Associated Papers
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 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
35760561 (PubMed )
Supplement: supp_gr.276562.122_Supplemental_Dataset.xlsx › Supplemental_Dataset_C
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
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
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
30413759 (PubMed )
Supplement: 41598_2018_34876_MOESM1_ESM.pdf
Indispensable Role of Ion Channels and Transporters in the Auditory System.
Mittal R et al.
Journal of Cellular Physiology, 2017
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
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