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Article

Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.

Molecular and cellular endocrinology - 4 Apr 2012

Cirello Valentina, Bazzini Claudia, Vezzoli Valeria, Muzza Marina, Rodighiero Simona, Castorina Pierangela, Maffini Antonia, Bottà Guido, Persani Luca, Beck-Peccoz Paolo, Meyer Giuliano, Fugazzola Laura

Abstract excerpt

Patients with PS or non-syndromic deafness were submitted to genetic/functional analyzes of SLC26A4, of its binding domain for FOXI1 (FOXI1-DBD), of the transcription activator FOXI1, and of the potassium channel KCNJ10. SLC26A4 was the most frequently mutated gene. An altered intracellular localization with immunocytochemistry, and a hampered maturation process were demonstrated for two novel SLC26A4 variants....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22285650
DOI: 10.1016/j.mce.2012.01.013

Genes

FOXI1
KCNJ10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.PMID 22285650Read ↗

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