Article
A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease.
Journal of the American Society of Nephrology : JASN - 1 Jan 2014
Liu Dongyan, Wang Connie J, Judge Daniel P, Halushka Marc K, Ni Jie, Habashi Jennifer P, Moslehi Javid, Bedja Djahida, Gabrielson Kathleen L, Xu Hangxue, Qian Feng, Huso David, Dietz Harry C, Germino Gregory G, Watnick Terry
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of renal failure that is due to mutations in two genes, PKD1 and PKD2. Vascular complications, including aneurysms, are a well recognized feature of ADPKD, and a subgroup of families exhibits traits reminiscent of Marfan syndrome (MFS). MFS is caused by mutations in fibrillin-1 (FBN1), which encodes an extracellular matrix protein with...
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