Ontology highlight
ABSTRACT:
SUBMITTER: Ng CM
PROVIDER: S-EPMC529498 | biostudies-literature | 2004 Dec
REPOSITORIES: biostudies-literature
Ng Connie M CM Cheng Alan A Myers Loretha A LA Martinez-Murillo Francisco F Jie Chunfa C Bedja Djahida D Gabrielson Kathleen L KL Hausladen Jennifer M W JM Mecham Robert P RP Judge Daniel P DP Dietz Harry C HC
The Journal of clinical investigation 20041201 11
Mitral valve prolapse (MVP) is a common human phenotype, yet little is known about the pathogenesis of this condition. MVP can occur in the context of genetic syndromes, including Marfan syndrome (MFS), an autosomal-dominant connective tissue disorder caused by mutations in fibrillin-1. Fibrillin-1 contributes to the regulated activation of the cytokine TGF-beta, and enhanced signaling is a consequence of fibrillin-1 deficiency. We thus hypothesized that increased TGF-beta signaling may contribu ...[more]