| http://purl.uniprot.org/citations/22772371 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22772371 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22772371 | http://www.w3.org/2000/01/rdf-schema#comment | "A predisposition for thoracic aortic aneurysms leading to acute aortic dissections can be inherited in families in an autosomal dominant manner. Genome-wide linkage analysis of two large unrelated families with thoracic aortic disease followed by whole-exome sequencing of affected relatives identified causative mutations in TGFB2. These mutations-a frameshift mutation in exon 6 and a nonsense mutation in exon 4-segregated with disease with a combined logarithm of odds (LOD) score of 7.7. Sanger sequencing of 276 probands from families with inherited thoracic aortic disease identified 2 additional TGFB2 mutations. TGFB2 encodes transforming growth factor (TGF)-β2, and the mutations are predicted to cause haploinsufficiency for TGFB2; however, aortic tissue from cases paradoxically shows increased TGF-β2 expression and immunostaining. Thus, haploinsufficiency for TGFB2 predisposes to thoracic aortic disease, suggesting that the initial pathway driving disease is decreased cellular TGF-β2 levels leading to a secondary increase in TGF-β2 production in the diseased aorta."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2348"xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2348"xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Guo D.C."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Guo D.C."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Gong L."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Gong L."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Shendure J."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Shendure J."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Leal S.M."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Leal S.M."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Nickerson D.A."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Nickerson D.A."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Santos-Cortez R.L."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Santos-Cortez R.L."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Michel J.B."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Michel J.B."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Rieder M.J."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Rieder M.J."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Milewicz D.M."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Milewicz D.M."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Regalado E.S."xsd:string |
| http://purl.uniprot.org/citations/22772371 | http://purl.uniprot.org/core/author | "Regalado E.S."xsd:string |