Associated Papers
Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct.
Zhuang B et al.
The Laryngoscope, 2025
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
37230976 (PubMed )
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Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model.
Hu CJ et al.
International Journal of Molecular Sciences, 2021
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.
Li M et al.
Nature Communications, 2020
Homology of pendrin, sodium-iodide symporter and apical iodide transporter.
Benvenga S et al.
Frontiers in Bioscience (landmark Edition), 2018
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
Bassot C et al.
Biochimie, 2017
Mis-trafficking of bicarbonate transporters: implications to human diseases.
Almomani EY et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2011
Molecular and functional characterization of human pendrin and its allelic variants.
Dossena S et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011
Salicylate restores transport function and anion exchanger activity of missense pendrin mutations.
Ishihara K et al.
Hearing Research, 2010
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.
Dossena S et al.
Journal of Molecular Endocrinology, 2009
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.
Dai P et al.
Journal of Translational Medicine, 2008
Heterogeneity in the processing defect of SLC26A4 mutants.
Yoon JS et al.
Journal of Medical Genetics, 2008
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.
Park HJ et al.
Clinical Genetics, 2005
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