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Article

Disease-causing dysfunctions of barttin in Bartter syndrome type IV.

Journal of the American Society of Nephrology : JASN - 1 Jan 2009

Janssen Audrey G H, Scholl Ute, Domeyer Constanze, Nothmann Doreen, Leinenweber Ariane, Fahlke Christoph

Abstract excerpt

Bartter syndrome type IV is an inherited human condition characterized by severe renal salt wasting and sensorineural deafness. The causal gene, BSND, encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Barttin modulates the stability, cell surface localization, and function of ClC-K channels; distinct mutations cause phenotypes of varying severity. For definition of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18776122
DOI: 10.1681/ASN.2008010102
PMCID: PMC2615720

Genes

BSND

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.

Related research

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Disease-causing dysfunctions of barttin in Bartter syndrome type IV.PMID 18776122Read ↗

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Barttin modulates trafficking and function of ClC-K channels.Semantic proximity Read ↗

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Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.Semantic proximity Read ↗

Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene.Semantic proximity Read ↗

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Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.Semantic proximity Read ↗

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