| Syndrome-causing mutations in Werner syndrome. | |
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MedLine Citation:
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PMID: 20103920 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Makoto Goto |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Bioscience trends Volume: 2 ISSN: 1881-7823 ISO Abbreviation: Biosci Trends Publication Date: 2008 Aug |
Date Detail:
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Created Date: 2010-01-27 Completed Date: 2010-05-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101502754 Medline TA: Biosci Trends Country: Japan |
Other Details:
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Languages: eng Pagination: 147-50 Citation Subset: IM |
Affiliation:
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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. goto@cc.toin.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Exodeoxyribonucleases
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genetics Humans Mutation RecQ Helicases / genetics Werner Syndrome / genetics* Xeroderma Pigmentosum / genetics |
| Chemical | |
Reg. No./Substance:
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EC 3.1.-/Exodeoxyribonucleases; EC 3.6.1.-/RecQ Helicases; EC 3.6.1.-/WRN protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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