PMC Links for GEO Profiles (Select 81594953) - PMC

Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert

Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644

PMCID:: PMC10565876

Abstract Article PDF–3.7M

Select item 103720214.

Cysteines 1078 and 2991 cross-linking plays a critical role in redox regulation of cardiac ryanodine receptor (RyR)

Roman Nikolaienko, Elisa Bovo, Daniel Kahn, Ryan Gracia, Thomas Jamrozik, Aleksey V. Zima

Nat Commun. 2023; 14: 4498. Published online 2023 Jul 26. doi: 10.1038/s41467-023-40268-z

PMCID:: PMC10372021

Abstract Article PDF–1.7M

Select item 102333055.

Ryanodine receptor 2 (RYR2) dysfunction activates the unfolded protein response and perturbs cardiomyocyte maturation

Yuxuan Guo, Yangpo Cao, Blake D Jardin, Xiaoran Zhang, Pingzhu Zhou, Silvia Guatimosim, Junsen Lin, Zhan Chen, Yueyang Zhang, Neil Mazumdar, Fujian Lu, Qing Ma, Yao-Wei Lu, Mingming Zhao, Da-Zhi Wang, Erdan Dong, William T Pu

Cardiovasc Res. 2023 Jan; 119(1): 221–235. Published online 2022 May 16. doi: 10.1093/cvr/cvac077

PMCID:: PMC10233305

Abstract Article PDF–2.0M

Select item 101502016.

Patient-specific induced pluripotent stem cell properties implicate Ca²⁺-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants

Yafei Zhou, Wenjun Huang, Leiying Liu, Anmao Li, Congshan Jiang, Rui Zhou, Jie Wang, Xiaoqiu Tan, Christopher L.-H. Huang, Yanmin Zhang

Philos Trans R Soc Lond B Biol Sci. June 19, 2023; 378(1879): 20220175. Published online May 01, 2023. doi: 10.1098/rstb.2022.0175

PMCID:: PMC10150201

Abstract Article PDF–996K

Select item 100612907.

Ryanodine receptor 2 promotes colorectal cancer metastasis by the ROS/BACH1 axis

Tianwei Chen, Xilin Zhang, Xufen Ding, Jing Feng, Xueli Zhang, Dong Xie, Xiang Wang

Mol Oncol. 2023 Apr; 17(4): 695–709. Published online 2022 Dec 21. doi: 10.1002/1878-0261.13350

PMCID:: PMC10061290

Abstract Article PDF–6.9M

Select item 94818748.

Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential

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 94339389.

Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB

Fu‐Long Li, Zhengming Wu, Yong‐Qi Gao, Forrest Z Bowling, J Matthew Franklin, Chongze Hu, Raymond T Suhandynata, Michael A Frohman, Michael V Airola, Huilin Zhou, Kun‐Liang Guan

EMBO J. 2022 Sep; 41(17): e110698. Published online 2022 Jul 17. doi: 10.15252/embj.2022110698

PMCID:: PMC9433938

Abstract Article PDF–9.3M

Select item 939428310.

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 909562311.

RyR2/IRBIT regulates insulin gene transcript, insulin content, and secretion in the insulinoma cell line INS-1

Kyle E. Harvey, Emily K. LaVigne, Mohd Saleem Dar, Amy E. Salyer, Evan P. S. Pratt, Paxton A. Sample, Uma K. Aryal, Humaira Gowher, Gregory H. Hockerman

Sci Rep. 2022; 12: 7713. Published online 2022 May 11. doi: 10.1038/s41598-022-11276-8

PMCID:: PMC9095623

Abstract Article PDF–3.2M

Select item 901797512.

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 899637413.

The V2475F CPVT1 mutation yields distinct RyR2 channel populations that differ in their responses to cytosolic Ca²⁺ and Mg²⁺

Abigail D. Wilson, Jianshu Hu, Charalampos Sigalas, Elisa Venturi, Héctor H. Valdivia, Carmen R. Valdivia, Ming Lei, Maria Musgaard, Rebecca Sitsapesan

J Physiol. Author manuscript; available in PMC 2022 Apr 11.

Published in final edited form as: J Physiol. 2021 Dec; 599(23): 5179–5201. Published online 2021 Nov 9. doi: 10.1113/JP281707

PMCID:: PMC8996374

Abstract Article PDF–4.1M

Select item 896538714.

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 875250615.

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 865138516.

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 856719017.

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 836418118.

Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry

Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang

Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118

PMCID:: PMC8364181

Abstract Article PDF–3.0M

Select item 832024319.

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 817419820.

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

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