-
1
-
-
3042549234
-
Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia
-
Ueda, K., Nakamura, K., Hayashi, T., Inagaki, N., Takahashi, M., Arimura, T. et al. Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. J. Biol. Chem. 279, 27194-27198 (2004).
-
(2004)
J. Biol. Chem
, vol.279
, pp. 27194-27198
-
-
Ueda, K.1
Nakamura, K.2
Hayashi, T.3
Inagaki, N.4
Takahashi, M.5
Arimura, T.6
-
2
-
-
0037637420
-
Pacemaker channel dysfunction in a patient with sinus node disease
-
Schulze-Bahr, E., Neu, A., Friederich, P., Kaupp, UB., Breithardt, G., Pongs, O. et al. Pacemaker channel dysfunction in a patient with sinus node disease. J. Clin. Invest. 111, 1537-1545 (2003).
-
(2003)
J. Clin. Invest
, vol.111
, pp. 1537-1545
-
-
Schulze-Bahr, E.1
Neu, A.2
Friederich, P.3
Kaupp, U.B.4
Breithardt, G.5
Pongs, O.6
-
3
-
-
9044240040
-
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
-
Wang, Q., Curran, M. E., Splawski, I., Burn, T. C., Millholland, J. M., VanRaay, T. J. et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat. Genet. 12, 17-23 (1996).
-
(1996)
Nat. Genet
, vol.12
, pp. 17-23
-
-
Wang, Q.1
Curran, M.E.2
Splawski, I.3
Burn, T.C.4
Millholland, J.M.5
VanRaay, T.J.6
-
4
-
-
0028914969
-
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
-
Curran, M. E., Splawski, I., Timothy, K. W., Vincent, G. M., Green, E. D. & Keating, M. T. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80, 795-803 (1995).
-
(1995)
Cell
, vol.80
, pp. 795-803
-
-
Curran, M.E.1
Splawski, I.2
Timothy, K.W.3
Vincent, G.M.4
Green, E.D.5
Keating, M.T.6
-
5
-
-
0028905566
-
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
-
Wang, Q., Shen, J., Splawski, I., Atkinson, D., Li, Z., Robinson, J. L. et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80, 805-811 (1995).
-
(1995)
Cell
, vol.80
, pp. 805-811
-
-
Wang, Q.1
Shen, J.2
Splawski, I.3
Atkinson, D.4
Li, Z.5
Robinson, J.L.6
-
6
-
-
0030723260
-
Mutations in the hminK gene cause long QT syndrome and suppress IKs function
-
Splawski, I., Tristani-Firouzi, M., Lehmann, M. H., Sanguinetti, M. C. & Keating, M. T. Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat. Genet. 17, 338-340 (1996).
-
(1996)
Nat. Genet
, vol.17
, pp. 338-340
-
-
Splawski, I.1
Tristani-Firouzi, M.2
Lehmann, M.H.3
Sanguinetti, M.C.4
Keating, M.T.5
-
7
-
-
0033574273
-
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia
-
Abbott, G. W., Sesti, F., Splawski, I., Buck, M. E., Lehmann, M. H., Timothy, K. W. et al. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 97, 175-187 (1997).
-
(1997)
Cell
, vol.97
, pp. 175-187
-
-
Abbott, G.W.1
Sesti, F.2
Splawski, I.3
Buck, M.E.4
Lehmann, M.H.5
Timothy, K.W.6
-
8
-
-
0036324229
-
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
-
Tristani-Firouzi, M., Jensen, J. L., Donaldson, M. R., Sansone, V., Meola, G., Hahn, A. et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J. Clin. Invest. 110, 381-388 (2002).
-
(2002)
J. Clin. Invest
, vol.110
, pp. 381-388
-
-
Tristani-Firouzi, M.1
Jensen, J.L.2
Donaldson, M.R.3
Sansone, V.4
Meola, G.5
Hahn, A.6
-
9
-
-
5344223383
-
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
-
Splawski, I., Timothy, K. W., Sharpe, L. M., Decher, N., Kumar, P., Bloise, R. et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119, 19-31 (2004).
-
(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
-
10
-
-
0346727397
-
Sudden death associated with short-QT syndrome linked to mutations in HERG
-
Brugada, R., Hong, K., Dumaine, R., Cordeiro, J., Gaita, F., Borggrefe, M. et al. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation 109, 30-35 (2004).
-
(2004)
Circulation
, vol.109
, pp. 30-35
-
-
Brugada, R.1
Hong, K.2
Dumaine, R.3
Cordeiro, J.4
Gaita, F.5
Borggrefe, M.6
-
11
-
-
2542491002
-
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome
-
Bellocq, C., van Ginneken, A. C., Bezzina, C. R., Alders, M., Escande, D., Mannens, M. M. et al. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 109, 2394-2397 (2004).
-
(2004)
Circulation
, vol.109
, pp. 2394-2397
-
-
Bellocq, C.1
van Ginneken, A.C.2
Bezzina, C.R.3
Alders, M.4
Escande, D.5
Mannens, M.M.6
-
12
-
-
0037428218
-
KCNQ1 gain-of-function mutation in familial atrial fibrillation
-
Chen, Y. H., Xu, S. J., Bendahhou, S., Wang, X. L., Wang, Y., Xu, W. Y. et al. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 299, 251-254 (2003).
-
(2003)
Science
, vol.299
, pp. 251-254
-
-
Chen, Y.H.1
Xu, S.J.2
Bendahhou, S.3
Wang, X.L.4
Wang, Y.5
Xu, W.Y.6
-
13
-
-
6344292572
-
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation
-
Yang, Y., Xia, M., Jin, Q., Bendahhou, S., Shi, J., Chen, Y. et al. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am. J. Hum. Genet. 75, 899-905 (2004).
-
(2004)
Am. J. Hum. Genet
, vol.75
, pp. 899-905
-
-
Yang, Y.1
Xia, M.2
Jin, Q.3
Bendahhou, S.4
Shi, J.5
Chen, Y.6
-
14
-
-
0032546384
-
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
-
Chen, Q., Kirsch, G. E., Zhang, D., Brugada, R., Brugada, J., Brugada, P. et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 392, 293-296 (1998).
-
(1998)
Nature
, vol.392
, pp. 293-296
-
-
Chen, Q.1
Kirsch, G.E.2
Zhang, D.3
Brugada, R.4
Brugada, J.5
Brugada, P.6
-
15
-
-
0003096674
-
Cardiac conduction defects associate with mutations in SCN5A
-
Schott, J. J., Alshinawi, C., Kyndt, F., Probst, V., Hoorntje, T. M., Hulsbeek, M. et al. Cardiac conduction defects associate with mutations in SCN5A. Nat. Genet. 23, 20-21 (1999).
-
(1999)
Nat. Genet
, vol.23
, pp. 20-21
-
-
Schott, J.J.1
Alshinawi, C.2
Kyndt, F.3
Probst, V.4
Hoorntje, T.M.5
Hulsbeek, M.6
-
16
-
-
0035895322
-
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
-
Priori, S. G., Napolitano, C., Tiso, N., Memmi, M., Vignati, G., Bloise, R. et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 103, 196-200 (2001).
-
(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
-
17
-
-
0037049999
-
Cardiac channelopathies
-
Marban, E. Cardiac channelopathies. Nature 415, 213-218 (2002).
-
(2002)
Nature
, vol.415
, pp. 213-218
-
-
Marban, E.1
-
18
-
-
0034818628
-
Cellular expression and functional characterization of four hyperpolarization-activated pacemaker channels in cardiac and neuronal tissues
-
Moosmang, S., Stieber, J., Zong, X., Biel, M., Hofmann, F. & Ludwig, A. Cellular expression and functional characterization of four hyperpolarization-activated pacemaker channels in cardiac and neuronal tissues. Eur. J. Biochem. 268, 1646-1652 (2001).
-
(2001)
Eur. J. Biochem
, vol.268
, pp. 1646-1652
-
-
Moosmang, S.1
Stieber, J.2
Zong, X.3
Biel, M.4
Hofmann, F.5
Ludwig, A.6
-
19
-
-
1942534554
-
Compound mutations: A common cause of severe long-QT syndrome
-
Westenskow, P., Splawski, I., Timothy, K. W., Keating, M. T. & Sanguinetti, M. C. Compound mutations: a common cause of severe long-QT syndrome. Circulation 109, 1834-1841 (2004).
-
(2004)
Circulation
, vol.109
, pp. 1834-1841
-
-
Westenskow, P.1
Splawski, I.2
Timothy, K.W.3
Keating, M.T.4
Sanguinetti, M.C.5
-
20
-
-
0026463002
-
Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy
-
Nishi, H., Kimura, A., Harada, H., Toshima, H. & Sasazuki, T. Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 188, 379-387 (1992).
-
(1992)
Biochem. Biophys. Res. Commun
, vol.188
, pp. 379-387
-
-
Nishi, H.1
Kimura, A.2
Harada, H.3
Toshima, H.4
Sasazuki, T.5
-
21
-
-
0029992905
-
Genomic organization of the human SCN5A gene encoding the cardiac sodium channel
-
Wang, Q., Li, Z., Shen, J. & Keating, M. T. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 34, 9-16 (1996).
-
(1996)
Genomics
, vol.34
, pp. 9-16
-
-
Wang, Q.1
Li, Z.2
Shen, J.3
Keating, M.T.4
-
22
-
-
17344389134
-
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1
-
Splawski, I., Shen, J., Timothy, K. W., Vincent, G. M., Lehmann, M. H. & Keating, M. T. Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics 51, 86-97 (1998).
-
(1998)
Genomics
, vol.51
, pp. 86-97
-
-
Splawski, I.1
Shen, J.2
Timothy, K.W.3
Vincent, G.M.4
Lehmann, M.H.5
Keating, M.T.6
-
23
-
-
0035907032
-
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
-
Plaster, N. M., Tawil, R., Tristani-Firouzi, M., Canun, S., Bendahhou, S., Tsunoda, A. et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105, 511-519 (2001).
-
(2001)
Cell
, vol.105
, pp. 511-519
-
-
Plaster, N.M.1
Tawil, R.2
Tristani-Firouzi, M.3
Canun, S.4
Bendahhou, S.5
Tsunoda, A.6
-
24
-
-
0035949603
-
The S4-S5 linker couples voltage sensing and activation of pacemaker channels
-
Chen, J., Mitcheson, J. S., Tristani-Firouzi, M., Lin, M. & Sanguinetti, M. C. The S4-S5 linker couples voltage sensing and activation of pacemaker channels. Proc. Natl. Acad. Sci. 98, 11277-11282 (2001).
-
(2001)
Proc. Natl. Acad. Sci
, vol.98
, pp. 11277-11282
-
-
Chen, J.1
Mitcheson, J.S.2
Tristani-Firouzi, M.3
Lin, M.4
Sanguinetti, M.C.5
-
25
-
-
0032526920
-
Simulation study of cellular electric properties in heart failure
-
Priebe, L. & Beuckelmann, D. J. Simulation study of cellular electric properties in heart failure. Circ. Res. 82, 1206-1223 (1998).
-
(1998)
Circ. Res
, vol.82
, pp. 1206-1223
-
-
Priebe, L.1
Beuckelmann, D.J.2
-
26
-
-
1642336146
-
A model for human ventricular tissue
-
ten Tusscher, K. H., Noble, D., Noble, P. J. & Panfilov, A. V. A model for human ventricular tissue. Am. J. Physiol. Heart Circ. Physiol. 286, H1573-H1589 (2004).
-
(2004)
Am. J. Physiol. Heart Circ. Physiol
, vol.286
-
-
ten Tusscher, K.H.1
Noble, D.2
Noble, P.J.3
Panfilov, A.V.4
-
27
-
-
0028233422
-
A dynamic model of the cardiac ventricular action potential: I. Simulations of ionic currents and concentration changes
-
Luo, C. H. & Rudy, Y. A dynamic model of the cardiac ventricular action potential: I. Simulations of ionic currents and concentration changes. Circ. Res. 74, 1071-1096 (1994).
-
(1994)
Circ. Res
, vol.74
, pp. 1071-1096
-
-
Luo, C.H.1
Rudy, Y.2
-
28
-
-
0034975369
-
The properties of the pacemaker current I(F)in human ventricular myocytes are modulated by cardiac disease
-
Cerbai, E., Sartiani, L., de Paoli, P., Pino, R., Maccherini, M., Bizzarri, F. et al. The properties of the pacemaker current I(F)in human ventricular myocytes are modulated by cardiac disease. J. Mol. Cell. Cardiol. 33, 441-448 (2001).
-
(2001)
J. Mol. Cell. Cardiol
, vol.33
, pp. 441-448
-
-
Cerbai, E.1
Sartiani, L.2
de Paoli, P.3
Pino, R.4
Maccherini, M.5
Bizzarri, F.6
-
29
-
-
0035047603
-
Molecular diversity of pacemaker ion channels
-
Kaupp, U. B. & Seifert, R. Molecular diversity of pacemaker ion channels. Annu. Rev. Physiol. 63, 235-257 (2001).
-
(2001)
Annu. Rev. Physiol
, vol.63
, pp. 235-257
-
-
Kaupp, U.B.1
Seifert, R.2
-
30
-
-
0034852506
-
Prognostic value of electrophysiologic investigations in Brugada syndrome
-
Brugada, P., Geelen, P., Brugada, R., Mont, L. & Brugada, J. Prognostic value of electrophysiologic investigations in Brugada syndrome. J. Cardiovasc. Electrophysiol. 12, 1004-1007 (2001).
-
(2001)
J. Cardiovasc. Electrophysiol
, vol.12
, pp. 1004-1007
-
-
Brugada, P.1
Geelen, P.2
Brugada, R.3
Mont, L.4
Brugada, J.5
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