Document Detail

Syndrome-causing mutations in Werner syndrome.
MedLine Citation:
PMID:  20103920     Owner:  NLM     Status:  MEDLINE    
Complete loss of function in the WRN: RecQ3 DNA/RNA helicase gene causes Werner Syndrome (WS). WS patients with genetic instability manifest an early onset of age-related diseases including diabetes mellitus (DM), osteoporosis, atherosclerosis, and malignancy as well as early death. In 1,420 patients, WS was reported to be associated with chromosomal abnormality syndrome and other genetic diseases including Klinefelter syndrome in 2 patients, retinitis pigmentosa in 3, Wilson's disease in 1, xeroderma pigmentosum in 3, and porokeratosis Mibelli in 1. These clinical findings may support the concept of genetic instability in WS.
Makoto Goto
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Bioscience trends     Volume:  2     ISSN:  1881-7823     ISO Abbreviation:  Biosci Trends     Publication Date:  2008 Aug 
Date Detail:
Created Date:  2010-01-27     Completed Date:  2010-05-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101502754     Medline TA:  Biosci Trends     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  147-50     Citation Subset:  IM    
Division of Anti-Ageing and Longevity Sciences, Department of Clinical Engineering, Faculty of BioMedical Engineering, Toin University of Yokohama, 1614 Kurogane-Cho, Aoba-ku, Yokohama, Japan.
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MeSH Terms
Exodeoxyribonucleases / genetics
RecQ Helicases / genetics
Werner Syndrome / genetics*
Xeroderma Pigmentosum / genetics
Reg. No./Substance:
EC 3.1.-/Exodeoxyribonucleases; EC 3.6.1.-/RecQ Helicases; EC 3.6.1.-/WRN protein, human

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