Publications:

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Cardiomyocyte electrophysiology and its modulation: current views and future prospects.

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

Huang, Christopher L-H CL; Lei, Ming M

Publication Date: 2023-06-19

Variant appearance in text: RYR2: P2328S

PubMed Link: 37122224

Variant Present in the following documents:

• rstb.2022.0160.pdf

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Feedback contributions to excitation-contraction coupling in native functioning striated muscle.

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

Salvage, Samantha C SC; Dulhunty, Angela F AF; Jeevaratnam, Kamalan K; Jackson, Antony P AP; Huang, Christopher L-H CL

Publication Date: 2023-06-19

Variant appearance in text: RYR2: P2328S

PubMed Link: 37122213

Variant Present in the following documents:

• rstb.2022.0162.pdf

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Correction: "Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Cell Death & Disease

Sleiman, Yvonne Y; Lacampagne, Alain A; Meli, Albano C AC

Publication Date: 2022-11-30

Variant appearance in text: RYR2: P2328S

PubMed Link: 36450727

Variant Present in the following documents:

• Main text
• 41419_2022_Article_5468.pdf

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A novel mutation in ryanodine receptor 2 (RYR2) genes at c.12670G>T associated with focal epilepsy in a 3-year-old child.

Frontiers In Pediatrics

Hu, Junji J; Gao, Xueping X; Chen, Longchang L; Zhou, Tianshu T; Du, Zhaoli Z; Jiang, Jinghan J; Wei, Lei L; Zhang, Zhijun Z

Publication Date: 2022

Variant appearance in text: RYR2: P2328S

PubMed Link: 36340715

Variant Present in the following documents:

• fped-10-1022268.pdf

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Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review.

Life (Basel, Switzerland)

Leung, Justin J; Lee, Sharen S; Zhou, Jiandong J; Jeevaratnam, Kamalan K; Lakhani, Ishan I; Radford, Danny D; Coakley-Youngs, Emma E; Pay, Levent L; Çinier, Göksel G; Altinsoy, Meltem M; Behnoush, Amir Hossein AH; Mahmoudi, Elham E; Matusik, Paweł T PT; Bazoukis, George G; Garcia-Zamora, Sebastian S; Zeng, Shaoying S; Chen, Ziliang Z; Xia, Yunlong Y; Liu, Tong T; Tse, Gary G

Publication Date: 2022-07-22

Variant appearance in text: RYR2: P2328S

PubMed Link: 35892906

Variant Present in the following documents:

• life-12-01104.pdf

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How does flecainide impact RyR2 channel function?

The Journal Of General Physiology

Salvage, Samantha C SC; Huang, Christopher L-H CL; Fraser, James A JA; Dulhunty, Angela F AF

Publication Date: 2022-09-05

Variant appearance in text: RYR2: P2328S

PubMed Link: 35713932

Variant Present in the following documents:

• JGP_202213089.pdf

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Molecular Changes in the Cardiac RyR2 With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).

Frontiers In Physiology

Dulhunty, Angela F AF

Publication Date: 2022

Variant appearance in text: RYR2: P2328S

PubMed Link: 35222090

Variant Present in the following documents:

• fphys-13-830367.pdf

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"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Cell Death & Disease

Sleiman, Yvonne Y; Lacampagne, Alain A; Meli, Albano C AC

Publication Date: 2021-11-01

Variant appearance in text: RYR2: P2328S

PubMed Link: 34725342

Variant Present in the following documents:

• Main text
• 41419_2021_Article_4337.pdf

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"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Cell Death & Disease

Sleiman, Yvonne Y; Lacampagne, Alain A; Meli, Albano C AC

Publication Date: 2021-11-01

Variant appearance in text: RYR2: P2328S

PubMed Link: 34725342

Variant Present in the following documents:

• Main text
• 41419_2021_Article_4337.pdf

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Ca2+-dependent modulation of voltage-gated myocyte sodium channels.

Biochemical Society Transactions

Salvage, Samantha C SC; Habib, Zaki F ZF; Matthews, Hugh R HR; Jackson, Antony P AP; Huang, Christopher L-H CL

Publication Date: 2021-11-01

Variant appearance in text: RYR2: P2328S

PubMed Link: 34643236

Variant Present in the following documents:

• Main text
• BST-49-1941.pdf

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Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.

Frontiers In Pharmacology

Song, Junxia J; Luo, Yanhong Y; Jiang, Ying Y; He, Jianfeng J

Publication Date: 2021

Variant appearance in text: RYR2: P2328S

PubMed Link: 34483927

Variant Present in the following documents:

• Main text
• fphar-12-718208.pdf

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Flecainide Paradoxically Activates Cardiac Ryanodine Receptor Channels under Low Activity Conditions: A Potential Pro-Arrhythmic Action.

Cells

Salvage, Samantha C SC; Gallant, Esther M EM; Fraser, James A JA; Huang, Christopher L-H CL; Dulhunty, Angela F AF

Publication Date: 2021-08-16

Variant appearance in text: RYR2: P2328S

PubMed Link: 34440870

Variant Present in the following documents:

• cells-10-02101.pdf

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Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation.

Plos One

Koponen, Mikael M; Marjamaa, Annukka A; Tuiskula, Annukka M AM; Viitasalo, Matti M; Nallinmaa-Luoto, Terhi T; Leinonen, Jaakko T JT; Widen, Elisabeth E; Toivonen, Lauri L; Kontula, Kimmo K; Swan, Heikki H

Publication Date: 2020

Variant appearance in text: RYR2: 6982C>T; Pro2328Ser

PubMed Link: 33315912

Variant Present in the following documents:

• Main text
• pone.0243649.pdf

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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: RYR2: P2328S

PubMed Link: 32784971

Variant Present in the following documents:

• Main text
• ijms-21-05717.pdf

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From Genome-Wide Association Studies to Cardiac Electrophysiology: Through the Maze of Biological Complexity.

Frontiers In Physiology

Scholman, Koen T KT; Meijborg, Veronique M F VMF; Gálvez-Montón, Carolina C; Lodder, Elisabeth M EM; Boukens, Bastiaan J BJ

Publication Date: 2020

Variant appearance in text: RYR2: P2328S

PubMed Link: 32536879

Variant Present in the following documents:

• fphys-11-00557.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: RYR2: P2328S

PubMed Link: 32180835

Variant Present in the following documents:

• Main text

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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: RYR2: P2328S

PubMed Link: 31963859

Variant Present in the following documents:

• Main text
• ijms-21-00657.pdf

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Molecular basis of arrhythmic substrate in ageing murine peroxisome proliferator-activated receptor γ co-activator deficient hearts modelling mitochondrial dysfunction.

Bioscience Reports

Edling, Charlotte E CE; Fazmin, Ibrahim T IT; Saadeh, Khalil K; Chadda, Karan R KR; Ahmad, Shiraz S; Valli, Haseeb H; Huang, Christopher L-H CL; Jeevaratnam, Kamalan K

Publication Date: 2019-12-20

Variant appearance in text: RYR2: P2328S

PubMed Link: 31778152

Variant Present in the following documents:

• Main text
• bsr-39-bsr20190403.pdf

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Safety and efficacy of flecainide for patients with catecholaminergic polymorphic ventricular tachycardia: A systematic review and meta-analysis.

Medicine

Wang, Guangqiang G; Zhao, Na N; Zhong, Shu S; Wang, Yingrong Y; Li, Jianping J

Publication Date: 2019-08

Variant appearance in text: RYR2: P2328S

PubMed Link: 31441899

Variant Present in the following documents:

• medi-98-e16961.pdf

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A calcium transport mechanism for atrial fibrillation in Tbx5-mutant mice.

Elife

Dai, Wenli W; Laforest, Brigitte B; Tyan, Leonid L; Shen, Kaitlyn M KM; Nadadur, Rangarajan D RD; Alvarado, Francisco J FJ; Mazurek, Stefan R SR; Lazarevic, Sonja S; Gadek, Margaret M; Wang, Yitang Y; Li, Ye Y; Valdivia, Hector H HH; Shen, Le L; Broman, Michael T MT; Moskowitz, Ivan P IP; Weber, Christopher R CR

Publication Date: 2019-03-21

Variant appearance in text: RYR2: P2328S

PubMed Link: 30896405

Variant Present in the following documents:

• Main text

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Sodium current inhibition following stimulation of exchange protein directly activated by cyclic-3',5'-adenosine monophosphate (Epac) in murine skeletal muscle.

Scientific Reports

Matthews, Hugh R HR; Tan, Sapphire R X SRX; Shoesmith, Jonathan A JA; Ahmad, Shiraz S; Valli, Haseeb H; Jeevaratnam, Kamalan K; Huang, Christopher L-H CL

Publication Date: 2019-02-13

Variant appearance in text: RYR2: P2328S

PubMed Link: 30760734

Variant Present in the following documents:

• 41598_2018_Article_36386.pdf

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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: RYR2: P2328S

PubMed Link: 29976690

Variant Present in the following documents:

• Main text

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CRISPR/Cas9 Gene editing of RyR2 in human stem cell-derived cardiomyocytes provides a novel approach in investigating dysfunctional Ca2+ signaling.

Cell Calcium

Wei, Hua H; Zhang, Xiao-Hua XH; Clift, Cassandra C; Yamaguchi, Naohiro N; Morad, Martin M

Publication Date: 2018-07

Variant appearance in text: RYR2: P2328S

PubMed Link: 29730419

Variant Present in the following documents:

• Main text

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Epac-induced ryanodine receptor type 2 activation inhibits sodium currents in atrial and ventricular murine cardiomyocytes.

Clinical And Experimental Pharmacology & Physiology

Valli, Haseeb H; Ahmad, Shiraz S; Sriharan, Sujan S; Dean, Lydia D LD; Grace, Andrew A AA; Jeevaratnam, Kamalan K; Matthews, Hugh R HR; Huang, Christopher L-H CL

Publication Date: 2018-03

Variant appearance in text: RYR2: P2328S

PubMed Link: 29027245

Variant Present in the following documents:

• CEP-45-278.pdf

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The Promise and Challenge of Induced Pluripotent Stem Cells for Cardiovascular Applications.

Jacc. Basic To Translational Science

Youssef, Amr A AA; Ross, Elsie Gyang EG; Bolli, Roberto R; Pepine, Carl J CJ; Leeper, Nicholas J NJ; Yang, Phillip C PC

Publication Date: 2016-10

Variant appearance in text: RYR2: P2328S

PubMed Link: 28580434

Variant Present in the following documents:

• Main text
• main.pdf

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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

Variant appearance in text: RYR2: P2328S

PubMed Link: 28573431

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: RYR2: 6982C>T; Pro2328Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Multiple targets for flecainide action: implications for cardiac arrhythmogenesis.

British Journal Of Pharmacology

Salvage, Samantha C SC; Chandrasekharan, Karthik H KH; Jeevaratnam, Kamalan K; Dulhunty, Angela F AF; Thompson, Andrew J AJ; Jackson, Antony P AP; Huang, Christopher L-H CL

Publication Date: 2018-04

Variant appearance in text: RYR2: P2328S

PubMed Link: 28369767

Variant Present in the following documents:

• Main text

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Arrhythmic effects of Epac-mediated ryanodine receptor activation in Langendorff-perfused murine hearts are associated with reduced conduction velocity.

Clinical And Experimental Pharmacology & Physiology

Li, Mengye M; Hothi, Sandeep S SS; Salvage, Samantha C SC; Jeevaratnam, Kamalan K; Grace, Andrew A AA; Huang, Christopher L-H CL

Publication Date: 2017-06

Variant appearance in text: RYR2: P2328S

PubMed Link: 28316073

Variant Present in the following documents:

• CEP-44-686.pdf

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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: RYR2: P2328S

PubMed Link: 27974512

Variant Present in the following documents:

• Main text

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Cardiac disease and arrhythmogenesis: Mechanistic insights from mouse models.

International Journal Of Cardiology. Heart & Vasculature

Choy, Lois L; Yeo, Jie Ming JM; Tse, Vivian V; Chan, Shing Po SP; Tse, Gary G

Publication Date: 2016-09

Variant appearance in text: RYR2: P2328S

PubMed Link: 27766308

Variant Present in the following documents:

• Main text

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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

Variant appearance in text: RYR2: P2328S

PubMed Link: 27335446

Variant Present in the following documents:

• Main text

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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: RYR2: P2328S

PubMed Link: 27110425

Variant Present in the following documents:

• 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

Variant appearance in text: RYR2: P2328S

PubMed Link: 27009425

Variant Present in the following documents:

• Main text

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Calcium signaling in human stem cell-derived cardiomyocytes: Evidence from normal subjects and CPVT afflicted patients.

Cell Calcium

Zhang, Xiao-Hua XH; Morad, Martin M

Publication Date: 2016-03

Variant appearance in text: RYR2: P2328S

PubMed Link: 26725479

Variant Present in the following documents:

• Main text

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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: ARVD2: P2328S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: RYR2: P2328S

PubMed Link: 26274955

Variant Present in the following documents:

• ijms-16-18894-s001.xlsx, sheet 1

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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: RYR2: P2328S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Flecainide exerts paradoxical effects on sodium currents and atrial arrhythmia in murine RyR2-P2328S hearts.

Acta Physiologica (Oxford, England)

Salvage, S C SC; King, J H JH; Chandrasekharan, K H KH; Jafferji, D I G DI; Guzadhur, L L; Matthews, H R HR; Huang, C L-H CL; Fraser, J A JA

Publication Date: 2015-07

Variant appearance in text: RYR2: P2328S

PubMed Link: 25850710

Variant Present in the following documents:

• Main text
• apha0214-0361.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: RYR2: P2328S

PubMed Link: 25815118

Variant Present in the following documents:

• Main text

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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

Variant appearance in text: RYR2: P2328S

PubMed Link: 25074263

Variant Present in the following documents:

• Main text

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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: RYR2: P2328S

PubMed Link: 24800237

Variant Present in the following documents:

• Main text
• BMRI2014-512831.pdf

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Modeling heart disease in a dish: from somatic cells to disease-relevant cardiomyocytes.

Trends In Cardiovascular Medicine

Zanella, Fabian F; Lyon, Robert C RC; Sheikh, Farah F

Publication Date: 2014-01

Variant appearance in text: RYR2: P2328S

PubMed Link: 24054750

Variant Present in the following documents:

• Main text

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Calcium signalling of human pluripotent stem cell-derived cardiomyocytes.

The Journal Of Physiology

Li, Sen S; Chen, Gaopeng G; Li, Ronald A RA

Publication Date: 2013-11-01

Variant appearance in text: RYR2: P2328S

PubMed Link: 24018947

Variant Present in the following documents:

• Main text

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Ca2+ signaling in human induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) from normal and catecholaminergic polymorphic ventricular tachycardia (CPVT)-afflicted subjects.

Cell Calcium

Zhang, X-H XH; Haviland, S S; Wei, H H; Sarić, T T; Fatima, A A; Hescheler, J J; Cleemann, L L; Morad, M M

Publication Date: 2013-08

Variant appearance in text: RYR2: P2328S

PubMed Link: 23684427

Variant Present in the following documents:

• Main text

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Induced pluripotent stem cells in cardiovascular drug discovery.

Circulation Research

Mercola, Mark M; Colas, Alexandre A; Willems, Erik E

Publication Date: 2013-02-01

Variant appearance in text: RYR2: P2328S

PubMed Link: 23371902

Variant Present in the following documents:

• Main text

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Cell model of catecholaminergic polymorphic ventricular tachycardia reveals early and delayed afterdepolarizations.

Plos One

Kujala, Kirsi K; Paavola, Jere J; Lahti, Anna A; Larsson, Kim K; Pekkanen-Mattila, Mari M; Viitasalo, Matti M; Lahtinen, Annukka M AM; Toivonen, Lauri L; Kontula, Kimmo K; Swan, Heikki H; Laine, Mika M; Silvennoinen, Olli O; Aalto-Setälä, Katriina K

Publication Date: 2012

Variant appearance in text: RYR2: P2328S

PubMed Link: 22962621

Variant Present in the following documents:

• pone.0044660.pdf

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Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.

Circulation Research

Priori, Silvia G SG; Chen, S R Wayne SR

Publication Date: 2011-04-01

Variant appearance in text: RYR2: P2328S

PubMed Link: 21454795

Variant Present in the following documents:

• Main text

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Acute atrial arrhythmogenicity and altered Ca(2+) homeostasis in murine RyR2-P2328S hearts.

Cardiovascular Research

Zhang, Yanmin Y; Fraser, James A JA; Jeevaratnam, Kamalan K; Hao, Xiaojin X; Hothi, Sandeep S SS; Grace, Andrew A AA; Lei, Ming M; Huang, Christopher L-H CL

Publication Date: 2011-03-01

Variant appearance in text: RYR2: P2328S

PubMed Link: 20621925

Variant Present in the following documents:

• cvq229.pdf

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Ryanodine receptor studies using genetically engineered mice.

Febs Letters

Kushnir, Alexander A; Betzenhauser, Matthew J MJ; Marks, Andrew R AR

Publication Date: 2010-05-17

Variant appearance in text: ARVD2: P2328S

PubMed Link: 20214899

Variant Present in the following documents:

• Main text

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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Journal Of The American College Of Cardiology

Medeiros-Domingo, Argelia A; Bhuiyan, Zahurul A ZA; Tester, David J DJ; Hofman, Nynke N; Bikker, Hennie H; van Tintelen, J Peter JP; Mannens, Marcel M A M MM; Wilde, Arthur A M AA; Ackerman, Michael J MJ

Publication Date: 2009-11-24

Variant appearance in text: RYR2: P2328S

PubMed Link: 19926015

Variant Present in the following documents:

• Main text

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Ryanodine receptor-mediated arrhythmias and sudden cardiac death.

Pharmacology & Therapeutics

Blayney, Lynda M LM; Lai, F Anthony FA

Publication Date: 2009-08

Variant appearance in text: ARVD2: P2328S

PubMed Link: 19345240

Variant Present in the following documents:

• Main text

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: RYR2: P2328S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 2
• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

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Physiological consequences of the P2328S mutation in the ryanodine receptor (RyR2) gene in genetically modified murine hearts.

Acta Physiologica (Oxford, England)

Goddard, C A CA; Ghais, N S NS; Zhang, Y Y; Williams, A J AJ; Colledge, W H WH; Grace, A A AA; Huang, C L-H CL

Publication Date: 2008-10

Variant appearance in text: RYR2: P2328S

PubMed Link: 18419777

Variant Present in the following documents:

• Main text
• aps0194-0123.pdf

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Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy.

The Journal Of Molecular Diagnostics : Jmd

Creighton, Wendy W; Virmani, Renu R; Kutys, Robert R; Burke, Allen A

Publication Date: 2006-02

Variant appearance in text: RYR2: P2328S

PubMed Link: 16436635

Variant Present in the following documents:

• Main text

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Localization of a disease-associated mutation site in the three-dimensional structure of the cardiac muscle ryanodine receptor.

The Journal Of Biological Chemistry

Liu, Zheng Z; Wang, Ruiwu R; Zhang, Jing J; Chen, S R Wayne SR; Wagenknecht, Terence T

Publication Date: 2005-11-11

Variant appearance in text: ARVD2: P2328S

PubMed Link: 16157601

Variant Present in the following documents:

• Main text

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