Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Takahashi S et al.
International Journal of Molecular Sciences, 2024
Functional studies of deafness-associated pendrin and prestin variants.
Takahashi S et al.
Biorxiv : the Preprint Server for Biology, 2024
Mechanism of anion exchange and small-molecule inhibition of pendrin.
Wang L et al.
Nature Communications, 2024
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene.
Hu CJ et al.
Scientific Reports, 2021
Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.
Roesch S et al.
Audiology Research, 2021
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
Congenital Deafness and Recent Advances Towards Restoring Hearing Loss.
Renauld JM et al.
Current Protocols, 2021
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.
Wasano K et al.
Human Mutation, 2020
A knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation.
Wen Z et al.
Biochemical and Biophysical Research Communications, 2019
A role for TENM1 mutations in congenital general anosmia.
Alkelai A et al.
Clinical Genetics, 2016
Vestibular function is associated with residual low-frequency hearing loss in patients with bi-allelic mutations in the SLC26A4 gene.
Jung J et al.
Hearing Research, 2016
Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness.
Dror AA et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2014
Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice.
Lu YC et al.
Plos One, 2014
SLC26A4 mutations in patients with moderate to severe hearing loss.
Khan MR et al.
Biochemical Genetics, 2013
Mouse models for pendrin-associated loss of cochlear and vestibular function.
Wangemann P
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2013
Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology.
Lu YC et al.
Plos One, 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
Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.
Dror AA et al.
The Journal of Biological Chemistry, 2010