Associated Papers
Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss.
Joo SY 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
Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.
Li J et al.
Heliyon, 2024
Case report: Germline RECQL mutation potentially involved in hereditary predisposition to acute leukemia.
Yuan W et al.
Frontiers in Oncology, 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
Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot.
Pan Y et al.
Journal of Thoracic Disease, 2022
Subtype-specific responses of hKv7.4 and hKv7.5 channels to polyunsaturated fatty acids reveal an unconventional modulatory site and mechanism.
Frampton DJA et al.
Elife, 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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
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
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.
Truong BT et al.
Clinical Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.
Jung J et al.
Scientific Reports, 2018
Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing.
Lin XF et al.
Molecular Medicine 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
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
Wu H et al.
Plos One, 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
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
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
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
Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2.
Kim HJ et al.
The Journal of Biological Chemistry, 2011
KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.
Nie L
Current Opinion in Otolaryngology & Head and Neck Surgery, 2008
A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.
Mencía A et al.
Human Genetics, 2008
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.
Su CC et al.
Audiology & Neuro-otology, 2007
[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