Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 1070A>G; Gln357Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Efficacy and safety of Wenxin Keli combined with metoprolol tartrate in the treatment of premature ventricular contractions: A systematic review and meta-analysis.

Frontiers In Cardiovascular Medicine

Huang, Ping P; Luo, Yining Y; Chen, Jiaxue J; Xu, Jingke J; Shi, Yuanshu Y; Chen, Guoren G; Ma, Ping P

Publication Date: 2022

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 35966568

Variant Present in the following documents:

• fcvm-09-952657.pdf

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Use of hiPSC-Derived Cardiomyocytes to Rule Out Proarrhythmic Effects of Drugs: The Case of Hydroxychloroquine in COVID-19.

Frontiers In Physiology

Sala, Luca L; Leonov, Vladislav V; Mura, Manuela M; Giannetti, Federica F; Khudiakov, Aleksandr A; Moretti, Alessandra A; Crotti, Lia L; Gnecchi, Massimiliano M; Schwartz, Peter J PJ

Publication Date: 2021

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 35153806

Variant Present in the following documents:

• fphys-12-730127.pdf

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Molecular determinants of pro-arrhythmia proclivity of d- and l-sotalol via a multi-scale modeling pipeline.

Journal Of Molecular And Cellular Cardiology

DeMarco, Kevin R KR; Yang, Pei-Chi PC; Singh, Vikrant V; Furutani, Kazuharu K; Dawson, John R D JRD; Jeng, Mao-Tsuen MT; Fettinger, James C JC; Bekker, Slava S; Ngo, Van A VA; Noskov, Sergei Y SY; Yarov-Yarovoy, Vladimir V; Sack, Jon T JT; Wulff, Heike H; Clancy, Colleen E CE; Vorobyov, Igor I

Publication Date: 2021-09

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 34062207

Variant Present in the following documents:

• NIHMS1782625-supplement-1.pdf

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Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.

Scientific Reports

Synková, Iva I; Bébarová, Markéta M; Andršová, Irena I; Chmelikova, Larisa L; Švecová, Olga O; Hošek, Jan J; Pásek, Michal M; Vít, Pavel P; Valášková, Iveta I; Gaillyová, Renata R; Navrátil, Rostislav R; Novotný, Tomáš T

Publication Date: 2021-02-11

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 33574382

Variant Present in the following documents:

• 41598_2021_81670_MOESM1_ESM.pdf

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A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Plos Computational Biology

Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE

Publication Date: 2020-08

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 32797034

Variant Present in the following documents:

• pcbi.1008109.pdf

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Nanoscale regulation of L-type calcium channels differentiates between ischemic and dilated cardiomyopathies.

Ebiomedicine

Sanchez-Alonso, Jose L JL; Loucks, Alexandra A; Schobesberger, Sophie S; van Cromvoirt, Ankie M AM; Poulet, Claire C; Chowdhury, Rasheda A RA; Trayanova, Natalia N; Gorelik, Julia J

Publication Date: 2020-07

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 32580140

Variant Present in the following documents:

• main.pdf

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fphar-11-00550.pdf

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Physical and functional interaction sites in cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.

American Journal Of Physiology. Heart And Circulatory Physiology

Chen, Jerri J; Liu, Zhenning Z; Creagh, John J; Zheng, Renjian R; McDonald, Thomas V TV

Publication Date: 2020-02-01

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 31834838

Variant Present in the following documents:

• Main text

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: KCNQ1: 1070A>G; Q357R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Neuromodulation for Ventricular Tachycardia and Atrial Fibrillation: A Clinical Scenario-Based Review.

Jacc. Clinical Electrophysiology

Zhu, Ching C; Hanna, Peter P; Rajendran, Pradeep S PS; Shivkumar, Kalyanam K

Publication Date: 2019-08

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 31439288

Variant Present in the following documents:

• Main text

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Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Acta Cardiologica Sinica

Dehghani-Samani, Amir A; Madreseh-Ghahfarokhi, Samin S; Dehghani-Samani, Azam A

Publication Date: 2019-03

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 30930557

Variant Present in the following documents:

• Main text

View BVdb publication page

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Degradation of T-Tubular Microdomains and Altered cAMP Compartmentation Lead to Emergence of Arrhythmogenic Triggers in Heart Failure Myocytes: An in silico Study.

Frontiers In Physiology

Loucks, Alexandra D AD; O'Hara, Thomas T; Trayanova, Natalia A NA

Publication Date: 2018

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 30564142

Variant Present in the following documents:

• fphys-09-01737.pdf

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Transient Outward K+ Current (Ito) Underlies the Right Ventricular Initiation of Polymorphic Ventricular Tachycardia in a Transgenic Rabbit Model of Long-QT Syndrome Type 1.

Circulation. Arrhythmia And Electrophysiology

Choi, Bum-Rak BR; Li, Weiyan W; Terentyev, Dmitry D; Kabakov, Anatoli Y AY; Zhong, Mingwang M; Rees, Colin M CM; Terentyeva, Radmila R; Kim, Tae Yun TY; Qu, Zhilin Z; Peng, Xuwen X; Karma, Alain A; Koren, Gideon G

Publication Date: 2018-06

Variant appearance in text: LQT1: Q357R

PubMed Link: 29769222

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling.

Journal Of Medical And Biological Engineering

Lee, Hsiang-Chun HC; Rudy, Yoram Y; Liang, Hongwu H; Chen, Chih-Chieh CC; Luo, Ching-Hsing CH; Sheu, Sheng-Hsiung SH; Cui, Jianmin J

Publication Date: 2017-10

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 29213224

Variant Present in the following documents:

• 40846_2017_Article_257.pdf

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In silico investigation of a KCNQ1 mutation associated with short QT syndrome.

Scientific Reports

Adeniran, Ismail I; Whittaker, Dominic G DG; El Harchi, Aziza A; Hancox, Jules C JC; Zhang, Henggui H

Publication Date: 2017-08-16

Variant appearance in text: LQT1: Q357R

PubMed Link: 28814790

Variant Present in the following documents:

• Main text

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNQ1: 1070A>G; Gln357Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A multiscale computational modelling approach predicts mechanisms of female sex risk in the setting of arousal-induced arrhythmias.

The Journal Of Physiology

Yang, Pei-Chi PC; Perissinotti, Laura L LL; López-Redondo, Fernando F; Wang, Yibo Y; DeMarco, Kevin R KR; Jeng, Mao-Tsuen MT; Vorobyov, Igor I; Harvey, Robert D RD; Kurokawa, Junko J; Noskov, Sergei Y SY; Clancy, Colleen E CE

Publication Date: 2017-07-15

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 28516454

Variant Present in the following documents:

• TJP-595-4695.pdf

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Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Biophysical Journal

Cui, Jianmin J

Publication Date: 2016-01-05

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 26745405

Variant Present in the following documents:

• Main text

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: KCNQ1: 1070A>G

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

View BVdb publication page

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Intracellular ATP binding is required to activate the slowly activating K+ channel I(Ks).

Proceedings Of The National Academy Of Sciences Of The United States Of America

Li, Yang Y; Gao, Junyuan J; Lu, Zhongju Z; McFarland, Kelli K; Shi, Jingyi J; Bock, Kevin K; Cohen, Ira S IS; Cui, Jianmin J

Publication Date: 2013-11-19

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 24190995

Variant Present in the following documents:

• Main text

View BVdb publication page

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Computational cardiology: the heart of the matter.

Isrn Cardiology

Trayanova, Natalia A NA

Publication Date: 2012

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 23213566

Variant Present in the following documents:

• ISRN.CARDIOLOGY2012-269680.pdf

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Arrhythmia formation in subclinical ("silent") long QT syndrome requires multiple insults: quantitative mechanistic study using the KCNQ1 mutation Q357R as example.

Heart Rhythm

O'Hara, Thomas T; Rudy, Yoram Y

Publication Date: 2012-02

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 21952006

Variant Present in the following documents:

• Main text

View BVdb publication page

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Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy

Harkcom, William T WT; Abbott, Geoffrey W GW

Publication Date: 2010-08

Variant appearance in text: LQT1: Q357R

PubMed Link: 20670193

Variant Present in the following documents:

• Main text

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Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

The Journal Of General Physiology

Eldstrom, Jodene J; Xu, Hongjian H; Werry, Daniel D; Kang, Congbao C; Loewen, Matthew E ME; Degenhardt, Amanda A; Sanatani, Shubhayan S; Tibbits, Glen F GF; Sanders, Charles C; Fedida, David D

Publication Date: 2010-05

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 20421371

Variant Present in the following documents:

• Main text
• JGP_200910351.pdf

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Analysis of the interactions between the C-terminal cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.

The Biochemical Journal

Zheng, Renjian R; Thompson, Keith K; Obeng-Gyimah, Edmond E; Alessi, Dana D; Chen, Jerri J; Cheng, Huiyong H; McDonald, Thomas V TV

Publication Date: 2010-04-28

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 20196769

Variant Present in the following documents:

• Main text

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KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.

Clinical Genetics

Chen, S S; Zhang, L L; Bryant, R M RM; Vincent, G M GM; Flippin, M M; Lee, J C JC; Brown, E E; Zimmerman, F F; Rozich, R R; Szafranski, P P; Oberti, C C; Sterba, R R; Marangi, D D; Tchou, P J PJ; Chung, M K MK; Wang, Q Q

Publication Date: 2003-04

Variant appearance in text: KCNQ1: Q357R

PubMed Link: 12702160

Variant Present in the following documents:

• Main text

View BVdb publication page

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