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Article

Can we generate new hypotheses about Dent's disease from gene analysis of a mouse model?

Experimental physiology - 1 Feb 2009

Guggino Sandra E

Abstract excerpt

In humans, Dent's disease, an X-linked renal tubular disorder, is characterized by low molecular weight proteinuria, aminoaciduria, glycosuria, hyperphosphaturia, hypercalciuria, nephrolithiasis, progressive renal failure and sometimes rickets or osteomalacia. The aetiology of X-linked Dent's disease is established to be caused by mutations of the CLCN5 gene. The protein product of this gene is the voltage-gated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18931044
DOI: 10.1113/expphysiol.2008.044586

Genes

CLC
CLCN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Can we generate new hypotheses about Dent's disease from gene analysis of a mouse model?PMID 18931044Read ↗

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From protein uptake to Dent disease: An overview of the CLCN5 gene.Semantic proximity Read ↗

Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies.Semantic proximity Read ↗

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

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Renal Cl-/H+ antiporter ClC-5 regulates collagen production and release in Dent Disease modelsSemantic proximity Read ↗

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