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: Q147R

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: 440A>G; Gln147Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: Q147R

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: Q147R

PubMed Link: 33600800

Variant Present in the following documents:

• mmc1.pdf
• main.pdf

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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: 440A>G; Gln147Arg

PubMed Link: 33279945

Variant Present in the following documents:

• 41431_2020_784_MOESM3_ESM.xlsx, sheet 1

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Genetics and Epigenetics of Atrial Fibrillation.

International Journal Of Molecular Sciences

Lozano-Velasco, Estefanía E; Franco, Diego D; Aranega, Amelia A; Daimi, Houria H

Publication Date: 2020-08-10

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 32784971

Variant Present in the following documents:

• Main text
• ijms-21-05717.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: Q147R

PubMed Link: 30967788

Variant Present in the following documents:

• Main text
• fphys-10-00259.pdf

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Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling.

Frontiers In Physiology

Whittaker, Dominic G DG; Colman, Michael A MA; Ni, Haibo H; Hancox, Jules C JC; Zhang, Henggui H

Publication Date: 2018

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 30337886

Variant Present in the following documents:

• fphys-09-01402.pdf

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Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.

Circulation. Cardiovascular Genetics

Li, Bian B; Mendenhall, Jeffrey L JL; Kroncke, Brett M BM; Taylor, Keenan C KC; Huang, Hui H; Smith, Derek K DK; Vanoye, Carlos G CG; Blume, Jeffrey D JD; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J

Publication Date: 2017-10

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 29021305

Variant Present in the following documents:

• Main text

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Germline versus somatic mutations in genetic atrial fibrillation.

Heart Rhythm

McCauley, Mark M; Darbar, Dawood D

Publication Date: 2017-10

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 28734984

Variant Present in the following documents:

• Main text

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Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T).

Heartrhythm Case Reports

Rothenberg, Ina I; Piccini, Ilaria I; Wrobel, Eva E; Stallmeyer, Birgit B; Müller, Jovanca J; Greber, Boris B; Strutz-Seebohm, Nathalie N; Schulze-Bahr, Eric E; Schmitt, Nicole N; Seebohm, Guiscard G

Publication Date: 2016-11

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 28491751

Variant Present in the following documents:

• main.pdf

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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: Q147R

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

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Syncope and cardiac arrest during strenuous exercise associated with a novel mutation in LQTS1.

Clinical Case Reports

Sandhu, Amneet A; Krantz, Mori J MJ; Taylor, Matthew M; Aleong, Ryan G RG; Stichman, Jennifer J; Schuller, Joseph L JL

Publication Date: 2015-12

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 26734131

Variant Present in the following documents:

• Main text
• CCR3-3-0971.pdf

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Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.

Journal Of Geriatric Cardiology : Jgc

Wu, Zhi-Juan ZJ; Huang, Yun Y; Fu, Yi-Cheng YC; Zhao, Xiao-Jing XJ; Zhu, Chao C; Zhang, Yu Y; Xu, Bin B; Zhu, Qing-Lei QL; Li, Yang Y

Publication Date: 2015-07

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 26346102

Variant Present in the following documents:

• Main text

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Auxiliary KCNE subunits modulate both homotetrameric Kv2.1 and heterotetrameric Kv2.1/Kv6.4 channels.

Scientific Reports

David, Jens-Peter JP; Stas, Jeroen I JI; Schmitt, Nicole N; Bocksteins, Elke E

Publication Date: 2015-08-05

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 26242757

Variant Present in the following documents:

• srep12813.pdf

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Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.

Thescientificworldjournal

Chu, Hui-min HM; Feng, Ming-jun MJ; Li, Yi-gang YG; Zhang, Yi-xin YX; Ma, Ji-fang JF; He, Bin B; Yu, Yi-bo YB; Liu, Jing J; Chen, Xiao-min XM

Publication Date: 2013

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 23710137

Variant Present in the following documents:

• Main text

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Personalized medicine and atrial fibrillation: will it ever happen?

Bmc Medicine

Lubitz, Steven A SA; Ellinor, Patrick T PT

Publication Date: 2012-12-04

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 23210687

Variant Present in the following documents:

• 1741-7015-10-155.pdf

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Regulation of Voltage-Activated K(+) Channel Gating by Transmembrane β Subunits.

Frontiers In Pharmacology

Sun, Xiaohui X; Zaydman, Mark A MA; Cui, Jianmin J

Publication Date: 2012

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 22529812

Variant Present in the following documents:

• Main text

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Genetics of atrial fibrillation and possible implications for ischemic stroke.

Stroke Research And Treatment

Lemmens, Robin R; Hermans, Sylvia S; Nuyens, Dieter D; Thijs, Vincent V

Publication Date: 2011

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 21822468

Variant Present in the following documents:

• SRT2011-208694.pdf

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Gating-related molecular motions in the extracellular domain of the IKs channel: implications for IKs channelopathy.

The Journal Of Membrane Biology

Wang, Yu Hong YH; Jiang, Min M; Xu, Xu Lin XL; Hsu, Kai-Ling KL; Zhang, Mei M; Tseng, Gea-Ny GN

Publication Date: 2011-02

Variant appearance in text: LQT1: Q147R

PubMed Link: 21152909

Variant Present in the following documents:

• Main text

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Structural basis for K(V)7.1-KCNE(x) interactions in the I(Ks) channel complex.

Heart Rhythm

Lundby, Alicia A; Tseng, Gea-Ny GN; Schmitt, Nicole N

Publication Date: 2010-05

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 20206317

Variant Present in the following documents:

• Main text

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KCNQ1 and KCNE1 in the IKs channel complex make state-dependent contacts in their extracellular domains.

The Journal Of General Physiology

Xu, Xulin X; Jiang, Min M; Hsu, Kai-Ling KL; Zhang, Mei M; Tseng, Gea-Ny GN

Publication Date: 2008-06

Variant appearance in text: KCNQ1: Q147R

PubMed Link: 18504315

Variant Present in the following documents:

• Main text
• jgp1310589.pdf

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