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Volumn 29, Issue 8, 2013, Pages 993-996

S4153R Is a gain-of-function mutation in the cardiac Ca2+ release channel ryanodine receptor associated with catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; RYANODINE; RYANODINE RECEPTOR 2; TRITIUM;

EID: 84881030282     PISSN: 0828282X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cjca.2012.12.019     Document Type: Article
Times cited : (34)

References (15)
  • 1
    • 0035895322 scopus 로고    scopus 로고
    • Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
    • Priori S.G., Napolitano C., Tiso N., et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001, 103:196-200.
    • (2001) Circulation , vol.103 , pp. 196-200
    • Priori, S.G.1    Napolitano, C.2    Tiso, N.3
  • 2
    • 84866739941 scopus 로고    scopus 로고
    • Inherited calcium channelopathies in the pathophysiology of arrhythmias. Nature reviews
    • Venetucci L., Denegri M., Napolitano C., Priori S.G. Inherited calcium channelopathies in the pathophysiology of arrhythmias. Nature reviews. Cardiology 2012, 9:561-575.
    • (2012) Cardiology , vol.9 , pp. 561-575
    • Venetucci, L.1    Denegri, M.2    Napolitano, C.3    Priori, S.G.4
  • 3
    • 79957978324 scopus 로고    scopus 로고
    • Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper
    • Gollob M.H., Blier L., Brugada R., et al. Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. Can J Cardiol 2011, 27:232-245.
    • (2011) Can J Cardiol , vol.27 , pp. 232-245
    • Gollob, M.H.1    Blier, L.2    Brugada, R.3
  • 4
    • 79954594124 scopus 로고    scopus 로고
    • Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis
    • Priori S.G., Chen S.R. Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis. Circ Res 2011, 108:871-883.
    • (2011) Circ Res , vol.108 , pp. 871-883
    • Priori, S.G.1    Chen, S.R.2
  • 5
    • 82155192337 scopus 로고    scopus 로고
    • Anovel mutation in the RYR2 gene leading to catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation: dose-dependent arrhythmia-event suppression by β-blocker therapy
    • e7-10
    • Kazemian P., Gollob M.H., Pantano A., Oudit G.Y. Anovel mutation in the RYR2 gene leading to catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation: dose-dependent arrhythmia-event suppression by β-blocker therapy. Can J Cardiol 2011, 27. 870.e7-10.
    • (2011) Can J Cardiol , vol.27 , pp. 870
    • Kazemian, P.1    Gollob, M.H.2    Pantano, A.3    Oudit, G.Y.4
  • 6
    • 71849090068 scopus 로고    scopus 로고
    • The ryr2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long qt syndrome: a comprehensive open reading frame mutational analysis
    • Medeiros-Domingo A., Bhuiyan Z.A., Tester D.J., et al. The ryr2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long qt syndrome: a comprehensive open reading frame mutational analysis. JAm Coll Cardiol 2009, 54:2065-2074.
    • (2009) JAm Coll Cardiol , vol.54 , pp. 2065-2074
    • Medeiros-Domingo, A.1    Bhuiyan, Z.A.2    Tester, D.J.3
  • 7
    • 84856044640 scopus 로고    scopus 로고
    • How much is enough? weighing the evidence for mutation pathogenicity
    • author reply, e9-10
    • Dzwiniel T.L., Gilchrist D.M., Hume S. How much is enough? weighing the evidence for mutation pathogenicity. Can J Cardiol 2012, 28:119.e9. author reply, e9-10.
    • (2012) Can J Cardiol , vol.28
    • Dzwiniel, T.L.1    Gilchrist, D.M.2    Hume, S.3
  • 8
    • 4444357245 scopus 로고    scopus 로고
    • RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced ca2+ release (SOICR)
    • Jiang D., Xiao B., Yang D., et al. RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced ca2+ release (SOICR). Proc Natl Acad Sci U S A 2004, 101:13062-13067.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 13062-13067
    • Jiang, D.1    Xiao, B.2    Yang, D.3
  • 9
    • 43549109826 scopus 로고    scopus 로고
    • Endoplasmic reticulum ca2+ measurements reveal that the cardiac ryanodine receptor mutations linked to cardiac arrhythmia and sudden death alter the threshold for store-overload-induced ca2+ release
    • Jones P.P., Jiang D., Bolstad J., et al. Endoplasmic reticulum ca2+ measurements reveal that the cardiac ryanodine receptor mutations linked to cardiac arrhythmia and sudden death alter the threshold for store-overload-induced ca2+ release. Biochem J 2008, 412:171-178.
    • (2008) Biochem J , vol.412 , pp. 171-178
    • Jones, P.P.1    Jiang, D.2    Bolstad, J.3
  • 10
    • 79951894322 scopus 로고    scopus 로고
    • The ryanodine receptor channel as a molecular motif in atrial fibrillation: pathophysiological and therapeutic implications
    • Dobrev D., Voigt N., Wehrens X.H. The ryanodine receptor channel as a molecular motif in atrial fibrillation: pathophysiological and therapeutic implications. Cardiovasc Res 2011, 89:734-743.
    • (2011) Cardiovasc Res , vol.89 , pp. 734-743
    • Dobrev, D.1    Voigt, N.2    Wehrens, X.H.3
  • 11
    • 80053084941 scopus 로고    scopus 로고
    • Postpacing abnormal repolarization in catecholaminergic polymorphic ventricular tachycardia associated with a mutation in the cardiac ryanodine receptor gene
    • Nof E., Belhassen B., Arad M., et al. Postpacing abnormal repolarization in catecholaminergic polymorphic ventricular tachycardia associated with a mutation in the cardiac ryanodine receptor gene. Heart Rhythm 2011, 8:1546-1552.
    • (2011) Heart Rhythm , vol.8 , pp. 1546-1552
    • Nof, E.1    Belhassen, B.2    Arad, M.3
  • 12
    • 84865801030 scopus 로고    scopus 로고
    • Modeling of catecholaminergic polymorphic ventricular tachycardia with patient-specific human-induced pluripotent stem cells
    • Itzhaki I., Maizels L., Huber I., et al. Modeling of catecholaminergic polymorphic ventricular tachycardia with patient-specific human-induced pluripotent stem cells. JAm Coll Cardiol 2012, 60:990-1000.
    • (2012) JAm Coll Cardiol , vol.60 , pp. 990-1000
    • Itzhaki, I.1    Maizels, L.2    Huber, I.3
  • 13
    • 84860338741 scopus 로고    scopus 로고
    • Enhanced sarcoplasmic reticulum Ca2+ leak and increased Na+-Ca2+ exchanger function underlie delayed afterdepolarizations in patients with chronic atrial fibrillation
    • Voigt N., Li N., Wang Q., et al. Enhanced sarcoplasmic reticulum Ca2+ leak and increased Na+-Ca2+ exchanger function underlie delayed afterdepolarizations in patients with chronic atrial fibrillation. Circulation 2012, 125:2059-2070.
    • (2012) Circulation , vol.125 , pp. 2059-2070
    • Voigt, N.1    Li, N.2    Wang, Q.3
  • 14
    • 84865863426 scopus 로고    scopus 로고
    • Calcium leak through ryanodine receptors leads to atrial fibrillation in 3 mouse models of catecholaminergic polymorphic ventricular tachycardia
    • Shan J., Xie W., Betzenhauser M., et al. Calcium leak through ryanodine receptors leads to atrial fibrillation in 3 mouse models of catecholaminergic polymorphic ventricular tachycardia. Circ Res 2012, 111:708-717.
    • (2012) Circ Res , vol.111 , pp. 708-717
    • Shan, J.1    Xie, W.2    Betzenhauser, M.3
  • 15
    • 0035969990 scopus 로고    scopus 로고
    • Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
    • Laitinen P.J., Brown K.M., Piippo K., et al. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001, 103:485-490.
    • (2001) Circulation , vol.103 , pp. 485-490
    • Laitinen, P.J.1    Brown, K.M.2    Piippo, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.