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Article

Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2011

Dossena Silvia, Nofziger Charity, Brownstein Zippora, Kanaan Moien, Avraham Karen B, Paulmichl Markus

Abstract excerpt

BACKGROUND: Pendrin is a transport protein exchanging chloride for other anions, such as iodide in the thyroid gland or bicarbonate in the inner ear. Mutations in the SLC26A4 gene encoding for pendrin are responsible for both syndromic (Pendred syndrome) and non-syndromic (non-syndromic enlarged vestibular aqueduct, EVA) hearing loss. Besides clinical and radiological assessments, molecular and functional studies...

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Identifiers

PMID: 22116360
DOI: 10.1159/000335109
PMCID: PMC3709187

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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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Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.PMID 22116360Read ↗

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Genetics and phenomics of Pendred syndrome.Semantic proximity Read ↗

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.Semantic proximity Read ↗

Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.Semantic proximity Read ↗

Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid HypoplasiaSemantic proximity Read ↗

SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report.Semantic proximity Read ↗

Functional studies of deafness-associated pendrin and prestin variantsSemantic proximity Read ↗

[Current status and perspectives of the research in Pendred syndrome].Semantic proximity Read ↗

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.Semantic proximity Read ↗

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