Associated Papers
Pathogenic Mechanism of the KCNQ4 Gene Variant in Hearing Loss and Functional Validation in a Zebrafish Model.
Jia H et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.
Zheng H et al.
Genome Research, 2022
Genetic background in late-onset sensorineural hearing loss patients.
Uehara N et al.
Journal of Human Genetics, 2022
Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.
Kojima T et al.
Disease Models & Mechanisms, 2021
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.
Huang B et al.
Bmc Medical Genetics, 2017
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
Sakuma N et al.
Journal of Human Genetics, 2016
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
Mori K et al.
Plos One, 2016
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.
Iwasa YI et al.
Plos One, 2016
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Eisenberger T et al.
Human Mutation, 2014
Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.
Wang H et al.
Plos One, 2014
Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix.
Watabe T et al.
Biochemical and Biophysical Research Communications, 2013
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T et al.
Plos One, 2013
Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).
Topsakal V et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2005
[KCNQ4 gene mutations affected a pedigree with autosomal dominant hereditary hearing loss].
Wang Q et al.
Zhonghua Er Bi Yan Hou Ke Za Zhi, 2002