| 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. | 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.
González-Garrido A, López-Ramírez O, Cerda-Mireles A, Navarrete-Miranda T, Flores-Arenas AI, Rojo-Domínguez A, Arregui L, Iturralde P, Antúnez-Argüelles E, Domínguez-Pérez M, Jacobo-Albavera L, Carnevale A, Villarreal-Molina T., Free PMC Article | 02/1/2024 |
| Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome. | Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome.
Zhao N, Yu Z, Cai Z, Chen W, He X, Huo Z, Lin X., Free PMC Article | 08/14/2023 |
| Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis. | Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis.
Hu Y, Yu Y, Dong H, Jiang W., Free PMC Article | 06/3/2023 |
| The role of native cysteine residues in the oligomerization of KCNQ1 channels. | The role of native cysteine residues in the oligomerization of KCNQ1 channels.
Bates A, Stowe RB, Travis EM, Cook LE, Dabney-Smith C, Lorigan GA., | 05/8/2023 |
| KCNQ1 rs2237892 polymorphism modify the association between short-term ambient particulate matter exposure and fasting blood glucose: A family-based study. | KCNQ1 rs2237892 polymorphism modify the association between short-term ambient particulate matter exposure and fasting blood glucose: A family-based study.
Peng H, Wang M, Wang S, Wang X, Fan M, Qin X, Wu Y, Chen D, Li J, Hu Y, Wu T. | 05/8/2023 |
| Structural mechanisms for the activation of human cardiac KCNQ1 channel by electro-mechanical coupling enhancers. | Structural mechanisms for the activation of human cardiac KCNQ1 channel by electro-mechanical coupling enhancers.
Ma D, Zhong L, Yan Z, Yao J, Zhang Y, Ye F, Huang Y, Lai D, Yang W, Hou P, Guo J., Free PMC Article | 02/23/2023 |
| Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population. | Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.
Sieliwonczyk E, Alaerts M, Simons E, Snyders D, Nijak A, Vandendriessche B, Schepers D, Akdeniz D, Van Craenenbroeck E, Knaepen K, Rabaut L, Heidbuchel H, Van Laer L, Saenen J, Labro AJ, Loeys B., Free PMC Article | 02/4/2023 |
| Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants. | Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.
Rinné S, Oertli A, Nagel C, Tomsits P, Jenewein T, Kääb S, Kauferstein S, Loewe A, Beckmann BM, Decher N., Free PMC Article | 01/28/2023 |
| 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. | 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.
Winbo A, Diamant UB, Persson J, Jensen SM, Rydberg A., Free PMC Article | 10/1/2022 |
| Purification and membrane interactions of human KCNQ1100-370 potassium ion channel. | Purification and membrane interactions of human KCNQ1(100-370) potassium ion channel.
Dixit G, Stowe RB, Bates A, Jaycox CK, Escobar JR, Harding BD, Drew DL Jr, New CP, Sahu ID, Edelmann RE, Dabney-Smith C, Sanders CR, Lorigan GA. | 09/17/2022 |
| KCNJ11 and KCNQ1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes Mellitus. | KCNJ11 and KCNQ1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes Mellitus.
Majcher S, Ustianowski P, Malinowski D, Czerewaty M, Tarnowski M, Safranow K, Dziedziejko V, Pawlik A., Free PMC Article | 08/6/2022 |
| A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome. | A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome.
Bains S, Dotzler SM, Krijger C, Giudicessi JR, Ye D, Bikker H, Rohatgi RK, Tester DJ, Bos JM, Wilde AAM, Ackerman MJ. | 07/30/2022 |
| KCNQ1-deficient and KCNQ1-mutant human embryonic stem cell-derived cardiomyocytes for modeling QT prolongation. | KCNQ1-deficient and KCNQ1-mutant human embryonic stem cell-derived cardiomyocytes for modeling QT prolongation.
Song Y, Guo T, Jiang Y, Zhu M, Wang H, Lu W, Jiang M, Qi M, Lan F, Cui M., Free PMC Article | 07/9/2022 |
| Associations between KCNQ1 and ITIH4 gene polymorphisms and infant weight gain in early life. | Associations between KCNQ1 and ITIH4 gene polymorphisms and infant weight gain in early life.
Zhang Y, Mei H, Xu K, Li C, Chang R, Qi H, Zhang Y, Zhang J. | 06/11/2022 |
| Association of KCNQ1rs2237892CT Gene with Type 2 Diabetes Mellitus: A Meta-Analysis. | Association of KCNQ1rs2237892C⟶T Gene with Type 2 Diabetes Mellitus: A Meta-Analysis.
Han WJ, Deng JY, Jin H, Yin LP, Yang JX, Sun JJ., Free PMC Article | 05/14/2022 |
| Celebrities in the heart, strangers in the pancreatic beta cell: Voltage-gated potassium channels Kv 7.1 and Kv 11.1 bridge long QT syndrome with hyperinsulinaemia as well as type 2 diabetes. | Celebrities in the heart, strangers in the pancreatic beta cell: Voltage-gated potassium channels K(v) 7.1 and K(v) 11.1 bridge long QT syndrome with hyperinsulinaemia as well as type 2 diabetes.
Lubberding AF, Juhl CR, Skovhøj EZ, Kanters JK, Mandrup-Poulsen T, Torekov SS., Free PMC Article | 05/7/2022 |
| KCNQ1 and lymphovascular invasion are key features in a prognostic classifier for stage II and III colon cancer. | KCNQ1 and lymphovascular invasion are key features in a prognostic classifier for stage II and III colon cancer.
Uil SH, Coupé VMH, Bril H, Meijer GA, Fijneman RJA, Stockmann HBAC., Free PMC Article | 04/23/2022 |
| Developmental changes in cardiac expression of KCNQ1 and SCN5A spliceoforms: Implications for sudden unexpected infant death. | Developmental changes in cardiac expression of KCNQ1 and SCN5A spliceoforms: Implications for sudden unexpected infant death.
Williams AF, Bryan AF, Tomasek K, Fulmer CA, Gregory K, Bozeman C, Li F, Absi TS, Su YR, Kannankeril PJ., Free PMC Article | 04/16/2022 |
| PKC-isoform specific regulation of receptor desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant alpha1B-adrenergic receptors. | PKC-isoform specific regulation of receptor desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant α(1B)-adrenergic receptors.
Renkhold L, Kollmann R, Inderwiedenstraße L, Kienitz MC. | 04/9/2022 |
| A Novel Role of Arrhythmia-Related Gene KCNQ1 Revealed by Multi-Omic Analysis: Theragnostic Value and Potential Mechanisms in Lung Adenocarcinoma. | A Novel Role of Arrhythmia-Related Gene KCNQ1 Revealed by Multi-Omic Analysis: Theragnostic Value and Potential Mechanisms in Lung Adenocarcinoma.
Chang KT, Wu HJ, Liu CW, Li CY, Lin HY., Free PMC Article | 03/26/2022 |
| Synergistic effect between the KCNQ1 haplotype and alcohol consumption on the development of type 2 diabetes mellitus in Korean cohorts. | Synergistic effect between the KCNQ1 haplotype and alcohol consumption on the development of type 2 diabetes mellitus in Korean cohorts.
Park JY, Yoo MG, Yun JH, Lee HJ, Park SI., Free PMC Article | 03/19/2022 |
| Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of KCNQ1 gene: A nested case-control study. | Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of KCNQ1 gene: A nested case-control study.
Hu F, Zhang Y, Qin P, Zhao Y, Liu D, Zhou Q, Tian G, Li Q, Guo C, Wu X, Qie R, Huang S, Han M, Li Y, Zhang M, Hu D. | 02/19/2022 |
| Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region. | Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.
Schwartz PJ, Moreno C, Kotta MC, Pedrazzini M, Crotti L, Dagradi F, Castelletti S, Haugaa KH, Denjoy I, Shkolnikova MA, Brink PA, Heradien MJ, Seyen SRM, Spätjens RLHMG, Spazzolini C, Volders PGA., Free PMC Article | 12/25/2021 |
| The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele. | The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.
Hateley S, Lopez-Izquierdo A, Jou CJ, Cho S, Schraiber JG, Song S, Maguire CT, Torres N, Riedel M, Bowles NE, Arrington CB, Kennedy BJ, Etheridge SP, Lai S, Pribble C, Meyers L, Lundahl D, Byrnes J, Granka JM, Kauffman CA, Lemmon G, Boyden S, Scott Watkins W, Karren MA, Knight S, Brent Muhlestein J, Carlquist JF, Anderson JL, Chahine KG, Shah KU, Ball CA, Benjamin IJ, Yandell M, Tristani-Firouzi M., Free PMC Article | 12/11/2021 |
| Modulating the voltage sensor of a cardiac potassium channel shows antiarrhythmic effects. | Modulating the voltage sensor of a cardiac potassium channel shows antiarrhythmic effects.
Lin Y, Grinter SZ, Lu Z, Xu X, Wang HZ, Liang H, Hou P, Gao J, Clausen C, Shi J, Zhao W, Ma Z, Liu Y, White KM, Zhao L, Kang PW, Zhang G, Cohen IS, Zou X, Cui J., Free PMC Article | 12/4/2021 |