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.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.Telangiectasis: Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders.Syndrome: A characteristic symptom complex.Facial DermatosesHarmful Algal Bloom: An algal bloom where the algae produce powerful toxins that can kill fish, birds, and mammals, and ultimately cause illness in humans. The harmful bloom can also cause oxygen depletion in the water due to the death and decomposition of non-toxic algae species.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.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.Adenosine Triphosphatases: A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.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.Dwarfism: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.Eutrophication: The enrichment of a terrestrial or aquatic ECOSYSTEM by the addition of nutrients, especially nitrogen and phosphorus, that results in a superabundant growth of plants, ALGAE, or other primary producers. It can be a natural process or result from human activity such as agriculture runoff or sewage pollution. In aquatic ecosystems, an increase in the algae population is termed an algal bloom.Phytoplankton: Free-floating minute organisms that are photosynthetic. The term is non-taxonomic and refers to a lifestyle (energy utilization and motility), rather than a particular type of organism. Most, but not all, are unicellular algae. Important groups include DIATOMS; DINOFLAGELLATES; CYANOBACTERIA; CHLOROPHYTA; HAPTOPHYTA; CRYPTOMONADS; and silicoflagellates.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.Microcystis: A form-genus of CYANOBACTERIA in the order Chroococcales. Many species are planktonic and possess gas vacuoles.DNA Topoisomerases, Type I: DNA TOPOISOMERASES that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. DNA Topoisomerases, Type I enzymes reduce the topological stress in the DNA structure by relaxing the superhelical turns and knotted rings in the DNA helix.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.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.Abnormalities, MultipleDNA, Cruciform: A cross-shaped DNA structure that can be observed under the electron microscope. It is formed by the incomplete exchange of strands between two double-stranded helices or by complementary INVERTED REPEAT SEQUENCES that refold into hairpin loops on opposite strands across from each other.Photosensitivity Disorders: Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)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)Metabolic Syndrome X: A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)Rad51 Recombinase: A Rec A recombinase found in eukaryotes. Rad51 is involved in DNA REPAIR of double-strand breaks.Jews: An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.DNA Ligases: Poly(deoxyribonucleotide):poly(deoxyribonucleotide)ligases. Enzymes that catalyze the joining of preformed deoxyribonucleotides in phosphodiester linkage during genetic processes during repair of a single-stranded break in duplex DNA. The class includes both EC 6.5.1.1 (ATP) and EC 6.5.1.2 (NAD).DNA Replication: The process by which a DNA molecule is duplicated.Microcystins: Cyclic heptapeptides found in MICROCYSTIS and other CYANOBACTERIA. Hepatotoxic and carcinogenic effects have been noted. They are sometimes called cyanotoxins, which should not be confused with chemicals containing a cyano group (CN) which are toxic.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.Marine Toxins: Toxic or poisonous substances elaborated by marine flora or fauna. They include also specific, characterized poisons or toxins for which there is no more specific heading, like those from poisonous FISHES.Crossing Over, Genetic: The reciprocal exchange of segments at corresponding positions along pairs of homologous CHROMOSOMES by symmetrical breakage and crosswise rejoining forming cross-over sites (HOLLIDAY JUNCTIONS) that are resolved during CHROMOSOME SEGREGATION. Crossing-over typically occurs during MEIOSIS but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes.Genomic Instability: An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.Rothmund-Thomson Syndrome: An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.Antipain: An oligopeptide produced by various bacteria which acts as a protease inhibitor.Hydroxyurea: An antineoplastic agent that inhibits DNA synthesis through the inhibition of ribonucleoside diphosphate reductase.Dinoflagellida: Flagellate EUKARYOTES, found mainly in the oceans. They are characterized by the presence of transverse and longitudinal flagella which propel the organisms in a rotating manner through the water. Dinoflagellida were formerly members of the class Phytomastigophorea under the old five kingdom paradigm.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).Polynucleotide Ligases: Catalyze the joining of preformed ribonucleotides or deoxyribonucleotides in phosphodiester linkage during genetic processes. EC 6.5.1.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Nephrotic Syndrome: A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Replication Protein A: A single-stranded DNA-binding protein that is found in EUKARYOTIC CELLS. It is required for DNA REPLICATION; DNA REPAIR; and GENETIC RECOMBINATION.Krukenberg Tumor: Mucocellular carcinoma of the ovary, usually metastatic from the gastrointestinal tract, characterized by areas of mucoid degeneration and the presence of signet-ring-like cells. It accounts for 30%-40% of metastatic cancers to the ovaries and possibly 1%-2% of all malignant ovarian tumors. The lesions may not be discovered until the primary disease is advanced, and most patients die of their disease within a year. In some cases, a primary tumor is not found. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1685)Sjogren's Syndrome: Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.Lakes: Inland bodies of still or slowly moving FRESH WATER or salt water, larger than a pond, and supplied by RIVERS and streams.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Homozygote: An individual in which both alleles at a given locus are identical.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.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.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.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.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).Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Consanguinity: The magnitude of INBREEDING in humans.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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)Turner Syndrome: A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.Body Size: The physical measurements of a body.Wiskott-Aldrich Syndrome Protein: WASP protein is mutated in WISKOTT-ALDRICH SYNDROME and is expressed primarily in hematopoietic cells. It is the founding member of the WASP protein family and interacts with CDC42 PROTEIN to help regulate ACTIN polymerization.Neurofibromatosis 1: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).Cafe-au-Lait Spots: Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).Brachydactyly: Congenital anomaly of abnormally short fingers or toes.HandbooksGenetics, Medical: A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.BooksManuals as Topic: Books designed to give factual information or instructions.Zambia: A republic in southern Africa, south of DEMOCRATIC REPUBLIC OF THE CONGO and TANZANIA, and north of ZIMBABWE. Its capital is Lusaka. It was formerly called Northern Rhodesia.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.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.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.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.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Retinal Drusen: Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.Eye Diseases: Diseases affecting the eye.Nuclear Reprogramming: The process that reverts CELL NUCLEI of fully differentiated somatic cells to a pluripotent or totipotent state. This process can be achieved to a certain extent by NUCLEAR TRANSFER TECHNIQUES, such as fusing somatic cell nuclei with enucleated pluripotent embryonic stem cells or enucleated totipotent oocytes. GENE EXPRESSION PROFILING of the fused hybrid cells is used to determine the degree of reprogramming. Dramatic results of nuclear reprogramming include the generation of cloned mammals, such as Dolly the sheep in 1997.DNA Packaging: The folding of an organism's DNA molecule into a compact, orderly structure that fits within the limited space of a CELL or VIRUS PARTICLE.Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., GENETIC ENGINEERING) is a central focus; laboratory methods used include TRANSFECTION and CLONING technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction.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.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 Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Sick Building Syndrome: A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (ALVEOLITIS, EXTRINSIC ALLERGIC); allergic rhinitis (RHINITIS, ALLERGIC, PERENNIAL); ASTHMA; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)Irritable Bowel Syndrome: A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.Peutz-Jeghers Syndrome: A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.Beckwith-Wiedemann Syndrome: A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.Li-Fraumeni Syndrome: Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.Basal Cell Nevus Syndrome: Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.Progeria: An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.Lamin Type A: A subclass of developmentally regulated lamins having a neutral isoelectric point. They are found to disassociate from nuclear membranes during mitosis.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Eyebrows: Curved rows of HAIR located on the upper edges of the eye sockets.Tooth Eruption: The emergence of a tooth from within its follicle in the ALVEOLAR PROCESS of the MAXILLA or MANDIBLE into the ORAL CAVITY. (Boucher's Clinical Dental Terminology, 4th ed)Search Engine: Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.Book SelectionBook Reviews as Topic: Critical analyses of books or other monographic works.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)Rare BooksDatabases, Genetic: Databases devoted to knowledge about specific genes and gene products.Randomized Controlled Trials as Topic: Works about clinical trials that involve at least one test treatment and one control treatment, concurrent enrollment and follow-up of the test- and control-treated groups, and in which the treatments to be administered are selected by a random process, such as the use of a random-numbers table.Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.National Library of Medicine (U.S.): An agency of the NATIONAL INSTITUTES OF HEALTH concerned with overall planning, promoting, and administering programs pertaining to advancement of medical and related sciences. Major activities of this institute include the collection, dissemination, and exchange of information important to the progress of medicine and health, research in medical informatics and support for medical library development.

Evolution of the RECQ family of helicases: A drosophila homolog, Dmblm, is similar to the human bloom syndrome gene. (1/188)

Several eukaryotic homologs of the Escherichia coli RecQ DNA helicase have been found. These include the human BLM gene, whose mutation results in Bloom syndrome, and the human WRN gene, whose mutation leads to Werner syndrome resembling premature aging. We cloned a Drosophila melanogaster homolog of the RECQ helicase family, Dmblm (Drosophila melanogaster Bloom), which encodes a putative 1487-amino-acid protein. Phylogenetic and dot plot analyses for the RECQ family, including 10 eukaryotic and 3 prokaryotic genes, indicate Dmblm is most closely related to the Homo sapiens BLM gene, suggesting functional similarity. Also, we found that Dmblm cDNA partially rescued the sensitivity to methyl methanesulfonate of Saccharomyces cerevisiae sgs1 mutant, demonstrating the presence of a functional similarity between Dmblm and SGS1. Our analyses identify four possible subfamilies in the RECQ family: (1) the BLM subgroup (H. sapiens Bloom, D. melanogaster Dmblm, and Caenorhabditis elegans T04A11.6); (2) the yeast RECQ subgroup (S. cerevisiae SGS1 and Schizosaccharomyces pombe rqh1/rad12); (3) the RECQL/Q1 subgroup (H. sapiens RECQL/Q1 and C. elegans K02F3.1); and (4) the WRN subgroup (H. sapiens Werner and C. elegans F18C5.2). This result may indicate that metazoans hold at least three RECQ genes, each of which may have a different function, and that multiple RECQ genes diverged with the generation of multicellular organisms. We propose that invertebrates such as nematodes and insects are useful as model systems of human genetic diseases.  (+info)

The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells. (2/188)

Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by growth deficiency, immunodeficiency, genomic instability, and the early development of cancers of many types. BLM, the protein encoded by BLM, the gene mutated in BS, is localized in nuclear foci and absent from BS cells. BLM encodes a DNA helicase, and proteins from three missense alleles lack displacement activity. BLM transfected into BS cells reduces the frequency of sister chromatid exchanges and restores BLM in the nucleus. Missense alleles fail to reduce the sister chromatid exchanges in transfected BS cells or restore the normal nuclear pattern. BLM complements a phenotype of a Saccharomyces cerevisiae sgs1 top3 strain, and the missense alleles do not. This work demonstrates the importance of the enzymatic activity of BLM for its function and nuclear localization pattern.  (+info)

Oligomeric ring structure of the Bloom's syndrome helicase. (3/188)

Bloom's syndrome is a recessive human genetic disorder associated with an elevated incidence of many types of cancer. The Bloom's syndrome gene product, BLM, belongs to the RecQ subfamily of DNA helicases and is required for the maintenance of genomic stability in human cells - in particular, the suppression of reciprocal exchanges between sister chromatids. We have investigated the quaternary structure of BLM using a combination of size-exclusion chromatography and electron microscopy with reference-free image processing. We found that BLM forms hexameric ring structures with an overall diameter of approximately 13 nm surrounding a central hole of approximately 3.5 nm diameter. A fourfold symmetric square form with approximately 11 nm sides and a hole of approximately 4 nm diameter was also detected, which might represent a distinct oligomeric species or a side view of the hexameric form. Chromatography studies indicated that the majority of enzymatically active BLM has an apparent molecular mass of > 700 kDa, which is consistent with an oligomeric structure for BLM. This provides the first structural analysis of an oligomeric ring helicase of eukaryotic cellular origin. These results have implications for the mechanism of action of BLM and suggest that other RecQ family helicases, including the WRN protein associated with Werner's syndrome, might also adopt ring structures.  (+info)

Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal. (4/188)

The gene BLM, mutated in Bloom syndrome (BS), encodes the nuclear protein BLM, which when absent, as it is from most BS cells, results in genomic instability. A manifestation of this instability is an excessive rate of sister-chromatid exchange (SCE). Here we describe the effects on this abnormal cellular phenotype of stable transfection of normal BLM cDNAs into two types of BS cells, SV40-transformed fibroblasts and Epstein-Barr virus (EBV)-transformed lymphoblastoid cells. Clones of BLM-transfected fibroblasts produced normal amounts of BLM by western blot analysis and displayed a normal nuclear localization of the protein by immunofluorescence microscopy. They had a mean of 24 SCEs/46 chromosomes, in contrast to the mean of 69 SCEs in controls transfected only with the vector. BLM-transfected fibroblast clones that expressed highest levels of the BLM protein had lowest levels of SCE. The lymphoblastoid cells transfected with BLM had SCE frequencies of 22 and 42 in two separate experiments in which two different selectable markers were used, in contrast to 57 and 58 in vector-transfected cells; in this type cell, however, the BLM protein was below the level detectable by western blot analysis. These experiments prove that BLM cDNA encodes a functional protein capable of restoring to or toward normal the uniquely characteristic high-SCE phenotype of BS cells.  (+info)

Expression of the BLM gene in human haematopoietic cells. (5/188)

Bloom's syndrome (BS) is a rare autosomal recessive disorder characterized by stunted growth, sun-sensitive erythema and immunodeficiency. Chromosomal abnormalities are often observed. Patients with BS are highly predisposed to cancers. The causative gene for BS has been identified as BLM. The former encodes a protein, which is a homologue of the RecQ DNA helicase family, a family which includes helicases such as Esherichia coli RecQ, yeast Sgs1, and human WRN. WRN is encoded by the gene that when mutated causes Werner's syndrome. The function of BLM in DNA replication and repair has not yet been determined, however. To understand the function of BLM in haematopoietic cells and the cause of immunodeficiency in BS, expression of the BLM gene in various human tissues and haematopoietic cell lines was analysed and the involvement of BLM in immunoglobulin rearrangement examined. In contrast to WRN, BLM was expressed strongly in the testis and thymus. B, T, myelomonocytic and megakaryocytic cell lines also expressed BLM. All of the examined sequences at the junction of the variable (V), diversity (D) and joining (J) regions of the immunoglobulin heavy-chain genes were in-frame, and N-region insertions were also present. The frequency of abnormal rearrangements of the T cell receptor was slightly elevated in the peripheral T cells of patients with BS compared with healthy individuals, whereas a higher frequency of abnormal rearrangements was observed in the cells of patients with ataxia-telangiectasia (A-T). In DND39 cell lines, the induction of sterile transcription, which is required for class switching of immunoglobulin heavy-chain constant genes, was correlated with the induction of the BLM gene. Taking into consideration all these results, BLM may not be directly involved in VDJ recombination, but is apparently involved in the maintenance of the stability of DNA.  (+info)

Requirement of yeast SGS1 and SRS2 genes for replication and transcription. (6/188)

The SGS1 gene of the yeast Saccharomyces cerevisiae encodes a DNA helicase with homology to the human Bloom's syndrome gene BLM and the Werner's syndrome gene WRN. The SRS2 gene of yeast also encodes a DNA helicase. Simultaneous deletion of SGS1 and SRS2 is lethal in yeast. Here, using a conditional mutation of SGS1, it is shown that DNA replication and RNA polymerase I transcription are drastically inhibited in the srs2Delta sgs1-ts strain at the restrictive temperature. Thus, SGS1 and SRS2 function in DNA replication and RNA polymerase I transcription. These functions may contribute to the various defects observed in Werner's and Bloom's syndromes.  (+info)

Posttranscriptional gene silencing in Neurospora by a RecQ DNA helicase. (7/188)

The phenomenon of posttranscriptional gene silencing (PTGS), which occurs when a transgene is introduced into a cell, is poorly understood. Here, the qde-3 gene, which is required for the activation and maintenance of gene silencing in the fungus Neurospora crassa, was isolated. Sequence analysis revealed that the qde-3 gene belongs to the RecQ DNA helicase family. The QDE3 protein may function in the DNA-DNA interaction between introduced transgenes or with an endogenous gene required for gene-silencing activation. In animals, genes that are homologous to RecQ protein, such as the human genes for Bloom's syndrome and Werner's syndrome, may also function in PTGS.  (+info)

A role for PML and the nuclear body in genomic stability. (8/188)

The PML gene of acute promyelocytic leukemia (APL) encodes a cell-growth and tumor suppressor. PML localizes to discrete nuclear bodies (NBs) that are disrupted in APL cells. The Bloom syndrome gene BLM encodes a RecQ DNA helicase, whose absence from the cell results in genomic instability epitomized by high levels of sister-chromatid exchange (SCE) and cancer predisposition. We show here that BLM co-localizes with PML to the NB. In cells from persons with Bloom syndrome the localization of PML is unperturbed, whereas in APL cells carrying the PML-RARalpha oncoprotein, both PML and BLM are delocalized from the NB into microspeckled nuclear regions. Treatment with retinoic acid (RA) induces the relocalization of both proteins to the NB. In primary PML-/- cells, BLM fails to accumulate in the NB. Strikingly, in PML-/- cells the frequency of SCEs is increased relative to PML+/+ cells. These data demonstrate that BLM is a constituent of the NB and that PML is required for its accumulation in these nuclear domains and for the normal function of BLM. Thus, our findings suggest a role for BLM in APL pathogenesis and implicate the PML NB in the maintenance of genomic stability.  (+info)

*Bloom syndrome

... (often abbreviated as BS in literature), also known as Bloom-Torre-Machacek syndrome, is a rare autosomal ... People with Bloom Syndrome have a shortened life expectancy; the average life span is approximately 27 years. Bloom syndrome ... There is at least one person with Bloom syndrome who had five independent primary cancers. Persons with Bloom syndrome may ... However, several women with Bloom syndrome have had children. The most serious and common complication of Bloom syndrome is ...

*Bloom syndrome protein

... is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. The Bloom ... "Bloom syndrome". Genetics Home Reference. NIH. Retrieved 19 March 2013. De Muyt A, Jessop L, Kolar E, Sourirajan A, Chen J, ... Bloom syndrome protein has been shown to interact with: ATM, CHAF1A, CHEK1, FANCM, FEN1, H2AFX, MLH1 P53, RAD51L3, RAD51, RPA1 ... Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3' → 5' helicase activity. The normal ...

*Cancer

German J (March 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American ... Some of these syndromes include: certain inherited mutations in the genes BRCA1 and BRCA2 with a more than 75% risk of breast ... However, such germline mutations (which cause highly penetrant cancer syndromes) are the cause of only about 1 percent of ... Fearon ER (November 1997). "Human cancer syndromes: clues to the origin and nature of cancer". Science. 278 (5340): 1043-50. ...

*DNA repair

Other DNA repair disorders include: Werner's syndrome: premature aging and retarded growth Bloom's syndrome: sunlight ... German J (March 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American ... Humans born with inherited defects in DNA repair mechanisms (for example, Li-Fraumeni syndrome) have a higher cancer risk. The ... Fearon ER (November 1997). "Human cancer syndromes: clues to the origin and nature of cancer". Science. 278 (5340): 1043-50. ...

*Genome instability

German, J (Mar 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". Am J Hum ... Five of them (xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Down's syndrome, and triple-A syndrome) have a ... Rare fragile sites can lead to genetic disease such as fragile X mental retardation syndrome, myotonic dystrophy, Friedrich's ... Four (ataxia-telangiectasia, ataxia-telangiectasia-like disorder, Nijmegen breakage syndrome and Alzheimer's disease) are ...

*Carcinogenesis

German J (March 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American ... known as Li-Fraumeni syndrome. Other inherited tumor suppressor gene syndromes include Rb mutations, linked to retinoblastoma, ... For instance, individuals that are heterozygous for p53 mutations are often victims of Li-Fraumeni syndrome, and that are ... However, such germline mutations (which cause highly penetrant cancer syndromes) are the cause of only about 1 percent of ...

*DNA repair-deficiency disorder

Ataxia-telangiectasia Bloom syndrome Cockayne syndrome Fanconi anemia Progeria (Hutchinson-Gilford progeria syndrome) Rothmund- ... German J (1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". Am. J. Hum. ... Companion Reviews and Search Terms Bloom s syndrome - Companion Reviews and Search Terms Fanconi s anemia - Companion Reviews ... Thomson syndrome Trichothiodystrophy Werner syndrome Xeroderma pigmentosum Some examples of DNA repair defects causing ...

*RecQ helicase

WRN gene in Werner syndrome (WS), BLM gene in Bloom syndrome (BS), and RECQ4 in Rothmund-Thomson syndrome. These syndromes are ... Bloom syndrome Bernstein DA, Keck JL (June 2003). "Domain mapping of Escherichia coli RecQ defines the roles of conserved N- ... The budding yeast Saccharomyces cerevisiae encodes an ortholog of the Bloom syndrome (BLM) protein that is designated Sgs1 ( ... Cells from humans with Bloom syndrome are sensitive to DNA damaging agents such as UV and methyl methanesulfonate indicating ...

*RECQL4

Bloom syndrome is associated with mutations in the BLM gene and Werner syndrome is associated with mutations in the WRN gene. ... Yankiwski V, Marciniak RA, Guarente L, Neff NF (2000). "Nuclear structure in normal and Bloom syndrome cells". Proc. Natl. Acad ... In addition to the Rothmund-Thomson syndrome, RECQL4 mutations are also associated with RAPADILINO and Baller-Gerold syndromes ... There are two types of Rothmund Thomson syndrome and it is Type 2 that occurs in patients carrying deleterious mutations in ...

*TOP3A

Yin J, Sobeck A, Xu C, Meetei AR, Hoatlin M, Li L, Wang W (Apr 2005). "BLAP75, an essential component of Bloom's syndrome ... Wu L, Davies SL, North PS, Goulaouic H, Riou JF, Turley H, Gatter KC, Hickson ID (Mar 2000). "The Bloom's syndrome gene product ... Wu L, Davies SL, North PS, Goulaouic H, Riou JF, Turley H, Gatter KC, Hickson ID (Mar 2000). "The Bloom's syndrome gene product ... Wu L, Hickson ID (Nov 2002). "The Bloom's syndrome helicase stimulates the activity of human topoisomerase IIIalpha". Nucleic ...

*Flap structure-specific endonuclease 1

"Stimulation of flap endonuclease-1 by the Bloom's syndrome protein". J. Biol. Chem. 279 (11): 9847-56. doi:10.1074/jbc. ... hereditary cancer syndromes). Similarly, at least 12 DNA repair genes have frequently been found to be epigenetically repressed ... "Werner syndrome protein interacts with human flap endonuclease 1 and stimulates its cleavage activity". EMBO J. 20 (20): 5791- ...

*Aging-associated diseases

In Bloom syndrome, those afflicted most often die of cancer. Aging (senescence) increases vulnerability to age-associated ... Those with Werner's syndrome suffer from osteoporosis, cataracts and cardiovascular disease, but not neurodegeneration or ... Alzheimer's disease; those with Down syndrome suffer type 2 diabetes and Alzheimer's disease, but not high blood pressure, ...

*FANCF

"A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome". Molecular and Cellular Biology. 23 (10): 3417-26. ...

*FANCM

Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". Mol. ... "A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome". Mol. Cell. Biol. 23 (10): 3417-26. doi:10.1128/MCB. ...

*FANCE

"A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome". Mol. Cell. Biol. 23 (10): 3417-26. doi:10.1128/MCB. ...

*Fanconi anemia

Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". Mol. ... It should not be confused with Fanconi syndrome, a kidney disorder also named after Fanconi. FA is characterized by bone marrow ... Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific ... This is in contrast to Diamond-Blackfan anemia, which affects only erythrocytes, and Shwachman-Diamond syndrome, which ...

*Mutation

Ellis NA, Ciocci S, German J (February 2001). "Back mutation can produce phenotype reversion in Bloom syndrome somatic cells". ... Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency. Hypomorph, after Mullarian ... McKusick VA (July 1991). "The defect in Marfan syndrome". Nature. Nature Publishing Group. 352 (6333): 279-81. Bibcode: ... Judge DP, Dietz HC (December 2005). "Marfan's syndrome". Lancet. Elsevier. 366 (9501): 1965-76. doi:10.1016/S0140-6736(05)67789 ...

*Actinic keratosis

Examples of such genetic disorders include xeroderma pigmentosum and Bloom syndrome. Physicians usually diagnose actinic ...

*FANCL

2003). "A Multiprotein Nuclear Complex Connects Fanconi Anemia and Bloom Syndrome". Mol. Cell. Biol. 23 (10): 3417-26. doi: ...

*RAD51L3

Braybrooke JP, Li JL, Wu L, Caple F, Benson FE, Hickson ID (2003). "Functional interaction between the Bloom's syndrome ... RAD51L3 has been shown to interact with: Bloom syndrome protein, RAD51C, and XRCC2. GRCh38: Ensembl release 89: ENSG00000185379 ... "Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D)". J. Biol. Chem. 278 (48 ...

*XRCC2

... has been shown to interact with RAD51L3, Bloom syndrome protein and RAD51C. There are two known epigenetic causes of ... Braybrooke JP, Li JL, Wu L, Caple F, Benson FE, Hickson ID (Nov 2003). "Functional interaction between the Bloom's syndrome ... Braybrooke JP, Li JL, Wu L, Caple F, Benson FE, Hickson ID (Nov 2003). "Functional interaction between the Bloom's syndrome ...

*LIG1

Petrini JH, Huwiler KG, Weaver DT (1991). "A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells". Proc. Natl. ...

*RAD51C

Braybrooke JP, Li JL, Wu L, Caple F, Benson FE, Hickson ID (2004). "Functional interaction between the Bloom's syndrome ...

*Herpes simplex virus

... cells from Bloom's syndrome patients) are deficient in MR. These observations suggest that MR in HSV infections involves ... "Defective reactivation of ultraviolet light-irradiated herpesvirus by a Bloom's syndrome fibroblast strain". Cancer Research. ...

*RMI1

... an essential component of Bloom's syndrome protein complexes that maintain genome integrity". EMBO J. 24 (7): 1465-76. doi: ... The TOP3-RMI1 heterodimer associates with Sgs1 (Bloom helicase ortholog) to form a complex that catalyzes dissolution of double ...

*Obstetric ultrasonography

... of fetuses affected by Down syndrome exhibit this defect, 5% of fetuses flagged by the test do not have Down syndrome. ... Cunningham, F; Leveno, KJ; Bloom, SL; Spong, CY; Dashe, JS; Hoffman, BL; Casey BM, BM; Sheffield, JS (2013). "Fetal Imaging". ...
Bloom syndrome helicase (BLM) has key roles in homologous recombination repair, telomere maintenance, and DNA replication. Germ-line mutations in the BLM gene causes Bloom syndrome, a rare disorder characterized by premature aging and predisposition to multiple cancers, including breast cancer. The clinicopathologic significance of BLM in sporadic breast cancers is unknown. We investigated BLM mRNA expression in the Molecular Taxonomy of Breast Cancer International Consortium cohort (n = 1,950) and validated in an external dataset of 2,413 tumors. BLM protein level was evaluated in the Nottingham Tenovus series comprising 1,650 breast tumors. BLM mRNA overexpression was significantly associated with high histologic grade, larger tumor size, estrogen receptor-negative (ER(-)), progesterone receptor-negative (PR(-)), and triple-negative phenotypes (ps , 0.0001). BLM mRNA overexpression was also linked to aggressive molecular phenotypes, including PAM50.Her2 (P , 0.0001), PAM50.Basal (P , 0.0001), ...
Bloom syndrome is an archetypal "chromosome breakage syndrome." A recessively inherited mutation in the BLM gene leads to an inordinate frequency of chromosomal breaks and rearrangements, possibly via aberrant repair of breaks in double stranded DNA.7-10 The BLM mutation in turn gives rise throughout life to a high number of acquired somatic mutations. Genomic instability can affect virtually all genetic loci, cell types, and tissues in an individual with Bloom syndrome, so it is not surprising that manifold ocular abnormalities have been observed. As described here, a single patient in a short span of time displayed multiple independent retinal pathologies. In addition to early onset retinal drusen, which may be considered characteristic for the syndrome, he developed two different complications secondary to systemic diseases: diabetic retinopathy and leukaemic retinopathy.. Perhaps the most common ocular finding in Bloom syndrome is the presence of retinal drusen at an early age (fig 1); noted ...
We studied a new cellular model for Blooms syndrome consisting of HeLa cells constitutively expressing a shRNA specific for BLM and transiently transfected with a pool of siRNAs directed against sequences other than that targeted by shBLM. These cells display the growth defect, cytogenetic features (high levels of SCE), and mitotic abnormalities (anaphase bridges and lagging chromosomes) typical of Blooms syndrome cells.. We found that SCE formation in response to BLM depletion was strictly dependent on RAD51, showing an epistatic interaction between the two genes. In mammalian cells, RAD51 involvement has been reported in the formation of induced, but not spontaneous, SCEs (32), suggesting that the SCEs in Blooms syndrome cells are induced. Thus, the constitutively high levels of RAD51-mediated SCEs in Blooms syndrome cells are probably induced by the decrease in fork velocity in these cells, which may render them susceptible to DNA breaks (33, 34). RAD51 would then be recruited to the ...
Reactivité: Humain, Souris Hôte: Lapin Clone: Polyclonal Conjugué: HRP | Commandez Blm/Blooms Syndrome Protein Blm lanticorps (ABIN1712183).
Blooms syndrome (BS) is a recessive human genetic disorder characterized by short stature, immunodeficiency and elevated risk of malignancy. BS cells have genomic instability and an increased frequency of sister chromatid exchange. The gene mutated in BS, BLM, encodes a 3′-5′ helicase (BLM) with homology to bacterial recombination factor, RecQ. Human males homozygous for BLM mutations are infertile and heterozygous individuals display increased frequencies of structural chromosome abnormalities in their spermatozoa. Also, mutations in the Saccharomyces cerevisiae homolog of BLM, Sgs1, cause a delay in meiotic nuclear division and a reduction in spore viability. These observations suggest that BLM may play a role during meiosis. Our antibodies raised against the C terminus of the human protein specifically recognize both mouse and human BLM in western blots of cell lines and in successive developmental stages of spermatocytes, but fail to detect BLM protein in a cell line with a C-terminally ...
Light micrograph of human chromosomes from a lymphocyte blood cell in a patient with Blooms syndrome, showing sister chromatid exchange (SCE). The dark areas show an increase in chromosome breakage and rearrangement. This rare genetic disorder, also known as congenital telangiectatic erythema, leads to symptoms of Blooms syndrome, including small body size and dilated blood vessels (redness of skin on the face). - Stock Image C003/0949
BLM (ENST00000355112.8) at chr15:90717346-90816166 - Homo sapiens BLM RecQ like helicase (BLM), transcript variant 4, mRNA. (from RefSeq NM_001287248) BLM (ENST00000648453.1) at chr15:90717363-90815342 - Bloom syndrome RecQ like helicase (from HGNC BLM) BLM (ENST00000560821.1) at chr15:90808771-90815629 - Bloom syndrome RecQ like helicase (from HGNC BLM) BLM (ENST00000560559.1) at chr15:90790289-90794357 - Bloom syndrome RecQ like helicase (from HGNC BLM) BLM (ENST00000560509.5) at chr15:90717394-90815333 - Homo sapiens BLM RecQ like helicase (BLM), transcript variant 3, mRNA. (from RefSeq NM_001287247) BLM (ENST00000560136.5) at chr15:90762396-90811327 - Bloom syndrome RecQ like helicase (from HGNC BLM) BLM (ENST00000559724.5) at chr15:90717404-90815328 - The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H0YLV8) BLM (ENST00000559426.5) at chr15:90762364-90769181 - Bloom syndrome RecQ like helicase (from ...
Looking for information on Bloom Syndrome? Medigest has all you need to know about Bloom Syndrome - Symptoms and Signs, Causes, Treatments and definition
Blooms syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLM gene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially impo
Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3-5 direction (By similarity).
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
Complete information for BLM gene (Protein Coding), Bloom Syndrome RecQ Like Helicase, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Blooms syndrome is inherited as an autosomal recessive disease, typically manifesting itself as: unusually small size at birth but otherwise a normal degree of maturation; shortness of stature after birth, only rarely reaching five feet; redness of the skin of the face, mainly the bridge of the nose and the adjoining upper cheek areas, the lower eyelids, and the lower lip; and increased numbers of respiratory tract and ear infections, some of which are life-threatening.
Reagents, Tools and Custom Services for molecular biology, specializing in the fields of Nano-Antibody development (nAb), Cellular Reprogramming (iPSC), Genome Editing, Fluorescent Proteins, RNAi, Viral Packaging and Protein expression.
A new study establishes a molecular link that bridges two rare inherited disorders and explains why these diseases result in genetic instability. The research, published by Cell Press in the Dec. 24 issue of the journal Molecular Cell, may lead to a better understanding of the complex mechanisms that enable cells to repair damaged DNA.
The Blooms syndrome (BS) gene, BLM, plays an important role in the maintenance of genomic stability in somatic cells. The BLM protein is a 1417 amino…
The Blooms syndrome (BS) gene, BLM, plays an important role in the maintenance of genomic stability in somatic cells. The BLM protein is a 1417 amino…
malignancy in pediatrics; 80% to 85% of leukemia in children is ALL and represents 2400 new cases diagnosed each year. The peak incidence of adult and pediatric ALL is50 years and 5 years of age, respectively.2 The exact cause of ALL is unknown. Less than 5% of cases have been associated with inherited genetic syndromes (Down or Bloom syndrome) or with exposure to ionizing radiation and chemotherapeutic agents. In the development of B cells and T cells, various events occur to develop a competent immune system. In ALL, mutations occur in the development of B- and T-cell progenitors leading to dysregulated proliferation and clonal expansion.3 ...
The relationship between the spontaneous frequency of sister-chromatid exchanges (SCE) and tumorigenicity was studied in a series of hybrids between a C57BL melanoma cell line and diploid cells, but no correlation was found between the 2 variables. Hybrids in which malignancy was suppressed and malignant segregants derived from them showed virtually identical SCE frequencies. Variation of SCE frequencies was observed, however, between the different hybrid clones, and most hybrids showed consistently less SCE per chromosome than the corresponding parental cell types did under similar growth conditions. The lower SCE frequencies could neither be related to a higher number of chromosomes in the hybrid nor could they be related to the method of hybrid selection. These findings suggest that cell fusion might have induced epigenetic SCE frequency changes possible in the same way as modulation of SCE frequencies is known to occur in the humam leukocyte series. ...
Clamped homogeneous electrical field electrophoresis allows the separation of DNA molecules up to 10 Mbp. The fraction of DNA fragments of this size is correlated with the number of DSB induced at random in chromosomes by radiation. Clamped homogeneous electrical field is therefore suitable for the determination of DSB in mammalian cell DNA. However, the sensitivity of the method is low, such that large doses of radiation must be applied for quantitative analysis of DSB formation and rejoining. The results are usually expressed as the fraction of activity released [i.e., the fraction of cell DNA (≤10 Mbp) migrating out of the plugs].. Cells for pulsed-field gel electrophoresis were prepared according to Stenerlöw et al. (44). In this method, embedded cells are lysed in the cold to prevent the conversion of abasic sites BD and SSB into DSB. Briefly, cells grown with [2-14C]thymidine as above were rinsed twice with HBSS, fed with fresh medium, and synchronized at the G1-S junction with a ...
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectesia, erythema and cafe au lait spots. Affected individuals have increased risk of developing malignancies....
Bloom syndrome is a rare genetic disorder characterized by severe growth retardation and cancer predisposition. The disease is caused by a loss of function of the Bloom syndrome protein (BLM), a member of the RecQ family of DNA helicases. Here we report on the first 3D structure of a BLM fragment, a solution structure of the C-terminal helicase-and-ribonuclease D-C-terminal (HRDC) domain from human BLM. The structure reveals unique features of BLM HRDC that are distinct from the HRDC domain of Werner syndrome protein. In particular, BLM HRDC retains many acidic residues exposed to the solvent, which makes the domain surface extensively electronegative. Consistent with this, fluorescence polarization assays showed an inability of isolated BLM HRDC to interact with DNA substrates. Analyses employing ultracentrifugation, gel-filtration, CD spectroscopy and dynamic light scattering showed that the BLM HRDC domain exists as a stable monomer in solution. The results show that BLM HRDC is a compact, ...
Chromosomal breakage syndromes are a group of genetic disorders that are characterised by a defect in DNA repair mechanisms or genomic instability, and patients with these disorders show increased predisposition to cancer in addition to distinct clinical presentations. VCGS offers testing for Ataxia talengiectasia and Bloom syndrome.. ...
BS EN 983, 73/23/EEC, 89/392/EEC, 91/368/EEC, 93/44/EEC, 93/68/EEC BS 4196:Part 1, BS 4196:Part 2, BS EN ISO 3743-1, BS EN ISO 3743-2, BS EN ISO 3744, BS EN ISO 3746, BS EN ISO 9614-1, BS EN ISO 11201, BS EN ISO 11202, BS EN ISO 11203, BS EN ISO 11204, BS EN 292-1, BS EN 292-2, BS EN 294, BS EN 418, BS EN 563, BS EN 574, BS EN 982, BS EN 983, BS EN 1088, BS EN 10025, BS EN 20286-1, BS EN 60204-1, BS EN 61131-1, prEN 953, prEN 1760-1, prEN 50100-1, ISO 3745, ISO 3747, ISO/DIS 9614-2 ...
Title: Chromosomal aberrations and sister-chromatid exchanges in Lithuanian populations: effects of occupational and environmental exposures. Author: J.R Lazutka, R Lekevičius, V Dedonyt, L Maciulevičiūt Gervers, J Mierauskien, S Rudaitien, G Slapšyt. Reference: Mutation Research/Genetic Toxicology and Environmental Mutagenesis, Volume 445, Issue 2, 30 September 1999, Pages 225-239. DOI: http://dx.doi.org/10.1016/S1383-5718(99)00128-X. Keywords: Chromosomal aberration; Sister-chromatid exchange; Exposure; Heavy metal; Organic and inorganic volatile substance; Ionizing radiation; Chernobyl accident. Abstract: Cytogenetic analysis of chromosomal aberrations (CA) in 175,229 cells from 1113 individuals, both unexposed and occupationally or environmentally exposed to heavy metals (mercury and lead), organic (styrene, formaldehyde, phenol and benzo(a)pyrene) and inorganic (sulfur and nitrogen oxides, hydrogen and ammonium fluorides) volatile substances and/or ionizing radiation was performed. In ...
Patients with Werners syndrome (WS) exhibit pleiotropic properties characteristic of premature ageing, including the greying and loss of hair, cataract formation, osteoporosis, atherosclerosis, diabetes, hypogonadism and scleroderma (Epstein et al., 1966). Cultured WS cells display a limited capacity to proliferate and a prolonged S‐phase (Martin et al., 1970). Moreover, WS cells exhibit evidence of genomic instability exemplified by chromosomal breaks, multiple large deletions, translocations and altered telomere dynamics (Fukuchi et al., 1989).. The gene mutated in WS, WRN, encodes a member of the RecQ family of DNA helicases. This family also includes the human RECQL, RECQ4, RECQ5 and BLM proteins, as well as the Saccharomyces cerevisiae Sgs1 protein (Chakraverty and Hickson, 1999). Mutations in the BLM gene lead to Blooms syndrome. Cells defective in BLM also exhibit genomic instability, the hallmark being an increased level of sister chromatid exchanges (German, 1993). In addition, BS ...
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TY - JOUR. T1 - Poly(ADP-ribose) polymerase is a regulator of chemokine production. T2 - Relevance for the pathogenesis of shock and inflammation. AU - Haskó, György. AU - Mabley, Jon G.. AU - Németh, Zoltán H.. AU - Pacher, Pál. AU - Deitch, Edwin A.. AU - Szabo, Csaba. PY - 2002. Y1 - 2002. N2 - Background: Chemokines are key regulators of leukocyte traffic in various forms of inflammation and reperfusion injury. There is emerging evidence that the activation of the nuclear enzyme poly(ADP-ribose) polymerase (PARP) importantly contributes to the up-regulation of a variety of proinflammatory signal transduction pathways and associated genes. Materials and Methods: We tested whether the expression of the chemokines macrophage inflammatory protein (MIP)-1α and MIP-2 are under the control of PARP during inflammation. Results: Pharmacologic inhibition of PARP and genetic deletion of PARP suppressed the expression of MIP-1α and MIP-2 protein and mRNA in immunostimulated cultured murine ...
The induction of sister chromatid exchanges (SCEs) by triethylenemelamine (51183) (TEM) was studied in mice and hamsters. Male CD1-mice and Chinese-hamsters were injected intraperitoneally with 0 to 405 micrograms per kilogram (microg/kg) TEM. Twenty hours later they were killed and femurs, tibiae and spleens were removed. The marrow was flushed out of the femurs and tibiae. The bone marrow and sp
Title: Chromosomal aberrations and sister-chromatid exchanges in Lithuanian populations: effects of occupational and environmental exposures. Author: J.R Lazutka, R Lekevičius, V Dedonyt, L Maciulevičiūt Gervers, J Mierauskien, S Rudaitien, G Slapšyt. Reference: Mutation Research/Genetic Toxicology and Environmental Mutagenesis, Volume 445, Issue 2, 30 September 1999, Pages 225-239. DOI: http://dx.doi.org/10.1016/S1383-5718(99)00128-X. Keywords: Chromosomal aberration; Sister-chromatid exchange; Exposure; Heavy metal; Organic and inorganic volatile substance; Ionizing radiation; Chernobyl accident. Abstract: Cytogenetic analysis of chromosomal aberrations (CA) in 175,229 cells from 1113 individuals, both unexposed and occupationally or environmentally exposed to heavy metals (mercury and lead), organic (styrene, formaldehyde, phenol and benzo(a)pyrene) and inorganic (sulfur and nitrogen oxides, hydrogen and ammonium fluorides) volatile substances and/or ionizing radiation was performed. In ...
The effect of tetrandrine (518343) (TD) on enhancing the actions of the mutagens mitomycin-C (50077) (MMC) and cigarette smoke condensate (CSC) were examined. Chinese-hamster cell lines were exposed for 3 hours to: 20 microliters CSC; 40 or 80 micrograms/milliliter (microg/ml) TD; or 20, 40, or 80 microliters TD plus 20 microliters CSC without S9 activation. The cells were also exposed to 0.01micr
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
Human immunodeficiency virus (HIV)-resistant commercial sex workers provide a unique opportunity to study correlates of protection associated with natural resistance to HIV infection. Emerging data from studies of these individuals and other uninfected individuals who have been exposed to HIV suggest that low levels of immune activation may contribute to protection against infection. In the present study, HIV-resistant individuals were shown to have reduced frequencies of T cells expressing the activation marker CD69. They were also found to have elevated frequencies of regulatory T (T(reg)) cells, compared with HIV-negative control individuals. By controlling levels of T cell activation, T(reg) cells may contribute to HIV resistance by minimizing the pool of cells susceptible to infection ...
GoPubMed lists recent and important papers and reviews for tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2(tankyrase 2)
UPF 1069 is a selective poly(ADP-ribose) polymerase (PARP) 2 inhibitor (IC50 values are 0.3 and 8.0 μM for PARP-2 and PARP-1 respectively).
TY - JOUR. T1 - Inhibition of GAPDH activity by poly(ADP-ribose) polymerase activates three major pathways of hyperglycemic damage in endothelial cells. AU - Du, Xueliang. AU - Matsumura, Takeshi. AU - Edelstein, Diane. AU - Rossetti, Luciano. AU - Zsengellér, Zsuzsanna. AU - Szabó, Csaba. AU - Brownlee, Michael. PY - 2003/10. Y1 - 2003/10. N2 - In this report, we show that hyperglycemia-induced overproduction of superoxide by the mitochondrial electron transport chain activates the three major pathways of hyperglycemic damage found in aortic endothelial cells by inhibiting GAPDH activity. In bovine aortic endothelial cells, GAPDH antisense oligonucleotides activated each of the pathways of hyperglycemic vascular damage in cells cultured in 5 mM glucose to the same extent as that induced by culturing cells in 30 mM glucose. Hyperglycemia-induced GAPDH inhibition was found to be a consequence of poly(ADP-ribosyl)ation of GAPDH by poly(ADP-ribose) polymerase (PARP), which was activated by DNA ...
TY - JOUR. T1 - Inhibition of GAPDH activity by poly(ADP-ribose) polymerase activates three major pathways of hyperglycemic damage in endothelial cells. AU - Du, Xueliang. AU - Matsumura, Takeshi. AU - Edelstein, Diane. AU - Rossetti, Luciano. AU - Zsengellér, Zsuzsanna. AU - Szabo, Csaba. AU - Brownlee, Michael. PY - 2003/10. Y1 - 2003/10. N2 - In this report, we show that hyperglycemia-induced overproduction of superoxide by the mitochondrial electron transport chain activates the three major pathways of hyperglycemic damage found in aortic endothelial cells by inhibiting GAPDH activity. In bovine aortic endothelial cells, GAPDH antisense oligonucleotides activated each of the pathways of hyperglycemic vascular damage in cells cultured in 5 mM glucose to the same extent as that induced by culturing cells in 30 mM glucose. Hyperglycemia-induced GAPDH inhibition was found to be a consequence of poly(ADP-ribosyl)ation of GAPDH by poly(ADP-ribose) polymerase (PARP), which was activated by DNA ...
Figure 1. HDAC inhibition by TSA in MA-11 cells-histone acetylation and poly(ADP-ribose) polymerase protein status. The cells were treated with TSA at increasing concentrations (top) or at 300 nmol/L (+), or left untreated (−; bottom). Protein extracts prepared after 6 to 24 h of incubation were analyzed by Western blot hybridization with an antibody against acetylated histone H4 (acetyl-H4) or an anti-poly(ADP-ribose) polymerase (PARP) antibody that binds with higher affinity to the poly(ADP-ribose) polymerase cleavage fragment (85 kDa) than to the uncleaved fragment (116 kDa). Bottom, included is a protein extract from MA-11 cells treated (+) with 10 ng/mL of a Pseudomonas exotoxin A-containing immunotoxin (IT), used as positive control for poly(ADP-ribose) polymerase cleavage (21). Expression of α-tubulin was measured as loading control. ...
Poly(ADP-ribose) polymerase activity in nuclei isolated from differentiating cardiac muscle of the rat has been characterized and its activity measured during development. Optimum enzyme activity is observed at pH 8.5. Poly(ADP-ribose) polymerase is inhibited by ATP, thymidine, nicotinamide, theophylline, 3-isobutyl-1-methylxanthine and caffeine and stimulated by actinomycin D. The activity measured under optimal assay conditions increases during differentiation of cardiac muscle and is inversely related to the rate of DNA synthesis and to the activities of DNA polymerase α and thymidine kinase. When DNA synthesis and the activity of DNA polymerase α are inhibited in cardiac muscle of the 1-day-old neonatal rat by dibutyryl cyclic AMP or isoproterenol, the specific activity of poly(ADP-ribose) polymerase measured in isolated nuclei is increased. The concentration of NAD+ in cardiac muscle increases during postnatal development. In the adult compared with the 1-day-old neonatal rat the ...
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Homologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves the generation of a single-stranded region of DNA, followed by strand invasion, formation of a Holliday junction, DNA synthesis using the intact strand as a template, branch migration and resolution. It is investigated that RecA/Rad51 family proteins play a central role. The breast cancer susceptibility protein Brca2 and the RecQ helicase BLM (Bloom syndrome mutated) are tumor suppressors that maintain genome integrity, at least in part, through HR ...
Homologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves the generation of a single-stranded region of DNA, followed by strand invasion, formation of a Holliday junction, DNA synthesis using the intact strand as a template, branch migration and resolution. It is investigated that RecA/Rad51 family proteins play a central role. The breast cancer susceptibility protein Brca2 and the RecQ helicase BLM (Bloom syndrome mutated) are tumor suppressors that maintain genome integrity, at least in part, through HR ...
FGF2 is expressed in all stages of human prostate cancer. To determine whether FGF2 plays a critical role in prostate cancer progression, we have compared prostate cancer progression in TRAMP mice with hemi- or homozygous inactivation of FGF2 with that of WT littermate controls. Our results show that inactivation of either one or both alleles of FGF2 leads to significantly increased survival by inhibiting progression to the poorly differentiated phenotype and metastatic disease. It is noteworthy that inactivation of even one FGF2 allele has a strong influence on tumor progression. Analysis of mouse models of cancer has revealed that profound phenotypic consequence can result from haploinsufficiency of tumor suppressor gene function. For example, we have demonstrated previously that loss of even one PTEN allele is associated with increased rates of tumor progression in TRAMP mice (21) . Similarly, Goss et al. (30) have recently demonstrated that mice carrying only one allele of the Bloom syndrome ...
Progeria is a type of genetic disorder where aging is rapid and premature. There are different genetic disorders with this condition. All of them reflect rapid premature aging in victims. Collectively, they are called progeroid syndromes. But they...
The gene PADPRP codes for a nuclear enzyme Poly (ADP-ribose) polymerase. This enzyme is a DNA binding protein that modulates chromatin structure adjacent to DNA strand breaks (Smulson and Sugimura...
The bupivacaine-induced generation of reactive oxygen species (ROS), which was initiated within 5 hrs and preceded the activation of caspase-3 and poly ADP-ribose polymerase (PARP) degradation, was suggested to trigger apoptosis, exhibited by Hoechst 33258 nuclear staining and DNA fragmentation ...
LAMINATED. A visual guide to the human genome. Provides a detailed view of all 23 human chromosome pairs and the location of the genes which cause the most common genetic disorders …
Tankyrase antibody, N-term (tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase) for WB. Anti-Tankyrase pAb (GTX88517) is tested in Human samples. 100% Ab-Assurance.
BLM localizes with hRAD51, RP-A, and PML after IR. Proliferating WI-38, BS HG2654, and NB4 cells were X-irradiated (5 Gy) where indicated. 10 h after irradiatio
Hi, We have Collection manager 3.7.1 with 2* SCE8000. While both of the SCE8K boxes are sending RDR to single collction manager, i am observing RDR drops from both the SCEs (one is dropping more than other). While checking the same on collection
Accumulation of lipid-laden foam cells of monocyte origin plays an important role in atherogenesis. Therefore, for determination of the mechanism of accelerated atherogenesis in Werners syndrome, studies were carried out on the metabolism of acetylated low density lipoprotein (LDL) by monocyte-derived macrophages from patients with this syndrome. These macrophages showed abnormally high activities for degradation and uptake of 125I-acetylated LDL, incorporation of 14C-oleate into cellular cholesteryl ester in the presence of acetylated LDL, and accumulation of cholesteryl ester derived from internalized 3H-cholesteryl linoleate-labeled acetylated LDL. However, these macrophages showed normal binding of 125I-acetylated LDL. These results indicate that in monocyte-derived macrophages of patients with Werners syndrome, the uptake, lysosomal hydrolysis, and re-esterification of free cholesterol are enhanced with no change in the receptor binding of acetylated LDL. As a result, these macrophages ...
TY - JOUR. T1 - SINDROME DI WERNER E MENINGIOMA INTRACRANICO. AU - Borroni, G.. AU - Vignati, G.. AU - Zaccone, C.. AU - Brazzelli, V.. AU - Scappaticci, S.. AU - Cerimele, D.. AU - Rabbiosi, G.. PY - 1989. Y1 - 1989. N2 - A case of Werners Syndrome in a 47-year-old man, with typical features of pangeria associated with intracranial meningioma is described. A review of the literature showed that meningioma is the most frequent benign neoplasm in Werners Syndrome. Meningioma is a peculiar model of neoplasm, because of the frequency of cytogenetical aberrations concerning chromosome n. 22. Either chromosome n. 22 and other chromosomal alterations could be detected in peripheral blood lymphocytes of our patient. These findings suggest a correlation between chromosomal instability and the onset of neoplasms in Werners Syndrome. Furthermore, the possibility of detecting chromosome n. 22 aberrations in peripheral blood lymphocytes of Werners Syndrome patients could provide a clue to the presence ...
Recent evidence obtained with transgenic knockout mice suggests that the enzyme poly(ADP-ribose)polymerase (PARP) does not play a direct role in DNA break processing [1, 2]. Nevertheless,...
The results of SOLO-2 further demonstrate the efficacy and significant clinical value of Lynparza for women faced with this devastating disease that strikes when women are in the prime of their lives," said Dr. Allan Covens, Professor and Chair of the Division of Gynecologic. Oncology at the University of Toronto and Sunnybrook Health Sciences Centre. "This study shows that this treatment can make a meaningful difference for patients with BRCA-mutated ovarian cancer, potentially extending their cancer-free lives by over two years.". Lynparza was granted a Notice of Compliance with Conditions (NOC/c) by Health Canada on April 29, 2016, based on meaningful evidence of clinical efficacy, safety and long-term tolerability, becoming the first and only PARP (poly ADP-ribose polymerase) inhibitor approved as a maintenance treatment for patients with platinum-sensitive relapsed BRCA-mutated ovarian cancer.2. "Treatment options available for women with ovarian cancer are extremely limited, so these ...
Genetic information processingDNA metabolismDNA replication, recombination, and repairATP-dependent DNA helicase, RecQ family (TIGR00614; EC 3.6.4.12; HMM-score: 39) ...
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The sensitivity of various methods suitable for biomonitoring the exposure to genotoxicants was compared in an animal model. The results were related to the presence of genotoxic effects in the target organ. Groups of male Wistar rats were given one oral dose of 0, 0.1, 1, 10 or 200 mg 2-acetylaminofluorene (2-AAF)/5 ml dimethyl sulphoxide/kg body weight. Peripheral blood cells, excreta, liver and spleen were collected at different time intervals after dosing. Mutagenicity in urine and extracts of faeces was determined using the Ames test with Salmonella typhimurium TA98 with and without S9 and with and without ??-glucuronidase. Genotoxic effects were studied by measuring DNA-adduct formation in lymphocytes, liver and spleen, and sister-chromatid exchanges (SCEs) in lymphocytes. DNA adducts were measured with immunochemical techniques and postlabelling methods. Mutagenecity in urine and faeces, collected during the first 24 h after treatment, was detected at 2-AAF doses of 1 mg/kg b.w. and ...
Small-molecule inhibitors. The PARP inhibitors KU0058684 (IC50, 3.2 nmol/L), KU0058948 (IC50, 3.4 nmol/L), and the control drug KU0051529 (IC50, 730 nmol/L) are described in ref. 8. KU0058684 and KU0058948 are potent and specific inhibitors of PARP-1 and PARP-2 but not of vault PARP or tankyrase PARP ( 8). The ataxia-telangiectasia mutated (ATM) inhibitor KU0055933 (IC50, 13 nmol/L) has been previously validated ( 12). Caffeine was purchased from Sigma (Poole, United Kingdom), dissolved in DMSO, and stored at −20°C.. Cell lines. Mouse fibroblasts from wild-type (WT) Fancd2−/−, Fanca−/−, Fancc−/−, and Fanca−/−c−/− animals were obtained from the Fanconi Anemia Cell Repository, Oregon Health and Science University (Portland, OR). These cells were maintained in DMEM supplemented with FCS (10%, v/v), glutamine, and antibiotics. RAD54- and RAD52-deficient embryonic stem cells were kind gifts of R. Kanaar and J.H. Hoeijmakers (Erasmus Medical Center, Rotterdam, the Netherlands), ...
In one study, fenvalerate increased the frequency of enzyme-positive foci in rat liver. Administration of fenvalerate to mice in vivo induced chromosomal aberrations and micronucleus in bone marrow and morphological abnormalities in sperm. Induction of chromosomal aberrations and sister-chromatid exchange was observed in cultured human cells, and aneuploidy was seen in insects. Fenvalerate inhibited gap-junctional intercellular communication in cultured mammalian cells. It did not induce mutation in insects or bacteria ...
Prostate cancer (PC) initially depends on androgen receptor (AR) signaling for survival and growth. Therapeutics designed to suppress AR activity serve as the primary intervention for advanced disease. However, supraphysiological androgen (SPA) concentrations can produce paradoxical responses leading to PC growth inhibition. We sought to discern the mechanisms by which SPA inhibits PC and to determine if molecular context associates with antitumor activity. SPA produced an AR-mediated, dose-dependent induction of DNA double-strand breaks, G0/G1 cell-cycle arrest, and cellular senescence. SPA repressed genes involved in DNA repair and delayed the restoration of damaged DNA, which was augmented by poly (ADP-ribose) polymerase 1 inhibition. SPA-induced double-strand breaks were accentuated in BRCA2-deficient patients with PC, and combining SPA with poly (ADP-ribose) polymerase or DNA-dependent protein kinase inhibition further repressed growth. Next-generation sequencing was performed on ...
Poly(ADP-ribosylation) is a post-translational modification of nuclear proteins involved in several cellular events as well as in processes that characterize the infective cycle of some viruses. In the present study, we investigated the role of poly(ADP-ribosylation) on Epstein-Barr Virus (EBV) lytic cycle activation. Inhibition of PARP-1 by 3-aminobenzamide (3-ABA) during EBV induction, diminished cell damage and apoptosis in the non-productive Raji cell line while markedly reducing the release of viral particles in the productive Jijoye cells. Furthermore, incubation with 3-ABA up-regulated the levels of LMP1 and EBNA2 latent viral proteins. At the same time, it slightly affected the expression of the immediate early BZLF1 gene, but largely down-regulated the levels of the early BFRF1 protein. The modulation of the expression of both latent and lytic EBV genes appeared to be post-transcriptionally regulated. Taken together the data indicate that PARP-1 plays a role in the progression of EBV lytic
Mood Disorders - These kind of illnesses are also influential on the human genetic disorder with symptoms unique to the human genetic disorder and to encourage the human genetic disorder in anorexia nervosa. Consciousness management and the human genetic disorder can aggravate symptoms of anxiety disorder. These conditions affect peoples lives on a constant rise, the global scientific community is started to become alarmed. Statistics show that although the what genetic disorder of patients with orthorexia nervosa do the human genetic disorder like planning the human genetic disorder next one will strike. These attacks may be that teaching a child to pass through their childhood without appropriate treatment sentences them to a body weight leaner than needed for health is highly promoted by current fashion trends, sales campaigns for special foods, and in some professionals views, is that we are potentially missing children who have a public disaster on our hands. Treatment of children parents ...
Purpose Poly (ADP-ribose) polymerase (PARP) inhibitor, is a milestone in treatment of ovarian cancer. However, there is no real world study from China regarding the clinical outcome of the taking PARP...
R. Brad Jones, Lishomwa C. Ndhlovu, Jason D. Barbour, Prameet M. Sheth, Aashish R. Jha, Brian R. Long, Jessica C. Wong, Malathy Satkunarajah, Marc Schweneker, Joan M. Chapman, Gabor Gyenes, Bahareh Vali, Martin D. Hyrcza, Feng Yun Yue, Colin Kovacs, Aref Sassi, Mona Loutfy, Roberta Halpenny, Desmond Persad, Gerald Spotts, Frederick M. Hecht, Tae-Wook Chun, Joseph M. McCune, Rupert Kaul, James M. Rini, Douglas F. Nixon, Mario A. Ostrowski ...
Ninety percent depancreatized rats received daily intra-peritoneal injection of 0.5 g/kg nicotinamide and 0.05 g/kg 3-aminobenzamide, potent inhibitors of islet poly(ADP-ribose) synthetase. One to three months after the partial pancreatectomy, urinary and plasma glucose levels in nicotinamide- and 3-aminobenza-mide-treated rats were markedly lower than those in saline-treated control rats. Morphologic examination of the remaining pancreata revealed that islets in the poly(ADP-ribose) synthetase inhibitor-treated rats were markedly enlarged and consisted largely of B-cells. These results suggest that poly(ADP-ribose) synthetase inhibitors induce islet B-cell regeneration, thereby preventing or improving diabetes mellitus in partially depancreatized rats.. ...
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The protein encoded by this gene is a cysteine-aspartic acid protease that plays a central role in the execution-phase of cell apoptosis. The encoded protein cleaves and inactivates poly(ADP-ribose) polymerase while it cleaves and activates sterol regulatory element binding proteins as well as caspases 6, 7, and 9. This protein itself is processed by caspases 8, 9, and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimers disease. [provided by RefSeq, Aug 2017] ...
Advt. No. 21/2016 Walk-in Interview for Project-JRF Position on November 29, 2016 at 10.00 AM Title of Project:. Investigating the role of BLM helicase as a global tumor suppressor: understanding its regulatory loops and using the knowledge for therapeutic and clinical applications in cancer biology. Duration:. Initially for 1 year. May be extended on annual evaluation basis during the duration of the project.. Essential Qualifications:. M.Sc./MPharm or an equivalent degree with experience in synthetic organic chemistry.. Principal Investigator:. Dr. Avinash Bajaj, Associate Professor. Fellowship:. Rs.25,000/- + 30% HRA per month. How to Apply:. Interested candidates should appear for walk-in interview with all his/her certificates at following address at 10.00 AM on November 29, 2016 along with filled application form (attached here).. ...
These data are provided by Bureau of Land Management (BLM) "as is" and may contain errors or omissions. The User assumes the entire risk associated with its use of these data and bears all responsibility in determining whether these data are fit for the Users intended use. The information contained in these data is dynamic and may change over time. The data are not better than the original sources from which they were derived, and both scale and accuracy may vary across the data set. These data may not have the accuracy, resolution, completeness, timeliness, or other characteristics appropriate for applications that potential users of the data may contemplate. The User is encouraged to carefully consider the content of the metadata file associated with these data. These data are neither legal documents nor land surveys, and must not be used as such. Official records may be referenced at most BLM offices. Please report any errors in the data to the BLM office for which it was obtained. The BLM ...
These data are provided by Bureau of Land Management (BLM) "as is" and might contain errors or omissions. The User assumes the entire risk associated with its use of these data and bears all responsibility in determining whether these data are fit for the Users intended use. The information contained in these data is dynamic and may change over time. The data are not better than the sources from which they were derived, and both scale and accuracy may vary across the data set. These data might not have the accuracy, resolution, completeness, timeliness, or other characteristics appropriate for applications that potential users of the data may contemplate. The User is encouraged to carefully consider the content of the metadata file associated with these data. These data are neither legal documents nor land surveys, and must not be used as such. Official records may be referenced at most BLM offices. Please report any errors in the data to the BLM office from which it was obtained. The BLM ...
Poly(ADP-ribose) polymerase-1 (PARP-1) is a member of the PARP enzyme family consisting of PARP-1 and several recently identified novel poly(ADP-ribosylating ...
Title:PARP Inhibitors in Epithelial Ovarian Cancer. VOLUME: 13 ISSUE: 2. Author(s):Kristin N. Taylor and Ramez N. Eskander*. Affiliation:Rebecca and John Moores Cancer Center, Department of Reproductive Medicine, Division of Gynecologic Oncology, University of California, San Diego, La Jolla, CA, Rebecca and John Moores Cancer Center, Department of Reproductive Medicine, Division of Gynecologic Oncology, University of California, San Diego, La Jolla, CA. Keywords:BRCA mutation, homologous recombination deficiency, PARP inhibitor, poly (ADP-ribose) polymerase, ovarian cancer, synthetic lethality.. Abstract:Background: Ovarian cancer remains the most common lethal gynecologic malignancy. The therapeutic gains with the use of traditional cytotoxic chemotherapy in advanced stage disease remain limited, reflecting the need for novel therapies. Poly(ADP-ribose) polymerase (PARP) inhibitors have recently demonstrated a significant therapeutic effect in patients with recurrent, high grade serous ovarian ...
Oxidative DNA damage to cells activates poly(ADP-ribose)polymerase-1 (PARP-1) and the poly(ADP-ribose) formed is rapidly degraded to ADP-ribose by poly(ADP-ribose)glycohydrolase (PARG). Here we show that PARP-1 and PARG control extracellular Ca(2+) fluxes through melastatin-like transient receptor potential 2 channels (TRPM2) in a cell death signaling pathway. TRPM2 activation accounts for essentially the entire Ca(2+) influx into the cytosol, activating caspases and causing the translocation of apoptosis inducing factor (AIF) from the inner mitochondrial membrane to the nucleus followed by cell death. Abrogation of PARP-1 or PARG function disrupts these signals and reduces cell death. ADP-ribose-loading of cells induces Ca(2+) fluxes in the absence of oxidative damage, suggesting that ADP-ribose is the key metabolite of the PARP-1/PARG system regulating TRPM2. We conclude that PARP-1/PARG control a cell death signal pathway that operates between five different cell compartments and communicates ...
More than 5000 passengers of Tokyo subway trains were injured with toxic chemicals including the nerve gas sarin. Most of the victims examined had marked miosis and decreased serum cholinesterase activity. To monitor the genetic aftereffects of sarin exposure, we measured sister chromatid exchanges SCEs of the victims using peripheral blood...
Certain genetic diseases are more common in individuals of Ashkenazi Jewish heritage (Jewish individuals of Eastern European ancestry) compared to the non-Jewish population. The majority of these conditions are inherited in an autosomal recessive manner. This group of diseases includes Gaucher, Tay-Sachs, familial dysautonomia, Canavan, mucolipidosis IV, Niemann-Pick Type A and B, FANCC-related Fanconi anemia, and Bloom syndrome. While these conditions are observed outside of the Ashkenazi Jewish population, they occur at a lower frequency. It is estimated that an individual of Ashkenazi Jewish ancestry has a 20% to 25% chance of being a carrier of 1 of these diseases.. Gaucher Disease:. Gaucher disease is a relatively rare lysosomal storage disorder resulting from a deficiency of acid beta-glucocerebrosidase. Mutations in the beta-glucocerebrosidase gene, GBA, cause the clinical manifestations of Gaucher disease. There are 3 major types of Gaucher disease: nonneuropathic (type 1), acute ...
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activation associated with lysosomal rupture executes necrosis Best Kratom Vendor Right Now Marty of the postischemic CA1 neurons in primates. In vitro antioxidant and free radical scavenging activity of Cyperus rotundus.. Functions of poly (ADP-ribose) polymerase (PARP) in DNA repair genomic integrity and cell death. Fundamental and Molecular Mechanisms of Mutagenesis 477:97-110. To die or not to die: An overview of apoptosis and its role in disease.. Mine NEVER did it to me and I graduated with AGREGIA cum laude with my undergraduate degrees. I got two different degrees with two separate complete majors each with their own individual minor: English and business. I did well and I did actually scheduled and illegal drugs. I can do anything I want. I have an two agregia cum laude bachelors with a minor on each an MBA and a Ph. I graduated at the top of my class by the time I was 24. If I can do ALLLLLL that while using heroin? Your son can do more relaxing and remaining stress-free from parental ...
E4orf6 exports and stabilizes ARE-mRNAs. (A) HuR, which bound to mRNA, was isolated from the nuclear (N) and cytoplasmic (C) fractions of each BRK cell exposed to UV light by oligo (dT)-cellulose chromatography (left). The amount of HuR in total extract (TE) of each cell is shown (middle). The fractions and TE were analyzed by immunoblotting with antibodies to β-tubulin and poly(ADP-ribose)polymerase (PARP; right). (B) The amount of c-fos, c-myc, COX-2, and GAPDH mRNA expressed in the cytoplasm of each cell was measured by quantitative real-time RT-PCR. BRK E1 and E1+E4 cells (left), 293 cells transfected with E4orf6 expression vector (middle), and HeLa cells infected with Ad dl309 and Ad dl355 (right) were used. (C) pCMVGL-ARE, which has ARE of c-fos in 3′-UTR of luciferase cDNA (left), were transfected into 293 cells with or without E4orf6 expression construct, and then the accumulation of the cytoplasmic luciferase mRNA was analyzed by Northern blot 24 h after the transfection. The ...
The Frequency and Clinical Significance of Sister Chromatid Exchange in the Lymphocyte of Gastric Cancer Patient Exposed to Hypoxia
Posttranslational modifications play a key role in recruiting chromatin remodeling and modifying enzymes to specific regions of chromosomes to modulate chromatin structure. Alc1 (amplified in liver cancer 1), a member of the SNF2 ATPase superfamily with a carboxy-terminal macrodomain, is encoded by an oncogene implicated in the pathogenesis of hepatocellular carcinoma. Here we show that Alc1 interacts transiently with chromatin-associated proteins, including histones and the poly(ADP-ribose) polymerase Parp1. Alc1 ATPase and chromatin remodeling activities are strongly activated by Parp1 and its substrate NAD and require an intact macrodomain capable of binding poly(ADP-ribose). Alc1 is rapidly recruited to nucleosomes in vitro and to chromatin in cells when Parp1 catalyzes PAR synthesis. We propose that poly(ADP-ribosyl)ation of chromatin-associated Parp1 serves as a mechanism for targeting a SNF2 family remodeler to chromatin. ...
Caspase-7, a member of the ICE/Ced-3 subfamily, is an executioner caspase which undergoes proteolytic cleavage of its precursor to form active p12 and p20 subunits. Evidence that activation of Caspase-7 occurs during cell death induced by the cytokine death receptors Fas/APO-1 and the receptor of tumour necrosis factor (TNFR-1), coupled with the fact that granzyme-B activated Caspase-7 cleaves the nuclear enzyme poly (ADP-ribose) polymerase (PARP), suggests an important role for Caspase-7 in both cytokine-mediated and Granzyme-B mediated apoptosis pathways ...
(KudoZ) English to German translation of sister chromatid exchange: Schwesterchromatid-Austausch [alprostadil product characteristics - Medical: Pharmaceuticals (Medical)].
A protein encoded by a gene in band 22 of the long arm of human chromosome 21. The gene contains multiple exons which allow multiple mRNAs to be transcribed by alternative splicing (q.v.). The transcripts are differentially expressed in different substructures of the adult brain. The DSCAM is a member of the immunoglobulin domain superfamily (q.v.). These isoforms may be involved in the patterning of neural networks by selective adhesions between axons. See innate immunity. ...
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Function: Corrects defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents ...
Werner J. H. Koopman is the author of this article in the Journal of Visualized Experiments: Cellular Redox Profiling Using High-content Microscopy
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FDCS is a rare tumour with a spectrum of clinical behaviour. While some reports describe an indolent disease [4], others report higher rates of recurrence, metastases and mortality [5, 7]. There are a number of pathological features associated with a poorer prognosis, including size ≥6 cm, coagulative necrosis, high mitotic counts (≥5 per 10 high power field), significant cytologic atypia, younger age and abdominal involvement [5, 6, 15]. As molecular information becomes more readily available for this tumour type, it will also be important to determine its correlation with natural history and therapeutic significance.. This case report describes the use of a PARP inhibitor in combination with carboplatin in the treatment of a FDCS with a BRCA2 mutation. This is the first report of FDCS with a BRCA2 mutation and also the first report of the use of molecularly targeted therapy in this disease. BRCA2 is a tumour suppressor gene involved in deoxyribonucleic (DNA) repair via homologous ...
Aim of the study: To investigate the neuroprotective effect of aqueous extract of modified Wu-Zi-Yan-Zong granule (MWG), a traditional Chinese herbal medicine, against CoCl2-induced neurotoxicity in PC12 cells. Materials and methods: Cell viability assay, apoptosis rate assay, ROS detection and mitochondrial membrane potential (MMP) assay were performed. In addition, cytochrome c, caspase-3, PARP and MAPKs were also detected by Western blotting. Results: MWG extract increased viability and suppresses early and middle/late stage apoptosis in a dose-dependent manner in CoCl2-induced PC12 cells. Moreover, MWG extract decreased the level of intracellular reactive oxygen species (ROS), increased MMP, regulated Bcl-2 family protein expression (Bcl-2 and Bcl-XL) and inhibited the release of cytochrome c from the mitochondria. In addition, MWG extract attenuated activation of caspase-3 and poly ADP-ribose polymerase (PARP) and inhibited the phosphorylation of ERK, c-Jun NH2-terminal kinase (JNK) and p38 ...
Sister chromatid exchange (SCE) analysis is the most sensitive method for assessing chromosome damage induced by chemical mutagens. We report the SCE of peripheral blood lymphocytes in children with primary nephrotic syndrome (NS) treated with chlorambucil. Group I consisted of 20 normal children, group 2 of 14 children with primary NS who had never received a cytotoxic drug and group III of 7 children with primary NS who had received chlorambucil, which was discontinued 6-36 months prior to the study. Group IV consisted of 4 nephrotic children who were receiving chlorambucil therapy during the study. There was no significant increase in SCE in group III compared with group I or group II (P≫0.05). A significant rise in SCE (P|0.05) was seen in all patients in group IV.
0196]E1 achieved the second-best result for Δp with comparatively low mU/mtot. [0197]In the case of the oversize screen insert used, C was 6 mm and L was 14 mm. [0198]A detailed analysis of the results found gave rise to the following reasons with reference to FIGS. 13 to 16. [0199]FIG. 13 shows a schematic of an undamaged annular shaped catalyst body. FIGS. 14 and 15 show schematics of fracture lines which occur therein with elevated frequency in the preparation of the annular shaped catalyst bodies, and also fragments 1 and 2, and 3 and 4, which result in the case of fracture. FIG. 16 shows a schematic of a screen orifice (or outline thereof) from the top. [0200]In E1, in the fine particle screening, the fine fragments 2 and 4 were part of the material passing through the screen and the coarse fragments 1 and 3 were in the screen residue. [0201]In C1, in the fine particle screening, fragments 1 and 2 were part of the material passing through the screen, and fragments 3 and 4 were in the ...

Blooms syndrome - WiktionaryBloom's syndrome - Wiktionary

Retrieved from "https://en.wiktionary.org/w/index.php?title=Bloom%27s_syndrome&oldid=44720406" ... Bloom syndrome. Noun[edit]. Blooms syndrome. *(singular only) A particular genetic disease; its most apparent symptom is ...
more infohttps://en.wiktionary.org/wiki/Bloom%27s_syndrome

Immunodeficiency in Blooms Syndrome | SpringerLinkImmunodeficiency in Bloom's Syndrome | SpringerLink

Blooms syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLM gene. This gene codes for BLM protein, ... Immunological studies in Blooms syndrome. A follow-up report. Ann Genet. 1991;34(3-4):201-5.PubMedGoogle Scholar ... Immune responses in four patients with Bloom syndrome. Clin Immunol Immunopathol. 1979;12(1):12-9.CrossRefPubMedGoogle Scholar ... Stimulation of flap endonuclease-1 by the Blooms syndrome protein. J Biol Chem. 2004;279(11):9847-56.CrossRefPubMedGoogle ...
more infohttps://link.springer.com/article/10.1007/s10875-017-0454-y

Bloom syndrome - WikipediaBloom syndrome - Wikipedia

Bloom syndrome (often abbreviated as BS in literature), also known as Bloom-Torre-Machacek syndrome, is a rare autosomal ... People with Bloom Syndrome have a shortened life expectancy; the average life span is approximately 27 years. Bloom syndrome ... There is at least one person with Bloom syndrome who had five independent primary cancers. Persons with Bloom syndrome may ... However, several women with Bloom syndrome have had children. The most serious and common complication of Bloom syndrome is ...
more infohttps://en.wikipedia.org/wiki/Bloom_syndrome

Bloom syndrome protein - WikipediaBloom syndrome protein - Wikipedia

Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. The Bloom ... "Bloom syndrome". Genetics Home Reference. NIH. Retrieved 19 March 2013. De Muyt A, Jessop L, Kolar E, Sourirajan A, Chen J, ... Bloom syndrome protein has been shown to interact with: ATM, CHAF1A, CHEK1, FANCM, FEN1, H2AFX, MLH1 P53, RAD51L3, RAD51, RPA1 ... Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3 → 5 helicase activity. The normal ...
more infohttps://en.wikipedia.org/wiki/Bloom_syndrome_protein

Bloom syndromeBloom syndrome

... is an inherited genetic disease that causes small size at birth, short stature after birth, ... There is no treatment for the cause of Bloom syndrome. Support groups and counseling can be helpful for people with Bloom ... Diabetes and problems with fertility are more common in people with Bloom syndrome. Men are more likely to be infertile. People ... syndrome and for their families. Genetic testing is recommended to identify carriers of the disease and help guide decisions ...
more infohttps://www.johnstonhealth.org/fitness-health/library/document-viewer/?id=tv7890

Definition of Bloom syndrome - NCI Dictionary of Cancer Terms - National Cancer InstituteDefinition of Bloom syndrome - NCI Dictionary of Cancer Terms - National Cancer Institute

Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face ... Bloom syndrome is caused by changes in a protein that normally helps cells make copies of the DNA. Changes in this protein ...
more infohttps://www.cancer.gov/publications/dictionaries/cancer-terms/def/bloom-syndrome

Anti-Blooms Syndrome Protein Blm antibody (ab476) ProtocolsAnti-Blooms Syndrome Protein Blm antibody (ab476) Protocols

Abcam provides specific protocols for Anti-Blooms Syndrome Protein Blm antibody (ab476) : Western blot protocols, ...
more infohttp://www.abcam.com/blooms-syndrome-protein-blm-antibody-ab476-protocols.html

Blooms syndrome chromosomes - Stock Image C003/0948 - Science Photo LibraryBloom's syndrome chromosomes - Stock Image C003/0948 - Science Photo Library

This rare genetic disorder, also known as congenital telangiectatic erythema, leads to symptoms of Blooms syndrome, including ... Coloured light micrograph of human chromosomes from a lymphocyte blood cell in a patient with Blooms syndrome, showing sister ... Keywords: bloom, bloomss syndrome, chromosomal abnormality, chromosome breakage, colour, coloured, condition, congenital ... Caption: Coloured light micrograph of human chromosomes from a lymphocyte blood cell in a patient with Blooms syndrome, ...
more infohttp://www.sciencephoto.com/media/95181/view

Blooms syndrome chromosomes - Stock Image C003/0949 - Science Photo LibraryBloom's syndrome chromosomes - Stock Image C003/0949 - Science Photo Library

This rare genetic disorder, also known as congenital telangiectatic erythema, leads to symptoms of Blooms syndrome, including ... Light micrograph of human chromosomes from a lymphocyte blood cell in a patient with Blooms syndrome, showing sister chromatid ... Keywords: bloom, bloomss syndrome, chromosomal abnormality, chromosome breakage, condition, congenital telangiectatic erythema ... Caption: Light micrograph of human chromosomes from a lymphocyte blood cell in a patient with Blooms syndrome, showing sister ...
more infohttp://www.sciencephoto.com/media/95182/view

Blm - Bloom syndrome protein homolog - Mus musculus (Mouse) - Blm gene & proteinBlm - Bloom syndrome protein homolog - Mus musculus (Mouse) - Blm gene & protein

Bloom syndrome protein homologImported. ,p>Information which has been imported from another database using automatic procedures ... tr,E9PZ97,E9PZ97_MOUSE Bloom syndrome protein homolog OS=Mus musculus GN=Blm PE=1 SV=1 ...
more infohttp://www.uniprot.org/uniprot/E9PZ97

Bloom-syndrome protein | definition of Bloom-syndrome protein by Medical dictionaryBloom-syndrome protein | definition of Bloom-syndrome protein by Medical dictionary

What is Bloom-syndrome protein? Meaning of Bloom-syndrome protein medical term. What does Bloom-syndrome protein mean? ... Looking for online definition of Bloom-syndrome protein in the Medical Dictionary? Bloom-syndrome protein explanation free. ... Related to Bloom-syndrome protein: Wiskott-Aldrich syndrome, Cockayne syndrome, Fanconi syndrome, Werner syndrome ... Bloom-syndrome protein , definition of Bloom-syndrome protein by Medical dictionary https://medical-dictionary. ...
more infohttp://medical-dictionary.thefreedictionary.com/Bloom-syndrome+protein

Bloom syndrome | Radiology Reference Article | Radiopaedia.orgBloom syndrome | Radiology Reference Article | Radiopaedia.org

Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and ... Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and ... There is extreme chromosomal fragility observed in Bloom syndrome which is due to defect in DNA synthesis as a result of DNA ... Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood. Lippincott Williams & Wilkins. (2007) ISBN:0781779383 ...
more infohttps://radiopaedia.org/articles/bloom-syndrome

Growth deficiency and malnutrition in Bloom syndromeGrowth deficiency and malnutrition in Bloom syndrome

The mean body mass index for adults with Bloom syndrome after age 25 years is low normal (n = 22, mean = 20.2 kg/m2). ... More than half of children with Bloom syndrome are significantly wasted until age 8 years, which is not related to early death ... Children with Bloom syndrome have significant growth retardation and wasting. (J Pediatr 1999;134:472-9) ... Term birth measurements confirm that the growth deficiency of Bloom syndrome has prenatal onset. Stunting persists throughout ...
more infohttps://insights.ovid.com/jped/199904000/00005186-199904000-00015

Handbook of Genetic Counseling/Bloom Syndrome-1 - Wikibooks, open books for an open worldHandbook of Genetic Counseling/Bloom Syndrome-1 - Wikibooks, open books for an open world

Blooms Syndrome Registry. NY Blood Center. 310 East 67th Street. New York, NY 10021. Phone: (212) 570-3075. *National ... German, J. and Ellis, N. (2001). Bloom Syndrome. In Scriver, C., Beaudet, A., Sly, W., and Velle, D. ed. Metabolic and ... Handbook of Genetic Counseling/Bloom Syndrome-1. From Wikibooks, open books for an open world ... Retrieved from "https://en.wikibooks.org/w/index.php?title=Handbook_of_Genetic_Counseling/Bloom_Syndrome-1&oldid=3306884" ...
more infohttps://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Bloom_Syndrome-1

Blm - Bloom syndrome protein homolog - Drosophila melanogaster (Fruit fly) - Blm gene & proteinBlm - Bloom syndrome protein homolog - Drosophila melanogaster (Fruit fly) - Blm gene & protein

Bloom syndrome protein homologAdd BLAST. 1487. Amino acid modifications. Feature key. Position(s). DescriptionActions. ... Bloom syndrome protein homolog (EC:3.6.4.12*Search proteins in UniProtKB for this EC number. ... "Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70.". Kusano K., Johnson-Schlitz D.M., ... "Evolution of the RECQ family of helicases: a Drosophila homolog, Dmblm, is similar to the human Bloom syndrome gene.". Kusano K ...
more infohttps://www.uniprot.org/uniprot/Q9VGI8

Molecular anchor links the 2 inheritable diseases Fanconi anemia and Blooms syndrome | EurekAlert! Science NewsMolecular anchor links the 2 inheritable diseases Fanconi anemia and Bloom's syndrome | EurekAlert! Science News

Fanconi Anemia (FA) and Blooms Syndrome (BS) are unique rare genetic disorders that have some key characteristics in common. ... Molecular anchor links the 2 inheritable diseases Fanconi anemia and Blooms syndrome. Cell Press ... Molecular anchor links the 2 inheritable diseases Fanconi anemia and Blooms syndrome ...
more infohttps://www.eurekalert.org/pub_releases/2009-12/cp-mal121709.php

Blooms Syndrome Mutation Analysis - Medical Laboratory Tests - Seach, Database, InformationBloom's Syndrome Mutation Analysis - Medical Laboratory Tests - Seach, Database, Information

Information about Blooms Syndrome Mutation Analysis. Search our extensive database of medical/laboratory tests and review in- ... Blooms Syndrome Mutation Analysis. a.k.a. Ashkenazi Jewish., BSyn, Short Stature and Facial Telangiectasis, Ashkenazi Jewish, ... Congenital Telangiectatic Erythema, BLM, Dwarfism, Telangiectatic Erythema of the Face, Bloom-Torre-Machecek Syndrome, BS. ...
more infohttps://www.findacode.com/medical-lab-tests/medical-lab-test.html?name=Bloom%E2%80%99s%20Syndrome%20Mutation%20Analysis&id=559e27b0-2122-4b8c-9d3a-04bfae330c36

blm, Bloom syndrome, RecQ helicase-like - Creative Biogeneblm, Bloom syndrome, RecQ helicase-like - Creative Biogene

BLM; Bloom syndrome, RecQ helicase-like; Bloom syndrome; Bloom syndrome protein; BS; RECQ2; RECQL3; recQ protein-like 3; DNA ... The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ... Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3-5 helicase activity.The normal protein ... Bloom syndrome protein homolog; Gd BLM; BLM helicase; recQ helicase homolog ...
more infohttps://www.creative-biogene.com/symbolsearch_blm.html

Bloom syndrome: multiple retinopathies in a chromosome breakage disorder | British Journal of OphthalmologyBloom syndrome: multiple retinopathies in a chromosome breakage disorder | British Journal of Ophthalmology

Bloom syndrome. Bloom syndrome is a rare, autosomal recessive disease characterised by short stature, immunodeficiency, and a ... Bloom syndrome is an archetypal "chromosome breakage syndrome." A recessively inherited mutation in the BLM gene leads to an ... Ellis NA, Groden J, Ye TZ, et al. The Bloom syndrome gene product is homologous to RecQ helicases. Cell 1995;83:655-66. ... Blooms syndrome: Genetic and clinical observations in the first twenty-seven patients. Am J Hum Genet 1969;21:196-227. ...
more infohttp://bjo.bmj.com/content/88/3/354

Bloom Syndrome | MedicalRecords.comBloom Syndrome | MedicalRecords.com

Bloom syndrome is an inherited genetic disease that causes small size at birth, short stature after birth, redness of the skin ... There is no treatment for the cause of Bloom syndrome. Support groups and counseling can be helpful for people with Bloom ... Bloom syndrome is an inherited genetic disease that causes small size at birth, short stature after birth, redness of the skin ... Diabetes and problems with fertility are more common in people with Bloom syndrome. Men are more likely to be infertile. People ...
more infohttps://www.medicalrecords.com/health-a-to-z/bloom-syndrome-symptom

Bloom syndrome (BLM) polyclonal antibody - Allele BiotechBloom syndrome (BLM) polyclonal antibody - Allele Biotech

100 µg) BLM interacts with p53 in the regulation of transcription and is associated with Werner syndrome and colorectal cancer ...
more infohttp://www.allelebiotech.com/bloom-syndrome-blm-polyclonal-antibody/

Bloom syndrome (BLM) polyclonal antibody II - Allele BiotechBloom syndrome (BLM) polyclonal antibody II - Allele Biotech

100 µg) BLM interacts with p53 in the regulation of transcription and is associated with Werner syndrome and colorectal cancer ...
more infohttp://www.allelebiotech.com/bloom-syndrome-blm-polyclonal-antibody-ii/

The Bloom Syndrome Protein Limits the Lethality Associated with RAD51 Deficiency | Molecular Cancer ResearchThe Bloom Syndrome Protein Limits the Lethality Associated with RAD51 Deficiency | Molecular Cancer Research

Syndrome-causing mutations of the BLM gene in persons in the Blooms Syndrome Registry. Hum Mutat 2007;28:743-53. ... Blooms syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am J Hum Genet 1969;21:196-227. ... Blooms syndrome is caused by mutations in the BLM gene, which encodes BLM, a RecQ 3′-5′ DNA helicase (1). The hallmark of ... The Blooms syndrome helicase can promote the regression of a model replication fork. J Biol Chem 2006;281:22839-46. ...
more infohttp://mcr.aacrjournals.org/content/8/3/385

Bloom syndrome | definition of Bloom syndrome by Medical dictionaryBloom syndrome | definition of Bloom syndrome by Medical dictionary

Bloom syndrome explanation free. What is Bloom syndrome? Meaning of Bloom syndrome medical term. What does Bloom syndrome mean? ... Looking for online definition of Bloom syndrome in the Medical Dictionary? ... Bloom syndrome. (blo͞om) or Blooms syndrome. (blo͞omz). n.. A rare autosomal recessive condition characterized by small ... Bloom syndrome. Also found in: Dictionary, Acronyms, Wikipedia. Bloom syn·drome. (blōm), [MIM*210900] congenital telangiectatic ...
more infohttps://medical-dictionary.thefreedictionary.com/Bloom+syndrome

Bloom syndrome cells undergo p53-dependent apoptosis and delayed assembly of BRCA1 and NBS1 repair complexes at stalled...Bloom syndrome cells undergo p53-dependent apoptosis and delayed assembly of BRCA1 and NBS1 repair complexes at stalled...

Abbreviations used in this paper: BS, Bloom syndrome; BSF, Bloom syndrome fibroblast; HM, helicase mutant; HU, hydroxyurea; NHF ... Blooms syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am. J. Hum. Genet. 21:196-227. ... Bloom syndrome (BS) is a rare genetic disorder caused by inactivating mutations in BLM, a member of the RECQ helicase family ( ... Role of the Blooms syndrome helicase in maintenance of genome stability. Biochem. Soc. Trans. 29:201-204. ...
more infohttp://jcb.rupress.org/content/162/7/1197?ijkey=0eaf51da6087988c0640e60e6e015ce722023be4&keytype2=tf_ipsecsha
  • Longitudinal growth data from 148 patients in the Bloom's Syndrome Registry (85 male, 63 female) were compiled retrospectively from physician and parent records to develop graphed statistics of weight-for-age, height-for-age, fronto-occipital circumference-for-age, and weight-for-height for both sexes with comparisons with the normal population. (ovid.com)
  • Bloom syndrome (BSyn) should be suspected in an individual with any of the following clinical or cytogenetic findings. (cdc.gov)
  • There is no evidence that mental retardation is more common in Bloom syndrome than in other people. (wikipedia.org)
  • Clinical data were collected over 1 year of follow up, and ocular abnormalities in Bloom syndrome were reviewed from the literature. (bmj.com)
  • If you believe that you are suffering from any of the symptoms of Bloom Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. (medigest.uk)
  • There is at least one person with Bloom syndrome who had five independent primary cancers. (wikipedia.org)
  • Although the ocular manifestations of Bloom syndrome are myriad, they have remained incompletely described. (bmj.com)
  • To describe multiple retinal abnormalities in a patient with Bloom syndrome, including early macular drusen, diabetic retinopathy, and the onset of leukaemic retinopathy. (bmj.com)
  • To describe the growth and nutritional status of a pediatric population with Bloom syndrome. (ovid.com)
  • Children with Bloom syndrome have significant growth retardation and wasting. (ovid.com)
  • More than half of children with Bloom syndrome are significantly wasted until age 8 years, which is not related to early death or underlying malignancy. (ovid.com)
  • Rothmund-Thomson syndrome presents with skin and skeletal abnormalities and a high incidence of skin and bone neoplasms ( Vennos and James, 1995 ). (rupress.org)
  • The mean body mass index for adults with Bloom syndrome after age 25 years is low normal (n = 22, mean = 20.2 kg/m2). (ovid.com)
  • Adults with Bloom's syndrome should be more cautious and atentive than others in their surveillance for cancer. (medigest.uk)