Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 고광웅 | - |
dc.date.accessioned | 2018-03-28T12:49:13Z | - |
dc.date.available | 2018-03-28T12:49:13Z | - |
dc.date.issued | 2013-09 | - |
dc.identifier.citation | HUMAN MUTATION 권: 34 호: 9 페이지: 1221-1225 | en_US |
dc.identifier.issn | 1059-7794 | - |
dc.identifier.uri | http://dx.doi.org/10.1002/humu.22360 | - |
dc.identifier.uri | http://hdl.handle.net/20.500.11754/53438 | - |
dc.description.abstract | A rare mutation in LRP6 has been shown to underlie autosomal dominant coronary artery disease (CAD) and metabolic syndrome in an Iranian kindred. The prevalence and spectrum of LRP6 mutations in the disease population of the United States is not known. Two hundred white Americans with early onset familial CAD and metabolic syndrome and 2,000 healthy Northern European controls were screened for nonconservative mutations in LRP6. Three novel mutations were identified, which cosegregated with the metabolic traits in the kindreds of the affected subjects and none in the controls. All three mutations reside in the second propeller domain, which plays a critical role in ligand binding. Two of the mutations substituted highly conserved arginines in the second YWTD domain and the third substituted a conserved glycosylation site. The functional characterization of one of the variants showed that it impairs Wnt signaling and acts as a loss of function mutation. (C) 2013 Wiley Periodicals, Inc. | en_US |
dc.description.sponsorship | NIH | en_US |
dc.language.iso | en | en_US |
dc.publisher | John Wiley & Sons, Ltd | en_US |
dc.subject | LRP | en_US |
dc.subject | metabolic syndrome | en_US |
dc.subject | mutation | en_US |
dc.subject | coronary artery disease | en_US |
dc.title | Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1002/humu.22360 | - |
dc.relation.journal | HUMAN MUTATION | - |
dc.contributor.googleauthor | Singh, R. | - |
dc.contributor.googleauthor | Smith, E. | - |
dc.contributor.googleauthor | Fathzadeh, M. | - |
dc.contributor.googleauthor | Liu, W. | - |
dc.contributor.googleauthor | Go, G. W. | - |
dc.contributor.googleauthor | Subrahmanyan, L. | - |
dc.contributor.googleauthor | Faramarzi, S. | - |
dc.contributor.googleauthor | McKenna, W. | - |
dc.contributor.googleauthor | Mani, A. | - |
dc.relation.code | 2013010119 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF HUMAN ECOLOGY[S] | - |
dc.sector.department | DEPARTMENT OF FOOD & NUTRITION | - |
dc.identifier.pid | gwgo1015 | - |
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