| http://purl.uniprot.org/citations/22772368 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22772368 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22772368 | http://www.w3.org/2000/01/rdf-schema#comment | "Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth factor (TGF)-β signaling but is often caused by heterozygous mutations in genes encoding positive effectors of TGF-β signaling, including either subunit of the TGF-β receptor or SMAD3, thereby engendering controversy regarding the mechanism of disease. Here, we report heterozygous mutations or deletions in the gene encoding the TGF-β2 ligand for a phenotype within the LDS spectrum and show upregulation of TGF-β signaling in aortic tissue from affected individuals. Furthermore, haploinsufficient Tgfb2(+/-) mice have aortic root aneurysm and biochemical evidence of increased canonical and noncanonical TGF-β signaling. Mice that harbor both a mutant Marfan syndrome (MFS) allele (Fbn1(C1039G/+)) and Tgfb2 haploinsufficiency show increased TGF-β signaling and phenotypic worsening in association with normalization of TGF-β2 expression and high expression of TGF-β1. Taken together, these data support the hypothesis that compensatory autocrine and/or paracrine events contribute to the pathogenesis of TGF-β-mediated vasculopathies."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2349"xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2349"xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Chen Y."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Chen Y."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Lindsay M.E."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Lindsay M.E."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Elias A.F."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Elias A.F."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Doyle J.J."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Doyle J.J."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Byers P.H."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Byers P.H."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Anderlid B.M."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Anderlid B.M."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Mortier G.R."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Mortier G.R."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Van Laer L."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Van Laer L."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Gallo E."xsd:string |
| http://purl.uniprot.org/citations/22772368 | http://purl.uniprot.org/core/author | "Gallo E."xsd:string |