Article

Global gene-expression analysis reveals the molecular processes underlying ClC-5 loss-of-function in novel Dent Disease 1 cellular models

2020-12-16

Abstract excerpt

Dent disease 1 (DD1) is a rare X-linked renal proximal tubulopathy characterized by low molecular weight proteinuria (LMWP) and variable degree of hypercalciuria, nephrocalcinosis and/or nephrolithiasis with progression to chronic kidney disease (CKD). Although loss-of-function mutations in the gene CLCN5 encoding the electrogenic Cl − /H + antiporter ClC-5, which impair endocytic uptake in proximal tubule cell...

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Literature Corpus work: f8eb3346-1815-5eb3-8646-206e9ec94b15
DOI: 10.1101/2020.12.16.423143

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