Article
The Link between Autosomal Dominant Polycystic Kidney Disease and Chromosomal Instability: Exploring the Relationship.
International journal of molecular sciences - 2 Mar 2024
Chen Phang-Lang, Chen Chi-Fen, Lin Hugo Y-H, Riley Daniel J, Chen Yumay
Abstract excerpt
In autosomal dominant polycystic kidney disease (ADPKD) with germline mutations in a PKD1 or PKD2 gene, innumerable cysts develop from tubules, and renal function deteriorates. Second-hit somatic mutations and renal tubular epithelial (RTE) cell death are crucial features of cyst initiation and disease progression. Here, we use established RTE lines and primary ADPKD cells with disease-associated PKD1 mutations...
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