| 1 | CASQ2, VTSIP2
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| Calsequestrin 2 deletion causes sinoatrial node dysfunction and atrial arrhythmias associated with altered sarcoplasmic reticulum calcium cycling and degenerative fibrosis within the mouse atrial pacemaker complex.
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| Glukhov AV, Kalyanasundaram A, Lou Q, Hage LT, Hansen BJ, Belevych AE, Mohler PJ, Knollmann BC, Periasamy M, Györke S, Fedorov VV.
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| Eur Heart J ur Heart J. 2013 Nov 11. [Epub ahead of print]
2013
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| 2 | CASQ2, VTSIP2
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| The role of mutant protein level in autosomal recessive catecholamine dependent polymorphic ventricular tachycardia (CPVT2).
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| Katz G, Shainberg A, Hochhauser E, Kurtzwald-Josefson E, Issac A, El-Ani D, Aravot D, Afek A, Seidman JG, Seidman CE, Eldar M, Arad M.
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| Biochem Pharmacol 86(11):1576-83. doi: 10.1016/j.bcp.2013.09.012. Epub 2013 Sep 23.
2013
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| 3 | CASQ2, VTSIP2
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| Importance of ventricular tachycardia storms not terminated by implantable cardioverter defibrillators shocks in patients with CASQ2 associated catecholaminergic polymorphic ventricular tachycardia.
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| Marai I, Khoury A, Suleiman M, Gepstein L, Blich M, Lorber A, Boulos M.
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| Am J Cardiol 110(1):72-6. doi: 10.1016/j.amjcard.2012.02.049. Epub 2012 Apr 3.
2012
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| 4 | CASQ2, VTSIP2
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| Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
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| Roux-Buisson N, Rendu J, Denjoy I, Guicheney P, Goldenberg A, David N, Faivre L, Barthez O, Danieli GA, Marty I, Lunardi J, Fauré J.
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| Hum Mutat um Mutat. 2011 May 26. doi: 10.1002/humu.21537. [Epub ahead of print]
2011
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| 5 | 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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| 6 | RYR2, VTSIP2
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| Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.
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| Postma AV, Denjoy I, Kamblock J, Alders M, Lupoglazoff JM, Vaksmann G, Dubosq-Bidot L, Sebillon P, Mannens MM, Guicheney P, Wilde AA.
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| J Med Genet 42(11):863-70. 2005
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| 7 | RYR2, VTSIP2
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| RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR).
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| Jiang D, Xiao B, Yang D, Wang R, Choi P, Zhang L, Cheng H, Chen SR.
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| Proc Natl Acad Sci U S A 101(35):13062-7. Epub 2004 Aug 20. 2004
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| 8 | VTSIP2, ARVD2, FKBP1B, RYR2
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| The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations.
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| Tiso N, Salamon M, Bagattin A, Danieli GA, Argenton F, Bortolussi M.
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| Biochem Biophys Res Commun 299(4):594-8. 2002
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| 9 | CAPZA1, CASQ2, TSPAN2, VTSIP2
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| A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.
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| Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, Lancet D, Eldar M.
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| Am J Hum Genet 69(6):1378-84. 2001
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| 10 | ARVT, RYR2, VTSIP2
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| Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts.
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| Swan H, Piippo K, Viitasalo M, Heikkila P, Paavonen T, Kainulainen K, Kere J, Keto P, Kontula K, Toivonen L.
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| J Am Coll Cardiol 34(7):2035-42. 1999
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