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
The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.
Homma K
Biomedicines, 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
In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model.
Noh B et al.
Theranostics, 2022
35265220 (PubMed )
Supplement: thnov12p2465s2.xlsx › Table_S4
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
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
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 Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.
Iwasa YI et al.
Plos One, 2016
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
[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
Select a paper to view details