Article
Molecular genetics of renal ciliopathies.
Biochemical Society transactions - 30 Jun 2021
Barroso-Gil Miguel, Olinger Eric, Sayer John A
Abstract excerpt
Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to progressive chronic kidney disease and end-stage kidney disease. The renal tubules are lined with epithelial cells that possess primary cilia that project into the lumen and act as sensory and signalling organelles. Mutations in genes...
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