Associated Papers
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
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
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ et al.
Medicine, 2015
SLC26A4 mutations in patients with moderate to severe hearing loss.
Khan MR et al.
Biochemical Genetics, 2013
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
The responsible genes in Japanese deafness patients and clinical application using Invader assay.
Usami S et al.
Acta Oto-laryngologica, 2008
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
Gardner P et al.
Pediatrics, 2006
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
Albert S et al.
European Journal of Human Genetics : Ejhg, 2006
Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.
Dossena S et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2006
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Blons H et al.
Clinical Genetics, 2004
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
Prasad S et al.
American Journal of Medical Genetics. Part A, 2004
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
Tsukamoto K et al.
European Journal of Human Genetics : Ejhg, 2003
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
Campbell C et al.
Human Mutation, 2001
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
Scott DA et al.
Human Molecular Genetics, 2000