PMC Links for Gene (Select 6262) - PMC

Marissa J. Stutzman, C.S. John Kim, David J. Tester, Samantha K. Hamrick, Steven M. Dotzler, John R. Giudicessi, Marco C. Miotto, Jeevan B. GC, Joachim Frank, Andrew R. Marks, Michael J. Ackerman

Stem Cell Reports. 2022 Sep 13; 17(9): 2023–2036. Published online 2022 Aug 4. doi: 10.1016/j.stemcr.2022.07.002

PMCID:: PMC9481874

Abstract Article PDF–2.4M

Select item 93942834.

Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease

Ewan Douglas Fowler, Spyros Zissimopoulos

Biomolecules. 2022 Aug; 12(8): 1030. Published online 2022 Jul 26. doi: 10.3390/biom12081030

PMCID:: PMC9394283

Abstract Article PDF–1.8M

Select item 90179755.

Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling

Claire Hopton, Anke J. Tijsen, Leonid Maizels, Gil Arbel, Amira Gepstein, Nicola Bates, Benjamin Brown, Irit Huber, Susan J. Kimber, William G. Newman, Luigi Venetucci, Lior Gepstein

Physiol Rep. 2022 Apr; 10(8): e15265. Published online 2022 Apr 19. doi: 10.14814/phy2.15265

Correction in:: Physiol Rep. 2022 Aug; 10(15): e15428.

PMCID:: PMC9017975

Abstract Article PDF–2.0M

Select item 89653876.

RYR2 mutation in non‐small cell lung cancer prolongs survival via down‐regulation of DKK1 and up‐regulation of GS1‐115G20.1: A weighted gene Co‐expression network analysis and risk prognostic models

Wenjun Ren, Yongwu Li, Xi Chen, Sheng Hu, Wanli Cheng, Yu Cao, Jingcheng Gao, Xia Chen, Da Xiong, Hongrong Li, Ping Wang

IET Syst Biol. 2022 Apr; 16(2): 43–58. Published online 2021 Dec 7. doi: 10.1049/syb2.12038

PMCID:: PMC8965387

Abstract Article PDF–3.4M

Select item 87525067.

Mutation in RyR2-FKBP Binding site alters Ca²⁺ signaling modestly but increases “arrhythmogenesis” in human Stem Cells derived Cardiomyocytes

José-Carlos Fernández-Morales, Yanli Xia, Taylor J. Rienzo, Xiao-Hua Zhang, Martin Morad

Cell Calcium. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Cell Calcium. 2022 Jan; 101: 102500. Published online 2021 Nov 8. doi: 10.1016/j.ceca.2021.102500

PMCID:: PMC8752506

Abstract Article PDF–2.7M

Select item 86513858.

Bioinformatic Analysis of Immune Significance of RYR2 Mutation in Breast Cancer

Zhiquan Xu, Ling Xiang, Rong Wang, Yongfu Xiong, He Zhou, Haitao Gu, Jijian Wang, Linglong Peng

Biomed Res Int. 2021; 2021: 8072796. Published online 2021 Nov 3. doi: 10.1155/2021/8072796

PMCID:: PMC8651385

Abstract Article PDF–4.3M

Select item 85671909.

Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome

Thomas M. Roston, Jinhong Wei, Wenting Guo, Yanhui Li, Xiaowei Zhong, Ruiwu Wang, John Paul Estillore, Puck J. Peltenburg, Ferran Rosés I. Noguer, Jan Till, Lee L. Eckhardt, Kate M. Orland, Robert Hamilton, Martin J. LaPage, Andrew D. Krahn, Rafik Tadros, Jeffrey M. Vinocur, Dania Kallas, Sonia Franciosi, Jason D. Roberts, Arthur A. M. Wilde, Henrik K. Jensen, Shubhayan Sanatani, S. R. Wayne Chen

JAMA Cardiol. 2022 Jan; 7(1): 1–9. Published online 2021 Nov 3. doi: 10.1001/jamacardio.2021.4458

PMCID:: PMC8567190

Abstract Article

Select item 832024310.

Impaired Binding to Junctophilin2 and Nanostructural Alteration in CPVT Mutation

Liheng Yin, Alexandra Zahradnikova, Jr, Riccardo Rizzetto, Simona Boncompagni, Camille Rabesahala de Meritens, Yadan Zhang, Pierre Joanne, Elena Marqués-Sulé, Yuriana Aguilar-Sánchez, Miguel Fernández-Tenorio, Olivier Villejoubert, Linwei Li, Yue Yi Wang, Philippe Mateo, Valérie Nicolas, Pascale Gerbaud, F. Anthony Lai, Romain Perrier, Julio L Álvarez, Ernst Niggli, Héctor H Valdivia, Carmen R. Valdivia, Josefina Ramos-Franco, Esther Zorio, Spyros Zissimopoulos, Feliciano Protasi, Jean-Pierre Benitah, Ana M Gómez

Circ Res. Author manuscript; available in PMC 2022 Jul 23.

Published in final edited form as: Circ Res. 2021 Jul 23; 129(3): e35–e52. Published online 2021 Jun 11. doi: 10.1161/CIRCRESAHA.121.319094

PMCID:: PMC8320243

Abstract Article PDF–2.4M

Select item 817419811.

Novel RyR2 Mutation (G3118R) Is Associated With Autosomal Recessive Ventricular Fibrillation and Sudden Death: Clinical, Functional, and Computational Analysis

Ayelet Shauer, Oded Shor, Jinhong Wei, Yair Elitzur, Nataly Kucherenko, Ruiwu Wang, S. R. Wayne Chen, Yulia Einav, David Luria

J Am Heart Assoc. 2021 Mar 16; 10(6): e017128. Published online 2021 Mar 9. doi: 10.1161/JAHA.120.017128

PMCID:: PMC8174198

Abstract Article PDF–1.4M

Select item 806295812.

Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death

Xiaowei Zhong, Wenting Guo, Jinhong Wei, Yijun Tang, Yingjie Liu, Joe Z. Zhang, Vern Hsen Tan, Lin Zhang, Ruiwu Wang, Peter P. Jones, Carlo Napolitano, Silvia G. Priori, S.R. Wayne Chen

Biosci Rep. 2021 Apr 30; 41(4): BSR20210209. Published online 2021 Apr 22. doi: 10.1042/BSR20210209

PMCID:: PMC8062958

Abstract Article PDF–1.8M

Select item 789895913.

Identification of an amino-terminus determinant critical for ryanodine receptor/Ca²⁺ release channel function

Monika Seidel, Camille Rabesahala de Meritens, Louisa Johnson, Dimitris Parthimos, Mark Bannister, Nia Lowri Thomas, Esizaze Ozekhome-Mike, Francis Anthony Lai, Spyros Zissimopoulos

Cardiovasc Res. 2021 Mar 1; 117(3): 780–791. Published online 2020 Feb 20. doi: 10.1093/cvr/cvaa043

PMCID:: PMC7898959

Abstract Article PDF–1023K

Select item 773563814.

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

Mikael Koponen, Annukka Marjamaa, Annukka M. Tuiskula, Matti Viitasalo, Terhi Nallinmaa-Luoto, Jaakko T. Leinonen, Elisabeth Widen, Lauri Toivonen, Kimmo Kontula, Heikki Swan

PLoS One. 2020; 15(12): e0243649. Published online 2020 Dec 14. doi: 10.1371/journal.pone.0243649

PMCID:: PMC7735638

Abstract Article PDF–675K

Select item 766797415.

The central domain of cardiac ryanodine receptor governs channel activation, regulation, and stability

Wenting Guo, Bo Sun, John Paul Estillore, Ruiwu Wang, S. R. Wayne Chen

J Biol Chem. 2020 Nov 13; 295(46): 15622–15635. Published online 2020 Sep 2. doi: 10.1074/jbc.RA120.013512

PMCID:: PMC7667974

Abstract Article PDF–4.0M

Select item 752289216.

The functional significance of redox-mediated intersubunit cross-linking in regulation of human type 2 ryanodine receptor

Roman Nikolaienko, Elisa Bovo, Robyn T. Rebbeck, Daniel Kahn, David D. Thomas, Razvan L. Cornea, Aleksey V. Zima

Redox Biol. 2020 Oct; 37: 101729. Published online 2020 Sep 15. doi: 10.1016/j.redox.2020.101729

PMCID:: PMC7522892

Abstract Article PDF–3.8M

Select item 745507317.

Molecular characterization of the calcium release channel deficiency syndrome

David J. Tester, CS John Kim, Samantha K. Hamrick, Dan Ye, Bailey J. O’Hare, Hannah M. Bombei, Kristi K. Fitzgerald, Carla M. Haglund-Turnquist, Dianne L. Atkins, Luis A. Ochoa Nunez, Ian Law, Joel Temple, Michael J. Ackerman

JCI Insight. 2020 Aug 6; 5(15): e135952. Published online 2020 Aug 6. doi: 10.1172/jci.insight.135952

PMCID:: PMC7455073

Abstract Article PDF–26M

Select item 719644818.

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four‐generation Canadian family

Matthew Tung, Filip Van Petegem, Samantha Lauson, Ashley Collier, Kathy Hodgkinson, Bridget Fernandez, Sean Connors, Rick Leather, Shubhayan Sanatani, Laura Arbour

Mol Genet Genomic Med. 2020 Apr; 8(4): e1151. Published online 2020 Jan 28. doi: 10.1002/mgg3.1151

PMCID:: PMC7196448

Abstract Article PDF–1.0M

Select item 699065419.

Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community

David J. Tester, Hannah M. Bombei, Kristi K. Fitzgerald, John R. Giudicessi, Beth A. Pitel, Erik C. Thorland, Barbara G. Russell, Samantha K. Hamrick, C. S. John Kim, Carla M. Haglund-Turnquist, Christopher L. Johnsrude, Dianne L. Atkins, Luis A. Ochoa Nunez, Ian Law, Joel Temple, Michael J. Ackerman

JAMA Cardiol. 2020 Mar; 5(3): 13–18. Published online 2020 Jan 8. doi: 10.1001/jamacardio.2019.5400

PMCID:: PMC6990654

Abstract Article

Select item 693269820.

A Family with Recurrent Sudden Death and No Clinical Clue

Michael Arad, Michael Glikson, Dalia El‐Ani, Lorenzo Monserrat‐Inglesias

Ann Noninvasive Electrocardiol. 2012 Oct; 17(4): 387–393. Published online 2012 Oct 25. doi: 10.1111/anec.12024

PMCID:: PMC6932698

Abstract Article PDF–883K

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