Showing Results for
- Academic Journals (9)
Search Results
- 9
Academic Journals
- 9
-
From:Nature Medicine (Vol. 19, Issue 4) Peer-ReviewedAutosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder characterized by bilateral renal cyst formation (1). Recent identification of signaling cascades deregulated in ADPKD has led to the...
-
From:PLoS ONE (Vol. 5, Issue 9) Peer-ReviewedMutations in PKD1, the gene encoding for the receptor Polycystin-1 (PC-1), cause autosomal dominant polycystic kidney disease (ADPKD). The cytoplasmic C-terminus of PC-1 contains a coiled-coil domain that mediates an...
-
From:PLoS ONE (Vol. 5, Issue 8) Peer-ReviewedAutosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder resulting in large kidney cysts and eventual kidney failure. Mutations in either the PKD1 or PKD2/TRPP2 genes and their respective protein...
-
From:PLoS ONE (Vol. 4, Issue 9) Peer-ReviewedPolycystin-1 (PC-1), the product of the PKD1 gene, mutated in the majority of cases of Autosomal Dominant Polycystic Kidney Disease (ADPKD), is a very large (~520 kDa) plasma membrane receptor localized in several...
-
From:Nature (Vol. 408, Issue 6815) Peer-ReviewedAuthor(s): Kazushige Hanaoka [1, 2]; Feng Qian [2, 3]; Alessandra Boletta [2, 3]; Anil K. Bhunia [3]; Klaus Piontek [3]; Leonidas Tsiokas [4]; Vikas P. Sukhatme [5]; William B. Guggino (corresponding author) [1];...
-
From:PathoGenetics (Vol. 2) Peer-ReviewedAuthors: Alessandra Boletta (corresponding author) [1] ADPKD: genetics and proposed mechanisms of cystogenesis Autosomal dominant polycystic kidney disease (ADPKD) is a frequent genetic disease, affecting between...