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A <i>C. elegans</i> model for functional analysis of ADPKD variants in cilia, extracellular vesicles, and sensory signaling

2026-04-15

Abstract excerpt

Interpreting the pathogenic significance of missense variants in human disease gene candidates remains a major challenge in precision medicine. Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of kidney failure and caused by mutations in the PKD1 or PKD2 genes that encode polycystin-1 and polycystin-2. Here, we establish C. elegans as a platform for the functional classificati...

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Identifiers and source

Literature Corpus work
93bc3428-f650-5476-9c49-d82bee0c9c69
DOI
10.64898/2026.04.14.718433
Open publication

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A <i>C. elegans</i> model for functional analysis of ADPKD variants in cilia, extracellular vesicles, and sensory signalingDOI 10.64898/2026.04.14.718433
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