-
1
-
-
73049097840
-
Cardiac sodium channel Na(v)1.5 and interacting proteins: physiology and pathophysiology
-
Abriel H. 2010. Cardiac sodium channel Na(v)1.5 and interacting proteins: physiology and pathophysiology. J Mol Cell Cardiol 48(1):2-11.
-
(2010)
J Mol Cell Cardiol
, vol.48
, Issue.1
, pp. 2-11
-
-
Abriel, H.1
-
2
-
-
7744243863
-
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing
-
Ackerman MJ, Splawski I, Makielski JC, Tester DJ, Will ML, Timothy KW, Keating MT, Jones G, Chadha M, Burrow CR, Stephens JC, Xu C, et al. 2004. Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm 1(5):600-607.
-
(2004)
Heart Rhythm
, vol.1
, Issue.5
, pp. 600-607
-
-
Ackerman, M.J.1
Splawski, I.2
Makielski, J.C.3
Tester, D.J.4
Will, M.L.5
Timothy, K.W.6
Keating, M.T.7
Jones, G.8
Chadha, M.9
Burrow, C.R.10
Stephens, J.C.11
Xu, C.12
-
4
-
-
84863216842
-
Brugada syndrome 2012
-
Berne P, Brugada J. 2012. Brugada syndrome 2012. Circ J 76(7):1563-1571.
-
(2012)
Circ J
, vol.76
, Issue.7
, pp. 1563-1571
-
-
Berne, P.1
Brugada, J.2
-
5
-
-
34250195326
-
Channelopathies: a new category of diseases causing sudden death
-
Brugada J, Brugada R, Brugada P. 2007. Channelopathies: a new category of diseases causing sudden death. Herz 32(3):185-191.
-
(2007)
Herz
, vol.32
, Issue.3
, pp. 185-191
-
-
Brugada, J.1
Brugada, R.2
Brugada, P.3
-
6
-
-
0026466921
-
Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report
-
Brugada P, Brugada J. 1992. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol 20(6):1391-1396.
-
(1992)
J Am Coll Cardiol
, vol.20
, Issue.6
, pp. 1391-1396
-
-
Brugada, P.1
Brugada, J.2
-
7
-
-
84861716984
-
Voltage-gated sodium channels at 60: structure, function and pathophysiology
-
Catterall WA. 2012. Voltage-gated sodium channels at 60: structure, function and pathophysiology. J Physiol 590(Pt 11):2577-2589.
-
(2012)
J Physiol
, vol.590
, Issue.PART 11
, pp. 2577-2589
-
-
Catterall, W.A.1
-
8
-
-
0036801431
-
Defective cardiac ion channels: from mutations to clinical syndromes
-
Clancy CE, Kass RS. 2002. Defective cardiac ion channels: from mutations to clinical syndromes. J Clin Invest 110(8):1075-1077.
-
(2002)
J Clin Invest
, vol.110
, Issue.8
, pp. 1075-1077
-
-
Clancy, C.E.1
Kass, R.S.2
-
9
-
-
84869051817
-
Identification of the cysteine residue responsible for disulfide linkage of Na+ channel alpha and beta2 subunits
-
Chen C, Calhoun JD, Zhang Y, Lopez-Santiago L, Zhou N, Davis TH, Salzer JL, Isom LL. 2012. Identification of the cysteine residue responsible for disulfide linkage of Na+ channel alpha and beta2 subunits. J Biol Chem 287(46):39061-39069.
-
(2012)
J Biol Chem
, vol.287
, Issue.46
, pp. 39061-39069
-
-
Chen, C.1
Calhoun, J.D.2
Zhang, Y.3
Lopez-Santiago, L.4
Zhou, N.5
Davis, T.H.6
Salzer, J.L.7
Isom, L.L.8
-
10
-
-
0032546384
-
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
-
Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, Potenza D, Moya A, Borggrefe M, Breithardt G, Ortiz-Lopez R, Wang Z, et al. 1998. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 392(6673):293-296.
-
(1998)
Nature
, vol.392
, Issue.6673
, pp. 293-296
-
-
Chen, Q.1
Kirsch, G.E.2
Zhang, D.3
Brugada, R.4
Brugada, J.5
Brugada, P.6
Potenza, D.7
Moya, A.8
Borggrefe, M.9
Breithardt, G.10
Ortiz-Lopez, R.11
Wang, Z.12
-
11
-
-
0035814946
-
Characterization of sodium channel alpha- and beta-subunits in rat and mouse cardiac myocytes
-
Dhar Malhotra J, Chen C, Rivolta I, Abriel H, Malhotra R, Mattei LN, Brosius FC, Kass RS, Isom LL. 2001. Characterization of sodium channel alpha- and beta-subunits in rat and mouse cardiac myocytes. Circulation 103(9):1303-1310.
-
(2001)
Circulation
, vol.103
, Issue.9
, pp. 1303-1310
-
-
Dhar Malhotra, J.1
Chen, C.2
Rivolta, I.3
Abriel, H.4
Malhotra, R.5
Mattei, L.N.6
Brosius, F.C.7
Kass, R.S.8
Isom, L.L.9
-
12
-
-
84870933622
-
Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes
-
Giudicessi JR, Ackerman MJ. 2012. Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes. Transl Res 161(1):1-14.
-
(2012)
Transl Res
, vol.161
, Issue.1
, pp. 1-14
-
-
Giudicessi, J.R.1
Ackerman, M.J.2
-
13
-
-
0021360647
-
The sodium channel from rat brain. Purification and subunit composition
-
Hartshorne RP, Catterall WA. 1984. The sodium channel from rat brain. Purification and subunit composition. J Biol Chem 259(3):1667-1675.
-
(1984)
J Biol Chem
, vol.259
, Issue.3
, pp. 1667-1675
-
-
Hartshorne, R.P.1
Catterall, W.A.2
-
14
-
-
0020464124
-
The saxitoxin receptor of the sodium channel from rat brain. Evidence for two nonidentical beta subunits
-
Hartshorne RP, Messner DJ, Coppersmith JC, Catterall WA. 1982. The saxitoxin receptor of the sodium channel from rat brain. Evidence for two nonidentical beta subunits. J Biol Chem 257(23):13888-13891.
-
(1982)
J Biol Chem
, vol.257
, Issue.23
, pp. 13888-13891
-
-
Hartshorne, R.P.1
Messner, D.J.2
Coppersmith, J.C.3
Catterall, W.A.4
-
15
-
-
69549145477
-
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype
-
Hu D, Barajas-Martinez H, Burashnikov E, Springer M, Wu Y, Varro A, Pfeiffer R, Koopmann TT, Cordeiro JM, Guerchicoff A, Pollevick GD, Antzelevitch C. 2009. A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ Cardiovasc Genet 2(3):270-278.
-
(2009)
Circ Cardiovasc Genet
, vol.2
, Issue.3
, pp. 270-278
-
-
Hu, D.1
Barajas-Martinez, H.2
Burashnikov, E.3
Springer, M.4
Wu, Y.5
Varro, A.6
Pfeiffer, R.7
Koopmann, T.T.8
Cordeiro, J.M.9
Guerchicoff, A.10
Pollevick, G.D.11
Antzelevitch, C.12
-
16
-
-
84859978568
-
A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents
-
Hu D, Barajas-Martinez H, Medeiros-Domingo A, Crotti L, Veltmann C, Schimpf R, Urrutia J, Alday A, Casis O, Pfeiffer R, Burashnikov E, Caceres G, et al. 2012. A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents. Heart Rhythm 9(5):760-769.
-
(2012)
Heart Rhythm
, vol.9
, Issue.5
, pp. 760-769
-
-
Hu, D.1
Barajas-Martinez, H.2
Medeiros-Domingo, A.3
Crotti, L.4
Veltmann, C.5
Schimpf, R.6
Urrutia, J.7
Alday, A.8
Casis, O.9
Pfeiffer, R.10
Burashnikov, E.11
Caceres, G.12
-
17
-
-
0028972374
-
Structure and function of the beta 2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif
-
Isom LL, Ragsdale DS, De Jongh KS, Westenbroek RE, Reber BF, Scheuer T, Catterall WA. 1995. Structure and function of the beta 2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif. Cell 83(3):433-442.
-
(1995)
Cell
, vol.83
, Issue.3
, pp. 433-442
-
-
Isom, L.L.1
Ragsdale, D.S.2
De Jongh, K.S.3
Westenbroek, R.E.4
Reber, B.F.5
Scheuer, T.6
Catterall, W.A.7
-
18
-
-
72449147774
-
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
-
Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, et al. 2010. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 7(1):33-46.
-
(2010)
Heart Rhythm
, vol.7
, Issue.1
, pp. 33-46
-
-
Kapplinger, J.D.1
Tester, D.J.2
Alders, M.3
Benito, B.4
Berthet, M.5
Brugada, J.6
Brugada, P.7
Fressart, V.8
Guerchicoff, A.9
Harris-Kerr, C.10
Kamakura, S.11
Kyndt, F.12
-
19
-
-
0033978892
-
Cloning, localization, and functional expression of sodium channel beta1A subunits
-
Kazen-Gillespie KA, Ragsdale DS, D'Andrea MR, Mattei LN, Rogers KE, Isom LL. 2000. Cloning, localization, and functional expression of sodium channel beta1A subunits. J Biol Chem 275(2):1079-1088.
-
(2000)
J Biol Chem
, vol.275
, Issue.2
, pp. 1079-1088
-
-
Kazen-Gillespie, K.A.1
Ragsdale, D.S.2
D'Andrea, M.R.3
Mattei, L.N.4
Rogers, K.E.5
Isom, L.L.6
-
20
-
-
34249686444
-
Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort
-
Koopmann TT, Beekman L, Alders M, Meregalli PG, Mannens MM, Moorman AF, Wilde AA, Bezzina CR. 2007. Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort. Heart Rhythm 4(6):752-755.
-
(2007)
Heart Rhythm
, vol.4
, Issue.6
, pp. 752-755
-
-
Koopmann, T.T.1
Beekman, L.2
Alders, M.3
Meregalli, P.G.4
Mannens, M.M.5
Moorman, A.F.6
Wilde, A.A.7
Bezzina, C.R.8
-
21
-
-
34447307435
-
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome
-
Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusie-Luna MT, Makielski JC, Ackerman MJ. 2007. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 116(2):134-142.
-
(2007)
Circulation
, vol.116
, Issue.2
, pp. 134-142
-
-
Medeiros-Domingo, A.1
Kaku, T.2
Tester, D.J.3
Iturralde-Torres, P.4
Itty, A.5
Ye, B.6
Valdivia, C.7
Ueda, K.8
Canizales-Quinteros, S.9
Tusie-Luna, M.T.10
Makielski, J.C.11
Ackerman, M.J.12
-
22
-
-
0022244856
-
The sodium channel from rat brain. Separation and characterization of subunits
-
Messner DJ, Catterall WA. 1985. The sodium channel from rat brain. Separation and characterization of subunits. J Biol Chem 260(19):10597-10604.
-
(1985)
J Biol Chem
, vol.260
, Issue.19
, pp. 10597-10604
-
-
Messner, D.J.1
Catterall, W.A.2
-
23
-
-
12944260700
-
beta 3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics
-
Morgan K, Stevens EB, Shah B, Cox PJ, Dixon AK, Lee K, Pinnock RD, Hughes J, Richardson PJ, Mizuguchi K, Jackson AP. 2000. beta 3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics. Proc Natl Acad Sci USA 97(5):2308-2313.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, Issue.5
, pp. 2308-2313
-
-
Morgan, K.1
Stevens, E.B.2
Shah, B.3
Cox, P.J.4
Dixon, A.K.5
Lee, K.6
Pinnock, R.D.7
Hughes, J.8
Richardson, P.J.9
Mizuguchi, K.10
Jackson, A.P.11
-
24
-
-
77449091606
-
SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome
-
Probst V, Wilde AA, Barc J, Sacher F, Babuty D, Mabo P, Mansourati J, Le Scouarnec S, Kyndt F, Le Caignec C, Guicheney P, Gouas L, et al. 2009. SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet 2(6):552-557.
-
(2009)
Circ Cardiovasc Genet
, vol.2
, Issue.6
, pp. 552-557
-
-
Probst, V.1
Wilde, A.A.2
Barc, J.3
Sacher, F.4
Babuty, D.5
Mabo, P.6
Mansourati, J.7
Le Scouarnec, S.8
Kyndt, F.9
Le Caignec, C.10
Guicheney, P.11
Gouas, L.12
-
25
-
-
13644251431
-
Molecular determinants of voltage-gated sodium channel regulation by the Nedd4/Nedd4-like proteins
-
Rougier JS, van Bemmelen MX, Bruce MC, Jespersen T, Gavillet B, Apotheloz F, Cordonier S, Staub O, Rotin D, Abriel H. 2005. Molecular determinants of voltage-gated sodium channel regulation by the Nedd4/Nedd4-like proteins. Am J Physiol Cell Physiol 288(3):C692-C701.
-
(2005)
Am J Physiol Cell Physiol
, vol.288
, Issue.3
-
-
Rougier, J.S.1
van Bemmelen, M.X.2
Bruce, M.C.3
Jespersen, T.4
Gavillet, B.5
Apotheloz, F.6
Cordonier, S.7
Staub, O.8
Rotin, D.9
Abriel, H.10
-
26
-
-
84875073626
-
Cardiac sodium channel Na(V)1.5 distribution in myocytes via interacting proteins: the multiple pool model
-
Shy D, Gillet L, Abriel H. 2012. Cardiac sodium channel Na(V)1.5 distribution in myocytes via interacting proteins: the multiple pool model. Biochim Biophys Acta 1833:886-894.
-
(2012)
Biochim Biophys Acta
, vol.1833
, pp. 886-894
-
-
Shy, D.1
Gillet, L.2
Abriel, H.3
-
27
-
-
21344433631
-
Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants
-
Tan BH, Valdivia CR, Rok BA, Ye B, Ruwaldt KM, Tester DJ, Ackerman MJ, Makielski JC. 2005. Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm 2(7):741-747.
-
(2005)
Heart Rhythm
, vol.2
, Issue.7
, pp. 741-747
-
-
Tan, B.H.1
Valdivia, C.R.2
Rok, B.A.3
Ye, B.4
Ruwaldt, K.M.5
Tester, D.J.6
Ackerman, M.J.7
Makielski, J.C.8
-
28
-
-
70349451838
-
Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation
-
Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM. 2009. Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation. Circ Arrhythm Electrophysiol 2(3):268-275.
-
(2009)
Circ Arrhythm Electrophysiol
, vol.2
, Issue.3
, pp. 268-275
-
-
Watanabe, H.1
Darbar, D.2
Kaiser, D.W.3
Jiramongkolchai, K.4
Chopra, S.5
Donahue, B.S.6
Kannankeril, P.J.7
Roden, D.M.8
-
29
-
-
45749090058
-
Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans
-
Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, et al. 2008. Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest 118(6):2260-2268.
-
(2008)
J Clin Invest
, vol.118
, Issue.6
, pp. 2260-2268
-
-
Watanabe, H.1
Koopmann, T.T.2
Le Scouarnec, S.3
Yang, T.4
Ingram, C.R.5
Schott, J.J.6
Demolombe, S.7
Probst, V.8
Anselme, F.9
Escande, D.10
Wiesfeld, A.C.11
Pfeufer, A.12
-
30
-
-
79954578382
-
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel
-
Wilde AA, Brugada R. 2011. Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel. Circ Res 108(7):884-897.
-
(2011)
Circ Res
, vol.108
, Issue.7
, pp. 884-897
-
-
Wilde, A.A.1
Brugada, R.2
-
31
-
-
0041419702
-
Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2
-
Yu FH, Westenbroek RE, Silos-Santiago I, McCormick KA, Lawson D, Ge P, Ferriera H, Lilly J, DiStefano PS, Catterall WA, Scheuer T, Curtis R. 2003. Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2. J Neurosci 23(20):7577-7585.
-
(2003)
J Neurosci
, vol.23
, Issue.20
, pp. 7577-7585
-
-
Yu, F.H.1
Westenbroek, R.E.2
Silos-Santiago, I.3
McCormick, K.A.4
Lawson, D.5
Ge, P.6
Ferriera, H.7
Lilly, J.8
DiStefano, P.S.9
Catterall, W.A.10
Scheuer, T.11
Curtis, R.12
-
32
-
-
34250337790
-
The intracellular domain of the beta 2 subunit modulates the gating of cardiac Na v 1.5 channels
-
Zimmer T, Benndorf K. 2007. The intracellular domain of the beta 2 subunit modulates the gating of cardiac Na v 1.5 channels. Biophys J 92(11):3885-3892.
-
(2007)
Biophys J
, vol.92
, Issue.11
, pp. 3885-3892
-
-
Zimmer, T.1
Benndorf, K.2
-
33
-
-
0036489217
-
The beta1 subunit but not the beta2 subunit colocalizes with the human heart Na+ channel (hH1) already within the endoplasmic reticulum
-
Zimmer T, Biskup C, Bollensdorff C, Benndorf K. 2002. The beta1 subunit but not the beta2 subunit colocalizes with the human heart Na+ channel (hH1) already within the endoplasmic reticulum. J Membr Biol 186(1):13-21.
-
(2002)
J Membr Biol
, vol.186
, Issue.1
, pp. 13-21
-
-
Zimmer, T.1
Biskup, C.2
Bollensdorff, C.3
Benndorf, K.4
|