Publications:

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Human Sinoatrial Node Pacemaker Activity: Role of the Slow Component of the Delayed Rectifier K+ Current, IKs.

International Journal Of Molecular Sciences

Verkerk, Arie O AO; Wilders, Ronald R

Publication Date: 2023-04-14

Variant appearance in text: KCNQ1: G229D

PubMed Link: 37108427

Variant Present in the following documents:

• Main text
• ijms-24-07264.pdf

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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: 686G>A; Gly229Asp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Epigenetics and Gut Microbiota Crosstalk: A potential Factor in Pathogenesis of Cardiovascular Disorders.

Bioengineering (Basel, Switzerland)

Mehta, Vineet V; Nagu, Priyanka P; Inbaraj, Baskaran Stephen BS; Sharma, Minaxi M; Parashar, Arun A; Sridhar, Kandi K

Publication Date: 2022-12-13

Variant appearance in text: KCNQ1: G229D

PubMed Link: 36551003

Variant Present in the following documents:

• bioengineering-09-00798.pdf

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: KCNQ1: 686G>A; Gly229Asp

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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An ensemble of parameters from a robust Markov-based model reproduces L-type calcium currents from different human cardiac myocytes.

Plos One

Novaes, Gustavo Montes GM; Alvarez-Lacalle, Enrique E; Muñoz, Sergio Alonso SA; Dos Santos, Rodrigo Weber RW

Publication Date: 2022

Variant appearance in text: KCNQ1: G229D

PubMed Link: 35381041

Variant Present in the following documents:

• pone.0266233.pdf

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Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Cells

Iop, Laura L; Iliceto, Sabino S; Civieri, Giovanni G; Tona, Francesco F

Publication Date: 2021-11-15

Variant appearance in text: KCNQ1: G229D

PubMed Link: 34831398

Variant Present in the following documents:

• Main text
• cells-10-03175.pdf

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Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.

Frontiers In Physiology

Belletti, Rebecca R; Romero, Lucia L; Martinez-Mateu, Laura L; Cherry, Elizabeth M EM; Fenton, Flavio H FH; Saiz, Javier J

Publication Date: 2021

Variant appearance in text: KCNQ1: G229D

PubMed Link: 34135774

Variant Present in the following documents:

• fphys-12-681943.pdf

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Disease-linked supertrafficking of a potassium channel.

The Journal Of Biological Chemistry

Huang, Hui H; Chamness, Laura M LM; Vanoye, Carlos G CG; Kuenze, Georg G; Meiler, Jens J; George, Alfred L AL; Schlebach, Jonathan Patrick JP; Sanders, Charles R CR

Publication Date: 2021

Variant appearance in text: KCNQ1: G229D

PubMed Link: 33600800

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page

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Prediction of Cardiac Mechanical Performance From Electrical Features During Ventricular Tachyarrhythmia Simulation Using Machine Learning Algorithms.

Frontiers In Physiology

Jeong, Da Un DU; Lim, Ki Moo KM

Publication Date: 2020

Variant appearance in text: KCNQ1: G229D

PubMed Link: 33329041

Variant Present in the following documents:

• Main text
• Data_Sheet_1.pdf
• fphys-11-591681.pdf

View BVdb publication page

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Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg

Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS

Publication Date: 2021-07

Variant appearance in text: KCNQ1: 686G>A; Gly229Asp

PubMed Link: 33279945

Variant Present in the following documents:

• 41431_2020_784_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model.

Journal Of Korean Medical Science

Heikhmakhtiar, Aulia Khamas AK; Abrha, Abebe Tekle AT; Jeong, Da Un DU; Lim, Ki Moo KM

Publication Date: 2020-07-27

Variant appearance in text: KCNQ1: G229D

PubMed Link: 32715669

Variant Present in the following documents:

• jkms-35-e238.pdf

View BVdb publication page

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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: G229D

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1

View BVdb publication page

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Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity.

Computational And Mathematical Methods In Medicine

Jeong, Da Un DU; Lee, Jiyeong J; Lim, Ki Moo KM

Publication Date: 2020

Variant appearance in text: KCNQ1: G229D

PubMed Link: 32328155

Variant Present in the following documents:

• Main text
• CMMM2020-7194275.pdf

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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: 686G>A; G229D

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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Understanding AF Mechanisms Through Computational Modelling and Simulations.

Arrhythmia & Electrophysiology Review

Aronis, Konstantinos N KN; Ali, Rheeda L RL; Liang, Jialiu A JA; Zhou, Shijie S; Trayanova, Natalia A NA

Publication Date: 2019-07

Variant appearance in text: KCNQ1: G229D

PubMed Link: 31463059

Variant Present in the following documents:

• Main text
• aer-08-210.pdf

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ERβ Accelerates Diabetic Wound Healing by Ameliorating Hyperglycemia-Induced Persistent Oxidative Stress.

Frontiers In Endocrinology

Zhou, Xueqing X; Li, Min M; Xiao, Meifang M; Ruan, Qiongfang Q; Chu, Zhigang Z; Ye, Ziqing Z; Zhong, Liyan L; Zhang, Haimou H; Huang, Xiaodong X; Xie, Weiguo W; Li, Ling L; Yao, Paul P

Publication Date: 2019

Variant appearance in text: KCNQ1: G229D

PubMed Link: 31396159

Variant Present in the following documents:

• fendo-10-00499.pdf

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Investigating the Complex Arrhythmic Phenotype Caused by the Gain-of-Function Mutation KCNQ1-G229D.

Frontiers In Physiology

Zhou, Xin X; Bueno-Orovio, Alfonso A; Schilling, Richard J RJ; Kirkby, Claire C; Denning, Chris C; Rajamohan, Divya D; Burrage, Kevin K; Tinker, Andrew A; Rodriguez, Blanca B; Harmer, Stephen C SC

Publication Date: 2019

Variant appearance in text: KCNQ1: 686G>A

PubMed Link: 30967788

Variant Present in the following documents:

• Main text
• Data_Sheet_1.pdf
• fphys-10-00259.pdf

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Effect of myocardial heterogeneity on ventricular electro-mechanical responses: a computational study.

Biomedical Engineering Online

Dusturia, Nida N; Choi, Seong Wook SW; Song, Kwang Soup KS; Lim, Ki Moo KM

Publication Date: 2019-03-14

Variant appearance in text: KCNQ1: G229D

PubMed Link: 30871548

Variant Present in the following documents:

• 12938_2019_Article_640.pdf

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Influence of the KCNQ1 S140G Mutation on Human Ventricular Arrhythmogenesis and Pumping Performance: Simulation Study.

Frontiers In Physiology

Jeong, Da Un DU; Lim, Ki Moo KM

Publication Date: 2018

Variant appearance in text: KCNQ1: G229D

PubMed Link: 30108508

Variant Present in the following documents:

• Main text
• fphys-09-00926.pdf

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Effect of KCNQ1 G229D mutation on cardiac pumping efficacy and reentrant dynamics in ventricles: Computational study.

International Journal For Numerical Methods In Biomedical Engineering

Yuniarti, Ana Rahma AR; Setianto, Febrian F; Marcellinus, Aroli A; Hwang, Han Jeong HJ; Choi, Seong Wook SW; Trayanova, Natalia N; Lim, Ki Moo KM

Publication Date: 2018-06

Variant appearance in text: KCNQ1: G229D

PubMed Link: 29488358

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: 686G>A; Gly229Asp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Cardiac Electrophysiology Clinics

Chen, Lei L; Sampson, Kevin J KJ; Kass, Robert S RS

Publication Date: 2016-06

Variant appearance in text: KCNQ1: G229D

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

View BVdb publication page

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