메뉴 건너뛰기




Volumn 94, Issue 2, 2004, Pages 140-145

Inherited Arrhythmogenic Diseases: The Complexity Beyond Monogenic Disorders

Author keywords

Arrhythmias; Genetics; Heart; Ion channels; Sudden cardiac death

Indexed keywords

GENE PRODUCT; ION CHANNEL; POTASSIUM CHANNEL KCNQ1;

EID: 1042268063     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.RES.0000115750.12807.7E     Document Type: Review
Times cited : (75)

References (51)
  • 10
    • 34250222178 scopus 로고    scopus 로고
    • Catecholaminergic polymorphic ventricular tachycardia
    • Zipes DP, Jalife J, eds. Philadelphia, Pa: Elsevier. In press
    • Napolitano C, Priori SG. Catecholaminergic polymorphic ventricular tachycardia. In: Zipes DP, Jalife J, eds. Cardiac Electrophysiology: From Cell to Bedside. 4th ed. Philadelphia, Pa: Elsevier, 2004. In press.
    • (2004) Cardiac Electrophysiology: From Cell to Bedside. 4th Ed.
    • Napolitano, C.1    Priori, S.G.2
  • 14
    • 0035153087 scopus 로고    scopus 로고
    • Lamins in disease: Why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?
    • Hutchison CJ, Alvarez-Reyes M, Vaughan OA. Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes? J Cell Sci. 2001;114:9-19.
    • (2001) J Cell Sci , vol.114 , pp. 9-19
    • Hutchison, C.J.1    Alvarez-Reyes, M.2    Vaughan, O.A.3
  • 15
    • 0034536268 scopus 로고    scopus 로고
    • Mutations in the LMNA gene encoding lamin A/C
    • Genschel J, Schmidt HH. Mutations in the LMNA gene encoding lamin A/C. Hum Mutat. 2000;16:451-459.
    • (2000) Hum Mutat , vol.16 , pp. 451-459
    • Genschel, J.1    Schmidt, H.H.2
  • 16
    • 2542423005 scopus 로고    scopus 로고
    • Lamin A/C truncation in dilated cardiomyopathy with conduction disease
    • MacLeod HM, Culley MR, Huber JM, McNally EM. Lamin A/C truncation in dilated cardiomyopathy with conduction disease. BMC Med Genet. 2003;4:4.
    • (2003) BMC Med Genet , vol.4 , pp. 4
    • MacLeod, H.M.1    Culley, M.R.2    Huber, J.M.3    McNally, E.M.4
  • 21
    • 0345946192 scopus 로고    scopus 로고
    • A spontaneous mutation identifies a residue critical for closed-state inactivation of cardiac sodium channels
    • Abstract
    • Grant AO, Carboni MP, Neplioueva V, Starmer CF, Memmi M, Napolitano C, Priori SG. A spontaneous mutation identifies a residue critical for closed-state inactivation of cardiac sodium channels. Circulation. 2001;104(suppl II):11-310. Abstract.
    • (2001) Circulation , vol.104 , Issue.SUPPL. II , pp. 11-310
    • Grant, A.O.1    Carboni, M.P.2    Neplioueva, V.3    Starmer, C.F.4    Memmi, M.5    Napolitano, C.6    Priori, S.G.7
  • 23
  • 26
    • 0029988521 scopus 로고    scopus 로고
    • Autonomic and antiarrhythmic drug modulation of ST segment elevation in patients with Brugada syndrome
    • Miyazaki T, Mitamura H, Miyoshi S, Soejima K, Aizawa Y, Ogawa S. Autonomic and antiarrhythmic drug modulation of ST segment elevation in patients with Brugada syndrome. J Am Coll Cardiol. 1996;27: 1061-1070.
    • (1996) J Am Coll Cardiol , vol.27 , pp. 1061-1070
    • Miyazaki, T.1    Mitamura, H.2    Miyoshi, S.3    Soejima, K.4    Aizawa, Y.5    Ogawa, S.6
  • 27
    • 0036142212 scopus 로고    scopus 로고
    • Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and ST-segment elevation in precordial leads V1 to V3
    • Brugada J, Brugada R, Antzelevitch C, Towbin JA, Nademanee K, Brugada P. Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and ST-segment elevation in precordial leads V1 to V3. Circulation. 2002;105:73-78.
    • (2002) Circulation , vol.105 , pp. 73-78
    • Brugada, J.1    Brugada, R.2    Antzelevitch, C.3    Towbin, J.A.4    Nademanee, K.5    Brugada, P.6
  • 29
    • 0037127028 scopus 로고    scopus 로고
    • Requirement of a macromolecular signaling complex for β adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel
    • Marx SO, Kurokawa J, Reiken S, Motoike H, D'Armiento J, Marks AR, Kass RS. Requirement of a macromolecular signaling complex for β adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. Science. 2002;295:496-499.
    • (2002) Science , vol.295 , pp. 496-499
    • Marx, S.O.1    Kurokawa, J.2    Reiken, S.3    Motoike, H.4    D'Armiento, J.5    Marks, A.R.6    Kass, R.S.7
  • 30
    • 0037059852 scopus 로고    scopus 로고
    • Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome
    • Baroudi G, Acharfi S, Larouche C, Chahine M. Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. Circ Res. 2002;90:e11-e16.
    • (2002) Circ Res , vol.90
    • Baroudi, G.1    Acharfi, S.2    Larouche, C.3    Chahine, M.4
  • 31
    • 0037314358 scopus 로고    scopus 로고
    • A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation
    • Viswanathan PC, Benson DW, Balser JR. A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest. 2003;111:341-346.
    • (2003) J Clin Invest , vol.111 , pp. 341-346
    • Viswanathan, P.C.1    Benson, D.W.2    Balser, J.R.3
  • 32
    • 0037421629 scopus 로고    scopus 로고
    • A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation
    • Ye B, Valdivia CR, Ackerman MJ, Makielski JC. A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. Physiol Genomics. 2003;12:187-193.
    • (2003) Physiol Genomics , vol.12 , pp. 187-193
    • Ye, B.1    Valdivia, C.R.2    Ackerman, M.J.3    Makielski, J.C.4
  • 36
    • 0037539913 scopus 로고    scopus 로고
    • Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families
    • Veldkamp MW, Wilders R, Baartscheer A, Zegers JG, Bezzina CR, Wilde AA. Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families. Circ Res. 2003;92:976-983.
    • (2003) Circ Res , vol.92 , pp. 976-983
    • Veldkamp, M.W.1    Wilders, R.2    Baartscheer, A.3    Zegers, J.G.4    Bezzina, C.R.5    Wilde, A.A.6
  • 37
    • 0037066036 scopus 로고    scopus 로고
    • + channel mutation that causes both Brugada and long-QT syndrome phenotypes: A simulation study of mechanism
    • + channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism. Circulation. 2002;105:1208-1213.
    • (2002) Circulation , vol.105 , pp. 1208-1213
    • Clancy, C.E.1    Rudy, Y.2
  • 38
    • 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
  • 40
    • 0037125396 scopus 로고    scopus 로고
    • Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: Early diagnosis of asymptomatic carriers
    • Bauce B, Rampazzo A, Basso C, Bagattin A, Daliento L, Tiso N, Turrini P, Thiene G, Danieli GA, Nava A. Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. J Am Coll Cardiol. 2002;40:341-349.
    • (2002) J Am Coll Cardiol , vol.40 , pp. 341-349
    • Bauce, B.1    Rampazzo, A.2    Basso, C.3    Bagattin, A.4    Daliento, L.5    Tiso, N.6    Turrini, P.7    Thiene, G.8    Danieli, G.A.9    Nava, A.10
  • 41
    • 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
  • 43
    • 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
  • 44
    • 0036083683 scopus 로고    scopus 로고
    • The multifaceted phenotype of the knockout mouse for the KCNE1 potassium channel gene
    • Warth R, Barhanin J. The multifaceted phenotype of the knockout mouse for the KCNE1 potassium channel gene. Am J Physiol Regul Integr Comp Physiol. 2002;282:R639-R648.
    • (2002) Am J Physiol Regul Integr Comp Physiol , vol.282
    • Warth, R.1    Barhanin, J.2
  • 49
    • 0142250913 scopus 로고    scopus 로고
    • Transgenic rabbits as therapeutic protein bioreactors and human disease models
    • Fan J, Watanabe T. Transgenic rabbits as therapeutic protein bioreactors and human disease models. Pharmacol Ther. 2003;99:261-282.
    • (2003) Pharmacol Ther , vol.99 , pp. 261-282
    • Fan, J.1    Watanabe, T.2
  • 50
    • 0034536071 scopus 로고    scopus 로고
    • From catheters to vectors: The dawn of molecular electrophysiology
    • Priori SG, Napolitano C. From catheters to vectors: the dawn of molecular electrophysiology. Nat Med. 2000;6:1316-1318.
    • (2000) Nat Med , vol.6 , pp. 1316-1318
    • Priori, S.G.1    Napolitano, C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.