*  UW Genome Sciences: past GS Seminars
Bloom's Syndrome: A Chromosomal Instability Disorder Associated with Cancer Predisposition' website. Wed, February 12 - Dr. ... Treating mRNA splicing disorders using splice modulator compounds' flier. February 24 - Dr. Hana El-Samad. UC San Francisco " ... Genomic instability and cancer : Lessons from the analysis of BRCA1'. October 1 - Dr. Harmit Malik. Fred Hutchinson Cancer ... "Protein Intrinsic Disorder and Cell Signaling". Indiana University - Purdue University Indianapolis. October 27 - Dr. Anna Di ...
  http://www.gs.washington.edu/news/pastseminars.htm
*  Bloom syndrome: multiple retinopathies in a chromosome breakage disorder | British Journal of Ophthalmology
... a proposed mechanism of chromosomal instability in Bloom's syndrome. Oncogene 2002;21:2525-32. ... Conclusions: Bloom syndrome is a rare disorder of genomic instability, in which a variety of ocular abnormalities have been ... Bloom syndrome. Bloom syndrome is a rare, autosomal recessive disease characterised by short stature, immunodeficiency, and a ... Genomic instability can affect virtually all genetic loci, cell types, and tissues in an individual with Bloom syndrome, so it ...
  http://bjo.bmj.com/content/88/3/354
*  Keyword associations Flashcards by AT T | Brainscape
chromosomal instability disorders xeroderma pigmentosum, Fanconi anemia, Bloom's syndrome, ataxia-telangectasia 29 ... aplastic anemia, fatal hematologic disorders: azathiprine is metabolized to 6-MP which is inactivated by xanthine oxidase (but ... Guillain Hashimoto Contacts Multiple PPD+ Type I Diabetic 4 a Graft: Guillain Barre Syndrome; Hashimoto thyroiditis; Contact ...
  https://www.brainscape.com/flashcards/keyword-associations-2503762/packs/4377362
*  BLM Gene - GeneCards | BLM Protein | BLM Antibody
... disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium ... Bloom Syndrome RecQ Like Helicase, including: function, proteins, ... BLM (Bloom Syndrome RecQ Like Helicase) is a Protein Coding gene. Diseases associated with BLM include Bloom Syndrome and ... and chromosomal instability. {ECO:0000269 PubMed:10862105, ECO:0000269 PubMed:7585968, ECO:0000269 PubMed:9285778}. Note=The ...
  http://www.genecards.org/cgi-bin/carddisp.pl?id_type=hgnc&id=1058
*  Acute myelocytic leukemia (acute myeloblastic leukemia, acute myeloid leukemia)
Many rare genetic disorders leading to chromosomal instability (trisomy 21, Blooms syndrome, Kleinfelter syndrome, Fanconi ... Acute kidney injury/tumor lysis syndrome. TLS is a metabolic syndrome associated with rapid tumor cell breakdown and release of ... Other major risk factors involve preceding myelodysplastic syndrome (MDS) and myeloproliferative disorders, all of which have a ... Differentiation syndrome. Patients with APML treated with ATRA or arsenic trioxide may develop a differentiation syndrome ...
  https://www.clinicalpainadvisor.com/hospital-medicine/acute-myelocytic-leukemia-acute-myeloblastic-leukemia-acute-myeloid-leukemia/article/601273/
*  Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports | Journal of Medical Case...
Bloom syndrome is a rare, autosomal recessive, chromosomal instability disorder caused by mutations in the BLM gene that ... Bloom syndromeCancer riskChromosomal instabilitySister chromatid exchangeWilms' tumor. Introduction. Bloom syndrome (BS; Online ... BS is a rare, autosomal recessive, chromosomal instability disorder with remarkably increased risk for developing neoplasias at ... chromosomal instability disorder [2] caused by mutations in the BLM gene, which encodes a product necessary for the maintenance ...
  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/1752-1947-7-284
*  DNA Repair-Deficiency Disorders - Chromosome Instability Syndromes Summary Report | CureHunter
Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE. ... Bloom syndrome) and after treatment with Trenimon. ". 02/01/1994 - "The popular idea that DNA polymerase beta participates in ... 01/01/1983 - "The gene locus assignments were taken from a recent review (McKusick 1982); the chromosomal distances were those ... Chromosome Instability Syndromes; Chromosome Instability Syndrome; Deficient DNA Repair; DNA Repair Deficiency; DNA Repair ...
  http://www.curehunter.com/public/keywordSummaryD049914.do
*  SMART: HRDC domain annotation
Mutations in the HRDC domain associated with the human BLM gene result in Bloom Syndrome (BS), an autosomal recessive disorder ... and chromosomal instability [(PUBMED:9397680)]. ... However, in the Werner and Bloom syndrome helicases the HRDC ... Structure of HRDC domain from human Bloom syndrome protein, BLM. 3cym. Crystal structure of protein BAD_0989 from ... HRDC domains are found at the C terminus of many RecQ helicases, including the human Werner and Bloom syndrome proteins [( ...
  http://smart.embl.de/smart/do_annotation.pl?DOMAIN=SM00341
*  Progeroid syndromes - Wikipedia
Bloom syndrome (BS) is a very rare autosomal recessive disorder. Incidence rates are unknown, although it is known to be higher ... On the cellular level, cells of affected individuals exhibit chromosomal abnormalities, genomic instability, and sensitivity to ... Werner syndrome (WS) Bloom syndrome (BS) Rothmund-Thomson syndrome (RTS) Cockayne syndrome (CS) Xeroderma pigmentosum (XP) ... Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), ...
  https://en.wikipedia.org/wiki/Progeroid_syndromes
*  Chromosome instability - Wikipedia
Chromosomal instability can in turn cause cancer. However, chromosomal instability syndromes such as Bloom syndrome, ataxia ... Disorders such as chromosome instability can be inherited via genes, or acquired later in life due to environmental exposure. ... the majority of colorectal and other solid cancers have chromosomal instability (CIN). This shows that chromosomal instability ... Chromosomal instability (CIN) is a type of genomic instability in which chromosomes are unstable, such that either whole ...
  https://en.wikipedia.org/wiki/Chromosome_instability
*  Nijmegen Breakage Syndrome Publications and Abstracts | PubFacts.com
Nijmegen breakage syndrome (NBS, MIM #251260) is an autosomal recessive chromosomal instability disorder. Majority of patients ... Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are ... Nijmegen breakage syndrome (NBS) is a rare autosomal recessive chromosomal instability disorder characterized by microcephaly, ... Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients.. * ...
  https://www.pubfacts.com/search/Nijmegen+Breakage+Syndrome
*  Chromosome instability syndrome - Wikipedia
The following chromosome instability syndromes are known: Ataxia telangiectasia Ataxia telangiectasia-like disorder Bloom ... Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They ... syndrome Fanconi anaemia Nijmegen breakage syndrome Taylor AM (2001). "Chromosome instability syndromes". Best Pract Res Clin ...
  https://en.wikipedia.org/wiki/Chromosome_instability_syndrome
*  Progeroid syndromes - Wikipedia
Bloom syndrome[edit]. Main article: Bloom syndrome. Bloom syndrome (BS) is a very rare autosomal recessive disorder.[21] ... cells of affected individuals exhibit chromosomal abnormalities, genomic instability, and sensitivity to mutagens.[7] ... 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), ...
  https://en.wikipedia.org/wiki/Accelerated_aging_disease
*  Constitutional Genetics
We also perform chromosomal instability testing for Ataxia Telangiectasia, Fanconi Anaemia and Blooms syndrome. ... Connective tissue disorders. The connective tissue disorders (CTD) service is a rapidly expanding service offering testing for ... We offer specialist services for developmental disorders, reproductive genetics, connective tissue disorders, neurogenetic ... peroxisomal disorders, urea cycle disorders and familial hypercholesterolaemia. ...
  https://www.sheffieldchildrens.nhs.uk/sdgs/constitutional-genetics/
*  Genetic Disorders Info Archives - Page 2 of 8 - CytoGenx
This entry was posted in Genetic Disorders Info on October 16, 2014. by admin. Bloom Syndrome Info Genetics The gene ... Small stature, immunodeficiency, chromosomal instability, and a predisposition to different types of cancer and infection ... Bloom syndrome is an autosomal recessive disorder. The predominant mutation is referred to as "blmAsh", a 6-bp deletion and 7- ... Edwards Syndrome (trisomy 18) Info Genetics. Trisomy 18 or Edwards Syndrome is a genetic disorder caused by the presence of an ...
  http://cytogenx.com/category/genetic-disorders-info/page/2/
*  Molecular anchor links the 2 inheritable diseases Fanconi anemia and Bloom's syndrome | EurekAlert! Science News
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 ... Fanconi Anemia (FA) and Bloom's Syndrome (BS) are unique rare genetic disorders that have some key characteristics in common. ... went on to show that a disruption of the interaction between the two core complexes and FANCM led to similar chromosomal repair ...
  https://www.eurekalert.org/pub_releases/2009-12/cp-mal121709.php
*  Fanconi anemia - Wikipedia
Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". Mol. ... 2010). "Numerical chromosomal changes and risk of development of myelodysplastic syndrome-acute myeloid leukemia in patients ... 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 ...
  https://en.wikipedia.org/wiki/Fanconi_anemia
*  Molecular analyses of RECQ1 functions in genome maintenance - Sudha Sharma
Mutations in BLM, WRN and RecQ4 are associated with distinct genetic disorders of Bloom, Werner, and Rothmund-Thomson syndromes ... its deficiency induces accumulation of DNA damage and chromosomal instability. RECQ1 binds and unwinds DNA structures that ... Thus, a defect in one RecQ protein is sufficient to cause genomic instability that cannot be compensated by other RecQ homologs ... Garige, Mamatha; Sharma, Sudha (2014) Cellular deficiency of Werner syndrome protein or RECQ1 promotes genotoxic potential of ...
  http://grantome.com/grant/NIH/SC1-GM093999-05
*  Genetics of Skin Cancer (PDQ®) (Health professionals) | OncoLink
Bloom syndrome. Loss of genomic stability is also the major cause of Bloom syndrome. This disorder shows increased chromosomal ... Werner syndrome. Like Bloom syndrome, Werner syndrome is characterized by spontaneous chromosomal instability, resulting in ... Other helicases with similar function are altered in other chromosomal instability syndromes, such as BLM in Bloom syndrome and ... Pathogenic variants in similar DNA helicases lead to the inherited disorders of Bloom syndrome and Werner syndrome. ...
  https://www.oncolink.org/healthcare-professionals/nci/pqid-CDR0000552637
*  Frontiers | Genome maintenance and transcription integrity in aging and disease | Genetics
DNA polymerase blockage leads to replication arrest and can gives rise to genome instability. Transcription, on the other hand ... Here we review human disorders that are caused by defects in genome stability to explore the role of DNA damage in ageing and ... DNA polymerase blockage leads to replication arrest and can gives rise to genome instability. Transcription, on the other hand ... Here we review human disorders that are caused by defects in genome stability to explore the role of DNA damage in ageing and ...
  https://www.frontiersin.org/articles/10.3389/fgene.2013.00019/full
*  Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF) - Mayo Medical Laboratories | Genetics and...
... increased chromosomal breakage and sister chromatid exchange) and cause the clinical manifestations of Bloom syndrome. The ... AJPO: Polymerase chain reaction (PCR) analysis is used to test for mutations associated with 8 disorders prevalent in the ... Mutations in the BLM gene lead to genetic instability ( ... Bloom Syndrome:. Bloom syndrome is characterized by short ... 81209-BLM (Bloom syndrome, Rec! helicase-like) (eg, Bloom syndrome) gene analysis, 2281 del6ins7 variant ...
  http://genetics.testcatalog.org/show/AJPO
*  Patent US7977108 - Method for detecting a mutation in a repetitive nucleic acid sequence - Google Patents
In certain embodiments, for example, these approaches and reagents can be used to detect instability in regions of genomic DNA ... 1996) "Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability," Mutat Res. ... General categories of genetic disorders include chromosome disorders, single-gene disorders, multifactorial disorders, and ... A nucleic acid can be or include, e.g., a chromosome or chromosomal segment, a vector (e.g., an expression vector), an ...
  http://www.google.com/patents/US7977108?dq=645576
*  Coregulation of FANCA and BRCA1 in human cells | SpringerPlus | Full Text
Fanconi anemia (FA) is a rare, recessive, genetically heterogeneous, chromosomal instability disorder, characterized by ... genomic instability (P-value: 4.42E-04), microcephaly (P-value: 8.33E-04), and Bloom syndrome (P-value: 3.33E-03) and an ... Genes coregulated with both FANCA and BRCA1 were enriched for MeSH-Term id(s) genomic instability, microcephaly, and Bloom ... Fanconi anemia (FA) is a genetically heterogeneous syndrome associated with increased cancer predisposition. The underlying ...
  https://springerplus.springeropen.com/articles/10.1186/2193-1801-3-381
*  Tumor Necrosis Factor-?? | Targeting NRAS in Melanoma and Acute Myelogenous Leukemia
Unrestricted HR activity is certainly a hallmark of hereditary disorders such as for example Bloom (BLM) and Werner syndromes ... DNA double-strand breaks (DSBs) represent the BMS-690514 most toxic chromosomal lesion arising from a variety of sources such ... both which screen a hyper-recombination phenotype and genomic instability (Sung and Klein 2006 Branzei and Foiani 2007 To ... 2003 In human beings the genes mutated in BLM Werner and Rothmund-Thomson (RecQL4) syndromes also encode helicases owned by the ...
  http://scienceofgreathealth.com/category/tumor-necrosis-factor/
*  Sobeck Lab:Publications - OpenWetWare
Genetic Instability and Fanconi Syndrome. In: F.M. Hisami, S.M. Weissman and G.M. Martin, Editors, Chromosomal Instability and ... Yin J*, Sobeck A*, Xu C*, Meetei AR, Hoatlin M, Li L, Wang W (2005): BLAP75, an essential component of Bloom's syndrome protein ... Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet. 84: 605-16. [10] ... a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability. Genes Dev 22: 2843-55. [11] ...
  https://openwetware.org/wiki/Sobeck_Lab:Publications