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Items: 1 to 20 of 300

1.
KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation
Antonia González-Garrido, Omar López-Ramírez, Abel Cerda-Mireles, Thania Navarrete-Miranda, Aranza Iztanami Flores-Arenas, Arturo Rojo-Domínguez, Leticia Arregui, Pedro Iturralde, Erika Antúnez-Argüelles, Mayra Domínguez-Pérez, Leonor Jacobo-Albavera, Alessandra Carnevale, Teresa Villarreal-Molina
Int J Mol Sci. 2024 Jan; 25(2): 953. Published online 2024 Jan 12. doi: 10.3390/ijms25020953
PMCID:
PMC10816087
ArticlePDF–4.9M
2.
Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome
Nongnong Zhao, Zhengyang Yu, Zhejun Cai, Wenai Chen, Xiaopeng He, Zhaoxia Huo, Xiaoping Lin
BMC Cardiovasc Disord. 2023; 23: 399. Published online 2023 Aug 12. doi: 10.1186/s12872-023-03417-2
PMCID:
PMC10422715
ArticlePDF–1.7M
3.
Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population
Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, Laura Rabaut, Hein Heidbuchel, Lut Van Laer, Johan Saenen, Alain J. Labro, Bart Loeys
Orphanet J Rare Dis. 2023; 18: 23. Published online 2023 Jan 31. doi: 10.1186/s13023-023-02618-4
PMCID:
PMC9887867
ArticlePDF–1.3M
4.
Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants
Susanne Rinné, Annemarie Oertli, Claudia Nagel, Philipp Tomsits, Tina Jenewein, Stefan Kääb, Silke Kauferstein, Axel Loewe, Britt Maria Beckmann, Niels Decher
Int J Mol Sci. 2023 Jan; 24(2): 1350. Published online 2023 Jan 10. doi: 10.3390/ijms24021350
PMCID:
PMC9865342
ArticlePDF–3.0M
5.
To Modify or Not to Modify: Allele‐Specific Effects of 3'UTR‐KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant‐Negative Mutation
Annika Winbo, Ulla‐Britt Diamant, Johan Persson, Steen M. Jensen, Annika Rydberg
J Am Heart Assoc. 2022 Sep 20; 11(18): e025981. Published online 2022 Sep 14. doi: 10.1161/JAHA.122.025981
PMCID:
PMC9683681
ArticlePDF–1.8M
6.
Structural mechanisms for the activation of human cardiac KCNQ1 channel by electro-mechanical coupling enhancers
Demin Ma, Ling Zhong, Zhenzhen Yan, Jing Yao, Yan Zhang, Fan Ye, Yuan Huang, Dongwu Lai, Wei Yang, Panpan Hou, Jiangtao Guo
Proc Natl Acad Sci U S A. 2022 Nov 8; 119(45): e2207067119. Published online 2022 Nov 3. doi: 10.1073/pnas.2207067119
PMCID:
PMC9661191
ArticlePDF–7.3M
7.
KCNQ1-deficient and KCNQ1-mutant human embryonic stem cell-derived cardiomyocytes for modeling QT prolongation
Yuanxiu Song, Tianwei Guo, Youxu Jiang, Min Zhu, Hongyue Wang, Wenjing Lu, Mengqi Jiang, Man Qi, Feng Lan, Ming Cui
Stem Cell Res Ther. 2022; 13: 287. Published online 2022 Jun 28. doi: 10.1186/s13287-022-02964-3
PMCID:
PMC9241307
ArticlePDF–5.0M
8.
Generation of Isogenic hiPSCs with Targeted Edits at Multiple Intronic SNPs to Study the Effects of the Type 2 Diabetes Associated KCNQ1 Locus in American Indians
Anup K. Nair, Michael Traurig, Jeff R. Sutherland, Yunhua L. Muller, Emma D. Grellinger, Lucas Saporito, Robert G. Nelson, Clifton Bogardus, Leslie J. Baier
Cells. 2022 May; 11(9): 1446. Published online 2022 Apr 25. doi: 10.3390/cells11091446
PMCID:
PMC9102014
ArticlePDF–3.4M
9.
Predicting the functional impact of KCNQ1 variants with artificial neural networks
Saksham Phul, Georg Kuenze, Carlos G. Vanoye, Charles R. Sanders, Alfred L. George, Jr., Jens Meiler
PLoS Comput Biol. 2022 Apr; 18(4): e1010038. Published online 2022 Apr 20. doi: 10.1371/journal.pcbi.1010038
PMCID:
PMC9060377
ArticlePDF–2.2M
10.
Single cell chromatin accessibility identifies pancreatic islet cell type- and state-specific regulatory programs of diabetes risk
Joshua Chiou, Chun Zeng, Zhang Cheng, Jee Yun Han, Michael Schlichting, Michael Miller, Robert Mendez, Serina Huang, Jinzhao Wang, Yinghui Sui, Allison Deogaygay, Mei-Lin Okino, Yunjiang Qiu, Ying Sun, Parul Kudtarkar, Rongxin Fang, Sebastian Preissl, Maike Sander, David U Gorkin, Kyle J Gaulton
Nat Genet. Author manuscript; available in PMC 2022 Apr 25.
Published in final edited form as: Nat Genet. 2021 Apr; 53(4): 455–466. Published online 2021 Apr 1. doi: 10.1038/s41588-021-00823-0
PMCID:
PMC9037575
ArticlePDF–5.9M
11.
shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele
Lucía Cócera-Ortega, Ronald Wilders, Selina C. Kamps, Benedetta Fabrizi, Irit Huber, Ingeborg van der Made, Anouk van den Bout, Dylan K. de Vries, Lior Gepstein, Arie O. Verkerk, Yigal M. Pinto, Anke J. Tijsen
Int J Mol Sci. 2022 Apr; 23(7): 4053. Published online 2022 Apr 6. doi: 10.3390/ijms23074053
PMCID:
PMC9000197
ArticlePDF–1.8M
12.
KCNQ1 and lymphovascular invasion are key features in a prognostic classifier for stage II and III colon cancer
Sjoerd H. Uil, Veerle M. H. Coupé, Herman Bril, Gerrit A. Meijer, Remond J. A. Fijneman, Hein B. A. C. Stockmann
BMC Cancer. 2022; 22: 372. Published online 2022 Apr 8. doi: 10.1186/s12885-022-09473-9
PMCID:
PMC8991490
ArticlePDF–1.0M
13.
A Novel Role of Arrhythmia-Related Gene KCNQ1 Revealed by Multi-Omic Analysis: Theragnostic Value and Potential Mechanisms in Lung Adenocarcinoma
Kai-Tun Chang, Hsing-Ju Wu, Chien-Wei Liu, Chia-Ying Li, Hung-Yu Lin
Int J Mol Sci. 2022 Feb; 23(4): 2279. Published online 2022 Feb 18. doi: 10.3390/ijms23042279
PMCID:
PMC8874518
ArticlePDF–10M
14.
Mutation location and I  Ks regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region
Peter J Schwartz, Cristina Moreno, Maria-Christina Kotta, Matteo Pedrazzini, Lia Crotti, Federica Dagradi, Silvia Castelletti, Kristina H Haugaa, Isabelle Denjoy, Maria A Shkolnikova, Paul A Brink, Marshall J Heradien, Sandrine R M Seyen, Roel L H M G Spätjens, Carla Spazzolini, Paul G A Volders
Eur Heart J. 2021 Dec 7; 42(46): 4743–4755. Published online 2021 Sep 10. doi: 10.1093/eurheartj/ehab582
PMCID:
PMC8851466
ArticlePDF–1.6M
15.
Association of KCNQ1rs2237892C⟶T Gene with Type 2 Diabetes Mellitus: A Meta-Analysis
Wen-Jia Han, Jian-Yi Deng, Hua Jin, Li-Ping Yin, Jin-Xia Yang, Jiang-Jie Sun
J Diabetes Res. 2021; 2021: 6606830. Published online 2021 Nov 22. doi: 10.1155/2021/6606830
PMCID:
PMC8629679
ArticlePDF–621K
16.
The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele
Shannon Hateley, Angelica Lopez-Izquierdo, Chuanchau J. Jou, Scott Cho, Joshua G. Schraiber, Shiya Song, Colin T. Maguire, Natalia Torres, Michael Riedel, Neil E. Bowles, Cammon B. Arrington, Brett J. Kennedy, Susan P. Etheridge, Shuping Lai, Chase Pribble, Lindsay Meyers, Derek Lundahl, Jake Byrnes, Julie M. Granka, Christopher A. Kauffman, Gordon Lemmon, Steven Boyden, W. Scott Watkins, Mary Anne Karren, Stacey Knight, J. Brent Muhlestein, John F. Carlquist, Jeffrey L. Anderson, Kenneth G. Chahine, Khushi U. Shah, Catherine A. Ball, Ivor J. Benjamin, Mark Yandell, Martin Tristani-Firouzi
Nat Commun. 2021; 12: 6442. Published online 2021 Nov 8. doi: 10.1038/s41467-021-26741-7
PMCID:
PMC8575962
ArticlePDF–2.6M
17.
Synergistic effect between the KCNQ1 haplotype and alcohol consumption on the development of type 2 diabetes mellitus in Korean cohorts
Ji Young Park, Min-Gyu Yoo, Ji Ho Yun, Hye-Ja Lee, Sang Ick Park
Sci Rep. 2021; 11: 21796. Published online 2021 Nov 8. doi: 10.1038/s41598-021-01399-9
PMCID:
PMC8575903
ArticlePDF–990K
18.
Modulating the voltage sensor of a cardiac potassium channel shows antiarrhythmic effects
Yangyang Lin, Sam Z. Grinter, Zhongju Lu, Xianjin Xu, Hong Zhan Wang, Hongwu Liang, Panpan Hou, Junyuan Gao, Chris Clausen, Jingyi Shi, Wenshan Zhao, Zhiwei Ma, Yongfeng Liu, Kelli McFarland White, Lu Zhao, Po Wei Kang, Guohui Zhang, Ira S. Cohen, Xiaoqin Zou, Jianmin Cui
Proc Natl Acad Sci U S A. 2021 May 18; 118(20): e2024215118. Published online 2021 May 14. doi: 10.1073/pnas.2024215118
PMCID:
PMC8157969
ArticlePDF–1.6M
19.
Collision Induced Unfolding Differentiates Functional Variants of the KCNQ1 Voltage Sensor Domain
Sarah M. Fantin, Hui Huang, Charles R. Sanders, Brandon T. Ruotolo
J Am Soc Mass Spectrom. Author manuscript; available in PMC 2021 Nov 4.
Published in final edited form as: J Am Soc Mass Spectrom. 2020 Nov 4; 31(11): 2348–2355. Published online 2020 Sep 30. doi: 10.1021/jasms.0c00288
PMCID:
PMC8106873
ArticlePDF–1.4M
20.
Disease-linked supertrafficking of a potassium channel
Hui Huang, Laura M. Chamness, Carlos G. Vanoye, Georg Kuenze, Jens Meiler, Alfred L. George, Jr., Jonathan Patrick Schlebach, Charles R. Sanders
J Biol Chem. 2021 Jan-Jun; 296: 100423. Published online 2021 Feb 16. doi: 10.1016/j.jbc.2021.100423
PMCID:
PMC7988323
ArticlePDF–2.2M

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