| Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model. | Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model.
Zhang X, Shi T, Li J, Wu X, Wu K, Li D, Wang D, Guan J, Wang H. | 04/17/2024 |
| Comprehensive pan-cancer analysis of potassium voltage-gated channel Q4 (KCNQ4) gene across multiple human malignant tumors. | Comprehensive pan‑cancer analysis of potassium voltage-gated channel Q4 (KCNQ4) gene across multiple human malignant tumors.
Zhao Q, Li M, Zhang Y., Free PMC Article | 11/1/2023 |
| Overlooked KCNQ4 variants augment the risk of hearing loss. | Overlooked KCNQ4 variants augment the risk of hearing loss.
Oh KS, Roh JW, Joo SY, Ryu K, Kim JA, Kim SJ, Jang SH, Koh YI, Kim DH, Kim HY, Choi M, Jung J, Namkung W, Nam JH, Choi JY, Gee HY., Free PMC Article | 08/25/2023 |
| [The genotype-phenotype correlation analysis and genetic counseling of hearing loss patients with novel KCNQ4 mutations]. | [The genotype-phenotype correlation analysis and genetic counseling of hearing loss patients with novel KCNQ4 mutations].
Zhang X, Wang H, Li J, Li D, Wu K, Wu X, Wang Q., Free PMC Article | 01/11/2023 |
| A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family. | A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.
Cui C, Zhang L, Qian F, Chen Y, Huang B, Wang F, Wang D, Lv J, Wang X, Yan Z, Guo L, Li GL, Shu Y, Liu D, Li H. | 07/16/2022 |
| Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss. | Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.
Kojima T, Wasano K, Takahashi S, Homma K., Free PMC Article | 04/9/2022 |
| Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss. | Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
Lee SY, Choi HB, Park M, Choi IS, An J, Kim A, Kim E, Kim N, Han JH, Kim MY, Lee SM, Oh DY, Kim BJ, Yi N, Kim NKD, Lee C, Park WY, Koh YI, Gee HY, Cho HS, Kang TM, Choi BY., Free PMC Article | 04/2/2022 |
| A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population. | A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population.
Yen TT, Chen IC, Hua MW, Wei CY, Shih KH, Li JL, Lin CH, Hsiao TH, Chen YM, Jiang RS., Free PMC Article | 02/19/2022 |
| A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with nonsyndromic deafness 2A. | A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A.
Li Q, Liang P, Wang S, Li W, Wang J, Yang Y, An X, Chen J, Zha D., Free PMC Article | 10/23/2021 |
| Molecular basis and restoration of function deficiencies of Kv7.4 variants associated with inherited hearing loss. | Molecular basis and restoration of function deficiencies of Kv7.4 variants associated with inherited hearing loss.
Xia X, Zhang Q, Jia Y, Shu Y, Yang J, Yang H, Yan Z. | 06/5/2021 |
| Structural Basis for the Modulation of Human KCNQ4 by Small-Molecule Drugs. | Structural Basis for the Modulation of Human KCNQ4 by Small-Molecule Drugs.
Li T, Wu K, Yue Z, Wang Y, Zhang F, Shen H. | 02/2/2021 |
| A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. | A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Walls WD, Moteki H, Thomas TR, Nishio SY, Yoshimura H, Iwasa Y, Frees KL, Nishimura CJ, Azaiez H, Booth KT, Marini RJ, Kolbe DL, Weaver AM, Schaefer AM, Wang K, Braun TA, Usami SI, Barr-Gillespie PG, Richardson GP, Smith RJ, Casavant TL., Free PMC Article | 09/26/2020 |
| In 3 families with hearing impairment, whole exome sequencing revealed 3 novel variants in KCNQ4, LHFPL5 and COCH genes. The KCNQ4 gene (DFNA2A) encodes a potassium channel (KV7.4) and the heterozygous variant identified (c.1647C>G, p.F549L) resulted in the substitution of Phe549 residing in the KV7.4 cytoplasmic region. | Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.
Mehregan H, Mohseni M, Akbari M, Jalalvand K, Arzhangi S, Nikzat N, Kahrizi K, Najmabadi H. | 07/25/2020 |
| The mutant allele A of rs4660470 in KCNQ4 may be a risk factor for developing noise-induced hearing loss | [Prediction of KCNQ4gene polymorphism varies with CNE or noise exposure duration on the Risk of NIHL-Cox model analysis based on cohort study].
Zhou WH, Gu GZ, Wu H, Li YH, Chen GS, Zhang HL, Yu SF, Zheng YX. | 07/11/2020 |
| KCNQ4 variants may contribute more to late-onset Non-Syndromic Hearing Loss (NSHL) than expected, and therefore, genetic screening for this gene is important for the prevention and treatment of NSHL. | Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment.
Jung J, Lin H, Koh YI, Ryu K, Lee JS, Rim JH, Choi HJ, Lee HJ, Kim HY, Yu S, Jin H, Lee JH, Lee MG, Namkung W, Choi JY, Gee HY., Free PMC Article | 05/30/2020 |
| Distinct functional domains were identified that confer differential sensitivities of Kv7.4 and Kv7.5 to stimulatory and inhibitory signaling. | Structural Determinants of Kv7.5 Potassium Channels That Confer Changes in Phosphatidylinositol 4,5-Bisphosphate (PIP(2)) Affinity and Signaling Sensitivities in Smooth Muscle Cells.
Brueggemann LI, Cribbs LL, Byron KL. | 04/25/2020 |
| The c.140T>C (p.Leu47Pro) mutation in KCNQ4 causes progressive nonsyndromic hearing loss. | A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.
Shin DH, Jung J, Koh YI, Rim JH, Lee JS, Choi HJ, Joo SY, Yu S, Cha DH, Lee SY, Lee JH, Lee MG, Choi JY, Gee HY. | 03/28/2020 |
| Mutation in KCNQ4 gene is associated with nonsyndromic hearing loss. | Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.
Jung J, Choi HB, Koh YI, Rim JH, Choi HJ, Kim SH, Lee JH, An J, Kim A, Lee JS, Joo SY, Yu S, Choi JY, Kang TM, Gee HY., Free PMC Article | 12/21/2019 |
| findings suggest that in response to increased Ca(2+), CaM undergoes lobe switching that imposes a dramatic mutually induced conformational fit to both the proximal C terminus of KCNQ4 channels and CaM, likely underlying Ca(2+)-dependent regulation of KCNQ gating. | A mutually induced conformational fit underlies Ca(2+)-directed interactions between calmodulin and the proximal C terminus of KCNQ4 K(+) channels.
Archer CR, Enslow BT, Taylor AB, De la Rosa V, Bhattacharya A, Shapiro MS., Free PMC Article | 10/19/2019 |
| Results indicate that the KCNQ4 variant p.(Pro291Leu) causes early onset, progressive hearing loss in homozygous individuals and late onset, progressive mild to moderate hearing loss when inherited in a heterozygous state. It suggests that the same variant may affect the severity of the phenotype as well as the age of onset in mono-allelic or bi-allelic forms. | Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss.
Ramzan M, Idrees H, Mujtaba G, Sobreira N, Witmer PD, Naz S., Free PMC Article | 06/15/2019 |
| Results show that rs4660468 T allele of KCNQ4 involves with a higher risk of noise-induced hearing loss (NIHL) and it could be one biomarker of susceptibility for Chinese noise exposed workers. Furthermore, genetic variations of KCNQ4 and noise exposure jointly contribute to the NIHL risks by gene-environment interactions. | Genetic variation in KCNQ4 gene is associated with susceptibility to noise-induced hearing loss in a Chinese population.
Guo H, Ding E, Sheng R, Cheng J, Cai W, Guo J, Wang N, Zhang H, Zhu B. | 01/12/2019 |
| KCNQ4 gene polymorphisms associated with susceptibility to noise-induced hearing loss. | [The genetic aspects of occupational hearing impairment].
Krasitskaya VV, Bashmakova EE, Dobretsov KG, Orlova NV, Frank LA. | 03/17/2018 |
| mutations in KCNQ4 gene are unlikely to be a major causative factor of ADNSHL in our studied patients from West Bengal, India, pointing to other genes might be responsible for ADNSHL in our studied patients | Absence of KCNQ4 mutation in Bengali families with ADNSHL originated from West Bengal, India.
Adhikary B, Bankura B, Biswas S, Paul S, Das M. | 10/7/2017 |
| The fundamental processes that dictate Kv7.4 activity. | Synergistic interplay of Gβγ and phosphatidylinositol 4,5-bisphosphate dictates Kv7.4 channel activity.
Povstyan OV, Barrese V, Stott JB, Greenwood IA., Free PMC Article | 08/26/2017 |
| A novel KCNQ4 mutation, c.887 G > A (p.G296D), was identified in all five affected members in a Chinese family with autosomal dominant non-syndromic deafness 2. This mutation leads to a glycine-to-aspartic acid substitution at position 296 in the pore region of the KCNQ4 channel. | 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, Liu Y, Gao X, Xu J, Dai P, Zhu Q, Yuan Y., Free PMC Article | 05/20/2017 |