Article
Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.
Human molecular genetics - 1 Aug 2002
Wu Guanqing, Tian Xin, Nishimura Sayoko, Markowitz Glen S, D'Agati Vivette, Park Jong Hoon, Yao Lili, Li Li, Geng Lin, Zhao Hongyu, Edelmann Winfried, Somlo Stefan
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) occurs by germline mutation in PKD1 or PKD2. Evidence of homozygous inactivation of either gene in human cyst lining cells as well as in mouse knockout models strongly supports a two-hit mechanism for cyst formation. Discovery of trans-heterozygous mutations in PKD1 and PKD2 in a minority of human renal cysts has led to the proposal that such mutations also can...
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