Associated Papers
Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Takahashi S et al.
International Journal of Molecular Sciences, 2024
Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.
Li YQ et al.
Bmc Medical Genomics, 2024
Functional studies of deafness-associated pendrin and prestin variants.
Takahashi S et al.
Biorxiv : the Preprint Server for Biology, 2024
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family.
Wu T et al.
Bmc Medical Genomics, 2022
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
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.
Wasano K et al.
Human Mutation, 2020
SNaPshot reveals high mutation and carrier frequencies of 15 common hearing loss mutants in a Chinese newborn cohort.
Chen Y et al.
Clinical Genetics, 2015
Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings.
Chen J et al.
International Journal of Audiology, 2013
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.
Li Q et al.
Journal of Translational Medicine, 2012
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
SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss.
Dai P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008
[Frequency of SLC26A4 IVS7-2A > G mutation in patients with severe to profound hearing loss from different area and ethnic group in China].
Li Q et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2007
[Genetic counseling and instruction for deaf couples directed by genetic testing].
Han B et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2007