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Items: 1 to 20 of 43

1.
Comprehensive pan‑cancer analysis of potassium voltage-gated channel Q4 (KCNQ4) gene across multiple human malignant tumors
Qing Zhao, Meizeng Li, Yunxiang Zhang
Sci Rep. 2023; 13: 18608. Published online 2023 Oct 30. doi: 10.1038/s41598-023-45074-7
PMCID:
PMC10616121
AbstractArticlePDF–13M
2.
Overlooked KCNQ4 variants augment the risk of hearing loss
Kyung Seok Oh, Jae Won Roh, Sun Young Joo, Kunhi Ryu, Jung Ah Kim, Se Jin Kim, Seung Hyun Jang, Young Ik Koh, Da Hye Kim, Hye-Youn Kim, Murim Choi, Jinsei Jung, Wan Namkung, Joo Hyun Nam, Jae Young Choi, Heon Yung Gee
Exp Mol Med. 2023 Apr; 55(4): 844–859. Published online 2023 Apr 3. doi: 10.1038/s12276-023-00976-4
PMCID:
PMC10167218
AbstractArticlePDF–7.7M
3.
KCNQ4 基因新突变耳聋患者的基因型表型相关性分析及遗传咨询
张 晓龙, 王 洪阳, 李 进, 李 丹阳, 武 凯丽, 吴 萧男, 王 秋菊
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023 Jan 3; 37(1): 25-30, 35. Chinese. doi: 10.13201/j.issn.2096-7993.2023.01.005
PMCID:
PMC10128352
AbstractArticlePDF–7.3M
4.
Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss
Takashi Kojima, Koichiro Wasano, Satoe Takahashi, Kazuaki Homma
Dis Model Mech. 2021 Nov 1; 14(11): dmm049015. Published online 2021 Nov 26. doi: 10.1242/dmm.049015
PMCID:
PMC8628632
AbstractArticle
5.
A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population
Ting-Ting Yen, I-Chieh Chen, Men-Wei Hua, Chia-Yi Wei, Kai-Hsiang Shih, Jui-Lin Li, Ching-Heng Lin, Tzu-Hung Hsiao, Yi-Ming Chen, Rong-San Jiang
Genes (Basel) 2021 Nov; 12(11): 1711. Published online 2021 Oct 27. doi: 10.3390/genes12111711
PMCID:
PMC8618107
AbstractArticlePDF–1.1M
6.
Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss
Sang-Yeon Lee, Hyun Been Choi, Mina Park, Il Soon Choi, Jieun An, Ami Kim, Eunku Kim, Nahyun Kim, Jin Hee Han, Min young Kim, Seung min Lee, Doo-Yi Oh, Bong Jik Kim, Nayoung Yi, Nayoung, K. D. Kim, Chung Lee, Woong-Yang Park, Young Ik Koh, Heon Yung Gee, Hyun Sung Cho, Tong Mook Kang, Byung Yoon Choi
Exp Mol Med. 2021 Jul; 53(7): 1192–1204. Published online 2021 Jul 28. doi: 10.1038/s12276-021-00653-4
PMCID:
PMC8333092
AbstractArticlePDF–2.7M
7.
A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non-syndromic deafness 2A
Qiong Li, Pengfei Liang, Shujuan Wang, Wei Li, Jian Wang, Yang Yang, Xiaogang An, Jun Chen, Dingjun Zha
Mol Med Rep. 2021 Jun; 23(6): 420. Published online 2021 Apr 1. doi: 10.3892/mmr.2021.12059
PMCID:
PMC8025472
AbstractArticlePDF–1.5M
8.
Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss
Memoona Ramzan, Hafiza Idrees, Ghulam Mujtaba, Nara Sobreira, P. Dane Witmer, Sadaf Naz
Gene. Author manuscript; available in PMC 2020 Dec 2.
Published in final edited form as: Gene. 2019 Jul 15; 705: 109–112. Published online 2019 Apr 24. doi: 10.1016/j.gene.2019.04.064
PMCID:
PMC7709079
AbstractArticlePDF–389K
9.
A Comparative Analysis of Genetic Hearing Loss Phenotypes in European/American and Japanese Populations
W. Daniel Walls, Hideaki Moteki, Taylor R. Thomas, Shin-ya Nishio, Hidekane Yoshimura, Yoichiro Iwasa, Kathy L. Frees, Carla J. Nishimura, Hela Azaiez, Kevin T. Booth, Robert J. Marini, Diana L. Kolbe, A. Monique Weaver, Amanda M. Schaefer, Kai Wang, Terry A. Braun, Shin-ichi Usami, Peter G. Barr-Gillespie, Guy P. Richardson, Richard J. Smith, Thomas L. Casavant
Hum Genet. Author manuscript; available in PMC 2021 Oct 1.
Published in final edited form as: Hum Genet. 2020 Oct; 139(10): 1315–1323. Published online 2020 May 7. doi: 10.1007/s00439-020-02174-y
PMCID:
PMC7487054
AbstractArticlePDF–1.1M
10.
Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment
Jinsei Jung, Haiyue Lin, Young Ik Koh, Kunhi Ryu, Joon Suk Lee, John Hoon Rim, Hye Ji Choi, Hak Joon Lee, Hye-Youn Kim, Seyoung Yu, Hyunsoo Jin, Ji Hyun Lee, Min Goo Lee, Wan Namkung, Jae Young Choi, Heon Yung Gee
Exp Mol Med. 2019 Aug; 51(8): 99. Published online 2019 Aug 21. doi: 10.1038/s12276-019-0300-9
PMCID:
PMC6802650
AbstractArticlePDF–3.4M
11.
A mutually induced conformational fit underlies Ca2+-directed interactions between calmodulin and the proximal C terminus of KCNQ4 K+ channels
Crystal R. Archer, Benjamin T. Enslow, Alexander B. Taylor, Victor De la Rosa, Akash Bhattacharya, Mark S. Shapiro
J Biol Chem. 2019 Apr 12; 294(15): 6094–6112. Published online 2019 Feb 26. doi: 10.1074/jbc.RA118.006857
PMCID:
PMC6463706
AbstractArticlePDF–4.8M
12.
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
Jinsei Jung, Hyun Been Choi, Young Ik Koh, John Hoon Rim, Hye Ji Choi, Sung Huhn Kim, Jae Hyun Lee, Jieun An, Ami Kim, Joon Suk Lee, Sun Young Joo, Seyoung Yu, Jae Young Choi, Tong Mook Kang, Heon Yung Gee
Sci Rep. 2018; 8: 16659. Published online 2018 Nov 9. doi: 10.1038/s41598-018-34876-9
PMCID:
PMC6226507
AbstractArticlePDF–3.6M
13.
Synergistic drug combinations for cancer identified in a CRISPR screen for pairwise genetic interactions
Kyuho Han, Edwin E. Jeng, Gaelen T. Hess, David W. Morgens, Amy Li, Michael C. Bassik
Nat Biotechnol. Author manuscript; available in PMC 2017 Sep 20.
Published in final edited form as: Nat Biotechnol. 2017 May; 35(5): 463–474. Published online 2017 Mar 20. doi: 10.1038/nbt.3834
PMCID:
PMC5557292
AbstractArticlePDF–3.4M
14.
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
Bangqing Huang, Yanping Liu, Xue Gao, Jincao Xu, Pu Dai, Qingwen Zhu, Yongyi Yuan
BMC Med Genet. 2017; 18: 36. Published online 2017 Mar 24. doi: 10.1186/s12881-017-0396-5
PMCID:
PMC5366164
AbstractArticlePDF–2.8M
15.
Synergistic interplay of Gβγ and phosphatidylinositol 4,5-bisphosphate dictates Kv7.4 channel activity
Oleksandr V. Povstyan, Vincenzo Barrese, Jennifer B Stott, Iain A Greenwood
Pflugers Arch. 2017; 469(2): 213–223. Published online 2016 Dec 15. doi: 10.1007/s00424-016-1916-4
PMCID:
PMC5222924
AbstractArticlePDF–3.0M
16.
Mechanisms of Calmodulin Regulation of Different Isoforms of Kv7.4 K+ Channels
Choong-Ryoul Sihn, Hyo Jeong Kim, Ryan L. Woltz, Vladimir Yarov-Yarovoy, Pei-Chi Yang, Jun Xu, Colleen E. Clancy, Xiao-Dong Zhang, Nipavan Chiamvimonvat, Ebenezer N. Yamoah
J Biol Chem. 2016 Jan 29; 291(5): 2499–2509. Published online 2015 Oct 29. doi: 10.1074/jbc.M115.668236
PMCID:
PMC4732230
AbstractArticlePDF–4.0M
17.
G-protein βγ subunits are positive regulators of Kv7.4 and native vascular Kv7 channel activity
Jennifer B. Stott, Oleksandr V. Povstyan, Georgina Carr, Vincenzo Barrese, Iain A. Greenwood
Proc Natl Acad Sci U S A. 2015 May 19; 112(20): 6497–6502. Published online 2015 May 4. doi: 10.1073/pnas.1418605112
PMCID:
PMC4443360
AbstractArticlePDF–1.2M
18.
Heterogeneity in Kv7 channel function in the Cerebral and Coronary Circulation
Sewon Lee, Yan Yang, Miles A. Tanner, Min Li, Michael A. Hill
Microcirculation. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: Microcirculation. 2015 Feb; 22(2): 109–121. doi: 10.1111/micc.12183
PMCID:
PMC4409830
AbstractArticlePDF–5.2M
19.
Role of Kv7 channels in responses of the pulmonary circulation to hypoxia
Vojtech Sedivy, Shreena Joshi, Youssef Ghaly, Roman Mizera, Marie Zaloudikova, Sean Brennan, Jana Novotna, Jan Herget, Alison M. Gurney
Am J Physiol Lung Cell Mol Physiol. 2015 Jan 1; 308(1): L48–L57. Published online 2014 Oct 31. doi: 10.1152/ajplung.00362.2013
PMCID:
PMC4281702
AbstractArticle
20.
Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss
Hongyang Wang, Yali Zhao, Yuting Yi, Yun Gao, Qiong Liu, Dayong Wang, Qian Li, Lan Lan, Na Li, Jing Guan, Zifang Yin, Bing Han, Feifan Zhao, Liang Zong, Wenping Xiong, Lan Yu, Lijie Song, Xin Yi, Ling Yang, Christine Petit, Qiuju Wang
PLoS One. 2014; 9(8): e103133. Published online 2014 Aug 12. doi: 10.1371/journal.pone.0103133
PMCID:
PMC4130520
AbstractArticlePDF–735K

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