Article
Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.
Journal of the American Society of Nephrology : JASN - 1 Dec 2021
Zhang Zhengmao, Bai Hanwen, Blumenfeld Jon, Ramnauth Andrew B, Barash Irina, Prince Martin, Tan Adrian Y, Michaeel Alber, Liu Genyan, Chicos Ines, Rennert Lior, Giannakopoulos Stavros, Larbi Karen, Hughes Stuart, Salvatore Steven P, Robinson Brian D, Kapur Sandip, Rennert Hanna
Abstract excerpt
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of multiple cysts in the kidneys. It is often caused by pathogenic mutations in PKD1 and PKD2 genes that encode polycystin proteins. Although the molecular mechanisms for cystogenesis are not established, concurrent inactivating germline and somatic mutations in PKD1 and PKD2 have been...
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