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23. 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 Biochem J; 2023 Sep; 480(17):1379-1395. PubMed ID: 37492947 [TBL] [Abstract][Full Text] [Related]
24. Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Tester DJ; Kopplin LJ; Will ML; Ackerman MJ Heart Rhythm; 2005 Oct; 2(10):1099-105. PubMed ID: 16188589 [TBL] [Abstract][Full Text] [Related]
25. Mutant ryanodine receptors in catecholaminergic polymorphic ventricular tachycardia generate delayed afterdepolarizations due to increased propensity to Ca2+ waves. Paavola J; Viitasalo M; Laitinen-Forsblom PJ; Pasternack M; Swan H; Tikkanen I; Toivonen L; Kontula K; Laine M Eur Heart J; 2007 May; 28(9):1135-42. PubMed ID: 17347175 [TBL] [Abstract][Full Text] [Related]
26. Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. Jiang D; Wang R; Xiao B; Kong H; Hunt DJ; Choi P; Zhang L; Chen SR Circ Res; 2005 Nov; 97(11):1173-81. PubMed ID: 16239587 [TBL] [Abstract][Full Text] [Related]
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28. Allele-Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene ( Bongianino R; Denegri M; Mazzanti A; Lodola F; Vollero A; Boncompagni S; Fasciano S; Rizzo G; Mangione D; Barbaro S; Di Fonso A; Napolitano C; Auricchio A; Protasi F; Priori SG Circ Res; 2017 Aug; 121(5):525-536. PubMed ID: 28620067 [TBL] [Abstract][Full Text] [Related]
29. Sudden infant death syndrome in mice with an inherited mutation in RyR2. Mathur N; Sood S; Wang S; van Oort RJ; Sarma S; Li N; Skapura DG; Bayle JH; Valderrábano M; Wehrens XH Circ Arrhythm Electrophysiol; 2009 Dec; 2(6):677-85. PubMed ID: 20009080 [TBL] [Abstract][Full Text] [Related]
30. Mechanisms of abnormal calcium homeostasis in mutations responsible for catecholaminergic polymorphic ventricular tachycardia. Iyer V; Hajjar RJ; Armoundas AA Circ Res; 2007 Feb; 100(2):e22-31. PubMed ID: 17234962 [TBL] [Abstract][Full Text] [Related]
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34. A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Tester DJ; Dura M; Carturan E; Reiken S; Wronska A; Marks AR; Ackerman MJ Heart Rhythm; 2007 Jun; 4(6):733-9. PubMed ID: 17556193 [TBL] [Abstract][Full Text] [Related]
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39. A knock-in mouse model of N-terminal R420W mutation of cardiac ryanodine receptor exhibits arrhythmogenesis with abnormal calcium dynamics in cardiomyocytes. Okudaira N; Kuwahara M; Hirata Y; Oku Y; Nishio H Biochem Biophys Res Commun; 2014 Sep; 452(3):665-8. PubMed ID: 25193700 [TBL] [Abstract][Full Text] [Related]
40. Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. Xiao Z; Guo W; Sun B; Hunt DJ; Wei J; Liu Y; Wang Y; Wang R; Jones PP; Back TG; Chen SRW J Biol Chem; 2016 Nov; 291(47):24528-24537. PubMed ID: 27733687 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]