Associated Papers
Genetic Diagnosis and Discovery Enabled by Large Language Models.
Tu T et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
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
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 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
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
Neurocardiac pathologies associated with potassium channelopathies.
Singh V et al.
Epilepsia, 2024
Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model.
Zhang X et al.
The Laryngoscope, 2024
De novo variants are a common cause of genetic hearing loss.
Klimara MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 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
VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss.
Peng J et al.
Human Mutation, 2021
Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.
Kojima T et al.
Disease Models & Mechanisms, 2021
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 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
A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A.
Li Q et al.
Molecular Medicine Reports, 2021
Kv2.1 voltage-gated potassium channels in developmental perspective.
Jędrychowska J et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2019
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Function and Dysfunction of TMC Channels in Inner Ear Hair Cells.
Corey DP et al.
Cold Spring Harbor Perspectives in Medicine, 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
Inner Hair Cell and Neuron Degeneration Contribute to Hearing Loss in a DFNA2-Like Mouse Model.
Carignano C et al.
Neuroscience, 2019
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.
Jung J et al.
Scientific Reports, 2018
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM et al.
Human Mutation, 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
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
KCNQ4 K(+) channels tune mechanoreceptors for normal touch sensation in mouse and man.
Heidenreich M et al.
Nature Neuroscience, 2011
Gene localization in a Chinese family with autosomal dominant non-syndromic deafness.
Jiang L et al.
Acta Oto-laryngologica, 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
Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2.
Kim HJ et al.
The Journal of Biological Chemistry, 2011