| RYR2 Variant and Sudden Death in Patients With Dilated Cardiomyopathy. | RYR2 Variant and Sudden Death in Patients With Dilated Cardiomyopathy.
Ben-Haim Y, Bird M, Johnson D, Mohiddin S, Favaloro L, Dyrberg Andersen J, Sheppard MN, Pittman A, Futema M, Behr ER. | 03/15/2024 |
| Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene. | Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene.
Bansal V, Winkelmann BR, Dietrich JW, Boehm BO., Free PMC Article | 03/7/2024 |
| Point mutations in RyR2 Ca2+-binding residues of human cardiomyocytes cause cellular remodelling of cardiac excitation contraction-coupling. | Point mutations in RyR2 Ca2+-binding residues of human cardiomyocytes cause cellular remodelling of cardiac excitation contraction-coupling.
Xia Y, Zhang XH, Yamaguchi N, Morad M., | 03/1/2024 |
| Pediatric myasthenia gravis with a combination of AChR and RyR is associated with an earlier onset and lower CSR rate: A cohort study in southwest China. | Pediatric myasthenia gravis with a combination of AChR and RyR is associated with an earlier onset and lower CSR rate: A cohort study in southwest China.
Liu J, Ma J, Hong S, Jiang L, Li T. | 12/20/2023 |
| Calcium Signaling Consequences of RyR2-S4938F Mutation Expressed in Human iPSC-Derived Cardiomyocytes. | Calcium Signaling Consequences of RyR2-S4938F Mutation Expressed in Human iPSC-Derived Cardiomyocytes.
Toth N, Zhang XH, Zamaro A, Morad M., Free PMC Article | 11/1/2023 |
| RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers. | RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers.
Tian S, Zhong X, Wang H, Wei J, Guo W, Wang R, Paul Estillore J, Napolitano C, Duff HH, Ilhan E, Knight LM, Lloyd MS, Roberts JD, Priori SG, Chen SRW. | 09/6/2023 |
| [Clinical and genetic analysis of five children with Catecholaminergic polymorphic ventricular tachycardia due to variants of RYR2 gene]. | [Clinical and genetic analysis of five children with Catecholaminergic polymorphic ventricular tachycardia due to variants of RYR2 gene].
Sun Q, Wang F, Zheng R, Xie Z, Jia L, Li D. | 08/4/2023 |
| Cysteines 1078 and 2991 cross-linking plays a critical role in redox regulation of cardiac ryanodine receptor (RyR). | Cysteines 1078 and 2991 cross-linking plays a critical role in redox regulation of cardiac ryanodine receptor (RyR).
Nikolaienko R, Bovo E, Kahn D, Gracia R, Jamrozik T, Zima AV., Free PMC Article | 07/31/2023 |
| Patient-specific induced pluripotent stem cell properties implicate Ca[2+]-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants. | Patient-specific induced pluripotent stem cell properties implicate Ca(2+)-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants.
Zhou Y, Huang W, Liu L, Li A, Jiang C, Zhou R, Wang J, Tan X, Huang CL, Zhang Y., Free PMC Article | 05/15/2023 |
| Ryanodine receptor 2 promotes colorectal cancer metastasis by the ROS/BACH1 axis. | Ryanodine receptor 2 promotes colorectal cancer metastasis by the ROS/BACH1 axis.
Chen T, Zhang X, Ding X, Feng J, Zhang X, Xie D, Wang X., Free PMC Article | 04/6/2023 |
| Life-threatening arrhythmogenic CaM mutations disrupt CaM binding to a distinct RyR2 CaM-binding pocket. | Life-threatening arrhythmogenic CaM mutations disrupt CaM binding to a distinct RyR2 CaM-binding pocket.
Thanassoulas A, Vassilakopoulou V, Calver BL, Buntwal L, Smith A, Lai C, Kontogianni I, Livaniou E, Nounesis G, Lai FA, Nomikos M. | 02/26/2023 |
| RyR2 Serine-2030 PKA Site Governs Ca[2+] Release Termination and Ca[2+] Alternans. | RyR2 Serine-2030 PKA Site Governs Ca(2+) Release Termination and Ca(2+) Alternans.
Wei J, Guo W, Wang R, Paul Estillore J, Belke D, Chen YX, Vallmitjana A, Benitez R, Hove-Madsen L, Chen SRW. | 02/4/2023 |
| A gain of function ryanodine receptor 2 mutation (R1760W-RyR2) in catecholaminergic polymorphic ventricular tachycardia. | A gain of function ryanodine receptor 2 mutation (R1760W-RyR2) in catecholaminergic polymorphic ventricular tachycardia.
Li S, Lv T, Yang J, Li K, Yang Y, Zhang P. | 12/24/2022 |
| Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential. | Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential.
Stutzman MJ, Kim CSJ, Tester DJ, Hamrick SK, Dotzler SM, Giudicessi JR, Miotto MC, Gc JB, Frank J, Marks AR, Ackerman MJ., Free PMC Article | 10/1/2022 |
| Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease. | Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.
Fowler ED, Zissimopoulos S., Free PMC Article | 08/6/2022 |
| Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling. | Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling.
Hopton C, Tijsen AJ, Maizels L, Arbel G, Gepstein A, Bates N, Brown B, Huber I, Kimber SJ, Newman WG, Venetucci L, Gepstein L., Free PMC Article | 04/30/2022 |
| 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. | 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.
Ren W, Li Y, Chen X, Hu S, Cheng W, Cao Y, Gao J, Chen X, Xiong D, Li H, Wang P., Free PMC Article | 04/16/2022 |
| Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome. | Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.
Hirose S, Murayama T, Tetsuo N, Hoshiai M, Kise H, Yoshinaga M, Aoki H, Fukuyama M, Wuriyanghai Y, Wada Y, Kato K, Makiyama T, Kimura T, Sakurai T, Horie M, Kurebayashi N, Ohno S. | 04/9/2022 |
| Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome. | Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.
Roston TM, Wei J, Guo W, Li Y, Zhong X, Wang R, Estillore JP, Peltenburg PJ, Noguer FRI, Till J, Eckhardt LL, Orland KM, Hamilton R, LaPage MJ, Krahn AD, Tadros R, Vinocur JM, Kallas D, Franciosi S, Roberts JD, Wilde AAM, Jensen HK, Sanatani S, Chen SRW., Free PMC Article | 02/26/2022 |
| Mutation in RyR2-FKBP Binding site alters Ca(2+) signaling modestly but increases ""arrhythmogenesis"" in human stem cells derived cardiomyocytes. | Mutation in RyR2-FKBP Binding site alters Ca(2+) signaling modestly but increases "arrhythmogenesis" in human stem cells derived cardiomyocytes.
Fernández-Morales JC, Xia Y, Renzo TJ, Zhang XH, Morad M., Free PMC Article | 02/5/2022 |
| Bioinformatic Analysis of Immune Significance of RYR2 Mutation in Breast Cancer. | Bioinformatic Analysis of Immune Significance of RYR2 Mutation in Breast Cancer.
Xu Z, Xiang L, Wang R, Xiong Y, Zhou H, Gu H, Wang J, Peng L., Free PMC Article | 01/22/2022 |
| Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation. | Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation.
Yin L, Zahradnikova A Jr, Rizzetto R, Boncompagni S, Rabesahala de Meritens C, Zhang Y, Joanne P, Marqués-Sulé E, Aguilar-Sánchez Y, Fernández-Tenorio M, Villejoubert O, Li L, Wang YY, Mateo P, Nicolas V, Gerbaud P, Lai FA, Perrier R, Álvarez JL, Niggli E, Valdivia HH, Valdivia CR, Ramos-Franco J, Zorio E, Zissimopoulos S, Protasi F, Benitah JP, Gómez AM., Free PMC Article | 01/15/2022 |
| Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant. | Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant.
Duvekot JC, Baas AF, Volker-Touw CML, Bikker H, Schroer C, Breur JMPJ. | 01/8/2022 |
| Identification of an amino-terminus determinant critical for ryanodine receptor/Ca2+ release channel function. | Identification of an amino-terminus determinant critical for ryanodine receptor/Ca2+ release channel function.
Seidel M, de Meritens CR, Johnson L, Parthimos D, Bannister M, Thomas NL, Ozekhome-Mike E, Lai FA, Zissimopoulos S., Free PMC Article | 01/8/2022 |
| Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization. | Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization.
Li Y, Wei J, Guo W, Sun B, Estillore JP, Wang R, Yoruk A, Roston TM, Sanatani S, Wilde AAM, Gollob MH, Roberts JD, Tseng ZH, Jensen HK, Chen SRW. | 01/1/2022 |