PMC Links for GEO Profiles (Select 131957567) - PMC

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

Abstract Article PDF–7.7M

Select item 101283524.

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

Abstract Article PDF–7.3M

Select item 94357485.

Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4

Honglan Zheng, Xinhao Yan, Guanluan Li, Hengwei Lin, Siqi Deng, Wenhui Zhuang, Fuqiang Yao, Yu Lu, Xin Xia, Huijun Yuan, Li Jin, Zhiqiang Yan

Genome Res. 2022 Aug; 32(8): 1573–1584. doi: 10.1101/gr.276562.122

PMCID:: PMC9435748

Abstract Article PDF–8.5M

Select item 86286326.

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

Abstract Article

Select item 86181077.

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

Abstract Article PDF–1.1M

Select item 83330928.

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

Abstract Article PDF–2.7M

Select item 80254729.

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

Abstract Article PDF–1.5M

Select item 770907910.

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

Abstract Article PDF–389K

Select item 748705411.

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

Abstract Article PDF–1.1M

Select item 680265012.

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

Abstract Article PDF–3.4M

Select item 646370613.

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

Abstract Article PDF–4.8M

Select item 622650714.

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

Abstract Article PDF–3.6M

Select item 555729215.

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

Abstract Article PDF–3.4M

Select item 536616416.

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

Abstract Article PDF–2.8M

Select item 522292417.

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

Abstract Article PDF–3.0M

Select item 473223018.

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

Abstract Article PDF–4.0M

Select item 444336019.

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

Abstract Article PDF–1.2M

Select item 440983020.

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

Abstract Article PDF–5.2M

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