Article
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.
Journal of the American Society of Nephrology : JASN - 1 Aug 2018
Tan Adrian Y, Zhang Tuo, Michaeel Alber, Blumenfeld Jon, Liu Genyan, Zhang Wanying, Zhang Zhengmao, Zhu Yi, Rennert Lior, Martin Che, Xiang Jenny, Salvatore Steven P, Robinson Brian D, Kapur Sandip, Donahue Stephanie, Bobb Warren O, Rennert Hanna
Abstract excerpt
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a ciliopathy caused by mutations in PKD1 and PKD2 that is characterized by renal tubular epithelial cell proliferation and progressive CKD. Although the molecular mechanisms involved in cystogenesis are not established, concurrent inactivating constitutional and somatic mutations in ADPKD genes in cyst epithelium have been proposed as a cellular...
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