Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
A KCNQ4 Gene Variant (c.701A > G; p.His234Arg) in a Chinese Family With Nonsyndromic Deafness 2A.
Gong GQ et al.
Molecular Genetics & Genomic Medicine, 2025
The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.
Homma K
Biomedicines, 2022
Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.
Zheng H et al.
Genome Research, 2022
A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.
Cui C et al.
Clinical Genetics, 2022
Molecular basis and restoration of function deficiencies of Kv7.4 variants associated with inherited hearing loss.
Xia X et al.
Hearing Research, 2020
Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment.
Jung J et al.
Experimental & Molecular Medicine, 2019
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.
Jung J et al.
Scientific Reports, 2018
Absence of KCNQ4 mutation in Bengali families with ADNSHL originated from West Bengal, India.
Adhikary B et al.
International Journal of Pediatric Otorhinolaryngology, 2017
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
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
Genetics of hearing loss: focus on DFNA2.
Dominguez LM et al.
The Application of Clinical Genetics, 2012
Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology.
Baek JI et al.
Biochimica Et Biophysica Acta, 2011
Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.
Hildebrand MS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008
[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