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
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.
Hu SW et al.
Nature Communications, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 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
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL et al.
Nature Communications, 2022
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
Genetic background in late-onset sensorineural hearing loss patients.
Uehara N et al.
Journal of Human Genetics, 2022
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 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
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.
Shin DH et al.
Human Mutation, 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
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
Mechanisms of Calmodulin Regulation of Different Isoforms of Kv7.4 K+ Channels.
Sihn CR et al.
The Journal of Biological Chemistry, 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
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
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
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
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
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
Potassium channels: molecular defects, diseases, and therapeutic opportunities.
Shieh CC et al.
Pharmacological Reviews, 2000
Neuronal KCNQ potassium channels: physiology and role in disease.
Jentsch TJ
Nature Reviews. Neuroscience, 2000
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.
Van Hauwe P et al.
American Journal of Medical Genetics, 2000
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
Coucke PJ et al.
Human Molecular Genetics, 1999