basis for the role of BRCA1 in tumorigenesis. (nih.gov)