A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease
D Liu, CJ Wang, DP Judge, MK Halushka… - Journal of the …, 2014 - journals.lww.com
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 homology to latent TGF-β binding
proteins. It was recently demonstrated that fibrillin-1 deficiency is associated with …
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 homology to latent TGF-β binding
proteins. It was recently demonstrated that fibrillin-1 deficiency is associated with …