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Volumn 115, Issue 8, 2005, Pages 2018-2024

Long QT syndrome: From channels to cardiac arrhythmias

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL; SODIUM CHANNEL;

EID: 23644452804     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI25537     Document Type: Review
Times cited : (246)

References (65)
  • 1
    • 0025935591 scopus 로고
    • The long QT syndrome: Prospective longitudinal study of 328 families
    • Moss, A.J., et al. 1991. The long QT syndrome: prospective longitudinal study of 328 families. Circulation. 84:1136-1144.
    • (1991) Circulation , vol.84 , pp. 1136-1144
    • Moss, A.J.1
  • 2
    • 0031283352 scopus 로고    scopus 로고
    • Molecular physiology of cardiac delayed rectifier K+ channels
    • Sanguinetti, M.C., and Zou, A. 1997. Molecular physiology of cardiac delayed rectifier K+ channels [review]. Heart Vessels. 12(Suppl.):170-172.
    • (1997) Heart Vessels , vol.12 , Issue.SUPPL. , pp. 170-172
    • Sanguinetti, M.C.1    Zou, A.2
  • 3
    • 0029097799 scopus 로고
    • Molecular mechanism for an inherited cardiac arrhythmia
    • Bennett, P.B., Yazawa, K., Makita, N., and George, A.L. 1995. Molecular mechanism for an inherited cardiac arrhythmia. Nature. 376:683-685.
    • (1995) Nature , vol.376 , pp. 683-685
    • Bennett, P.B.1    Yazawa, K.2    Makita, N.3    George, A.L.4
  • 4
    • 49749174698 scopus 로고
    • Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death
    • Jervell, A., and Lange-Nielsen, F. 1957. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am. Heart J. 54:59-68.
    • (1957) Am. Heart J. , vol.54 , pp. 59-68
    • Jervell, A.1    Lange-Nielsen, F.2
  • 6
    • 0034609531 scopus 로고    scopus 로고
    • Spectrum of mutations in long-QT syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
    • Splawski, I., et al. 2000. Spectrum of mutations in long-QT syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 102:1178-1185.
    • (2000) Circulation , vol.102 , pp. 1178-1185
    • Splawski, I.1
  • 7
    • 0037851905 scopus 로고    scopus 로고
    • Long QT syndrome
    • Moss, A.J. 2003. Long QT syndrome. JAMA. 289:2041-2044.
    • (2003) JAMA , vol.289 , pp. 2041-2044
    • Moss, A.J.1
  • 9
    • 0032189139 scopus 로고    scopus 로고
    • Influence of genotype on the clinical course of the long-QT syndrome
    • International Long-QT Syndrome Registry Research Group
    • Zareba, W., et al. 1998. Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. N. Engl. J. Med. 339:960-965.
    • (1998) N. Engl. J. Med. , vol.339 , pp. 960-965
    • Zareba, W.1
  • 10
    • 0035830365 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias
    • Schwartz, P.J., et al. 2001. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 103:89-95.
    • (2001) Circulation , vol.103 , pp. 89-95
    • Schwartz, P.J.1
  • 11
    • 0036237833 scopus 로고    scopus 로고
    • Epinephrine-induced QT interval prolongation: A gene-specific paradoxical response in congenital long QT syndrome
    • Ackerman, M.J., et al. 2002. Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome. Mayo Clin. Proc. 77:413-421.
    • (2002) Mayo Clin. Proc. , vol.77 , pp. 413-421
    • Ackerman, M.J.1
  • 12
    • 0037448805 scopus 로고    scopus 로고
    • Exercise stress test amplifies genotype-phenotype correlation in the LQT1 and LQT2 forms of the long-QT syndrome
    • Takenaka, K., et al. 2003. Exercise stress test amplifies genotype-phenotype correlation in the LQT1 and LQT2 forms of the long-QT syndrome. Circulation. 107:838-844.
    • (2003) Circulation , vol.107 , pp. 838-844
    • Takenaka, K.1
  • 13
    • 0034768334 scopus 로고    scopus 로고
    • Response of the QT interval to mental and physical stress in types LQT1 and LQT2 of the long QT syndrome
    • Paavonen, K.J., et al. 2001. Response of the QT interval to mental and physical stress in types LQT1 and LQT2 of the long QT syndrome. Heart. 86:39-44.
    • (2001) Heart , vol.86 , pp. 39-44
    • Paavonen, K.J.1
  • 14
    • 17044446589 scopus 로고    scopus 로고
    • Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome
    • Moss, A.J., et al. 2000. Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation. 101:616-623.
    • (2000) Circulation , vol.101 , pp. 616-623
    • Moss, A.J.1
  • 15
    • 4544387969 scopus 로고    scopus 로고
    • Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers
    • Priori, S.G., et al. 2004. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA 292:1341-1344.
    • (2004) JAMA , vol.292 , pp. 1341-1344
    • Priori, S.G.1
  • 16
    • 0028908741 scopus 로고
    • Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3P21
    • George, A.L., et al. 1995. Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3P21. Cytogenet. Cell Genet. 68:67-70.
    • (1995) Cytogenet. Cell Genet. , vol.68 , pp. 67-70
    • George, A.L.1
  • 17
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    • Wang, Q., et al. 1995. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 80:805-811.
    • (1995) Cell , vol.80 , pp. 805-811
    • Wang, Q.1
  • 18
    • 0029116230 scopus 로고
    • Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia
    • Wang, Q., et al. 1995. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum. Mol. Genet. 4:1603-1607.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1603-1607
    • Wang, Q.1
  • 19
    • 0034702931 scopus 로고    scopus 로고
    • Molecular pharmacology of the sodium channel mutation D1790G linked to the long-QT syndrome
    • Abrief H., Wehrens, X.H., Benhorin, J., Kerem, B., and Kass, R.S. 2000. Molecular pharmacology of the sodium channel mutation D1790G linked to the long-QT syndrome. Circulation. 102:921-925.
    • (2000) Circulation , vol.102 , pp. 921-925
    • Abrief, H.1    Wehrens, X.H.2    Benhorin, J.3    Kerem, B.4    Kass, R.S.5
  • 20
    • 0034640093 scopus 로고    scopus 로고
    • Two distinct congenital arrhythmias evoked by a multidysfunctional Na(+) channel
    • Veldkamp, M.W., et al. 2000. Two distinct congenital arrhythmias evoked by a multidysfunctional Na(+) channel. Circ. Res. 86:E91-E97.
    • (2000) Circ. Res. , vol.86
    • Veldkamp, M.W.1
  • 21
    • 0028874658 scopus 로고
    • Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to NA+ channel blockade and to increases in heart rate: Implications for gene-specific therapy
    • Schwartz, P.J., et al. 1995. Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to NA+ channel blockade and to increases in heart rate: implications for gene-specific therapy. Circulation. 92:3381-3386.
    • (1995) Circulation , vol.92 , pp. 3381-3386
    • Schwartz, P.J.1
  • 22
    • 0030791119 scopus 로고    scopus 로고
    • Gene-specific therapy for long QT syndrome: QT shortening with lidocaine and tocainide in patients with mutation of the sodium channel gene
    • Rosero, S.Z., Zareba, W., Robinson, J.L., and Moss, A. 1997. Gene-specific therapy for long QT syndrome: QT shortening with lidocaine and tocainide in patients with mutation of the sodium channel gene. Ann. Noninvasive Electrocardiol. 2:274-278.
    • (1997) Ann. Noninvasive Electrocardiol. , vol.2 , pp. 274-278
    • Rosero, S.Z.1    Zareba, W.2    Robinson, J.L.3    Moss, A.4
  • 23
    • 0035022511 scopus 로고    scopus 로고
    • Normalization of ventricular repolarization with flecainide m long QT syndrome patients with SCN5A:DeltaKPQ mutation
    • Windle, J.R., Geletka, R.C., Moss, A.J., Zareba, W., and Atkins, D.L. 2001. Normalization of ventricular repolarization with flecainide m long QT syndrome patients with SCN5A:DeltaKPQ mutation. Ann. Noninvasive Electrocardiol. 6:153-158.
    • (2001) Ann. Noninvasive Electrocardiol. , vol.6 , pp. 153-158
    • Windle, J.R.1    Geletka, R.C.2    Moss, A.J.3    Zareba, W.4    Atkins, D.L.5
  • 24
    • 0034636115 scopus 로고    scopus 로고
    • Effects of flecainide in patients with new SCN5A mutation: Mutation-specific therapy for long-QT syndrome?
    • Benhorin, J., et al. 2000. Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome? Circulation. 101:1698-1706.
    • (2000) Circulation , vol.101 , pp. 1698-1706
    • Benhorin, J.1
  • 25
    • 0033982867 scopus 로고    scopus 로고
    • Preferential block of late sodium current in the LQT3 DeltaKPQ mutant by the class I(C) antiarrhythmic flecainide
    • Nagatomo, T., January, C.T., and Makielski, J.C. 2000. Preferential block of late sodium current in the LQT3 DeltaKPQ mutant by the class I(C) antiarrhythmic flecainide. Mol. Pharmacol. 57:101-107.
    • (2000) Mol. Pharmacol. , vol.57 , pp. 101-107
    • Nagatomo, T.1    January, C.T.2    Makielski, J.C.3
  • 26
    • 0034546344 scopus 로고    scopus 로고
    • Long QT syndrome: Cellular basis and arrhythmia mechanism in LQT2
    • January, C.T., Gong, Q., and Zhou, Z. 2000. Long QT syndrome: cellular basis and arrhythmia mechanism in LQT2. J. Cardiovasc. Electrophysiol. 11:1413-1418.
    • (2000) J. Cardiovasc. Electrophysiol. , vol.11 , pp. 1413-1418
    • January, C.T.1    Gong, Q.2    Zhou, Z.3
  • 28
    • 0037133307 scopus 로고    scopus 로고
    • Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel
    • Moss, A.J., et al. 2002. Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 105:794-799.
    • (2002) Circulation , vol.105 , pp. 794-799
    • Moss, A.J.1
  • 29
    • 10744231816 scopus 로고    scopus 로고
    • Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome
    • Zareba, W., et al. 2003. Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J. Cardiovasc. Electrophysiol. 14:1149-1153.
    • (2003) J. Cardiovasc. Electrophysiol. , vol.14 , pp. 1149-1153
    • Zareba, W.1
  • 30
    • 3242752714 scopus 로고    scopus 로고
    • Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: Multicenter study in Japan
    • Shimizu, W., et al. 2004. Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. J. Am. Coll. Cardiol. 44:117-125.
    • (2004) J. Am. Coll. Cardiol. , vol.44 , pp. 117-125
    • Shimizu, W.1
  • 31
    • 0014266238 scopus 로고
    • The kinetics and rectifier properties of the slow potassium current in cardiac Purkinje fibres
    • Noble, D., and Tsien, R. 1968. The kinetics and rectifier properties of the slow potassium current in cardiac Purkinje fibres. J. Physiol. 195:185-214.
    • (1968) J. Physiol. , vol.195 , pp. 185-214
    • Noble, D.1    Tsien, R.2
  • 32
    • 0014438985 scopus 로고
    • Outward membrane currents activated in the plateau range of potentials in cardiac Purkinje fibres
    • Noble, D., and Tsien, R.W. 1969. Outward membrane currents activated in the plateau range of potentials in cardiac Purkinje fibres. J. Physiol. 200:205-231.
    • (1969) J. Physiol. , vol.200 , pp. 205-231
    • Noble, D.1    Tsien, R.W.2
  • 33
    • 0025351245 scopus 로고
    • Two components of cardiac delayed rectifier K+ current. Differential sensitivity to block by class III antiarrhythmic agents
    • Sanguinetti, M.C., and Jurkiewicz, N.K. 1990. Two components of cardiac delayed rectifier K+ current. Differential sensitivity to block by class III antiarrhythmic agents. J. Gen. Physiol. 96:195-215.
    • (1990) J. Gen. Physiol. , vol.96 , pp. 195-215
    • Sanguinetti, M.C.1    Jurkiewicz, N.K.2
  • 34
    • 0020003884 scopus 로고
    • The ionic basis of concent ration-related effects of noradrenaline on the action potential of calf cardiac purkinje fibres
    • Kass, R.S., and Wiegers, S.E. 1982. The ionic basis of concent ration-related effects of noradrenaline on the action potential of calf cardiac purkinje fibres. J. Physiol. 322:541-558.
    • (1982) J. Physiol. , vol.322 , pp. 541-558
    • Kass, R.S.1    Wiegers, S.E.2
  • 35
    • 0029002969 scopus 로고
    • A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel
    • Sanguinetti, M.C., Jiang, C., Curran, M.E., and Keating, M.T. 1995. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell. 81:299-307.
    • (1995) Cell , vol.81 , pp. 299-307
    • Sanguinetti, M.C.1    Jiang, C.2    Curran, M.E.3    Keating, M.T.4
  • 37
    • 9044240040 scopus 로고    scopus 로고
    • Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
    • Wang, Q., et al. 1996. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat. Genet. 12:17-23.
    • (1996) Nat. Genet. , vol.12 , pp. 17-23
    • Wang, Q.1
  • 38
    • 0029854263 scopus 로고    scopus 로고
    • Coassembly of KvLQT1 and minK(ISK) proteins to form cardiac IKS potassium channel
    • Sanguinetti, M.C., et al. 1996. Coassembly of KvLQT1 and minK(ISK) proteins to form cardiac IKS potassium channel. Nature. 384:80-83.
    • (1996) Nature , vol.384 , pp. 80-83
    • Sanguinetti, M.C.1
  • 39
    • 0029952101 scopus 로고    scopus 로고
    • K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current
    • Barhanin, J., et al. 1996. K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature. 384:78-80.
    • (1996) Nature , vol.384 , pp. 78-80
    • Barhanin, J.1
  • 41
    • 0037127028 scopus 로고    scopus 로고
    • Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel
    • Marx, S.O., et al. 2002. Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. Science. 295:496-499.
    • (2002) Science , vol.295 , pp. 496-499
    • Marx, S.O.1
  • 42
    • 0037452722 scopus 로고    scopus 로고
    • Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel
    • Kurokawa, J., Chen, L., and Kass, R.S. 2003. Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. Proc. Natl. Acad. Sci. U. S. A. 100:2122-2127.
    • (2003) Proc. Natl. Acad. Sci. U. S. A. , vol.100 , pp. 2122-2127
    • Kurokawa, J.1    Chen, L.2    Kass, R.S.3
  • 43
    • 85047689493 scopus 로고    scopus 로고
    • Long QT syndrome: Novel insights into the mechanisms of cardiac arrhythmias
    • doi:10.1172/JCI200319844
    • Kass, R.S., and Moss, A.J. 2003. Long QT syndrome: novel insights into the mechanisms of cardiac arrhythmias. J. Clin. Invest. 112:810-815. doi:10.1172/JCI200319844.
    • (2003) J. Clin. Invest. , vol.112 , pp. 810-815
    • Kass, R.S.1    Moss, A.J.2
  • 44
    • 0032903775 scopus 로고    scopus 로고
    • Novel mechanism associated with an inherited cardiac arrhythmia: Defective protein trafficking by the mutant HERG (G601S) potassium channel
    • Furutani, M., et al. 1999. Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel. Circulation. 99:2290-2294.
    • (1999) Circulation , vol.99 , pp. 2290-2294
    • Furutani, M.1
  • 45
    • 0033615646 scopus 로고    scopus 로고
    • Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects
    • Zhou, Z., Gong, Q., and January, C.T. 1999. Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects. J. Biol. Chem. 274:31123-31126.
    • (1999) J. Biol. Chem. , vol.274 , pp. 31123-31126
    • Zhou, Z.1    Gong, Q.2    January, C.T.3
  • 46
    • 0037085464 scopus 로고    scopus 로고
    • The binding site for channel blockers chac rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations
    • Picker, E., Obejero-Paz, C.A., Zhao, S., and Brown, A.M. 2002. The binding site for channel blockers chac rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations. J. Biol. Chem. 277:4989-4998.
    • (2002) J. Biol. Chem. , vol.277 , pp. 4989-4998
    • Picker, E.1    Obejero-Paz, C.A.2    Zhao, S.3    Brown, A.M.4
  • 47
    • 2242423606 scopus 로고    scopus 로고
    • A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency
    • Paulussen, A., et al. 2002. A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. J. Biol. Chem. 277:48610-48616.
    • (2002) J. Biol. Chem. , vol.277 , pp. 48610-48616
    • Paulussen, A.1
  • 48
    • 0037129911 scopus 로고    scopus 로고
    • Pharmacological rescue of human K(+) channel long-QT2 mutations: Human ether-a-go-go-related gene rescue without block
    • Rajamani, S., Anderson, C.L., Anson, B.D., and January, C.T. 2002. Pharmacological rescue of human K(+) channel long-QT2 mutations: human ether-a-go-go-related gene rescue without block. Circulation. 105:2830-2835.
    • (2002) Circulation , vol.105 , pp. 2830-2835
    • Rajamani, S.1    Anderson, C.L.2    Anson, B.D.3    January, C.T.4
  • 49
    • 3242717751 scopus 로고    scopus 로고
    • Pharmacological rescue of trafficking defective HERG channels formed by coassembly of wild-type and long QT mutant N470D subunits
    • Gong, Q., Anderson, C.L., January, C.T., and Zhou, Z. 2004. Pharmacological rescue of trafficking defective HERG channels formed by coassembly of wild-type and long QT mutant N470D subunits. Am. J. Physiol. Heart Circ. Physiol. 287:H652-H658.
    • (2004) Am. J. Physiol. Heart Circ. Physiol. , vol.287
    • Gong, Q.1    Anderson, C.L.2    January, C.T.3    Zhou, Z.4
  • 50
    • 0024368695 scopus 로고
    • Structural parts involved in activation and inactivation of the sodium channel
    • Stuhmer, W., et al. 1989. Structural parts involved in activation and inactivation of the sodium channel. Nature. 339:597-603.
    • (1989) Nature , vol.339 , pp. 597-603
    • Stuhmer, W.1
  • 51
    • 0029026638 scopus 로고
    • Structure and function of voltage-gated ion channels
    • Catterall, W.A. 1995. Structure and function of voltage-gated ion channels [review]. Annu. Rev. Biochem. 64:493-531.
    • (1995) Annu. Rev. Biochem. , vol.64 , pp. 493-531
    • Catterall, W.A.1
  • 52
    • 0001376159 scopus 로고
    • The electrical constants of Purkinje fibres
    • Weidmann, S. 1952. The electrical constants of Purkinje fibres. J. Physiol. 118:348-360.
    • (1952) J. Physiol. , vol.118 , pp. 348-360
    • Weidmann, S.1
  • 53
    • 0842326191 scopus 로고    scopus 로고
    • The Na+ channel inactivation gate is a molecular complex: A novel role of the COOH-terminal domain
    • Motoike, H.K., et al. 2004. The Na+ channel inactivation gate is a molecular complex: a novel role of the COOH-terminal domain. J. Gen. Physiol. 123:155-165.
    • (2004) J. Gen. Physiol. , vol.123 , pp. 155-165
    • Motoike, H.K.1
  • 54
    • 7244254394 scopus 로고    scopus 로고
    • Calmodulin mediates Ca2+ sensitivity of sodium channels
    • Kim, J., et al. 2004. Calmodulin mediates Ca2+ sensitivity of sodium channels. J. Biol. Chem. 279:45004-45012.
    • (2004) J. Biol. Chem. , vol.279 , pp. 45004-45012
    • Kim, J.1
  • 55
    • 2442682788 scopus 로고    scopus 로고
    • Andersen-Tawil syndrome: A model of clinical variability, pleiotropy, and genetic heterogeneity
    • Donaldson, M.R., Yoon, G., Fu, Y.H., and Ptacek, L.J. 2004. Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann. Med. 36(Suppl. 1):92-97.
    • (2004) Ann. Med. , vol.36 , Issue.SUPPL. 1 , pp. 92-97
    • Donaldson, M.R.1    Yoon, G.2    Fu, Y.H.3    Ptacek, L.J.4
  • 56
    • 0036724842 scopus 로고    scopus 로고
    • KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes
    • Andelfinger, G., et al. 2002. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am. J. Hum. Genet. 71:663-668.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 663-668
    • Andelfinger, G.1
  • 57
    • 0036324229 scopus 로고    scopus 로고
    • Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
    • doi:10.1172/JCI200215183
    • Tristani-Firouzi, M., et al. 2002. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J. Clin. Invest. 110:381-388. doi:10.1172/JCI200215183.
    • (2002) J. Clin. Invest. , vol.110 , pp. 381-388
    • Tristani-Firouzi, M.1
  • 58
    • 0347064347 scopus 로고    scopus 로고
    • Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome
    • Bendahhou, S., et al. 2003. Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J. Biol. Chem. 278:51779-51785.
    • (2003) J. Biol. Chem. , vol.278 , pp. 51779-51785
    • Bendahhou, S.1
  • 59
    • 5344223383 scopus 로고    scopus 로고
    • Ca(V) 1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • Splawski, I., et al. 2004. Ca(V) 1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 119:19-31.
    • (2004) Cell , vol.119 , pp. 19-31
    • Splawski, I.1
  • 60
    • 0021677187 scopus 로고
    • Calcium channel in activation in the cardiac Purkinje fiber. Evidence for voltage- and calcium-mediated mechanisms
    • Kass, R.S., and Sanguinetti, M.C. 1984. Calcium channel in activation in the cardiac Purkinje fiber. Evidence for voltage- and calcium-mediated mechanisms. J. Gen. Physiol. 84:705-726.
    • (1984) J. Gen. Physiol. , vol.84 , pp. 705-726
    • Kass, R.S.1    Sanguinetti, M.C.2
  • 61
    • 0028819671 scopus 로고
    • Mapping of a gene for long QT syndrome to chromosome 4q25-27
    • Schote, J.J., et al. 1995. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am. J. Hum. Genet. 57:1114-1122.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 1114-1122
    • Schote, J.J.1
  • 62
    • 0034599086 scopus 로고    scopus 로고
    • Abnormal cardiac Na(+) channel properties and QT heart rate adaptation in neonatal ankyrin(B) knockout mice
    • Chauhan, V.S., Tuvia, S., Buhusi, M., Bennett, V., and Grant, A.O. 2000. Abnormal cardiac Na(+) channel properties and QT heart rate adaptation in neonatal ankyrin(B) knockout mice. Circ. Res. 86:441-447.
    • (2000) Circ. Res. , vol.86 , pp. 441-447
    • Chauhan, V.S.1    Tuvia, S.2    Buhusi, M.3    Bennett, V.4    Grant, A.O.5
  • 63
    • 2342597764 scopus 로고    scopus 로고
    • LQT4 gene: The "missing" ankytin
    • Yong, S., Tian, X., and Wang, Q. 2003. LQT4 gene: the "missing" ankytin. Mol. Interv. 3:131-136.
    • (2003) Mol. Interv. , vol.3 , pp. 131-136
    • Yong, S.1    Tian, X.2    Wang, Q.3
  • 64
    • 0242464931 scopus 로고    scopus 로고
    • Ankytin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
    • Mohler, P.J., et al. 2003. Ankytin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature. 421:634-639.
    • (2003) Nature , vol.421 , pp. 634-639
    • Mohler, P.J.1
  • 65
    • 2942695712 scopus 로고    scopus 로고
    • A cardiac arrhythmia syndrome caused by loss of ankyrin-B function
    • Mohler, P.J., et al. 2004. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc. Natl. Acad. Sci. U. S. A. 101:9137-9142.
    • (2004) Proc. Natl. Acad. Sci. U. S. A. , vol.101 , pp. 9137-9142
    • Mohler, P.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.