메뉴 건너뛰기




Volumn 116, Issue 14, 2007, Pages 1569-1576

Expanding spectrum of human RYR2-related disease: New electrocardiographic, structural, and genetic features

Author keywords

Arrhythmia; Cardiomyopathy; Gene mapping; Genetics

Indexed keywords

RYANODINE RECEPTOR 2;

EID: 34848928486     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.107.711606     Document Type: Article
Times cited : (193)

References (22)
  • 1
    • 0028957403 scopus 로고
    • Catecholaminergic polymorphic ventricular tachycardia in children: A 7-year follow-up of 21 patients
    • Leenhardt A, Lucet V, Denjoy I, Grau F, Ngoc DD, Coumel P. Catecholaminergic polymorphic ventricular tachycardia in children: a 7-year follow-up of 21 patients. Circulation. 1995;91:1512-1519.
    • (1995) Circulation , vol.91 , pp. 1512-1519
    • Leenhardt, A.1    Lucet, V.2    Denjoy, I.3    Grau, F.4    Ngoc, D.D.5    Coumel, P.6
  • 3
    • 0035895322 scopus 로고    scopus 로고
    • Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
    • Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, Sorrentino V, Danieli GA. 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    Memmi, M.4    Vignati, G.5    Bloise, R.6    Sorrentino, V.7    Danieli, G.A.8
  • 6
    • 0035205336 scopus 로고    scopus 로고
    • 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
    • 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. 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. Am J Hum Genet. 2001;69:1378-1384.
    • (2001) Am J Hum Genet , vol.69 , pp. 1378-1384
    • Lahat, H.1    Pras, E.2    Olender, T.3    Avidan, N.4    Ben-Asher, E.5    Man, O.6    Levy-Nissenbaum, E.7    Khoury, A.8    Lorber, A.9    Goldman, B.10    Lancet, D.11    Eldar, M.12
  • 9
    • 7544230111 scopus 로고    scopus 로고
    • Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: A molecular autopsy of 49 medical examiner/coroner's cases
    • Tester DJ, Spoon DB, Valdivia HH, Makielski JC, Ackerman MJ. Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc. 2004;79:1380-1384.
    • (2004) Mayo Clin Proc , vol.79 , pp. 1380-1384
    • Tester, D.J.1    Spoon, D.B.2    Valdivia, H.H.3    Makielski, J.C.4    Ackerman, M.J.5
  • 10
    • 33750571687 scopus 로고    scopus 로고
    • Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphatics
    • Nishio H, Iwata M, Suzuki K. Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphatics. Circ J. 2006;70:1402-1406.
    • (2006) Circ J , vol.70 , pp. 1402-1406
    • Nishio, H.1    Iwata, M.2    Suzuki, K.3
  • 12
    • 0001793972 scopus 로고    scopus 로고
    • Specific arrhythmias: Diagnosis and treatment
    • Braunwald E, Zipes DP, Libby P, eds, Philadelphia, PA: WB Saunders Company;
    • Olgin JE, Zipes DP. Specific arrhythmias: diagnosis and treatment. In: Braunwald E, Zipes DP, Libby P, eds. Heart Disease: A Textbook of Cardiovascular Medicine. Philadelphia, PA: WB Saunders Company; 2001;815-899.
    • (2001) Heart Disease: A Textbook of Cardiovascular Medicine , pp. 815-899
    • Olgin, J.E.1    Zipes, D.P.2
  • 13
    • 0032934453 scopus 로고    scopus 로고
    • Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy
    • Mestroni L, Maisch B, McKenna WJ, Schwartz K, Charron P, Rocco C, Tesson F, Richter A, Wilke A, Komajda M. Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. Eur Heart J. 1999;20:93-102.
    • (1999) Eur Heart J , vol.20 , pp. 93-102
    • Mestroni, L.1    Maisch, B.2    McKenna, W.J.3    Schwartz, K.4    Charron, P.5    Rocco, C.6    Tesson, F.7    Richter, A.8    Wilke, A.9    Komajda, M.10
  • 15
    • 0034617175 scopus 로고    scopus 로고
    • Cardiac intracellular calcium release channels: Role in heart failure
    • Marks AR. Cardiac intracellular calcium release channels: role in heart failure. Circ Res. 2000;87:8-11.
    • (2000) Circ Res , vol.87 , pp. 8-11
    • Marks, A.R.1
  • 19
    • 0141571322 scopus 로고    scopus 로고
    • Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes
    • George CH, Higgs GV, Lai FA. Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes. Circ Res. 2003;93:531-540.
    • (2003) Circ Res , vol.93 , pp. 531-540
    • George, C.H.1    Higgs, G.V.2    Lai, F.A.3
  • 20
    • 0036921884 scopus 로고    scopus 로고
    • The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations
    • Tiso N, Salamon M, Bagattin A, Danieli GA, Argenton F, Bortolussi M. The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations. Biochem Biophys Res Commun. 2002;299:594-598.
    • (2002) Biochem Biophys Res Commun , vol.299 , pp. 594-598
    • Tiso, N.1    Salamon, M.2    Bagattin, A.3    Danieli, G.A.4    Argenton, F.5    Bortolussi, M.6
  • 21
    • 0031902327 scopus 로고    scopus 로고
    • Identification of Alu-mediated deletions in the Fanconi anemia gene FAA
    • Levran O, Doggett NA, Auerbach AD. Identification of Alu-mediated deletions in the Fanconi anemia gene FAA. Hum Mutat. 1998;12:145-152.
    • (1998) Hum Mutat , vol.12 , pp. 145-152
    • Levran, O.1    Doggett, N.A.2    Auerbach, A.D.3
  • 22
    • 0023252353 scopus 로고
    • A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease
    • Myerowitz R, Hogikyan ND. A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease. J Biol Chem. 1987;262:15396-15399.
    • (1987) J Biol Chem , vol.262 , pp. 15396-15399
    • Myerowitz, R.1    Hogikyan, N.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.