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: KCNH2: T618I

PubMed Link: 37122211

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• Main text
• rstb.2022.0165.pdf

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Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

Medrxiv : The Preprint Server For Health Sciences

Josephs, Katherine S KS; Roberts, Angharad M AM; Theotokis, Pantazis P; Walsh, Roddy R; Ostrowski, Philip J PJ; Edwards, Matthew M; Fleming, Andrew A; Thaxton, Courtney C; Roberts, Jason D JD; Care, Melanie M; Zareba, Wojciech W; Adler, Arnon A; Sturm, Amy C AC; Tadros, Rafik R; Novelli, Valeria V; Owens, Emma E; Bronicki, Lucas L; Jarinova, Olga O; Callewaert, Bert B; Peters, Stacey S; Lumbers, Tom T; Jordan, Elizabeth E; Asatryan, Babken B; Krishnan, Neesha N; Hershberger, Ray E RE; Chahal, C Anwar A CAA; Landstrom, Andrew P AP; James, Cynthia C; McNally, Elizabeth M EM; Judge, Daniel P DP; van Tintelen, Peter P; Wilde, Arthur A; Gollob, Michael M; Ingles, Jodie J; Ware, James S JS

Publication Date: 2023-04-03

Variant appearance in text: KCNH2: Thr618Ile

PubMed Link: 37066275

Variant Present in the following documents:

• media-2.xlsx, sheet 2

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In silico mechanisms of arsenic trioxide-induced cardiotoxicity.

Frontiers In Physiology

Li, Yacong Y; Wan, Runlan R; Liu, Jun J; Liu, Weichao W; Ma, Lei L; Zhang, Henggui H

Publication Date: 2022

Variant appearance in text: KCNH2: T618I

PubMed Link: 36589437

Variant Present in the following documents:

• fphys-13-1004605.pdf

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Computational analysis of arrhythmogenesis in KCNH2 T618I mutation-associated short QT syndrome and the pharmacological effects of quinidine and sotalol.

Npj Systems Biology And Applications

Zhang, Shugang S; Lu, Weigang W; Yang, Fei F; Li, Zhen Z; Wang, Shuang S; Jiang, Mingjian M; Wang, Xiaofeng X; Wei, Zhiqiang Z

Publication Date: 2022-11-04

Variant appearance in text: KCNH2: T618I

PubMed Link: 36333337

Variant Present in the following documents:

• Main text
• 41540_2022_Article_254.pdf
• 41540_2022_254_MOESM1_ESM.pdf

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Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Biomedicines

Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G

Publication Date: 2022-01-05

Variant appearance in text: KCNH2: T618I

PubMed Link: 35052786

Variant Present in the following documents:

• Main text
• biomedicines-10-00106.pdf

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Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Biomedicines

Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G

Publication Date: 2022-01-05

Variant appearance in text: KCNH2: T618I

PubMed Link: 35052786

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• Main text
• biomedicines-10-00106.pdf

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Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.

European Heart Journal

Walsh, Roddy R; Adler, Arnon A; Amin, Ahmad S AS; Abiusi, Emanuela E; Care, Melanie M; Bikker, Hennie H; Amenta, Simona S; Feilotter, Harriet H; Nannenberg, Eline A EA; Mazzarotto, Francesco F; Trevisan, Valentina V; Garcia, John J; Hershberger, Ray E RE; Perez, Marco V MV; Sturm, Amy C AC; Ware, James S JS; Zareba, Wojciech W; Novelli, Valeria V; Wilde, Arthur A M AAM; Gollob, Michael H MH

Publication Date: 2022-04-14

Variant appearance in text: KCNH2: Thr618Ile

PubMed Link: 34557911

Variant Present in the following documents:

• Main text
• ehab687.pdf
• ehab687_supplementary_data.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: T618I

PubMed Link: 34135774

Variant Present in the following documents:

• Main text
• fphys-12-681943.pdf

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Patient-specific induced pluripotent stem cells as "disease-in-a-dish" models for inherited cardiomyopathies and channelopathies - 15 years of research.

World Journal Of Stem Cells

Micheu, Miruna Mihaela MM; Rosca, Ana-Maria AM

Publication Date: 2021-04-26

Variant appearance in text: KCNH2: T618I

PubMed Link: 33959219

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• Main text

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Ionic Mechanisms of Disopyramide Prolonging Action Potential Duration in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1.

Frontiers In Pharmacology

Lan, Huan H; Xu, Qiang Q; El-Battrawy, Ibrahim I; Zhong, Rujia R; Li, Xin X; Lang, Siegfried S; Cyganek, Lukas L; Borggrefe, Martin M; Zhou, Xiaobo X; Akin, Ibrahim I

Publication Date: 2020

Variant appearance in text: HERG: T618I

PubMed Link: 33154722

Variant Present in the following documents:

• fphar-11-554422.pdf

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The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.

International Journal Of Molecular Sciences

Pourrier, Marc M; Fedida, David D

Publication Date: 2020-01-19

Variant appearance in text: KCNH2: T618I

PubMed Link: 31963859

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• Main text
• ijms-21-00657.pdf

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Inherited cardiac diseases, pluripotent stem cells, and genome editing combined-the past, present, and future.

Stem Cells (Dayton, Ohio)

van den Brink, Lettine L; Grandela, Catarina C; Mummery, Christine L CL; Davis, Richard P RP

Publication Date: 2020-02

Variant appearance in text: LQT2: T618I

PubMed Link: 31664757

Variant Present in the following documents:

• STEM-38-174-s001.pdf

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Impact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome.

Frontiers In Pharmacology

El-Battrawy, Ibrahim I; Besler, Johanna J; Li, Xin X; Lan, Huan H; Zhao, Zhihan Z; Liebe, Volker V; Schimpf, Rainer R; Lang, Siegfried S; Wolpert, Christian C; Zhou, Xiaobo X; Akin, Ibrahim I; Borggrefe, Martin M

Publication Date: 2019

Variant appearance in text: KCNH2: T618I

PubMed Link: 31427960

Variant Present in the following documents:

• Main text
• fphar-10-00771.pdf

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Molecular Insights into the Short QT Syndrome.

The Journal Of Innovations In Cardiac Rhythm Management

Perike, Srikanth S; McCAULEY, Mark D MD

Publication Date: 2018-03

Variant appearance in text: KCNH2: T618I

PubMed Link: 31355049

Variant Present in the following documents:

• Main text
• icrm-09-3065.pdf

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Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Journal Of Clinical Medicine

Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà, Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2019-07-16

Variant appearance in text: KCNH2: Thr618Ile; rs199472947

PubMed Link: 31315195

Variant Present in the following documents:

• Main text

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The Pore-Lipid Interface: Role of Amino-Acid Determinants of Lipophilic Access by Ivabradine to the hERG1 Pore Domain.

Molecular Pharmacology

Perissinotti, Laura L; Guo, Jiqing J; Kudaibergenova, Meruyert M; Lees-Miller, James J; Ol'khovich, Marina M; Sharapova, Angelica A; Perlovich, German L GL; Muruve, Daniel A DA; Gerull, Brenda B; Noskov, Sergei Yu SY; Duff, Henry J HJ

Publication Date: 2019-08

Variant appearance in text: Kv11.1: T618I

PubMed Link: 31182542

Variant Present in the following documents:

• Main text

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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: T618I

PubMed Link: 31049424

Variant Present in the following documents:

• Main text
• main.pdf

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Recent Advances in Short QT Syndrome.

Frontiers In Cardiovascular Medicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2018

Variant appearance in text: KCNH2: T618I

PubMed Link: 30420954

Variant Present in the following documents:

• Main text
• fcvm-05-00149.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

Variant appearance in text: HERG: T618I

PubMed Link: 29545312

Variant Present in the following documents:

• 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: KCNH2: T618I

PubMed Link: 29085299

Variant Present in the following documents:

• fphys-08-00759.pdf

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The Pharmacogenomics of a Mutation 'Hotspot' for the Short QT Syndrome.

Jacc. Clinical Electrophysiology

Darbar, Dawood D; McCauley, Mark M

Publication Date: 2017-07

Variant appearance in text: KCNH2: T618I

PubMed Link: 28966985

Variant Present in the following documents:

• Main text

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The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene.

Heartrhythm Case Reports

Giustetto, Carla C; Scrocco, Chiara C; Giachino, Daniela D; Rapezzi, Claudio C; Mognetti, Barbara B; Gaita, Fiorenzo F

Publication Date: 2015-09

Variant appearance in text: KCNH2: T618I

PubMed Link: 28491588

Variant Present in the following documents:

• Main text
• 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: HERG: T618I

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

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Molecular basis of hERG potassium channel blockade by the class Ic antiarrhythmic flecainide.

Journal Of Molecular And Cellular Cardiology

Melgari, Dario D; Zhang, Yihong Y; El Harchi, Aziza A; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2015-09

Variant appearance in text: HERG: T618I

PubMed Link: 26159617

Variant Present in the following documents:

• main.pdf

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HERG1 channel agonists and cardiac arrhythmia.

Current Opinion In Pharmacology

Sanguinetti, Michael C MC

Publication Date: 2014-04

Variant appearance in text: KCNH2: T618I

PubMed Link: 24721650

Variant Present in the following documents:

• Main text

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Novel insight into the natural history of short QT syndrome.

Journal Of The American College Of Cardiology

Mazzanti, Andrea A; Kanthan, Ajita A; Monteforte, Nicola N; Memmi, Mirella M; Bloise, Raffaella R; Novelli, Valeria V; Miceli, Carlotta C; O'Rourke, Sean S; Borio, Gianluca G; Zienciuk-Krajka, Agnieszka A; Curcio, Antonio A; Surducan, Andreea Elena AE; Colombo, Mario M; Napolitano, Carlo C; Priori, Silvia G SG

Publication Date: 2014-04-08

Variant appearance in text: KCNH2: T618I

PubMed Link: 24291113

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• Main text

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Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating.

The Journal Of Biological Chemistry

Perry, Matthew D MD; Ng, Chai Ann CA; Vandenberg, Jamie I JI

Publication Date: 2013-04-19

Variant appearance in text: Kv11.1: T618I

PubMed Link: 23471968

Variant Present in the following documents:

• Main text

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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: T618I

PubMed Link: 23300672

Variant Present in the following documents:

• Main text
• pone.0052451.pdf

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Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.

Nature Reviews. Cardiology

Giudicessi, John R JR; Ackerman, Michael J MJ

Publication Date: 2012-01-31

Variant appearance in text: KCNH2: Thr618Ile

PubMed Link: 22290238

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• Main text

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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: T618I

PubMed Link: 21777565

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• Main text

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Interactions of H562 in the S5 helix with T618 and S621 in the pore helix are important determinants of hERG1 potassium channel structure and function.

Biophysical Journal

Lees-Miller, James P JP; Subbotina, Julia O JO; Guo, Jiqing J; Yarov-Yarovoy, Vladimir V; Noskov, Sergei Y SY; Duff, Henry J HJ

Publication Date: 2009-05-06

Variant appearance in text: HERG: T618I

PubMed Link: 19413965

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• Main text

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