Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 여창열 | * |
dc.date.accessioned | 2016-08-28T11:08:15Z | - |
dc.date.available | 2016-08-28T11:08:15Z | - |
dc.date.issued | 2013 | * |
dc.identifier.issn | 1552-4825 | * |
dc.identifier.other | OAK-10765 | * |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/227288 | - |
dc.description.abstract | The transforming growth factor β (TGF-β) family of growth factors are key regulators of mammalian development and their dysregulation is implicated in human disease, notably, heritable vasculopathies including Marfan (MFS, OMIM #154700) and Loeys-Dietz syndromes (LDS, OMIM #609192). We described a syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, a failure of normal post-natal muscle development but no evidence of vascular disease; some of these features overlap with MFS and LDS. A de novo mutation in TGFB3 was identified by exome sequencing. Several lines of evidence indicate the mutation is hypomorphic suggesting that decreased TGF-β signaling from a loss of TGFB3 activity is likely responsible for the clinical phenotype. This is the first example of a mutation in the coding portion of TGFB3 implicated in a clinical syndrome suggesting TGFB3 is essential for both human palatogenesis and normal muscle growth. © 2013 Wiley Periodicals, Inc. | * |
dc.language | English | * |
dc.title | A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys-dietz syndrome | * |
dc.type | Article | * |
dc.relation.issue | 8 | * |
dc.relation.volume | 161 | * |
dc.relation.index | SCI | * |
dc.relation.index | SCIE | * |
dc.relation.index | SCOPUS | * |
dc.relation.startpage | 2040 | * |
dc.relation.lastpage | 2046 | * |
dc.relation.journaltitle | American Journal of Medical Genetics, Part A | * |
dc.identifier.doi | 10.1002/ajmg.a.36056 | * |
dc.identifier.wosid | WOS:000327789600031 | * |
dc.identifier.scopusid | 2-s2.0-84880722389 | * |
dc.author.google | Rienhoff H.Y. | * |
dc.author.google | Yeo C.-Y. | * |
dc.author.google | Morissette R. | * |
dc.author.google | Khrebtukova I. | * |
dc.author.google | Melnick J. | * |
dc.author.google | Luo S. | * |
dc.author.google | Leng N. | * |
dc.author.google | Kim Y.-J. | * |
dc.author.google | Schroth G. | * |
dc.author.google | Westwick J. | * |
dc.author.google | Vogel H. | * |
dc.author.google | Mcdonnell N. | * |
dc.author.google | Hall J.G. | * |
dc.author.google | Whitman M. | * |
dc.contributor.scopusid | 여창열(7102545519) | * |
dc.date.modifydate | 20240802081000 | * |