Publications:

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Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine

Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J

Publication Date: 2022

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PubMed Link: 35647048

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• fcvm-09-889519.pdf

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Fenestropathy of Voltage-Gated Sodium Channels.

Frontiers In Pharmacology

Gamal El-Din, Tamer M TM; Lenaeus, Michael J MJ

Publication Date: 2022

Variant appearance in text: Nav1.5: V1763M

PubMed Link: 35222049

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• fphar-13-842645.pdf

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN5A: V1763M

PubMed Link: 35037686

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• awac006_Supplementary_Data.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: SCN5A: V1763M

PubMed Link: 33959219

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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: SCN5A: V1763M

PubMed Link: 32431610

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

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Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases.

European Cardiology

Nakao, Shu S; Ihara, Dai D; Hasegawa, Koji K; Kawamura, Teruhisa T

Publication Date: 2020-02

Variant appearance in text: SCN5A: V1763M

PubMed Link: 32180835

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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: SCN5A: V1763M

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: LQT3: V1763M

PubMed Link: 31664757

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• STEM-38-174-s001.pdf

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Mexiletine infusion challenge test for neonatal long QT syndrome with 2:1 atrioventricular block.

Journal Of Arrhythmia

Okuwaki, Hajime H; Kato, Yoshiaki Y; Lin, Lisheng L; Nozaki, Yoshihiro Y; Takahashi-Igari, Miho M; Horigome, Hitoshi H

Publication Date: 2019-08

Variant appearance in text: SCN5A: Val1763Met

PubMed Link: 31410243

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• Main text
• JOA3-35-685.pdf

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Multiple mechanisms underlie increased cardiac late sodium current.

Heart Rhythm

Kroncke, Brett M BM; Yang, Tao T; Roden, Dan M DM

Publication Date: 2019-07

Variant appearance in text: LQT3: V1763M

PubMed Link: 30677491

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

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PubMed Link: 30665703

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• mmc3.xlsx, sheet 1

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Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Models for Cardiac Channelopathies: A Primer for Non-Electrophysiologists.

Circulation Research

Garg, Priyanka P; Garg, Vivek V; Shrestha, Rajani R; Sanguinetti, Michael C MC; Kamp, Timothy J TJ; Wu, Joseph C JC

Publication Date: 2018-07-06

Variant appearance in text: SCN5A: V1763M

PubMed Link: 29976690

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Distinct modulation of inactivation by a residue in the pore domain of voltage-gated Na+ channels: mechanistic insights from recent crystal structures.

Scientific Reports

Cervenka, Rene R; Lukacs, Peter P; Gawali, Vaibhavkumar S VS; Ke, Song S; Koenig, Xaver X; Rubi, Lena L; Zarrabi, Touran T; Hilber, Karlheinz K; Sandtner, Walter W; Stary-Weinzinger, Anna A; Todt, Hannes H

Publication Date: 2018-01-12

Variant appearance in text: Nav1.5: V1763M

PubMed Link: 29330525

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• Main text
• 41598_2017_Article_18919.pdf

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Phenotypic variability in LQT3 human induced pluripotent stem cell-derived cardiomyocytes and their response to antiarrhythmic pharmacologic therapy: An in silico approach.

Heart Rhythm

Paci, Michelangelo M; Passini, Elisa E; Severi, Stefano S; Hyttinen, Jari J; Rodriguez, Blanca B

Publication Date: 2017-11

Variant appearance in text: LQT3: V1763M

PubMed Link: 28756098

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Human iPSC-Derived Cardiomyocytes for Investigation of Disease Mechanisms and Therapeutic Strategies in Inherited Arrhythmia Syndromes: Strengths and Limitations.

Cardiovascular Drugs And Therapy

Casini, Simona S; Verkerk, Arie O AO; Remme, Carol Ann CA

Publication Date: 2017-06

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PubMed Link: 28721524

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Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Cellular And Molecular Life Sciences : Cmls

Giacomelli, E E; Mummery, C L CL; Bellin, M M

Publication Date: 2017-10

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PubMed Link: 28573431

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• Main text
• 18_2017_Article_2546.pdf

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: LQT3: V1763M

PubMed Link: 28150151

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Murine Electrophysiological Models of Cardiac Arrhythmogenesis.

Physiological Reviews

Huang, Christopher L-H CL

Publication Date: 2017-01

Variant appearance in text: SCN5A: V1763M

PubMed Link: 27974512

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Human Induced Pluripotent Stem Cells as a Platform for Personalized and Precision Cardiovascular Medicine.

Physiological Reviews

Matsa, Elena E; Ahrens, John H JH; Wu, Joseph C JC

Publication Date: 2016-07

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PubMed Link: 27335446

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Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Afford New Opportunities in Inherited Cardiovascular Disease Modeling.

Cardiology Research And Practice

Bayzigitov, Daniel R DR; Medvedev, Sergey P SP; Dementyeva, Elena V EV; Bayramova, Sevda A SA; Pokushalov, Evgeny A EA; Karaskov, Alexander M AM; Zakian, Suren M SM

Publication Date: 2016

Variant appearance in text: SCN5A: V1763M

PubMed Link: 27110425

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• Main text
• CRP2016-3582380.pdf

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Induced pluripotent stem cells: at the heart of cardiovascular precision medicine.

Nature Reviews. Cardiology

Chen, Ian Y IY; Matsa, Elena E; Wu, Joseph C JC

Publication Date: 2016-06

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PubMed Link: 27009425

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology

Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F

Publication Date: 2015

Variant appearance in text: Nav1.5: V1763M

PubMed Link: 26834636

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• Main text
• fphar-06-00314.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT3: V1763M

PubMed Link: 26659599

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• pone.0144692.s002.xlsx, sheet 1

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Cardiovascular Disease Modeling Using Patient-Specific Induced Pluripotent Stem Cells.

International Journal Of Molecular Sciences

Tanaka, Atsushi A; Yuasa, Shinsuke S; Node, Koichi K; Fukuda, Keiichi K

Publication Date: 2015-08-12

Variant appearance in text: SCN5A: V1763M

PubMed Link: 26274955

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• ijms-16-18894-s001.xlsx, sheet 1

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Clinical Potentials of Cardiomyocytes Derived from Patient-Specific Induced Pluripotent Stem Cells.

Journal Of Clinical Medicine

Ng, Kwong-Man KM; Law, Cheuk-Yiu CY; Tse, Hung-Fat HF

Publication Date: 2014-10-15

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PubMed Link: 26237594

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN5A: V1763M

PubMed Link: 26206375

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• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.

Journal Of Interventional Cardiac Electrophysiology : An International Journal Of Arrhythmias And Pacing

Milanesi, Raffaella R; Bucchi, Annalisa A; Baruscotti, Mirko M

Publication Date: 2015-08

Variant appearance in text: LQT3: V1763M

PubMed Link: 25863800

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• Main text
• 10840_2015_Article_9998.pdf

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Cardiac disease modeling using induced pluripotent stem cell-derived human cardiomyocytes.

World Journal Of Stem Cells

Dell'Era, Patrizia P; Benzoni, Patrizia P; Crescini, Elisabetta E; Valle, Matteo M; Xia, Er E; Consiglio, Antonella A; Memo, Maurizio M

Publication Date: 2015-03-26

Variant appearance in text: SCN5A: V1763M

PubMed Link: 25815118

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Pluripotent stem cells as a platform for cardiac arrhythmia drug screening.

Current Treatment Options In Cardiovascular Medicine

Leyton-Mange, Jordan S JS; Milan, David J DJ

Publication Date: 2014-09

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PubMed Link: 25074263

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Human pluripotent stem cell-derived cardiomyocytes as research and therapeutic tools.

Biomed Research International

Acimovic, Ivana I; Vilotic, Aleksandra A; Pesl, Martin M; Lacampagne, Alain A; Dvorak, Petr P; Rotrekl, Vladimir V; Meli, Albano C AC

Publication Date: 2014

Variant appearance in text: LQT3: V1763M

PubMed Link: 24800237

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• Main text
• BMRI2014-512831.pdf

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Modeling inherited cardiac disorders.

Circulation Journal : Official Journal Of The Japanese Circulation Society

Sallam, Karim K; Kodo, Kazuki K; Wu, Joseph C JC

Publication Date: 2014

Variant appearance in text: SCN5A: V1763M

PubMed Link: 24632794

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Enhanced impact of SCN5A mutation associated with long QT syndrome in fetal splice isoform.

Heart Rhythm

Wang, Tiannan T; Wehrens, Xander H T XH

Publication Date: 2012-04

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PubMed Link: 22138134

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• Main text
• nihms661770.pdf

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Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels.

American Journal Of Physiology. Heart And Circulatory Physiology

Huang, Hai H; Priori, Silvia G SG; Napolitano, Carlo C; O'Leary, Michael E ME; Chahine, Mohamed M

Publication Date: 2011-01

Variant appearance in text: LQT3: V1763M

PubMed Link: 21076026

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