Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
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
Antisense oligonucleotide therapy mitigates autosomal dominant progressive hearing loss in a murine model of human DFNA2.
Jang SH et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Hearing loss secondary to novel variants of the KCNQ4 gene.
González-Aguado R et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2025
KCNQ4 c.546C>G variant is associated with early-onset high-frequency hearing loss, tinnitus, and cardiovascular comorbidities in Taiwanese adults.
Wu KL et al.
Scientific Reports, 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
Common genetic etiologies of sensorineural hearing loss in Koreans.
Jang SH et al.
Genomics & Informatics, 2024
Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model.
Zhang X et al.
The Laryngoscope, 2024
Advances in cochlear gene therapies.
Klimara MJ et al.
Current Opinion in Pediatrics, 2023
Valproic Acid Inhibits Progressive Hereditary Hearing Loss in a KCNQ4 Variant Model through HDAC1 Suppression.
Nam YS et al.
International Journal of Molecular Sciences, 2023
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
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model.
Noh B et al.
Theranostics, 2022
A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population.
Yen TT et al.
Genes, 2021
Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
Lee SY et al.
Experimental & Molecular Medicine, 2021
Assistance for Folding of Disease-Causing Plasma Membrane Proteins.
Juarez-Navarro K et al.
Biomolecules, 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
Indispensable Role of Ion Channels and Transporters in the Auditory System.
Mittal R et al.
Journal of Cellular Physiology, 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
Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.
Runge CL et al.
Jama Otolaryngology-- Head & Neck Surgery, 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
A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family.
Uehara DT et al.
Human Genome Variation, 2015
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
Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss.
Gao Y et al.
Journal of Cellular and Molecular Medicine, 2013
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
Distinct roles of molecular chaperones HSP90α and HSP90β in the biogenesis of KCNQ4 channels.
Gao Y et al.
Plos One, 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
Restoration of ion channel function in deafness-causing KCNQ4 mutants by synthetic channel openers.
Leitner MG et al.
British Journal of Pharmacology, 2012
In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss.
Namba K et al.
Bmc Research Notes, 2012
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.
Usami S et al.
Plos One, 2012
Genetics of hearing loss: focus on DFNA2.
Dominguez LM et al.
The Application of Clinical Genetics, 2012
KCNQ4 K(+) channels tune mechanoreceptors for normal touch sensation in mouse and man.
Heidenreich M et al.
Nature Neuroscience, 2011
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 successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.
de Heer AM et al.
The Annals of Otology, Rhinology, and Laryngology, 2011
Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2.
Kim HJ et al.
The Journal of Biological Chemistry, 2011
KV7 channelopathies.
Maljevic S et al.
Pflugers Archiv : European Journal of Physiology, 2010
Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.
Topsakal V et al.
Audiology & Neuro-otology, 2010
Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.
Hilgert N et al.
Journal of Human Genetics, 2009