Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.

Pediatric nephrology (Berlin, Germany) - 1 May 2006

García-Nieto Víctor, Flores Carlos, Luis-Yanes Maria I, Gallego Eduardo, Villar Jesús, Claverie-Martín Félix

Abstract excerpt

Bartter syndrome (BS) is a heterogeneous group of autosomal recessive hypokalaemic salt-losing tubulopathies. Five types of BS caused by different genetic defects have been identified, and one of them is associated with sensorineural deafness (BSND). Mutations in the recently described BSND gene, mapped in chromosome 1p31, have been reported to be associated with BSND. This gene encodes barttin, an essential...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bartter Syndrome
Share to Chloride Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Hearing Loss, Sensorineural

Share to Membrane Proteins

Share to Mutation, Missense

Share to Pedigree

Source

Identifiers

PMID: 16572343
DOI: 10.1007/s00467-006-0062-1

Genes

BSND

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.PMID 16572343Read ↗

Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.Semantic proximity Read ↗

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.Semantic proximity Read ↗

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

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.Semantic proximity Read ↗

Disease-causing dysfunctions of barttin in Bartter syndrome type IV.Semantic proximity Read ↗

Functional BSND variants in essential hypertension.Semantic proximity Read ↗

Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.Semantic proximity Read ↗

A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.Semantic proximity Read ↗

Bartter's and Gitelman's syndromes: from gene to clinic.Semantic proximity Read ↗

A case of antenatal Bartter syndrome with sensorineural deafness.Semantic proximity Read ↗

Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.Semantic proximity Read ↗

Bartter syndrome: causes, diagnosis, and treatmentSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.