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Article

Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.

Human molecular genetics - 9 Jul 2021

Durán Mónica, Burballa Carla, Cantero-Recasens Gerard, Butnaru Cristian M, Malhotra Vivek, Ariceta Gema, Sarró Eduard, Meseguer Anna

Abstract excerpt

Dent disease 1 (DD1) is a rare X-linked renal proximal tubulopathy characterized by low molecular weight proteinuria and variable degree of hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressing to chronic kidney disease. Although mutations in the electrogenic Cl-/H+ antiporter ClC-5, which impair endocytic uptake in proximal tubule cells, cause the disease, there is poor genotype-phenotype...

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Identifiers

PMID: 33987651
DOI: 10.1093/hmg/ddab131
PMCID: PMC8283206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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