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Items: 1 to 20 of 302

1.
Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients
Charles Morgat, Véronique Fressart, Alessandra Pia Porretta, Nathalie Neyroud, Anne Messali, Yassine Temmar, Vincent Algalarrondo, Elodie Surget, Adrien Bloch, Antoine Leenhardt, Isabelle Denjoy, Fabrice Extramiana
Europace. 2024 Jun; 26(6): euae136. Published online 2024 Jun 3. doi: 10.1093/europace/euae136
PMCID:
PMC11203906
AbstractArticlePDF–260K
2.
Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians
Ishan Sunilkumar Bhatt, Raquel Dias, Ali Torkamani
Otol Neurotol. Author manuscript; available in PMC 2024 Feb 12.
Published in final edited form as: Otol Neurotol. 2021 Oct 1; 42(9): e1203–e1212. doi: 10.1097/MAO.0000000000003279
PMCID:
PMC10860185
AbstractArticlePDF–837K
3.
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
AbstractArticlePDF–4.9M
4.
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
AbstractArticlePDF–1.7M
5.
Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis
Yongzheng Hu, Yani Yu, Hui Dong, Wei Jiang
PeerJ. 2023; 11: e15437. Published online 2023 May 25. doi: 10.7717/peerj.15437
PMCID:
PMC10225123
AbstractArticlePDF–4.2M
6.
The Role of Native Cysteine Residues in the Oligomerization of KCNQ1 Channels
Alison Bates, Rebecca B. Stowe, Elizabeth M. Travis, Lauryn E. Cook, Carole Dabney-Smith, Gary A. Lorigan
Biochem Biophys Res Commun. Author manuscript; available in PMC 2024 Jun 4.
Published in final edited form as: Biochem Biophys Res Commun. 2023 Jun 4; 659: 34–39. Published online 2023 Mar 31. doi: 10.1016/j.bbrc.2023.03.082
PMCID:
PMC10170711
AbstractArticlePDF–690K
7.
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
AbstractArticlePDF–1.3M
8.
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
AbstractArticlePDF–3.0M
9.
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
AbstractArticlePDF–1.8M
10.
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
AbstractArticlePDF–7.3M
11.
KCNJ11 and KCNQ1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes Mellitus
Sandra Majcher, Przemysław Ustianowski, Damian Malinowski, Michał Czerewaty, Maciej Tarnowski, Krzysztof Safranow, Violetta Dziedziejko, Andrzej Pawlik
Genes (Basel) 2022 Aug; 13(8): 1315. Published online 2022 Jul 23. doi: 10.3390/genes13081315
PMCID:
PMC9331982
AbstractArticlePDF–260K
12.
Celebrities in the heart, strangers in the pancreatic beta cell: Voltage‐gated potassium channels Kv7.1 and Kv11.1 bridge long QT syndrome with hyperinsulinaemia as well as type 2 diabetes
Anniek F. Lubberding, Christian R. Juhl, Emil Z. Skovhøj, Jørgen K. Kanters, Thomas Mandrup‐Poulsen, Signe S. Torekov
Acta Physiol (Oxf) 2022 Mar; 234(3): e13781. Published online 2022 Jan 22. doi: 10.1111/apha.13781
PMCID:
PMC9286829
AbstractArticlePDF–1.4M
13.
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
AbstractArticlePDF–5.0M
14.
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
AbstractArticlePDF–3.4M
15.
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
AbstractArticlePDF–2.2M
16.
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
AbstractArticlePDF–5.9M
17.
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
AbstractArticlePDF–1.8M
18.
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
AbstractArticlePDF–1.0M
19.
Developmental Changes in Cardiac Expression of KCNQ1 and SCN5A Spliceoforms: Implications for Sudden Unexpected Infant Death
Alexandra F Williams, Audra F Bryan, Kelsey Tomasek, Carlos A Fulmer, Kyle Gregory, Cole Bozeman, Feng Li, Tarek S Absi, Yan Ru Su, Prince J Kannankeril
Heart Rhythm. Author manuscript; available in PMC 2023 Apr 1.
Published in final edited form as: Heart Rhythm. 2022 Apr; 19(4): 667–673. Published online 2021 Nov 26. doi: 10.1016/j.hrthm.2021.11.031
PMCID:
PMC8977237
AbstractArticlePDF–827K
20.
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
AbstractArticlePDF–10M

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