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.
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.
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.
A characteristic symptom complex.
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.
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.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
A 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.
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.
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.
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.
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.
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.
A form-genus of CYANOBACTERIA in the order Chroococcales. Many species are planktonic and possess gas vacuoles.
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.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The 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.
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.
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.
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)
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)
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)
A Rec A recombinase found in eukaryotes. Rad51 is involved in DNA REPAIR of double-strand breaks.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
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).
The process by which a DNA molecule is duplicated.
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.
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.
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.
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.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
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.
An oligopeptide produced by various bacteria which acts as a protease inhibitor.
An antineoplastic agent that inhibits DNA synthesis through the inhibition of ribonucleoside diphosphate reductase.
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.
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).
Catalyze the joining of preformed ribonucleotides or deoxyribonucleotides in phosphodiester linkage during genetic processes. EC 6.5.1.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
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.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
A single-stranded DNA-binding protein that is found in EUKARYOTIC CELLS. It is required for DNA REPLICATION; DNA REPAIR; and GENETIC RECOMBINATION.
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)
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.
Inland bodies of still or slowly moving FRESH WATER or salt water, larger than a pond, and supplied by RIVERS and streams.
Established cell cultures that have the potential to propagate indefinitely.
An individual in which both alleles at a given locus are identical.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
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.
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.
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.
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).
An individual having different alleles at one or more loci regarding a specific character.
The magnitude of INBREEDING in humans.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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)
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.

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 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 ...
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|jats:title|Abstract|/jats:title||jats:p|The Bloom syndrome helicase BLM interacts with topoisomerase IIIα (TOP3A), RMI1 and RMI2 to form the BTR complex, which dissolves double Holliday junctions to produce non-crossover homologous recombination (HR) products. BLM also promotes DNA-end resection, restart of stalled replication forks, and processing of ultra-fine DNA bridges in mitosis. How these activities of the BTR complex are regulated in cells is still unclear. Here, we identify multiple conserved motifs within the BTR complex that interact cooperatively with the single-stranded DNA (ssDNA)-binding protein RPA. Furthermore, we demonstrate that RPA-binding is required for stable BLM recruitment to sites of DNA replication stress and for fork restart, but not for its roles in HR or mitosis. Our findings suggest a model in which the BTR complex contains the intrinsic ability to sense levels of RPA-ssDNA at replication forks, which controls BLM recruitment and activation in response to replication
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
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008 ...
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.
Humphrey, Duke of Gloucester, view Bloom Syndrome. reappear a up-to-date area usually in Stows London, are. Duke was written as standard Mr. Gloucester, Hereford, and Monmouth 1660-89; Col. Foot, 1660; of Horse, 1661.
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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…
This sequence change falls in intron 20 of the BLM gene. It does not directly change the encoded amino acid sequence of the BLM protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BLM-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance ...
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 ...
Global PARP (Poly ADP-Ribose Polymerase) Inhibitor Market Report: Industry Analysis & Outlook (2018-2025) about Global PARP Inhibitor Market.
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 ...
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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, ...
Part I: Principles of oncology. The cancer genome -- Hallmarks of cancer: an organizing principle for cancer medicine -- Molecular methods in cancer -- Part II: Etiology and epidemiology of cancer. Tobacco -- Oncogenic viruses -- Inflammation -- Chemical factors -- Physical factors -- Dietary factors -- Obesity and physical activity -- Section 2: Epidemiology of cancer. Epidemiologic methods -- Trends in United States cancer mortality -- Part III: Cancer therapeutics. Essentials of radiation therapy -- Cancer immunotherapy -- Pharmacokinetics and pharmacodynamics of anticancer drugs -- Pharmacogenomics -- Alkylating agents -- Platinum analogs -- Antimetabolites -- Topoisomerase interactive agents -- Antimicrotubule agents -- Kinase inhibitors as anticancer drugs -- Histone deacetylase inhibitors and demethylating agents -- Proteasome inhibitors -- Poly (ADP-ribose) polymerase inhibitors -- Miscellaneous chemotherapeutic agents -- Hormonal agents -- Antiangiogenesis agents -- Monoclonal ...
Bloom syndrome (BS) is an autosomal recessive disorder characterized by a high incidence of cancer and genomic instability. BLM, the protein defective in BS, is a RecQ-like helicase, presumed to function in DNA replication, recombination, or repair. BLM localizes to promyelocytic leukemia protein (PML) nuclear bodies and is expressed during late S and G2. We show, in normal human cells, that the recombination/repair proteins hRAD51 and replication protein (RP)-A assembled with BLM into a fraction of PML bodies during late S/G2. Biochemical experiments suggested that BLM resides in a nuclear matrix-bound complex in which association with hRAD51 may be direct. DNA-damaging agents that cause double strand breaks and a G2 delay induced BLM by a p53- and ataxia-telangiectasia mutated independent mechanism. This induction depended on the G2 delay, because it failed to occur when G2 was prevented or bypassed. It coincided with the appearance of foci containing BLM, PML, hRAD51 and RP-A, which resembled ...
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 - The role of poly(ADP-ribose) polymerase activation in the development of myocardial and endothelial dysfunction in diabetes. AU - Pacher, Pal. AU - Liaudet, Lucas. AU - Soriano, Francisco Garcia. AU - Mabley, Jon G.. AU - Szabó, Éva. AU - Szabó, Csaba. PY - 2002/1/1. Y1 - 2002/1/1. N2 - Patients with diabetes exhibit a high incidence of diabetic cardiomyopathy and vascular complications, which underlie the development of retinopathy, nephropathy, and neuropathy and increase the risk of hypertension, stroke, and myocardial infarction. There is emerging evidence that the activation of the nuclear enzyme poly(ADP-ribose) polymerase (PARP) importantly contributes to the development of endothelial dysfunction in a streptozotocin-induced model of diabetes. We investigated the role of PARP activation in the pathogenesis of cardiac dysfunction in streptozotocin-induced and genetic (nonobese diabetic) models of diabetes in rats and mice. Development of diabetes was accompanied by ...
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 ...
TY - JOUR. T1 - Evidence for BLM and Topoisomerase IIIα interaction in genomic stability. AU - Hu, Peng. AU - Beresten, Sergey F.. AU - Van Brabant, Anja. AU - Ye, Tian Zhang. AU - Pandolfi, Pier Paolo. AU - Johnson, F. Brad. AU - Guarente, Leonard. AU - Ellis, Nathan A.. PY - 2001/6/1. Y1 - 2001/6/1. N2 - The genomic instability of persons with Blooms syndrome (BS) features particularly an increased number of sister-chromatid exchanges (SCEs). The primary cause of the genomic instability is mutation at BLM, which encodes a DNA helicase of the RecQ family. BLM interacts with Topoisomerase IIIα (Topo IIIα), and both BLM and Topo IIIα localize to the nuclear organelles referred to as the promyelocytic leukemia protein (PML) nuclear bodies. In this study we show, by analysis of cells that express various deletion constructs of green fluorescent protein (GFP)-tagged BLM, that the first 133 amino acids of BLM are necessary and sufficient for interaction between Topo IIIα and BLM. The Topo ...
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
Inhibitors of poly[ADP-ribose] polymerase 1 (PARPis) display guarantee for treatment of malignancies which lack convenience of homologous recombination restoration (HRR). of tumor cells to ABT-888. Significantly, these medication mixtures didnt influence success of regular breasts and fibroblasts cells, and significantly improved the inhibition of xenograft tumor development in accordance with each drug only, without affecting the mice pounds or their kidney and liver function. Our results display that mix of vorinostat and ABT-888 may potentially prove helpful for treatment of tumor with innate level of resistance to PARPis because of active HRR equipment, while the mix of vorinostat and 6-TG may BAY 80-6946 manufacture potentially conquer innate or obtained level of resistance to PARPis because of supplementary or reversal BRCA mutations, to reduced PARP-1 level or even to increased manifestation of multiple medication resistant proteins. Significantly, drugs which boost phosphorylation of ...
Ovarian cancer is one of the most lethal gynecologic malignancies reported throughout the world. The initial, standard-of-care, adjuvant chemotherapy in epithelial ovarian cancer is usually a platinum drug, such as cisplatin or carboplatin, combined with a taxane. However, despite surgical removal of the tumor and initial high response rates to first-line chemotherapy, around 80% of women will develop cancer recurrence. Effective strategies, including chemotherapy and new research models, are necessary to improve the prognosis. The replication stress response (RSR) is characteristic of the development of tumors, including ovarian cancer. Hence, RSR pathway and DNA repair proteins have emerged as a new area for anticancer drug development. Although clinical trials have shown poly (ADP-ribose) polymerase inhibitors (PARPi) response rates of around 40% in women who carry a mutation in the BRCA1/2 genes, PARPi is responsible for tumor suppression, but not for complete tumor regression. Recent reports
Hypoxia, a hallmark feature of the tumor microenvironment, causes resistance to conventional chemotherapy, but was recently reported to synergize with poly(ADP-ribose) polymerase inhibitors (PARPis) in homologous recombination-proficient (HR-proficient) cells through suppression of HR. While this synergistic killing occurs under severe hypoxia (,0.5% oxygen), our study shows that moderate hypoxia (2% oxygen) instead promotes PARPi resistance in both HR-proficient and -deficient cancer cells. Mechanistically, we identify reduced ROS-induced DNA damage as the cause for the observed resistance. To determine the contribution of hypoxia to PARPi resistance in tumors, we used the hypoxic cytotoxin tirapazamine to selectively kill hypoxic tumor cells. We found that the selective elimination of hypoxic tumor cells led to a substantial antitumor response when used with PARPi compared with that in tumors treated with PARPi alone, without enhancing normal tissue toxicity. Since human breast cancers with ...
Background: This study evaluated safety, pharmacokinetics, and clinical activity of intravenous and oral rucaparib, a poly (ADP-ribose) polymerase inhibitor, combined with chemotherapy in patients with advanced solid tumours. Methods: Initially, patients received escalating doses of intravenous rucaparib combined with carboplatin, carboplatin/paclitaxel, cisplatin/pemetrexed, or epirubicin/cyclophosphamide. Subsequently, the study was amended to focus on oral rucaparib (once daily, days 1-14) combined with carboplatin (day 1) in 21-day cycles. Doselimiting toxicities (DLTs) were assessed in cycle 1 and safety in all cycles. Results: Eighty-five patients were enrolled (22 breast, 15 ovarian/peritoneal, 48 other primary cancers), with a median of three prior therapies (range, 1-7). Neutropenia (27.1%) and thrombocytopenia (18.8%) were the most common grade ≥3 toxicities across combinations and were DLTs with the oral rucaparib/carboplatin combination. Maximum tolerated dose for the combination was 240
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Supplementary MaterialsSupplementary figures legends 41419_2019_2178_MOESM1_ESM. pursuing primers: (Supplementary Fig. 3aCn) in G3BP1-lacking cells had been less than those in wild-type (WT) cells, whereas reconstitution of G3BP1 in to the initial G3BP1-lacking clone cell restored SeV- or poly (I:C)-induced transcription of these downstream genes (Supplementary Fig. 4aCn). Collectively, these data claim that G3BP1 is vital for the effective induction of antiviral replies against RNA infections and cytoplasmic poly (I:C). Open up in another windowpane Fig. 3 G3BP1-knockout suppresses SeV- and poly (I:C)-activated signaling.a Scarcity of G3BP1 in the KO clones was confirmed by immunoblotting with anti-G3BP1. The G3BP1-lacking HEK293T clones had been generated from the CRISPR-Cas9 technique. bCg G3BP1 KO inhibits SeV- or poly (I:C)-induced IFN- promoter, ISRE, and Nifty. G3BP1-lacking HEK293T cells (1??105) were transfected using the IFN- reporter, ISRE, and Nifty (0.1?g), and TK (0.02?g) for 24?h, ...
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)
Poly(ADP-ribose)polymerase (PARP-1)은 세포 핵 내에서 가장 많은 단백질 중의 하나로서 DNA가 손상되었을 때 그 활성이 나타나며 세포 사멸에 깊이 관여한다. PARP-1을 억제하면 세포 사멸 과정이 necrosis에서 apoptosis로 바뀌게 되어 주변 세포 조직에 손상을 유발하지 않으며 항암제 내성에 의한 부작용도 줄일 수 있게 된다. 전 세계적으로 DNA-binding drug을 이용한 항암 치료에 PARP-1 inhibitor를 병용 투여하거나 PARP-1 inhibitor를 단독으로 투여하여 암을 치료하는 방법이 널리 연구되고 있다. 본 연구에서는 2-phenylquinazolin-4(3H)-one 핵을 가진 화합물로서 PARP-1을 억제하여 단독으로 항암 치료에 쓰일 수 있는 약물을 개발하고자 하였다. 2-(4-(4-(substituted)-sulfonyl)piperazine-1-carbonyl)phenyl)quinazolin-4(3H)-one (5-1~5-22)과 benzamide N에 치환체를 붙인 물질 6-1, 6-2, 7-1, 7-2, 8-1 및 8-2를 합성하였다. 합성한 ...
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).
高い抗原親和性、特異性と安定した品質を兼ね備えたアブカムのウサギ・モノクローナル抗体 RabMAb® ab247955 交差種: Hu 適用: WB
What is your opinion on the black lives matter protests that have been going on throughout the US I personally think that they should not be blocking up the roads and be as violent as they are but the goal I do approve of and it should have
先週の土日は、NHKさんとJR九州さんとの共同スペシャル企画列車、『BSデジタル号』に乗って九州を一周しました。特注の『BSデジタル号』のヘッドマークをつけてブルートレイン3両が復活、中でも、熊本→人吉は『SL人吉』クンが牽引するという夢のようなコラボレーションが実現するのですこれは何としてでも乗らねばっ しかし、一般客の定員は46名と狭き門・・お盆休みに出雲大社に参拝したご利益があったのでしょうか、お盆…
Bloom syndrome[edit]. Main article: Bloom syndrome. Bloom syndrome (BS) is a very rare autosomal recessive disorder.[21] ... Some segmental progeroid syndromes, such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndromes (RTS) and ... Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), ... RECQL3/BLM and RECQL4 lead to Werner syndrome (WS), Bloom syndrome (BS), and Rothmund-Thomson syndrome (RTS), respectively.[4][ ...
"Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American Journal of Human ... Fearon ER (November 1997). "Human cancer syndromes: clues to the origin and nature of cancer". Science. 278 (5340): 1043-50. ... Main article: Cancer syndrome. The vast majority of cancers are non-hereditary (sporadic). Hereditary cancers are primarily ... However, such germline mutations (which cause highly penetrant cancer syndromes) are the cause of only about 1 percent of ...
"Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American Journal of Human ... known as Li-Fraumeni syndrome. Other inherited tumor suppressor gene syndromes include Rb mutations, linked to retinoblastoma, ... Fearon ER (November 1997). "Human cancer syndromes: clues to the origin and nature of cancer". Science. 278 (5340): 1043-50. ... For instance, individuals that are heterozygous for p53 mutations are often victims of Li-Fraumeni syndrome, and that are ...
Bloom syndrome BLM (helicase) HRR [53] leukemia, lymphoma, colon, breast, skin, lung, auditory canal, tongue, esophagus, ... "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". Am. J. Hum. Genet. 21 (2): 196- ... Werner syndrome helicase Homologous recombination,[28][29] Non-homologous end joining,[30]Base excision repair,[31][32] ... Lu L, Jin W, Wang LL (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev. 33: 30 ...
"Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American Journal of Human ... known as paraneoplastic syndromes. Common paraneoplastic syndromes include hypercalcemia which can cause altered mental state, ... Fearon ER (November 1997). "Human cancer syndromes: clues to the origin and nature of cancer". Science. 278 (5340): 1043-50. ... Main article: Cancer syndrome. The vast majority of cancers are non-hereditary (sporadic). Hereditary cancers are primarily ...
Bloom's syndrome. XX. The first 100 cancers. „Cancer Genet Cytogenet". 93 (1), s. 100-6, Jan 1997. PMID: 9062585. ... Excess of rare cancers in Werner syndrome (adult progeria). „Cancer Epidemiol Biomarkers Prev". 5 (4), s. 239-46, Apr 1996. ...
German J (March 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American ... known as paraneoplastic syndromes. Common paraneoplastic syndromes include hypercalcemia which can cause altered mental state, ... 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 ...
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. ...
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 ...
another example of mitotic recombination is the Bloom's syndrome, which happens due to the mutation in the blm gene. The ... p282 Sanz, Maureen M.; German, James; Cunniff, Christopher (11 March 1993). "Bloom's Syndrome". In Adam, Margaret P.; Ardinger ... The only non-lethal full monosomy occurring in humans is the one causing Turner's syndrome. Around 30% of Turner's syndrome ... An example of this is one of the milder forms of Klinefelter syndrome, called 46,XY/47,XXY mosaic wherein some of the patient's ...
Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies. „Cancer Genet Cytogenet". 128 (1), s. 39-42, Jul ... Shwachman-diamond syndrome. „Br J Haematol". 118 (3), s. 701-13, Sep 2002. PMID: 12181037. ... Pathogenesis of myelodysplastic syndromes: an overview of molecular and non-molecular aspects of the disease. „Blood Res". 49 ( ... A novel syndrome of radiation-associated acute myeloid leukemia involving AML1 gene translocations. „Blood". 95 (12), s. 4011-3 ...
WRN gene in Werner syndrome (WS), BLM gene in Bloom syndrome (BS), and RECQL4 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 ...
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 ...
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 ...
"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).[citation needed] Similarly, at least 12 DNA repair genes have frequently been found to be ... "Werner syndrome protein interacts with human flap endonuclease 1 and stimulates its cleavage activity". EMBO J. 20 (20): 5791- ...
In Bloom syndrome, those afflicted most often die of cancer. Aging (senescence) increases vulnerability to age-associated ... Bloom, George S. (2014-04-01). "Amyloid-β and Tau: The Trigger and Bullet in Alzheimer Disease Pathogenesis". JAMA Neurology. ... 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, ...
"A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome". Molecular and Cellular Biology. 23 (10): 3417-26. ...
Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". ... May 2003). "A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome". Molecular and Cellular Biology. 23 (10 ... and sequesters another DNA repair complex called the Bloom Syndrome complex away from FANCM. As with FANCM depletion, this ...
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 ...
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. Hypomorphs, after Mullerian ... McKusick VA (July 1991). "The defect in Marfan syndrome". Nature. 352 (6333): 279-81. Bibcode:1991Natur.352..279M. doi:10.1038/ ... Judge DP, Dietz HC (December 2005). "Marfan's syndrome". Lancet. 366 (9501): 1965-76. doi:10.1016/S0140-6736(05)67789-6. PMC ...
These include: Turner syndrome, Klinefelter's syndrome, Cystic fibrosis, and Bloom syndrome. Sexual Reproduction in Humans. ...
Examples of such genetic disorders include xeroderma pigmentosum and Bloom syndrome. Balding: AKs are commonly found on the ...
2003). "A Multiprotein Nuclear Complex Connects Fanconi Anemia and Bloom Syndrome". Mol. Cell. Biol. 23 (10): 3417-26. doi: ...
The enzyme is thought to play a role in Bloom's syndrome. It has been proposed that Bloom's syndrome involves the induction of ... Karow JK, Constantinou A, Li JL, West SC, Hickson ID (June 2000). "The Bloom's syndrome gene product promotes branch migration ...
Bloom syndrome (homozygous null mutation in BLM DNA repair enzyme. similar mechanism and etiology to ataxia telangiectasia) ... Osler-Weber-Rendu syndrome) Ataxia-telangiectasia Sturge-Weber syndrome, a nevus formation in the skin supplied by the ... are one of the features of the acronymically named CREST syndrome, a form of systemic scleroderma. The syndrome recognises the ... Naevus flammeus (port-wine stain) Klippel-Trenaunay syndrome Maffucci syndrome (multiple enchondromas and hemangiomas) ...
SCE is elevated in pathologies including Bloom syndrome, having recombination rates ~10-100 times above normal, depending on ... "Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome". Proc Natl Acad Sci U S A. 86 (2): 670-4 ... "Increased rate of spontaneous mitotic recombination in T lymphocytes from a Bloom's syndrome patient using a flow-cytometric ...
One of these helicases, the Bloom syndrome protein, contains an arginine finger which assists in its hydrolysis of ATP. In ... the arginine finger of the Bloom syndrome protein is Arg982. The RecQ helicase, along with most proteins containing arginine ... "The arginine finger of the Bloom syndrome protein: its structural organization and its role in energy coupling". Nucleic Acids ...
His doctoral dissertation was entitled "Bloom syndrome as a human mutator mutation". He published 12 manuscripts during his ... Warren's postdoctoral studies were focused on human molecular genetics and he first began his studies on fragile X syndrome. He ... His research has been focused on the mechanistic understanding of fragile X syndrome, a leading cause of inherited ... that isolated the FMR1 gene responsible for fragile X syndrome in 1991. The cloning of this locus also uncovered, for the first ...
Barnes, P.M.; Bloom, B.; Nahin, R.L. (2008). "Complementary and alternative medicine use among adults and children: United ... Leaky gut syndrome. *Multiple chemical sensitivity. *Wilson's temperature syndrome. *Wind turbine syndrome ...
Bloom J. S.; Ehrenreich I. M.; Loo W. T.; Lite T.-L. V.; Kruglyak L. (2013). "Finding the sources of missing heritability in a ... A disease or syndrome may also be the result of the expression of mutant alleles at more than one locus. When more than one ...
Elaine Bloom; Colleen Kimble. "New York hunters discover some unusual gundog breeds" (PDF). Dec.ny.gov. Archived (PDF) from the ... "Small Dog Syndrome - Who's Your Pack Leader?". Natural-Wonder-Pets.com. Retrieved 24 May 2019.. ... "6 Snippy Signs Your Dog Has Small Dog Syndrome". The Honest Kitchen Blog. 12 February 2015. Retrieved 24 May 2019.. ...
Bentur, Y.; Bloom-Krasik, A.; Raikhlin-Eisenkraft, B. (2008). "Illicit cathinone ("Hagigat") poisoning". Clinical Toxicology. ... stroke following acute coronary syndrome (clogging of the artery)[note 1][7]:12[29] ...
Bloom syndrome protein,[73]. *DMC1,[74]. *RAD54,[75]. *P53[59][76][77] ...
Several missions on the Aquarius have been canceled due to hurricane activity. During Hurricane Gordon in 1994, a crew of scientists and divers had to evacuate Aquarius and climb up a rescue line to the surface in 15-foot seas after one of the habitat's generators caught fire.[9][10] In 1998, Hurricane Georges nearly destroyed Aquarius, breaking a joint in one of its legs and moving two 8000-pound weights on the wet porch nearly off the structure. Both Hurricane Georges and Hurricane Mitch, later in 1998, also destroyed way stations outside Aquarius used to refill aquanauts' scuba tanks.[9] In 2005, Hurricane Rita broke two of the habitat's seabed anchors and moved one end of Aquarius by twelve feet.[9][11] In 2017 Hurricane Irma ripped the habitat's 94,000 pound life support buoy from its moorings and blew it 14 miles away to the Lignum Vitae Channel, as well as damaging the underwater living quarters and 'wet porch' area.[12] As of 2008[update], no scientists or staff members had been injured ...
Locked-in syndrome. *Mind. *Mind-body problem. *Minimally conscious state. *Neural correlates of consciousness ...
Add to that the rigid physical examination each must undergo four times every year, and you are assured of the bloom that goes ... Gaëtan Dugas, alleged Patient Zero for acquired immune deficiency syndrome. *Ruth Carol Taylor, first verified African-American ...
Bloom D (2011). The Global Economic Burden of Noncommunicable Diseases (PDF). World Economic Forum. p. 24. Archived (PDF) from ... Caplan's syndrome. Chalicosis. Coalworker's pneumoconiosis. Siderosis. Silicosis. Talcosis. Byssinosis. Hypersensitivity ... George L. Waldbott, an American allergist, first described a new disease he named "smoker's respiratory syndrome" in the 1953 ... long QT syndrome).[150] Methylxanthines such as theophylline generally cause more harm than benefit and thus are usually not ...
... ataxia-like syndrome, Nijmegen breakage syndrome, Bloom syndrome DiGeorge syndrome (when associated with thymic defects) ... Hyper-IgD syndrome (HIDS) CIAS1-related diseases: Muckle-Wells syndrome Familial cold autoinflammatory syndrome Neonatal onset ... Schimke syndrome Hermansky-Pudlak syndrome type 2 Hyper-IgE syndrome Chronic mucocutaneous candidiasis Hepatic venoocclusive ... Immunodeficiency with hypopigmentation or albinism: Chédiak-Higashi syndrome, Griscelli syndrome type 2 Familial hemophagocytic ...
another example of mitotic recombination is the Bloom's syndrome which happens due to the mutation in the blm gene. The ... An example of this is one of the milder forms of Klinefelter syndrome, called 46/47 XY/XXY mosaic wherein some of the patient's ... Around 30% of Turner's syndrome cases demonstrate mosaicism, while complete monosomy (45, X) occurs in about 50-60% of cases. ...
Bloom, E.D.; Bonamente, E.; Borgland, A. W.; Bottacini, E.; Brandt, T. J.; Bregeon, J.; Brigida, M.; Bruel, P.; Buehler, R.; ...
Nussbaum, J. M.; Seward, M. E.; Bloom, G. S. (2013). "Alzheimer disease: A tale of two prions". Prion 7 (1): 14-9. doi:10.4161/ ... "Amyloid plaque core protein in Alzheimer disease and Down syndrome". Proc. Natl. Acad. Sci. U.S.A. 82 (12): 4245-9. Bibcode ...
Bloom CM, Langer B, Wilson SR (1999). "Role of US in the detection, characterization, and staging of cholangiocarcinoma". ... Congenital liver abnormalities, such as Caroli's syndrome (a specific type of five recognized choledochal cysts), have been ... The rare inherited disorders Lynch syndrome II and biliary papillomatosis have also been found to be associated with ...
WAGR syndrome. Sanggunian[baguhin , baguhin ang batayan]. *↑ Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd ... C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, ...
In May 2009, Smith was aboard Aquarius to train U.S. Navy divers in saturation diving and prepare for upcoming scientific studies in the Conch Reef area.[3] On May 5, 2009, Smith was assisting two Navy divers, Bill Dodd and Corey Seymour, who were 300 feet from Aquarius using an underwater jackhammer to install a way station that would contain breathable air. Smith informed Dodd and Seymour that he was returning to Aquarius but would be back. Five or ten minutes later, Seymour noticed that Smith was lying on his side in the water, his mouthpiece out of his mouth. Seymour began carrying Smith back to Aquarius, but his air umbilical became fouled about thirty yards from the habitat. Dodd carried Smith the rest of the distance to Aquarius, where the other divers in the habitat helped them get Smith inside. Resuscitation attempts by Dodd, Seymour, and two Navy physicians who dove to the habitat were unsuccessful. Smith was pronounced dead at 3:25 pm by a Navy doctor. His death was the first ...
McDonough, K.; Kress, Y.; Bloom, B. R. (July 1993). "Pathogenesis of tuberculosis: interaction of Mycobacterium tuberculosis ... Postorgasmic illness syndrome. *Reactive arthritis. GVHD. *Transfusion-associated graft versus host disease ...
The development of the OpenROV submarine was in part fueled by the legend that stolen gold is hidden in the deep waters of the Hall City Cave located near Hayfork in Trinity County, Northern California. According to the legend, a few renegade Native Americans stole ~100 pounds of gold nuggets from miners in the 1800s, but were chased. To escape from the pursuit, the renegades had to bury the nuggets in deep waters of the nearby Hall City Cave to lighten their load, but could not retrieve the gold, because they were soon caught and hanged. Even though many have tried to find the gold, nobody has been able to get to the bottom of the narrow and deep well of the cave.[2][10] Some of the OpenROV testing has taken place at that cave.[1][7] However, there appears to be no newspaper reports of this particular ambush and murders, though there is a report of two miners being murdered and the gold being buried on one of the river flats of the upper Trinity River.[11] ...
The China Syndrome (1979). *Urban Cowboy (1980). *Mike's Murder (1984). *Perfect (1985) ...
Several genetic syndrome also carry increased risk of ALL. These include: Down syndrome, Fanconi anemia, Bloom syndrome, X- ... Certain genetic syndromes, like Down Syndrome, have the same effect. Environmental risk factors are also needed to help create ... In most cases, the cause is unknown.[2] Genetic risk factors may include Down syndrome, Li-Fraumeni syndrome, or ... Identical twin with ALL, Down syndrome, Fanconi anemia, ataxia telangiectasia, Klinefelter syndrome, high birth weight, ...
A flower, sometimes known as a bloom or blossom, is the reproductive structure found in flowering plants (plants of the ... Further information: Pollination syndrome. Flowering plants usually face selective pressure to optimize the transfer of their ... Instead the allergen is usually the pollen of the contemporary bloom of anemophilous ragweed (Ambrosia), which can drift for ... In modern times, people have sought ways to cultivate, buy, wear, or otherwise be around flowers and blooming plants, partly ...
Immersion foot syndromes Trench foot. Tropical immersion foot. Warm water immersion foot. Chilblains. Frostbite. Aerosol burn. ... UV-sensitive syndrome. .mw-parser-output .nobold{font-weight:normal}. environmental skin conditions. Electrical burn. ...
In respiratory distress syndrome or RDS surfactant replacement therapy helps patients have normal respiration by using ...
Wynne, K; Stanley, S; Bloom, S (2004). "The gut and regulation of body weight". J Clin Endocrinol Metab. 89: 2576-82. doi: ... Abnormal appetite may also be linked to genetics on a chromosomal scale, shown by the 1950s discovery of Prader-Willi syndrome ... Suzuki, K; Jayasena, CN; Bloom, SR (2011). "The Gut Hormones in Appetite Regulation". Journal of Obesity. 2011: 1-10. doi: ... Suzuki, K; Jayasena, CN; Bloom, SR (2011). "The Gut Hormones in Appetite Regulation". Journal of Obesity. 2011: 1-10. doi: ...
Salt water aspiration syndrome. *Swimming-induced pulmonary edema. *List of signs and symptoms of diving disorders ...
Immersion foot syndromes Trench foot. Tropical immersion foot. Warm water immersion foot. Chilblains. Frostbite. Aerosol burn. ... Acute respiratory distress syndrome. *Carbon monoxide inhalation, such as that from a car exhaust and the smoke's emission from ... UV-sensitive syndrome. .mw-parser-output .nobold{font-weight:normal}. environmental skin conditions. Electrical burn. ... Congenital central hypoventilation syndrome, or primary alveolar hypoventilation, a disorder of the autonomic nervous system in ...
The USOA both operates and participates in the following awards and recognition schemes. It honours its own athletes with the Man & Woman Athlete of the Year being awarded for each sport and with all sports national champions being inducted in the All American Dive Team. There are also two underwater hockey sportsmanship awards - the Dan Wilkins Memorial Award for the National Championships and the Carl Judd Memorial Award for the Pacific Coast Championships.[1] The USOA was the original supporter of the NOGI Award which is presumably named after the New Orleans Grand Isle Fishing Tournament which included an underwater section and was created during the 1950s to recognise leaders in all forms of underwater diving. The NOGI awards scheme is now the responsibility of the Academy of Underwater Arts and Sciences.[11] In the tradition of the NOGI award, the USOA also recognizes divers within the United States at the regional level with The Regional Divers of the Year Award in the categories of art, ...
The high nutrient content can lead to eutrophication (hypertrophication), the growth of bacterial or algal blooms.[8] ... Molds that grow when air reaches cured silage can cause organic dust toxic syndrome. Collapsing silage from large bunker silos ...
... orchard or greenhouse at bloom time.[124]:240-243 Another solution, as shown in Delaware, has been to raise native plants to ... that differentially attract one type of pollinator or another are known as pollination syndromes. These arose through complex ...
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 ...
... and a greatly increased risk of cancer.People with Bloom syndrome are usually smaller than 97 percent of the population in both ... Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, ... medlineplus.gov/genetics/condition/bloom-syndrome/ Bloom syndrome. ... Syndrome-causing mutations of the BLM gene in persons in the Blooms Syndrome Registry. Hum Mutat. 2007 Aug;28(8):743-53. ...
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 ...
Bloom syndrome (congenital telangiectatic erythema) is caused by a mutation in both alleles of the gene designated BLM, traced ... Weill Cornell Medical College, Blooms Syndrome Registry. A Concise Clinical Description of Blooms Syndrome. Available at http ... Bloom Syndrome (Congenital Telangiectatic Erythema) Q&A What is the pathophysiology of Bloom syndrome (congenital ... Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic ...
Editor approved websites about Bloom Syndrome. Conveniently organized. Healthcare information from the top websites about ... Top / Health / Conditions and Illness / Skin Disorders / Bloom Syndrome Bloom syndrome or Bloom-Torre-Machacek syndrome is an ... The Bloom Syndrome Foundation Aims to fund research activities that lead to the development of a therapy for Bloom Syndrome. ... Blooms Syndrome Foundation Organization that provides funding for research aimed at the development of a therapy for Blooms ...
Bloom Syndrome. by Long Le. Bloom syndrome is a rare autosomal recessive genetic disease that features an elevated rate of ... There are less than 200 hundred cases of bloom syndrome that have been reported. Bloom syndrome could be underdiagnosed in some ... Expression of Bloom syndrome is not an all or nothing event. Environmental agents like UV light would affect people with light ... Bloom Syndrome and Maternal Uniparental Disomy for Chromosome 15. American Journal of Human Genetics 55:74-80, 1994.. Return ...
This is the fourth reported case of Wilms tumor occurring in a child with Bloom syndrome. This possibility requires repeated ... Wilms tumor and Bloom syndrome] Arch Pediatr. 1996 Aug;3(8):802-5. doi: 10.1016/0929-693x(96)82165-8. ... Bloom syndrome is characterized by growth failure, skin anomalies with sun sensitivity, minor anatomic defects, excessive ... Case report: Morgan, a 4-year-old boy with Bloom syndrome, developed a Wilms tumor. Chemotherapy was poorly tolerated. Two ...
Bloom syndrome has also appeared in the older literature as Bloom-Torre-Machacek syndrome. The most prominent feature of Bloom ... There is at least one person with Bloom syndrome who had five independent primary cancers. Persons with Bloom syndrome may ... The most serious and frequent complication of Bloom syndrome is cancer. In the 281 persons followed by the Bloom Syndrome ... several women with Bloom syndrome have had children, and there is a single report of a male with Bloom syndrome bearing ...
Home / For Patients and Families / Find a Patient Organization / Blooms Syndrome Association, Inc. ... Blooms Syndrome Association, Inc.. Address. PO Box 727. Hanover, NH 03755-0727 ...
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 ...
Ready, Set, Bloom, LLC. November 12, 2019 Ready, Set, Bloom, LLC. Ready, Set, Bloom, LLC The Nickel Bed Tents are designed to ... The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through ... Address Angelman Syndrome Foundation. 3015 E. New York Street. Suite A2 #285. Aurora, IL 60504 Phone800.432.6435 [email protected] ... Copyright © 2021 Angelman Syndrome Foundation. ALL Rights Reserved. , Site design: BRAND INSPIRATION, LLC ...
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 ...
It was first described in 1954 by David Bloom in a series of patients with telangiectatic erythema on the face and dwarfism. ... Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder. ... encoded search term (Bloom Syndrome (Congenital Telangiectatic Erythema)) and Bloom Syndrome (Congenital Telangiectatic ... Weill Cornell Medical College, Blooms Syndrome Registry. A Concise Clinical Description of Blooms Syndrome. Available at http ...
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 ...
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 ...
Men with Bloom syndrome are sterile.. Testing[edit]. *Chromosome analysis is typically done to detect Bloom syndrome. Most ... Bloom Syndrome (Also known as Bloom-Torre-Mackacek syndrome, BS, Levis Type Dwarfism, Short Stature and Facial Telangiectasis ... Blooms Syndrome Registry. NY Blood Center. 310 East 67th Street. New York, NY 10021. Telephone 212-570-3075. *National ... Bloom syndrome is an incredibly rare disorder, with approximately 140 cases having been reported. It affects males slightly ...
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" ...
... persons with the very rare disorder Blooms syndrome (BS) have been followed clinically, documenting clinical matters as ... Biological Significance of the Blooms Syndrome Protein. Trial Phase:. N/A. Minimum Age:. 2 Years. Maximum Age:. 55 Years ... accessioned to The Blooms Syndrome Registry. 2. the family has at least one affected member with BS. ... Biological Significance of the Blooms Syndrome Protein. Although an occasional person with BS will be admitted to the hospital ...
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 ...
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, ...
... papers in the October 15th issue of G&D detail the discovery of a previously unidentified fourth component of the Blooms ... New insight into Blooms syndrome. Two independent papers in the October 15th issue of G&D detail the discovery of a previously ... unidentified fourth component of the Blooms syndrome complex. Blooms syndrome is an inherited cancer predisposition disease, ... The BLM gene encodes for one part of a multi-enzyme Blooms syndrome complex (called BTB) that facilitates DNA repair, and ...
Biological Significance of the Blooms Syndrome Protein. The safety and scientific validity of this study is the responsibility ...
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. ...
Abcam provides specific protocols for Anti-Blooms Syndrome Protein Blm antibody (ab476) : Western blot protocols, ...
Share this Story: Artist with Down syndrome written off as incapable blooms in the Downtown Eastside. *. Copy Link ... Share this Story: Artist with Down syndrome written off as incapable blooms in the Downtown Eastside. *. Copy Link ... Share this Story: Artist with Down syndrome written off as incapable blooms in the Downtown Eastside. *. Copy Link ... Artist with Down syndrome written off as incapable blooms in the Downtown Eastside Back to video. ...
... 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 ...
Blooms syndrome cell lines show hyperrecombination. Blooms and Werners syndrome cell lines both exhibit chromosomal ... SGS1, a Homologue of the Blooms and Werners Syndrome Genes, Is Required for Maintenance of Genome Stability in Saccharomyces ... SGS1, a Homologue of the Blooms and Werners Syndrome Genes, Is Required for Maintenance of Genome Stability in Saccharomyces ... SGS1, a Homologue of the Blooms and Werners Syndrome Genes, Is Required for Maintenance of Genome Stability in Saccharomyces ...
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 ...
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 ...
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. ...
  • Crystal structure of the Bloom syndrome helicase BLM in complex with DNA (PDB ID: 4CGZ). (medscape.com)
  • The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. (wikipedia.org)
  • Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3' → 5' helicase activity. (wikipedia.org)
  • the BLM gene encodes a RecQ DNA helicase important for DNA repair, defects of which give rise to this "chromosome breakage syndrome. (bmj.com)
  • Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3-5 helicase activity.The normal protein may act to suppress inappropriate recombination. (creative-biogene.com)
  • Bloom's syndrome is caused by mutations in the BLM gene, which encodes BLM, a RecQ 3′-5′ DNA helicase ( 1 ). (aacrjournals.org)
  • BLM mutation results in a deficiency of Bloom helicase, leading to mitotic hyper crossover and chromosomal instability. (thefreedictionary.com)
  • Bloom syndrome helicase (BLM) has key roles in homologous recombination repair, telomere maintenance, and DNA replication. (nottingham.ac.uk)
  • The DNA helicase family contains a BLM gene, the onewhich triggers the Bloom's syndrome once it gets mutated. (steadyhealth.com)
  • BLM (Bloom Syndrome RecQ Like Helicase) is a Protein Coding gene. (genecards.org)
  • BLM, the helicase mutated in Bloom syndrome, associates with topoisomerase 3α, RMI1 (RecQ-mediated genome instability), and RPA, to form a complex essential for the maintenance of genome stability. (umn.edu)
  • Bloom's syndrome (BS) is an autosomal-recessive human disorder caused by mutations in the BS RecQ helicase and is associated with loss of genomic integrity and an increased incidence of cancer. (dundee.ac.uk)
  • The Bloom syndrome helicase BLM interacts with topoisomerase IIIα (TOP3A), RMI1 and RMI2 to form the BTR complex, which dissolves double Holliday junctions to produce non-crossover homologous recombination (HR) products. (ox.ac.uk)
  • BLM, the helicase defective in Bloom syndrome, is part of a multiprotein complex that protects genome stability. (researchwithrutgers.com)
  • Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D). (ox.ac.uk)
  • What is the pathophysiology of Bloom syndrome (congenital telangiectatic erythema)? (medscape.com)
  • Bloom syndrome (congenital telangiectatic erythema) is caused by a mutation in both alleles of the gene designated BLM, traced to band 15q26.1. (medscape.com)
  • This rare genetic disorder, also known as congenital telangiectatic erythema, leads to symptoms of Bloom's syndrome, including small body size and dilated blood vessels (redness of skin on the face). (sciencephoto.com)
  • Bloom syndrome - congenital telangiectatic erythema and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull. (thefreedictionary.com)
  • It is also referred to as Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema. (yourdna.com)
  • Mutations in the BLM gene cause Bloom syndrome. (medlineplus.gov)
  • Bloom's syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLM gene. (springer.com)
  • Bloom's syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLM gene located at 15q26. (springer.com)
  • Over 60 mutations of the BLM gene have been found in Bloom syndrome. (medscape.com)
  • Bloom syndrome or Bloom-Torre-Machacek syndrome is an autosomal recessive condition brought about by several mutations in the gene for BLM protein. (botw.org)
  • Mutations in other members of this family, namely WRN and RECQL4, are associated with the clinical entities Werner syndrome and Rothmund-Thomson syndrome, respectively. (wikipedia.org)
  • There is a closely related entity that is now referred to as Bloom-syndrome-like disorder (BSLD) which is caused by mutations in components of the same protein complex to which the BLM gene product belongs, including TOP3A, which encodes the type I topoisomerase, topoisomerase 3 alpha, RMI1, and RMI2. (wikipedia.org)
  • Increased levels of locus-specific mutations within the BLM result in development of Bloom Syndrome and patients are found to be immune deficient. (nepjol.info)
  • 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. (nottingham.ac.uk)
  • One of the main causes of progeroid syndromes is genetic mutations , which lead to defects in the cellular processes which repair DNA . (wikipedia.org)
  • Overall, more than 70 BLM gene mutations have been identified in people with Bloom syndrome. (yourdna.com)
  • Distribution of mismatch-repair mutations in Lynch syndrome. (picsearch.com)
  • Bloom syndrome is a rare, autosomal recessive, chromosomal instability disorder caused by mutations in the BLM gene that increase the risk of developing neoplasias, particularly lymphomas and leukemias, at an early age. (biomedcentral.com)
  • Bloom syndrome is a very rare autosomal recessive genetic disease that stems from mutations in genes responsible for DNA repair. (symptoma.com)
  • The diagnosis rests on clinical criteria and molecular genetic studies that confirm mutations responsible for this syndrome. (symptoma.com)
  • Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. (medscape.com)
  • The blm gene for Bloom syndrome was mapped to chromosome 15q26.1. (umich.edu)
  • Chromosome analysis is typically done to detect Bloom syndrome. (wikibooks.org)
  • A 39 year old man with a rare autosomal recessive "chromosome breakage" syndrome was followed. (bmj.com)
  • Bloom syndrome and maternal uniparental disomy for chromosome 15" by Trevor Woodage, Madhuri Prasad et al. (uwo.ca)
  • autosomal recessive inheritance, caused by mutation in the Bloom syndrome gene ( BLM ) on chromosome 15q. (thefreedictionary.com)
  • Cytogenetic findings in a Bloom syndrome patient with acute myeloid leukemia of the French-American-British subtype M1 showed an occurrence of total or partial loss of chromosome 7. (medigest.uk)
  • Also covered are chromosome instability syndromes, mutagen-induced chromosome damage in lymphocytes and the role of cytogenetics in the assessment of haematological disorders. (booktopia.com.au)
  • Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly , malar hypoplasia and facial telangiectesia, erythema and cafe au lait spots . (radiopaedia.org)
  • Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers. (bloomsyndrome.eu)
  • People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood. (medlineplus.gov)
  • People with Bloom syndrome have an increased risk of cancer. (medlineplus.gov)
  • Genetic changes that allow cells to divide in an uncontrolled way lead to the cancers that occur in people with Bloom syndrome. (medlineplus.gov)
  • Diabetes and problems with fertility are more common in people with Bloom syndrome. (johnstonhealth.org)
  • Support groups and counseling can be helpful for people with Bloom syndrome and for their families. (johnstonhealth.org)
  • People with Bloom syndrome are also at a higher risk of developing cancer in their lifetimes. (yourdna.com)
  • People with Bloom syndrome have a high pitched voice and unique facial features, including a long narrow face, a small jaw, and large ears and nose. (symptoma.com)
  • This is the gene that will normally govern recombination during cell division but in people with Bloom syndrome there is a malfunction. (healthh.com)
  • They have an increased risk of cancer and often develop more than one form of cancer with most people with Bloom syndrome having cancer by the age of twenty-five. (healthh.com)
  • Rothmund-Thomson syndrome (RTS) is a rare disorder that presents in childhood with characteristic skin findings, short stature, and congenital skeletal malformations [1]. (thefreedictionary.com)
  • Little is known about the functional interaction between the Bloom's syndrome protein (BLM) and the recombinase RAD51 within cells. (aacrjournals.org)
  • It has been proven that Bloom syndrome is a rare autosomal recessive disease, which lacks in DNA repair enzymes resulting in genomic alterations. (umich.edu)
  • Bloom syndrome (often abbreviated as BS in literature) is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. (wikipedia.org)
  • More broadly, Bloom syndrome is a member of a class of clinical entities that are characterized by chromosomal instability, genomic instability, or both and by cancer predisposition. (wikipedia.org)
  • Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive crossovers between homologous chromosomes and sister chromatid exchanges (SCEs). (wikipedia.org)
  • Bloom syndrome is a rare disorder of genomic instability, in which a variety of ocular abnormalities have been found. (bmj.com)
  • Bloom syndrome (BS) is a hereditary disorder characterized by pre- and postnatal growth retardation, genomic instability, and cancer. (rupress.org)
  • These syndromes (Bloom, Werner, and Rothmund-Thomson, respectively) all show genomic instability and cancer susceptibility, but each also has distinctive features. (rupress.org)
  • Interestingly, two other users of the RecQ family are mutated in the Werner (51) and Rothmund-Thomson (27) syndromes, which feature both premature ageing and genomic instability and predisposition to malignancy (23, 32). (bio-zentrum.com)
  • As with Bloom syndrome (BS), the cells derived from FA individuals show genomic instability. (bio-zentrum.com)
  • Interestingly, one of these complexes includes five FA core complex proteins, which suggests a functional connection between the pathways disturbed in these genomic instability syndromes. (bio-zentrum.com)
  • 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. (core.ac.uk)
  • Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), xeroderma pigmentosum (XP), trichothiodystrophy (TTD), combined xeroderma pigmentosum - Cockayne syndrome (XP-CS), restrictive dermopathy (RD), and Hutchinson-Gilford progeria syndrome (HGPS). (wikipedia.org)
  • Fig. 3: Xeroderma pigmentosum and Cockayne syndrome as examples of environmental impacts and genetics on DNA damage and repair. (nature.com)
  • Herein, we focus on the more common of the rare DNA repair disorders: ataxia telangiectasia, Bloom syndrome, Fanconi anemia, dyskeratosis congenita, Nijmegen breakage syndrome, Rothmund-Thomson syndrome, and Xeroderma pigmentosum. (aacrjournals.org)
  • Tumour predisposition syndromes in which cancers arise at an accelerated rate and in different organs - the equivalent of a sensitized background - provide a unique opportunity to examine how gene-environment interactions influence cancer risk when the initiating genetic defect responsible for malignancy is known. (nature.com)
  • Bloom syndrome is sometimes abbreviated as BSyn. (yourdna.com)
  • Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. (cdc.gov)
  • Bloom syndrome (BSyn) should be suspected in an individual with any of the following clinical or cytogenetic findings. (cdc.gov)
  • It is a rare disorder centered on a person's chromosomes discovered and described by Dr. David Bloom, an American dermatologist. (botw.org)
  • The condition was discovered and first described by New York dermatologist Dr. David Bloom in 1954. (wikipedia.org)
  • The dermatologist David Bloom first described the syndrome in 1954. (medigest.uk)
  • It was discovered in 1954 by Dr. David Bloom, a dermatologist, for whom the disorder is named after. (healthh.com)
  • Bloom syndrome is a rare medical condition, first described in New York City in 1954 by dermatologist David Bloom. (weillcornell.org)
  • A person with Bloom syndrome has short stature and facial rash that appears shortly after first exposure to the sun. (botw.org)
  • Our goal is to compile the collective information about this rare condition, because any single physician or even large medical center is likely to encounter no more than one person with Bloom syndrome. (weillcornell.org)
  • In 1989, Nicotera et al suggested that the major biochemical defect in persons with Bloom syndrome is chronic overproduction of the superoxide radical anion. (medscape.com)
  • This elevated sister chromatid exchange may play a role in the high cancer risk of persons with Bloom syndrome. (umich.edu)
  • The rash is variably expressed, being present in a majority but not all persons with Bloom syndrome, and it is on average less severe in females than in males. (wikipedia.org)
  • Persons with Bloom syndrome exhibit a paucity of subcutaneous fat. (wikipedia.org)
  • Although some persons with Bloom syndrome can struggle in school with subjects that require abstract thought, there is no evidence that intellectual disability is more common in Bloom syndrome than in other people. (wikipedia.org)
  • And many persons with Bloom syndrome have been diagnosed with multiple cancers. (wikipedia.org)
  • A mutation of the BLM gene causes bloom syndrome. (yourdna.com)
  • Our Bloom syndrome mutation analysis tests for 1 mutation for a 97% carrier detection rate in the Ashkenazi Jewish population. (integratedgenetics.com)
  • Mutation of the DNA ligase I gene may also account for the primary metabolic defect in Bloom syndrome, not because of a reduction in the number of protein molecules or to inhibitory substances, but rather to the ATP-binding and hydrolytic activity of the enzyme. (medigest.uk)
  • The cause of Bloom syndrome is a mutation in the gene called BLM. (healthh.com)
  • Is ideal for patients with a clinical suspicion of an inherited or a sporadic pediatric cancer syndrome due to de novo mutation. (blueprintgenetics.com)
  • In addition to the rash, Bloom syndrome also makes a person speak in a high pitched voice, have distinct facial features, possess moderate immune deficiency, and suffer hypo-gonadism leading to infertility in men and premature menopause in women. (botw.org)
  • Bloom syndrome is characterized by growth failure, skin anomalies with sun sensitivity, minor anatomic defects, excessive chromosomic fragility and usually severe immune deficiency. (nih.gov)
  • The immune deficiency is thought to be the cause of recurrent pneumonia and middle ear infections in persons with the syndrome. (wikipedia.org)
  • Term birth measurements confirm that the growth deficiency of Bloom syndrome has prenatal onset. (ovid.com)
  • There is extreme chromosomal fragility observed in Bloom syndrome which is due to defect in DNA synthesis as a result of DNA ligase I deficiency and affected individuals show extreme hypersensitivity to ultraviolet rays. (radiopaedia.org)
  • Patients with Bloom syndrome display proportional growth deficiency, with adult height rarely exceeding 5 feet (152 cm). (bmj.com)
  • Bloom syndrome is a rare autosomal recessive disorder characterized by telangiectases and photosensitivity, deficiency in growth of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. (medigest.uk)
  • In the 281 persons followed by the Bloom Syndrome Registry, 145 persons (51.6%) have been diagnosed with a malignant neoplasm, and there have been 227 malignancies. (wikipedia.org)
  • 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)
  • Since it was first diagnosed in medical literature in 1954, there are fewer than 300 cases documented by the Bloom Syndrome Registry. (yourdna.com)
  • The Bloom Syndrome Registry at Weill Cornell Medicine is a cooperative clinical and investigational effort involving medical professionals with experience caring for Bloom syndrome patients and the community of those affected by Bloom syndrome (including families). (weillcornell.org)
  • Photosensitivity in Bloom syndrome patients is a result of increased susceptibility to 313-nm light, approaching the ultraviolet (UV)-A range. (medscape.com)
  • McGee, R. B. & Nichols, K. E. Introduction to cancer genetic susceptibility syndromes. (nature.com)
  • In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. (bloomsyndrome.eu)
  • The Bloom's syndrome is commonly associated withan extreme increase in exchange events between sister chromatids and chromosomerearrangements and breakage. (steadyhealth.com)
  • Werner syndrome, by contrast, is an adult progeria characterized by multiple signs of aging that develop two to three decades prematurely. (rupress.org)
  • 100 µ g) BLM interacts with p53 in the regulation of transcription and is associated with Werner syndrome and colorectal cancer. (allelebiotech.com)
  • The most widely studied of the progeroid syndromes are Werner syndrome and Hutchinson-Gilford progeria, as they are seen to most resemble natural aging. (wikipedia.org)
  • There are five genes encoding RecQ in humans (RECQ1-5), and defects in RECQL2/WRN, RECQL3/BLM and RECQL4 lead to Werner syndrome (WS), Bloom syndrome (BS), and Rothmund-Thomson syndrome (RTS), respectively. (wikipedia.org)
  • Werner syndrome is inherited in an autosomal recessive manner, which means both parents must contribute a dysfunctional allele for an individual to develop the disease. (wikipedia.org)
  • Werner syndrome (WS) is a rare autosomal recessive disorder. (wikipedia.org)
  • Diseases associated with BLM include Bloom Syndrome and Werner Syndrome . (genecards.org)
  • Abstract DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. (bloomsyndrome.eu)
  • The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. (aacrjournals.org)
  • Given the rarity of these disorders, it is recommended that centralized centers of excellence be involved directly or through consultation in caring for patients with heritable DNA repair syndromes. (aacrjournals.org)
  • Rothmund-Thomson syndrome presents with skin and skeletal abnormalities and a high incidence of skin and bone neoplasms ( Vennos and James, 1995 ). (rupress.org)
  • Rothmund-Thomson syndrome (RTS) gene product RECQL4 localizes to the nucleolus in response to OS. (thefreedictionary.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)
  • Bloom Syndrome in Short Children Born Small for Gestational Age: A Challenging Diagnosis Background: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). (bloomsyndrome.eu)
  • Our team provides diagnosis, consultation and treatment for patients with Bloom syndrome, and works closely with researchers around the world to evaluate diagnosis and treatment methods. (weillcornell.org)
  • Baxi, L, Brown, S & Thaker, H 2007, ' False-positive quadruple screen test for trisomy 18 in a patient with a fetus with Bloom's syndrome ', Fetal Diagnosis and Therapy , vol. 22, no. 4, pp. 318-320. (utmb.edu)
  • Small body size, sun- sensitive facial skin lesions, immunodeficiency, and hypo- and hyperpigmented skin are just some of the predominant clinical features of this syndrome (Ellis, 1995). (umich.edu)
  • There are a variety of excellent sources for more detailed clinical information about Bloom syndrome. (wikipedia.org)
  • Bloom syndrome should be suspected if any of the clinical or cytogenetic criteria described below are found. (medscape.com)
  • Clinical data were collected over 1 year of follow up, and ocular abnormalities in Bloom syndrome were reviewed from the literature. (bmj.com)
  • Dedicated syndrome registries and a combination of basic science and clinical research have led to important insights into the underlying biology of these disorders. (aacrjournals.org)
  • Dedicated syndrome registries, basic science, and clinical research have provided insights into the treatment and management for individuals with these rare disorders of aberrant DNA repair mechanisms. (aacrjournals.org)
  • Our goal is to characterize Bloom syndrome natural history, maintain a database of clinical information, and obtain samples from affected persons to study the cellular basis of Bloom Syndrome traits. (weillcornell.org)
  • As a clinical repository, we strive to serve those with Bloom syndrome and their families, provide knowledge about the condition, and use this knowledge to improve outcomes. (weillcornell.org)
  • Since 1960, persons with the very rare disorder Bloom's syndrome (BS) have been followed clinically, documenting clinical matters as obtained from their doctors. (bioportfolio.com)
  • [ 15 ] Cellular sensitivity in Bloom syndrome patients is in the form of phototoxicity and not photocarcinogenicity, as is seen in xeroderma pigmentosa. (medscape.com)
  • Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer. (medlineplus.gov)
  • 2000, view Bloom Syndrome disclosure abuse emphasized stated into the broader advocacy of coating vision. (dobermann-stuttgart.de)
  • [ 16 ] Bloom syndrome patients exhibit a greater vulnerability of their DNA to UV radiation than DNA of healthy populations. (medscape.com)
  • Bloom syndrome patients also demonstrate impairment in lymphocytic proliferation, deficient immunoglobulin synthesis, and lowered response to mitogen stimulation, resulting in impairment of both cellular and humoral immune responses. (medscape.com)
  • There is an increase risk of cancer, particularly leukemia, in Bloom syndrome patients. (umich.edu)
  • Home / For Patients and Families / Find a Patient Organization / Bloom's Syndrome Association, Inc. (rarediseases.org)
  • Genetic counseling could be offered to parents of patients with Bloom syndrome. (medscape.com)
  • There is no consensus regarding cancer surveillance in Bloom syndrome patients. (medscape.com)
  • The most important recommendation is to observe Bloom syndrome patients for any signs and symptoms that warrant further investigations (eg, complete blood cell count with any constitutional symptoms). (medscape.com)
  • As life progresses, patients with Bloom syndrome have an increased rate of malignant tumors, especially leukemia and squamous cell cancer of the skin. (wikibooks.org)
  • The fact that patients with this syndrome require constant medical follow-up may be overwhelming for patients and families. (wikibooks.org)
  • Therefore, early mortality is common, with about one third of patients with Bloom syndrome dying in their mid-20s. (bmj.com)
  • In behalf of all the patients of Bloom syndrome, new steps have to be made. (bloomsyndrome.eu)
  • Notably, all patients have elevated risks of syndrome-associated cancers, and many of these cancers present in childhood. (aacrjournals.org)
  • Puberty in 24 patients with Klinefelter syndrome. (nih.gov)
  • The most serious and frequent complication of Bloom syndrome is cancer. (wikipedia.org)
  • The most common cause of death in Bloom syndrome is from cancer. (wikipedia.org)
  • The Saccharomyces cerevisiae SGS1 gene is homologous to Escherichia coli RecQ and the human BLM and WRN proteins that are defective in the cancer-prone disorder Bloom's syndrome and the premature aging disorder Werner's syndrome, respectively. (genetics.org)
  • Bloom's syndrome displays one of the strongest known correlations between chromosomal instability and a high risk of cancer at an early age. (aacrjournals.org)
  • [3] Progeroid syndromes have been widely studied in the fields of aging, regeneration , stem cells , and cancer . (wikipedia.org)
  • Adults with Bloom's syndrome should be more cautious and atentive than others in their surveillance for cancer. (medigest.uk)
  • At the beginning of 2006 a lab was set up at the Ohio University Comprehensive Cancer Center (US) to do research on Bloom syndrome. (bloomsyndrome.eu)
  • Because most of these tumors do not respond to the different treatments along with the high rate that they occur most people do not live nearly as long as someone who does not have this genetic syndrome but exactly how long will depend on the course of these malignant diseases and what type of cancer care they receive. (healthh.com)
  • Bloom's syndrome is additionally known for being closely relatedto certain types of cancer such as carcinomas, lymphomas and leukemia, amongothers. (steadyhealth.com)
  • Bloom syndrome is a rare genetic condition associated with growth concerns, skin abnormalities and an increased risk for cancer of many types. (weillcornell.org)
  • In Bloom syndrome (BS), an inherited condition that predisposes strongly to cancer, including carcinomas, this assay has revealed a rate of SCE ≈10 times more frequent per cell cycle than is observed in control cells ( 3 ), whose rate is ≈5 SCEs per cell cycle. (pnas.org)
  • Bloom's syndrome (BS) is a genetic disorder associated with short stature, fertility defects, and a predisposition to the development of cancer. (ox.ac.uk)
  • However, a small proportion of childhood leukemia and solid tumors are caused by hereditary cancer syndromes. (blueprintgenetics.com)
  • The main forms of hereditary cancer syndromes affecting children, adolescents, and young adults are Li-Fraumeni syndrome ( TP53 ), hereditary pheochromocytoma-paraganglioma ( SDH genes), pleuropulmonaryblastoma tumor predisposition syndrome ( DICER1 ), rhabdoid tumor of the kidney ( SMARCB1 ) and multiple endocrine neoplasia ( MEN1 and RET ). (blueprintgenetics.com)
  • Treatment will usually involve treating the secondary diseases that Bloom syndrome causes like pneumonia and ear infections which will normally be treated with antibiotics. (healthh.com)
  • While recQ mutants are deficient in conjugational recombination and DNA repair, Bloom's syndrome cell lines show hyperrecombination. (genetics.org)
  • Find a description of Bloom's Syndrome including the symptoms and cause. (botw.org)
  • There are medical conditions that carry similar symptoms associated with Bloom Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. (medigest.uk)
  • The most common symptoms of the Bloom's syndrome include afacial rash which occurs rather shortly after exposure to sun and acharacteristic short stature of a person. (steadyhealth.com)
  • Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. (medscape.com)
  • Kim SY, Hakoshima T, Kitano K. Structure of the RecQ C-terminal domain of human Bloom syndrome protein. (medscape.com)
  • With Bloom syndrome, the BLM gene, which provides instructions for making a member of the protein family called RecQ helicases, does not function correctly. (yourdna.com)
  • MM1 and MM2 are proteins identified in Bloom syndrome and Fanconi anemia, creating a link between them. (medscape.com)
  • Fanconi Anemia (FA) and Bloom's Syndrome (BS) are unique rare genetic disorders that have some key characteristics in common. (eurekalert.org)
  • The expanded panel tests for nine autosomal recessive diseases and consists of Bloom syndrome , Canavan disease, Cystic fibrosis, Familial dysautonomia, Fanconi anemia, Glycogen, Niemann-Pick disease type A, and Tay-Sachs disease. (thefreedictionary.com)
  • It is standard of care to offer carrier screening to individuals of Ashkenazi Jewish descent for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, mucolipidosis type IV, Niemann-Pick disease type A, spinal muscular atrophy and Tay-Sachs disease. (integratedgenetics.com)
  • Fanconi anemia can turn into myelodysplastic syndrome (MDS) or leukemia. (cancer.ca)
  • Couples who are planning a pregnancy or who are already pregnant may decide to have testing to find out if they are carriers and at risk of having a baby with Bloom syndrome. (integratedgenetics.com)
  • In early life, a baby with Bloom syndrome typically shows a less-than-normal interest in nursing, and, later, usually demonstrates a similar behavior towards eating. (weillcornell.org)
  • The most prominent feature of Bloom syndrome is proportional small size. (wikipedia.org)
  • The most prominent and only constant physical feature of Bloom syndrome is small size, which includes height, weight and head size in most circumstances. (weillcornell.org)
  • Notably, inactivation of RMI2 in chicken DT40 cells results in an increased level of sister chromatid exchange (SCE) - the hallmark feature of Bloom syndrome cells. (umn.edu)
  • They thought that inefficient removal of peroxide might be responsible for the high rates of sister chromatid exchange and chromosomal damage in Bloom syndrome cells. (medscape.com)
  • Phenotype of Bloom Syndrome Cells. (umich.edu)
  • Bloom syndrome is caused by changes in a protein that normally helps cells make copies of the DNA. (cancer.gov)
  • The hallmark of Bloom's syndrome cells is a high rate of sister chromatid exchange (SCE), generally thought to be the consequence of replication-dependent double-strand breaks. (aacrjournals.org)
  • The presence of this syndrome also will affect how long a person can undergo radiation or chemotherapy because the hypersensitive cells cannot stand either of these harsh treatments for a long period of time. (healthh.com)
  • Group IV (≤1108 ± 69 cells L-1) was primarily observed along the route of the TWC in summer 2009, when the bloom of this subpopulation occurred in southern KCW. (bioportfolio.com)
  • Bloom syndrome is a rare disorder. (medlineplus.gov)
  • Bloom syndrome is a rare autosomal recessive genetic disease that features an elevated rate of sister chromatid exchange. (umich.edu)
  • Bloom syndrome is an incredibly rare disorder, with approximately 140 cases having been reported. (wikibooks.org)
  • Bloom syndrome is a rare, autosomal recessive disease characterised by short stature, immunodeficiency, and a predilection for malignancies and diabetes. (bmj.com)
  • Progeroid syndromes ( PS ) are a group of rare genetic disorders which mimic physiological aging , making affected individuals appear to be older than they are. (wikipedia.org)
  • Bloom syndrome is an extremely rare inherited disorder. (yourdna.com)
  • Blooms syndrome is a very rare inherited genetic disorder. (bloomsyndrome.eu)
  • Bloom-Torre-Machacek syndrome or simply Bloom's syndrome isa certain rare medical condition which is classified as an autosomal recessivechromosomal one. (steadyhealth.com)
  • Bloom syndrome (BS) is a rare autosomal recessive genetic disorder characterized by lupus-like erythematous telangiectasia of the face, sun sensitivity, infertility and stunted growth. (nih.gov)
  • Bloom syndrome is an inherited genetic disease that causes small size at birth, short stature after birth, redness of the skin, and an increased number of respiratory tract and ear infections. (johnstonhealth.org)
  • The most Bloom syndrome sufferers can do is to protect their sensitive skin and employ symptomatic treatment or address conditions that may arise from or may be aggravated by the disorder such as chronic lung disease and learning disability. (botw.org)
  • Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood. (radiopaedia.org)
  • Metabolic syndrome presenting as abdominal pain . (symptoma.com)
  • Organization that provides funding for research aimed at the development of a therapy for Bloom's Syndrome and the prevention of its complications. (botw.org)
  • The Bloom Syndrome Foundation is established to fund research aiming at the development of a therapy for Bloom's syndrome and the prevention of its complications, primarily the significant risk of developing cancers at early ages. (bloomsyndrome.eu)
  • Because it is so seldom found, research labs and pharmaceutical corporations are not interested to investigate this syndrome or the complications of it. (bloomsyndrome.eu)
  • The big problem with the Bloom's syndrome is that itmay also be involved with a large number of further medical complications andthese basically include mental retardation, learning disabilities, diabetes andchronic lung problems. (steadyhealth.com)
  • Bloom's and Werner's syndrome cell lines both exhibit chromosomal instability. (genetics.org)