메뉴 건너뛰기




Volumn 77, Issue 7, 2013, Pages 1799-1806

L-Type calcium channel mutations in Japanese patients with inherited arrhythmias

Author keywords

Arrhythmia; Brugada syndrome; Calcium channel; Genetics; Idiopathic ventricular fibrillation (IVF)

Indexed keywords

ATROPINE; CALCIUM CHANNEL L TYPE; CILOSTAZOL; PILSICAINIDE;

EID: 84879365398     PISSN: 13469843     EISSN: 13474820     Source Type: Journal    
DOI: 10.1253/circj.CJ-12-1457     Document Type: Article
Times cited : (38)

References (35)
  • 1
    • 0026166997 scopus 로고
    • Structure and function of voltage-gated sodium and calcium channels
    • Catterall WA. Structure and function of voltage-gated sodium and calcium channels. Curr Opin Neurobiol 1991; 1: 5-13.
    • (1991) Curr Opin Neurobiol , vol.1 , pp. 5-13
    • Catterall, W.A.1
  • 2
  • 3
    • 29844439240 scopus 로고    scopus 로고
    • International Union of Pharmacology XLVIII: Nomenclature and structure-function relationships of voltage-gated calcium channels
    • Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J. International Union of Pharmacology XLVIII: Nomenclature and structure-function relationships of voltage-gated calcium channels. Pharmacol Rev 2005; 57: 411-425.
    • (2005) Pharmacol Rev , vol.57 , pp. 411-425
    • Catterall, W.A.1    Perez-Reyes, E.2    Snutch, T.P.3    Striessnig, J.4
  • 4
    • 5344223383 scopus 로고    scopus 로고
    • Ca(v)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, et al. Ca(v)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004; 119: 19-31.
    • (2004) Cell , vol.119 , pp. 19-31
    • Splawski, I.1    Timothy, K.W.2    Sharpe, L.M.3    Decher, N.4    Kumar, P.5    Bloise, R.6
  • 5
    • 84863216842 scopus 로고    scopus 로고
    • Brugada syndrome 2012
    • Berne P, Brugada J. Brugada syndrome 2012. Circ J 2012; 76: 1563-1571.
    • (2012) Circ J , vol.76 , pp. 1563-1571
    • Berne, P.1    Brugada, J.2
  • 6
    • 84870540597 scopus 로고    scopus 로고
    • Idiopathic ventricular fibrillation, early repolarization and other J wave-related ventricular fibrillation syndromes: From an electrocardiographic enigma to an electrophysiologic dogma
    • Nam GB. Idiopathic ventricular fibrillation, early repolarization and other J wave-related ventricular fibrillation syndromes: From an electrocardiographic enigma to an electrophysiologic dogma. Circ J 2012; 76: 2723-2731.
    • (2012) Circ J , vol.76 , pp. 2723-2731
    • Nam, G.B.1
  • 7
    • 33846627787 scopus 로고    scopus 로고
    • Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death
    • Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation 2007; 115: 442-449.
    • (2007) Circulation , vol.115 , pp. 442-449
    • Antzelevitch, C.1    Pollevick, G.D.2    Cordeiro, J.M.3    Casis, O.4    Sanguinetti, M.C.5    Aizawa, Y.6
  • 8
    • 78650088297 scopus 로고    scopus 로고
    • Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death
    • Burashnikov E, Pfeiffer R, Barajas-Martinez H, Delpón E, Hu D, Desai M, et al. Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm 2010; 7: 1872-1882.
    • (2010) Heart Rhythm , vol.7 , pp. 1872-1882
    • Burashnikov, E.1    Pfeiffer, R.2    Barajas-Martinez, H.3    Delpón, E.4    Hu, D.5    Desai, M.6
  • 9
    • 79952743217 scopus 로고    scopus 로고
    • Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel
    • Napolitano C, Antzelevitch C. Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel. Circ Res 2011; 108: 607-618.
    • (2011) Circ Res , vol.108 , pp. 607-618
    • Napolitano, C.1    Antzelevitch, C.2
  • 10
    • 84855406346 scopus 로고    scopus 로고
    • Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay
    • Kanter RJ, Pfeiffer R, Hu D, Barajas-Martinez H, Carboni MP, Antzelevitch C. Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. Circulation 2012; 125: 14-22.
    • (2012) Circulation , vol.125 , pp. 14-22
    • Kanter, R.J.1    Pfeiffer, R.2    Hu, D.3    Barajas-Martinez, H.4    Carboni, M.P.5    Antzelevitch, C.6
  • 11
    • 84866739941 scopus 로고    scopus 로고
    • Inherited calcium channelopathies in the pathophysiology of arrhythmias
    • Venetucci L, Denegri M, Napolitano C, Priori SG. Inherited calcium channelopathies in the pathophysiology of arrhythmias. Nat Rev Cardiol 2012; 9: 561-575.
    • (2012) Nat Rev Cardiol , vol.9 , pp. 561-575
    • Venetucci, L.1    Denegri, M.2    Napolitano, C.3    Priori, S.G.4
  • 12
    • 84857130850 scopus 로고    scopus 로고
    • Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization
    • Watanabe H, Nogami A, Ohkubo K, Kawata H, Hayashi Y, Ishikawa T, et al. Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization. Circ Arrhythm Electrophysiol 2011; 4: 874-881.
    • (2011) Circ Arrhythm Electrophysiol , vol.4 , pp. 874-881
    • Watanabe, H.1    Nogami, A.2    Ohkubo, K.3    Kawata, H.4    Hayashi, Y.5    Ishikawa, T.6
  • 13
    • 13444300924 scopus 로고    scopus 로고
    • Brugada syndrome: Report of the Second Consensus Conference: Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association
    • Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, et al. Brugada syndrome: Report of the Second Consensus Conference: Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 2005; 111: 659-670.
    • (2005) Circulation , vol.111 , pp. 659-670
    • Antzelevitch, C.1    Brugada, P.2    Borggrefe, M.3    Brugada, J.4    Brugada, R.5    Corrado, D.6
  • 14
    • 41749114920 scopus 로고    scopus 로고
    • Clinical and molecular genetics of the short QT syndrome
    • Schimpf R, Borggrefe M, Wolpert C. Clinical and molecular genetics of the short QT syndrome. Curr Opin Cardiol 2008; 23: 192-198.
    • (2008) Curr Opin Cardiol , vol.23 , pp. 192-198
    • Schimpf, R.1    Borggrefe, M.2    Wolpert, C.3
  • 15
    • 84655160739 scopus 로고    scopus 로고
    • Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)
    • Templin C, Ghadri JR, Rougier JS, Baumer A, Kaplan V, Albesa M, et al. Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). Eur Heart J 2011; 32: 1077-1088.
    • (2011) Eur Heart J , vol.32 , pp. 1077-1088
    • Templin, C.1    Ghadri, J.R.2    Rougier, J.S.3    Baumer, A.4    Kaplan, V.5    Albesa, M.6
  • 17
    • 80052334693 scopus 로고    scopus 로고
    • KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation
    • Ohno S, Zankov DP, Ding WG, Itoh H, Makiyama T, Doi T, et al. KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation. Circ Arrhythm Electrophysiol 2011; 4: 352-361.
    • (2011) Circ Arrhythm Electrophysiol , vol.4 , pp. 352-361
    • Ohno, S.1    Zankov, D.P.2    Ding, W.G.3    Itoh, H.4    Makiyama, T.5    Doi, T.6
  • 18
    • 84875511989 scopus 로고    scopus 로고
    • Novel SCN3B mutation associated with Brugada syndrome affects intracellular trafficking and function of Nav1.5
    • Ishikawa T, Takahashi N, Ohno S, Sakurada H, Nakamura K, On YK, et al. Novel SCN3B mutation associated with Brugada syndrome affects intracellular trafficking and function of Nav1.5. Circ J 2013; 77: 959-967.
    • (2013) Circ J , vol.77 , pp. 959-967
    • Ishikawa, T.1    Takahashi, N.2    Ohno, S.3    Sakurada, H.4    Nakamura, K.5    On, Y.K.6
  • 19
    • 84862778065 scopus 로고    scopus 로고
    • Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8
    • Barajas-Martínez H, Hu D, Ferrer T, Onetti CG, Wu Y, Burashnikov E, et al. Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8. Heart Rhythm 2012; 9: 548-555.
    • (2012) Heart Rhythm , vol.9 , pp. 548-555
    • Barajas-Martínez, H.1    Hu, D.2    Ferrer, T.3    Onetti, C.G.4    Wu, Y.5    Burashnikov, E.6
  • 21
    • 77957268950 scopus 로고    scopus 로고
    • Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes
    • Medeiros-Domingo A, Tan BH, Crotti L, Tester DJ, Eckhardt L, Cuoretti A, et al. Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart Rhythm 2010; 7: 1466-1471.
    • (2010) Heart Rhythm , vol.7 , pp. 1466-1471
    • Medeiros-Domingo, A.1    Tan, B.H.2    Crotti, L.3    Tester, D.J.4    Eckhardt, L.5    Cuoretti, A.6
  • 22
    • 78650513717 scopus 로고    scopus 로고
    • Development of a high resolution melting method for the detection of genetic variations in long QT syndrome
    • Millat G, Chanavat V, Créhalet H, Rousson R. Development of a high resolution melting method for the detection of genetic variations in long QT syndrome. Clin Chim Acta 2011; 412: 203-207.
    • (2011) Clin Chim Acta , vol.412 , pp. 203-207
    • Millat, G.1    Chanavat, V.2    Créhalet, H.3    Rousson, R.4
  • 23
    • 0028876116 scopus 로고
    • cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uKATP-1, gene (KCNJ8)
    • Inagaki N, Inazawa J, Seino S. cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uKATP-1, gene (KCNJ8). Genomics 1995; 30: 102-104.
    • (1995) Genomics , vol.30 , pp. 102-104
    • Inagaki, N.1    Inazawa, J.2    Seino, S.3
  • 24
    • 0035893688 scopus 로고    scopus 로고
    • The sodium channel beta-subunit SCN3B modulates the kinetics of SCN5A and is expressed heterogeneously in sheep heart
    • Fahmi AI, Patel M, Stevens EB, Fowden AL, John JE, Lee K, et al. The sodium channel beta-subunit SCN3B modulates the kinetics of SCN5A and is expressed heterogeneously in sheep heart. J Physiol 2001; 537: 693-700.
    • (2001) J Physiol , vol.537 , pp. 693-700
    • Fahmi, A.I.1    Patel, M.2    Stevens, E.B.3    Fowden, A.L.4    John, J.E.5    Lee, K.6
  • 25
    • 0033533525 scopus 로고    scopus 로고
    • Splicing mutations in KCNQ1: A mutation hot spot at codon 344 that produces in frame transcripts
    • Murray A, Donger C, Fenske C, Spillman I, Richard P, Dong YB, et al. Splicing mutations in KCNQ1: A mutation hot spot at codon 344 that produces in frame transcripts. Circulation 1999; 100: 1077-1084.
    • (1999) Circulation , vol.100 , pp. 1077-1084
    • Murray, A.1    Donger, C.2    Fenske, C.3    Spillman, I.4    Richard, P.5    Dong, Y.B.6
  • 26
    • 33847397905 scopus 로고    scopus 로고
    • Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene
    • Tsuji K, Akao M, Ishii TM, Ohno S, Makiyama T, Takenaka K, et al. Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene. J Mol Cell Cardiol 2007; 42: 662-669.
    • (2007) J Mol Cell Cardiol , vol.42 , pp. 662-669
    • Tsuji, K.1    Akao, M.2    Ishii, T.M.3    Ohno, S.4    Makiyama, T.5    Takenaka, K.6
  • 27
    • 9144253862 scopus 로고    scopus 로고
    • Phenotypic characterization of a large european family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A
    • Hong K, Berruezo-Sanchez A, Poungvarin N, Oliva A, Vatta M, Brugada J, et al. Phenotypic characterization of a large european family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A. J Cardiovasc Electrophysiol 2004; 15: 64-69.
    • (2004) J Cardiovasc Electrophysiol , vol.15 , pp. 64-69
    • Hong, K.1    Berruezo-Sanchez, A.2    Poungvarin, N.3    Oliva, A.4    Vatta, M.5    Brugada, J.6
  • 28
    • 67650264043 scopus 로고    scopus 로고
    • L-type calcium channel C-terminus autoregulates transcription
    • Schroder E, Byse M, Satin J. L-type calcium channel C-terminus autoregulates transcription. Circ Res 2009; 104: 1373-1381.
    • (2009) Circ Res , vol.104 , pp. 1373-1381
    • Schroder, E.1    Byse, M.2    Satin, J.3
  • 29
    • 0023063653 scopus 로고
    • Molecular properties of voltage-sensitive calcium channels
    • Catterall WA, Curtis BM. Molecular properties of voltage-sensitive calcium channels. Soc Gen Physiol Ser 1987; 41: 201-213.
    • (1987) Soc Gen Physiol Ser , vol.41 , pp. 201-213
    • Catterall, W.A.1    Curtis, B.M.2
  • 30
    • 0026042374 scopus 로고
    • Functional subunit structure of voltage-gated calcium channels
    • Catterall WA. Functional subunit structure of voltage-gated calcium channels. Science 1991; 253: 1499-1500.
    • (1991) Science , vol.253 , pp. 1499-1500
    • Catterall, W.A.1
  • 32
    • 0029026638 scopus 로고
    • Structure and function of voltage-gated ion channels
    • Catterall WA. Structure and function of voltage-gated ion channels. Annu Rev Biochem 1995; 64: 493-531.
    • (1995) Annu Rev Biochem , vol.64 , pp. 493-531
    • Catterall, W.A.1
  • 33
    • 0034682842 scopus 로고    scopus 로고
    • Role of the C-terminus of the alpha 1C (Cav1.2) subunit in membrane targeting of cardiac L-type calcium channels
    • Gao T, Bunemann M, Gerhardstein BL, Ma H, Hosey MM. Role of the C-terminus of the alpha 1C (Cav1.2) subunit in membrane targeting of cardiac L-type calcium channels. J Biol Chem 2000; 275: 25436-25444.
    • (2000) J Biol Chem , vol.275 , pp. 25436-25444
    • Gao, T.1    Bunemann, M.2    Gerhardstein, B.L.3    Ma, H.4    Hosey, M.M.5
  • 34
    • 0042386144 scopus 로고    scopus 로고
    • Characterization of auto-regulation of the human cardiac alpha1 subunit of the L-type calcium channel: Importance of the C-terminus
    • Mikala G, Bodi I, Klockner U, Varadi M, Varadi G, Koch SE, et al. Characterization of auto-regulation of the human cardiac alpha1 subunit of the L-type calcium channel: Importance of the C-terminus. Mol Cell Biochem 2003; 250: 81-89.
    • (2003) Mol Cell Biochem , vol.250 , pp. 81-89
    • Mikala, G.1    Bodi, I.2    Klockner, U.3    Varadi, M.4    Varadi, G.5    Koch, S.E.6
  • 35
    • 0024280869 scopus 로고
    • Structure and function of voltage-sensitive ion channels
    • Catterall WA. Structure and function of voltage-sensitive ion channels. Science 1988; 242: 50-61.
    • (1988) Science , vol.242 , pp. 50-61
    • Catterall, W.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.