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Article

Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.

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

Dossena Silvia, Bizhanova Aigerim, Nofziger Charity, Bernardinelli Emanuele, Ramsauer Josef, Kopp Peter, Paulmichl Markus

Abstract excerpt

BACKGROUND: Pendrin is a multifunctional anion transporter that exchanges chloride and iodide in the thyroid, as well as chloride and bicarbonate in the inner ear, kidney and airways. Loss or reduction in the function of pendrin results in both syndromic (Pendred syndrome) and non-syndromic (non-syndromic enlarged vestibular aqueduct (ns-EVA)) hearing loss. Factors inducing an up-regulation of pendrin in the...

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Identifiers

PMID: 22116359
DOI: 10.1159/000335108
PMCID: PMC3709191

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Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.PMID 22116359Read ↗

Molecular and functional characterization of human pendrin and its allelic variants.Semantic proximity Read ↗

Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.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 mutated pendrin (SLC26A4), the anion transporter involved 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 ↗

Pendred syndrome.Semantic proximity Read ↗

Clinical and molecular characteristics of Pendred syndrome.Semantic proximity Read ↗

Genetics and phenomics of Pendred syndrome.Semantic proximity Read ↗

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.Semantic proximity Read ↗

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.Semantic proximity Read ↗

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

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?Semantic proximity Read ↗

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