Publications:

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Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

Hancox, J C JC; Du, C Y CY; Butler, A A; Zhang, Y Y; Dempsey, C E CE; Harmer, S C SC; Zhang, H H

Publication Date: 2023-06-19

Variant appearance in text: HERG: L532P

PubMed Link: 37122211

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• Main text
• rstb.2022.0165.pdf

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hERG1 channel subunit composition mediates proton inhibition of rapid delayed rectifier potassium current (IKr) in cardiomyocytes derived from hiPSCs.

The Journal Of Biological Chemistry

Ukachukwu, Chiamaka U CU; Jimenez-Vazquez, Eric N EN; Jain, Abhilasha A; Jones, David K DK

Publication Date: 2022-12-07

Variant appearance in text: HERG: L532P

PubMed Link: 36496073

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• Main text
• main.pdf

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: KCNH2: L532P

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Identification through action potential clamp of proarrhythmic consequences of the short QT syndrome T618I hERG 'hotspot' mutation.

Biochemical And Biophysical Research Communications

Du, Chunyun C; Zhang, Henggui H; Harmer, Stephen C SC; Hancox, Jules C JC

Publication Date: 2022-03-12

Variant appearance in text: KCNH2: L532P

PubMed Link: 35114584

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• main.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: KCNH2: L532P

PubMed Link: 34135774

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• Main text
• fphys-12-681943.pdf

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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: KCNH2: L532P

PubMed Link: 33329041

Variant Present in the following documents:

• Data_Sheet_1.pdf

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Electrophysiological characterization of the modified hERGT potassium channel used to obtain the first cryo-EM hERG structure.

Physiological Reports

Zhang, Yihong Y; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2020-10

Variant appearance in text: HERG: L532P

PubMed Link: 33091232

Variant Present in the following documents:

• PHY2-8-e14568.pdf

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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: KCNH2: L532P

PubMed Link: 32715669

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• Main text
• jkms-35-e238.pdf

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Serine mutation of a conserved threonine in the hERG K+ channel S6-pore region leads to loss-of-function through trafficking impairment.

Biochemical And Biophysical Research Communications

Al-Moubarak, Ehab E; Zhang, Yihong Y; Dempsey, Christopher E CE; Zhang, Henggui H; Harmer, Stephen C SC; Hancox, Jules C JC

Publication Date: 2020-06-11

Variant appearance in text: HERG: L532P

PubMed Link: 32321643

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• main.pdf

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An Update on the Structure of hERG.

Frontiers In Pharmacology

Butler, Andrew A; Helliwell, Matthew V MV; Zhang, Yihong Y; Hancox, Jules C JC; Dempsey, Christopher E CE

Publication Date: 2019

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PubMed Link: 32038248

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• Main text
• fphar-10-01572.pdf

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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: KCNH2: L532P

PubMed Link: 31463059

Variant Present in the following documents:

• aer-08-210.pdf

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Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.

Heliyon

Butler, Andrew A; Zhang, Yihong Y; Stuart, A Graham AG; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2019-04

Variant appearance in text: LQT2: L532P

PubMed Link: 31049424

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• Main text
• main.pdf

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In silico Assessment of Pharmacotherapy for Human Atrial Patho-Electrophysiology Associated With hERG-Linked Short QT Syndrome.

Frontiers In Physiology

Whittaker, Dominic G DG; Hancox, Jules C JC; Zhang, Henggui H

Publication Date: 2018

Variant appearance in text: KCNH2: L532P

PubMed Link: 30687112

Variant Present in the following documents:

• fphys-09-01888.pdf

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Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome.

Physiological Reports

Butler, Andrew A; Zhang, Yihong Y; Stuart, Alan G AG; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2018-09

Variant appearance in text: HERG: L532P

PubMed Link: 30175559

Variant Present in the following documents:

• PHY2-6-e13845.pdf

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Structural implications of hERG K+ channel block by a high-affinity minimally structured blocker.

The Journal Of Biological Chemistry

Helliwell, Matthew V MV; Zhang, Yihong Y; El Harchi, Aziza A; Du, Chunyun C; Hancox, Jules C JC; Dempsey, Christopher E CE

Publication Date: 2018-05-04

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PubMed Link: 29545312

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• zbc7040.pdf

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Computational Analysis of the Mode of Action of Disopyramide and Quinidine on hERG-Linked Short QT Syndrome in Human Ventricles.

Frontiers In Physiology

Whittaker, Dominic G DG; Ni, Haibo H; Benson, Alan P AP; Hancox, Jules C JC; Zhang, Henggui H

Publication Date: 2017

Variant appearance in text: HERG: L532P

PubMed Link: 29085299

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• fphys-08-00759.pdf

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Interactions between amiodarone and the hERG potassium channel pore determined with mutagenesis and in silico docking.

Biochemical Pharmacology

Zhang, Yihong Y; Colenso, Charlotte K CK; El Harchi, Aziza A; Cheng, Hongwei H; Witchel, Harry J HJ; Dempsey, Chris E CE; Hancox, Jules C JC

Publication Date: 2016-08-01

Variant appearance in text: HERG: L532P

PubMed Link: 27256139

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• main.pdf

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Parameter Estimation of Ion Current Formulations Requires Hybrid Optimization Approach to Be Both Accurate and Reliable.

Frontiers In Bioengineering And Biotechnology

Loewe, Axel A; Wilhelms, Mathias M; Schmid, Jochen J; Krause, Mathias J MJ; Fischer, Fathima F; Thomas, Dierk D; Scholz, Eberhard P EP; Dössel, Olaf O; Seemann, Gunnar G

Publication Date: 2015

Variant appearance in text: HERG: L532P

PubMed Link: 26793704

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• fbioe-03-00209.pdf

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hERG potassium channel blockade by the HCN channel inhibitor bradycardic agent ivabradine.

Journal Of The American Heart Association

Melgari, Dario D; Brack, Kieran E KE; Zhang, Chuan C; Zhang, Yihong Y; El Harchi, Aziza A; Mitcheson, John S JS; Dempsey, Christopher E CE; Ng, G André GA; Hancox, Jules C JC

Publication Date: 2015-04-24

Variant appearance in text: HERG: L532P

PubMed Link: 25911606

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• jah3-4-e001813.pdf

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Suppression of the hERG potassium channel response to premature stimulation by reduction in extracellular potassium concentration.

Physiological Reports

Melgari, Dario D; Du, Chunyun C; El Harchi, Aziza A; Zhang, Yihong Y; Hancox, Jules C JC

Publication Date: 2014-10-01

Variant appearance in text: HERG: L532P

PubMed Link: 25318749

Variant Present in the following documents:

• phy2-2-e12165.pdf

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Ranolazine inhibition of hERG potassium channels: drug-pore interactions and reduced potency against inactivation mutants.

Journal Of Molecular And Cellular Cardiology

Du, Chunyun C; Zhang, Yihong Y; El Harchi, Aziza A; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2014-09

Variant appearance in text: HERG: L532P

PubMed Link: 24877995

Variant Present in the following documents:

• mmc1.pdf

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Action potential clamp and pharmacology of the variant 1 Short QT Syndrome T618I hERG K⁺ channel.

Plos One

El Harchi, Aziza A; Melgari, Dario D; Zhang, Yi Hong YH; Zhang, Henggui H; Hancox, Jules C JC

Publication Date: 2012

Variant appearance in text: KCNH2: L532P

PubMed Link: 23300672

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• Main text
• pone.0052451.pdf

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The hERG K(+) channel S4 domain L532P mutation: characterization at 37°C.

Biochimica Et Biophysica Acta

Zhang, Yi H YH; Colenso, Charlotte K CK; Sessions, Richard B RB; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2011-10

Variant appearance in text: LQT2: L532P

PubMed Link: 21777565

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