| 1 | RYR2, VTSIP1
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| Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release.
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| Søndergaard MT, Tian X, Liu Y, Wang R, Chazin WJ, Chen SR, Overgaard MT.
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| J Biol Chem 290(43):26151-62. doi: 10.1074/jbc.M115.676627. Epub 2015 Aug 26.
2015
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| 2 | RYR2, VTSIP1
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| A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium.
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| Meli AC, Refaat MM, Dura M, Reiken S, Wronska A, Wojciak J, Carroll J, Scheinman MM, Marks AR.
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| Circ Res 109(3):281-90. Epub 2011 Jun 9.
2011
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| 3 | RYR2, VTSIP1
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| Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.
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| Bhuiyan ZA, van den Berg MP, van Tintelen JP, Bink-Boelkens MT, Wiesfeld AC, Alders M, Postma AV, van Langen I, Mannens MM, Wilde AA.
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| Circulation 116(14):1569-76. Epub 2007 Sep 17.
2007
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| 4 | CASQ1, CASQ2, VTSIP1, VTSIP2
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| Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia.
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| Song L, Alcalai R, Arad M, Wolf CM, Toka O, Conner DA, Berul CI, Eldar M, Seidman CE, Seidman JG.
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| J Clin Invest 117(7):1814-23.
2007
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| 5 | CASQ2, VTSIP1
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| Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.
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| di Barletta MR, Viatchenko-Karpinski S, Nori A, Memmi M, Terentyev D, Turcato F, Valle G, Rizzi N, Napolitano C, Gyorke S, Volpe P, Priori SG.
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| Circulation 114(10):1012-9. Epub 2006 Aug 14. 2006
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| 6 | RYR2, VTSIP1
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| Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model.
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| Liu N, Colombi B, Memmi M, Zissimopoulos S, Rizzi N, Negri S, Imbriani M, Napolitano C, Lai FA, Priori SG.
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| Circ Res 99(3):292-8. Epub 2006 Jul 6.
2006
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| 7 | VTSIP1, CASQ2
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| A missense mutation in the CASQ2 gene is associated with autosomal-recessive catecholamine-induced polymorphic ventricular tachycardia.
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| Eldar M, Pras E, Lahat H.
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| Trends Cardiovasc Med 13(4):148-51. Review. 2003
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| 8 | RYR2, VTSIP1
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| Ryanodine receptors, FKBP12, and heart failure.
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| Marks AR.
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| Front Biosci 7:d970-7. Review.
2002
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| 9 | CASQ2, VTSIP1
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| Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21.
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| Lahat H, Eldar M, Levy-Nissenbaum E, Bahan T, Friedman E, Khoury A, Lorber A, Kastner DL, Goldman B, Pras E.
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| Circulation 103(23):2822-7. 2001
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