-
2
-
-
0035830365
-
Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias
-
Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Denjoy I, Guicheney P, Breithardt G, Keating MT, Towbin JA, Beggs AH, Brink P, Wilde AA, Toivonen L, Zareba W, Robinson JL, Timothy KW, Corfield V, Wattanasirichaigoon D, Corbett C, Haverkamp W, Schulze-Bahr E, Lehmann MH, Schwartz K, Coumel P, Bloise R. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 2001;103:89-95. (Pubitemid 32050441)
-
(2001)
Circulation
, vol.103
, Issue.1
, pp. 89-95
-
-
Schwartz, P.J.1
Priori, S.G.2
Spazzolini, C.3
Moss, A.J.4
Michael Vincent, G.5
Napolitano, C.6
Denjoy, I.7
Guicheney, P.8
Breithardt, G.9
Keating, M.T.10
Towbin, J.A.11
Beggs, A.H.12
Brink, P.13
Wilde, A.A.M.14
Toivonen, L.15
Zareba, W.16
Robinson, J.L.17
Timothy, K.W.18
Corfield, V.19
Wattanasirichaigoon, D.20
Corbett, C.21
Haverkamp, W.22
Schulze-Bahr, E.23
Lehmann, M.H.24
Schwartz, K.25
Coumel, P.26
Bloise, R.27
more..
-
3
-
-
0024280882
-
Regulation of a heart potassium channel by protein kinase A and C
-
Walsh KB, Kass RS. Regulation of a heart potassium channel by protein kinase A and C. Science. 1988;242:67-69.
-
(1988)
Science
, vol.242
, pp. 67-69
-
-
Walsh, K.B.1
Kass, R.S.2
-
4
-
-
0037127028
-
Requirement of a macromolecular signaling complex for β adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel
-
DOI 10.1126/science.1066843
-
Marx SO, Kurokawa J, Reiken S, Motoike H, D'Armiento J, Marks AR, Kass RS. Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. Science. 2002;295:496-499. (Pubitemid 34101639)
-
(2002)
Science
, vol.295
, Issue.5554
, 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
-
5
-
-
0034163543
-
Differential effects of beta-adrenergic agonists and antagonist in LQT1, LQT2 and LQT3 models of the long QT syndrome
-
DOI 10.1016/S0735-1097(99)00582-3, PII S0735109799005823
-
Shimizu W, Antzelevitch C. Differential effects of beta-adrenergic agonists and antagonists in LQT1, LQT2 and LQT3 models of the long QT syndrome. J Am Coll Cardiol. 2000;35:778-786. (Pubitemid 30167037)
-
(2000)
Journal of the American College of Cardiology
, vol.35
, Issue.3
, pp. 778-786
-
-
Shimizu, W.1
Antzelevitch, C.2
-
6
-
-
77955258960
-
Beta-blocker efficacy in high-risk patients with the congenital long-QT syndrome types 1 and 2: Implications for patient management
-
Goldenberg I, Bradley J, Moss A, McNitt S, Polonsky S, Robinson JL, Andrews M, Zareba W. Beta-blocker efficacy in high-risk patients with the congenital long-QT syndrome types 1 and 2: Implications for patient management. J Cardiovasc Electrophysiol. 2010;21:893-901.
-
(2010)
J Cardiovasc Electrophysiol
, vol.21
, pp. 893-901
-
-
Goldenberg, I.1
Bradley, J.2
Moss, A.3
McNitt, S.4
Polonsky, S.5
Robinson, J.L.6
Andrews, M.7
Zareba, W.8
-
7
-
-
29144529013
-
The KCNQ1 potassium channel: From gene to physiological function
-
DOI 10.1152/physiol.00031.2005
-
Jespersen T, Grunnet M, Olesen SP. The KCNQ1 potassium channel: from gene to physiological function. Physiology. 2005;20:408-416. (Pubitemid 41812424)
-
(2005)
Physiology
, Issue.6
, pp. 408-416
-
-
Jespersen, T.1
Grunnet, M.2
Olesen, S.-P.3
-
8
-
-
34248512934
-
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene
-
DOI 10.1161/CIRCULATIONAHA.106.665406
-
Moss AJ, Shimizu W, Wilde AA, Towbin JA, Zareba W, Robinson JL, Qi M, Vincent GM, Ackerman MJ, Kaufman ES, Hofman N, Seth R, Kamakura S, Miyamoto Y, Goldenberg I, Andrews ML, McNitt S. Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007;115:2481-2489. (Pubitemid 46763221)
-
(2007)
Circulation
, vol.115
, Issue.19
, pp. 2481-2489
-
-
Moss, A.J.1
Shimizu, W.2
Wilde, A.A.M.3
Towbin, J.A.4
Zareba, W.5
Robinson, J.L.6
Qi, M.7
Vincent, G.M.8
Ackerman, M.J.9
Kaufman, E.S.10
Hofman, N.11
Seth, R.12
Kamakura, S.13
Miyamoto, Y.14
Goldenberg, I.15
Andrews, M.L.16
McNitt, S.17
-
9
-
-
75649100572
-
PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions
-
Matavel A, Medei E, Lopes CM. PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. Channels. 2010; 4:3-11.
-
(2010)
Channels
, vol.4
, pp. 3-11
-
-
Matavel, A.1
Medei, E.2
Lopes, C.M.3
-
10
-
-
79953240326
-
Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients
-
Jons C, J OU, Moss AJ, Reumann M, Rice JJ, Goldenberg I, Zareba W, Wilde AA, Shimizu W, Kanters JK, McNitt S, Hofman N, Robinson JL, Lopes CM. Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients. Sci Transl Med. 2011;3: 76ra28.
-
(2011)
Sci Transl Med
, vol.3
-
-
Jons, C.1
Ou, J.2
Moss, A.J.3
Reumann, M.4
Rice, J.J.5
Goldenberg, I.6
Zareba, W.7
Wilde, A.A.8
Shimizu, W.9
Kanters, J.K.10
McNitt, S.11
Hofman, N.12
Robinson, J.L.13
Lopes, C.M.14
-
11
-
-
84855370169
-
Adrenergic signaling controls RGK-dependent trafficking of cardiac voltage-gated L-type Ca2+ channels through PKD1
-
Jhun BS, J OU, Wang W, Ha CH, Zhao J, Kim JY, Wong C, Dirksen RT, Lopes CM, Jin ZG. Adrenergic signaling controls RGK-dependent trafficking of cardiac voltage-gated L-type Ca2+ channels through PKD1. Circ Res. 2012;110:59-70.
-
(2012)
Circ Res
, vol.110
, pp. 59-70
-
-
Jhun, B.S.1
Ou, J.2
Wang, W.3
Ha, C.H.4
Zhao, J.5
Kim, J.Y.6
Wong, C.7
Dirksen, R.T.8
Lopes, C.M.9
Jin, Z.G.10
-
12
-
-
33748670923
-
Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome
-
DOI 10.1001/jama.296.10.1249
-
Hobbs JB, Peterson DR, Moss AJ, McNitt S, Zareba W, Goldenberg I, Qi M, Robinson JL, Sauer AJ, Ackerman MJ, Benhorin J, Kaufman ES, Locati EH, Napolitano C, Priori SG, Towbin JA, Vincent GM, Zhang L. Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome. JAMA. 2006;296:1249-1254. (Pubitemid 44394896)
-
(2006)
Journal of the American Medical Association
, vol.296
, Issue.10
, pp. 1249-1254
-
-
Hobbs, J.B.1
Peterson, D.R.2
Moss, A.J.3
McNitt, S.4
Zareba, W.5
Goldenberg, I.6
Qi, M.7
Robinson, J.L.8
Sauer, A.J.9
Ackerman, M.J.10
Benhorin, J.11
Kaufman, E.S.12
Locati, E.H.13
Napolitano, C.14
Priori, S.G.15
Towbin, J.A.16
Vincent, G.M.17
Zhang, L.18
-
13
-
-
44049105493
-
Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome
-
Goldenberg I, Moss AJ, Peterson DR, McNitt S, Zareba W, Andrews ML, Robinson JL, Locati EH, Ackerman MJ, Benhorin J, Kaufman ES, Napolitano C, Priori SG, Qi M, Schwartz PJ, Towbin JA, Vincent GM, Zhang L. Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome. Circulation. 2008; 117:2184-2191.
-
(2008)
Circulation
, vol.117
, pp. 2184-2191
-
-
Goldenberg, I.1
Moss, A.J.2
Peterson, D.R.3
McNitt, S.4
Zareba, W.5
Andrews, M.L.6
Robinson, J.L.7
Locati, E.H.8
Ackerman, M.J.9
Benhorin, J.10
Kaufman, E.S.11
Napolitano, C.12
Priori, S.G.13
Qi, M.14
Schwartz, P.J.15
Towbin, J.A.16
Vincent, G.M.17
Zhang, L.18
-
14
-
-
0032499656
-
Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: Findings from the international LQTS registry
-
Locati EH, Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Lehmann MH, Towbin JA, Priori SG, Napolitano C, Robinson JL, Andrews M, Timothy K, Hall WJ. Age-and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the international LQTS registry. Circulation. 1998;97:2237-2244. (Pubitemid 28265385)
-
(1998)
Circulation
, vol.97
, Issue.22
, pp. 2237-2244
-
-
Locati, E.H.1
Zareba, W.2
Moss, A.J.3
Schwartz, P.J.4
Michael Vincent, G.5
Lehmann, M.H.6
Towbin, J.A.7
Priori, S.G.8
Napolitano, C.9
Robinson, J.L.10
Andrews, M.11
Timothy, K.12
Hall, W.J.13
-
15
-
-
10744231816
-
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome
-
DOI 10.1046/j.1540-8167.2003.03177.x
-
Zareba W, Moss AJ, Sheu G, Kaufman ES, Priori S, Vincent GM, Towbin JA, Benhorin J, Schwartz PJ, Napolitano C, Hall WJ, Keating MT, Qi M, Robinson JL, Andrews ML. Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003;14:1149-1153. (Pubitemid 37452880)
-
(2003)
Journal of Cardiovascular Electrophysiology
, vol.14
, Issue.11
, pp. 1149-1153
-
-
Zareba, W.1
Moss, A.J.2
Sheu, G.3
Kaufman, E.S.4
Priori, S.5
Vincent, G.M.6
Towbin, J.A.7
Benhorin, J.8
Schwartz, P.J.9
Napolitano, C.10
Hall, W.J.11
Keating, M.T.12
Qi, M.13
Robinson, J.L.14
Andrews, M.L.15
-
16
-
-
33846186813
-
Long QT syndrome in adults
-
DOI 10.1016/j.jacc.2006.08.057, PII S0735109706026519
-
Sauer AJ, Moss AJ, McNitt S, Peterson DR, Zareba W, Robinson JL, Qi M, Goldenberg I, Hobbs JB, Ackerman MJ, Benhorin J, Hall WJ, Kaufman ES, Locati EH, Napolitano C, Priori SG, Schwartz PJ, Towbin JA, Vincent GM, Zhang L. Long QT syndrome in adults. J Am Coll Cardiol. 2007;49:329-337. (Pubitemid 46097383)
-
(2007)
Journal of the American College of Cardiology
, vol.49
, Issue.3
, pp. 329-337
-
-
Sauer, A.J.1
Moss, A.J.2
McNitt, S.3
Peterson, D.R.4
Zareba, W.5
Robinson, J.L.6
Qi, M.7
Goldenberg, I.8
Hobbs, J.B.9
Ackerman, M.J.10
Benhorin, J.11
Hall, W.J.12
Kaufman, E.S.13
Locati, E.H.14
Napolitano, C.15
Priori, S.G.16
Schwartz, P.J.17
Towbin, J.A.18
Vincent, G.M.19
Zhang, L.20
more..
-
17
-
-
84892372742
-
The robust inference for the proportional hazards model
-
Lin DY, Wei LJ. The robust inference for the proportional hazards model. J Am Stat Assoc. 1989;84:1074-1078.
-
(1989)
J Am Stat Assoc
, vol.84
, pp. 1074-1078
-
-
Lin, D.Y.1
Wei, L.J.2
-
19
-
-
19444363685
-
Autonomic control of cardiac action potentials: Role of potassium channel kinetics in response to sympathetic stimulation
-
Terrenoire C, Clancy CE, Cormier JW, Sampson KJ, Kass RS. Autonomic control of cardiac action potentials: role of potassium channel kinetics in response to sympathetic stimulation. Circ Res. 2005;96: e25-e34.
-
(2005)
Circ Res
, vol.96
-
-
Terrenoire, C.1
Clancy, C.E.2
Cormier, J.W.3
Sampson, K.J.4
Kass, R.S.5
-
20
-
-
0035032692
-
Akap proteins anchor CAMP-dependent protein kinase to KVLQT1/ISK channel complex
-
Potet F, Scott JD, Mohammad-Panah R, Escande D, Baro I. Akap proteins anchor CAMP-dependent protein kinase to KVLQT1/ISK channel complex. Am J Physiol Heart Circ Physiol. 2001;280:H2038-H2045.
-
(2001)
Am J Physiol Heart Circ Physiol
, vol.280
-
-
Potet, F.1
Scott, J.D.2
Mohammad-Panah, R.3
Escande, D.4
Baro, I.5
-
21
-
-
3242752714
-
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
-
DOI 10.1016/j.jacc.2004.03.043, PII S0735109704007107
-
Shimizu W, Horie M, Ohno S, Takenaka K, Yamaguchi M, Shimizu M, Washizuka T, Aizawa Y, Nakamura K, Ohe T, Aiba T, Miyamoto Y, Yoshimasa Y, Towbin JA, Priori SG, Kamakura S. 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. 2004;44:117-125. (Pubitemid 38968469)
-
(2004)
Journal of the American College of Cardiology
, vol.44
, Issue.1
, pp. 117-125
-
-
Shimizu, W.1
Horie, M.2
Ohno, S.3
Takenaka, K.4
Yamaguchi, M.5
Shimizu, M.6
Washizuka, T.7
Aizawa, Y.8
Nakamura, K.9
Ohe, T.10
Aiba, T.11
Miyamoto, Y.12
Yoshimasa, Y.13
Towbin, J.A.14
Priori, S.G.15
Kamakura, S.16
-
22
-
-
0025900745
-
+ channel
-
Isacoff EY, Jan YN, Jan LY. Putative receptor for the cytoplasmic inactivation gate in the shaker K-channel. Nature. 1991;353:86-90. (Pubitemid 21912464)
-
(1991)
Nature
, vol.353
, Issue.6339
, pp. 86-90
-
-
Isacoff, E.Y.1
Jan, Y.N.2
Jan, L.Y.3
-
23
-
-
0033597857
-
Long QT syndrome-associated mutations in the S4-S5 linker of KVLQT1 potassium channels modify gating and interaction with mink subunits
-
Franqueza L, Lin M, Shen J, Splawski I, Keating MT, Sanguinetti MC. Long QT syndrome-associated mutations in the S4-S5 linker of KVLQT1 potassium channels modify gating and interaction with mink subunits. J Biol Chem. 1999;274:21063-21070.
-
(1999)
J Biol Chem
, vol.274
, pp. 21063-21070
-
-
Franqueza, L.1
Lin, M.2
Shen, J.3
Splawski, I.4
Keating, M.T.5
Sanguinetti, M.C.6
-
24
-
-
77957729169
-
Patient-specific induced pluripotent stem-cell models for long-QT syndrome
-
Moretti A, Bellin M, Welling A, Jung CB, Lam JT, Bott-Flugel L, Dorn T, Goedel A, Hohnke C, Hofmann F, Seyfarth M, Sinnecker D, Schomig A, Laugwitz KL. Patient-specific induced pluripotent stem-cell models for long-QT syndrome. N Engl J Med. 2010;363:1397-1409.
-
(2010)
N Engl J Med
, vol.363
, pp. 1397-1409
-
-
Moretti, A.1
Bellin, M.2
Welling, A.3
Jung, C.B.4
Lam, J.T.5
Bott-Flugel, L.6
Dorn, T.7
Goedel, A.8
Hohnke, C.9
Hofmann, F.10
Seyfarth, M.11
Sinnecker, D.12
Schomig, A.13
Laugwitz, K.L.14
-
25
-
-
84856058439
-
Dominant-negative control of cAMPdependent IKs upregulation in human long-QT syndrome type 1
-
Heijman J, Spatjens RL, Seyen SR, Lentink V, Kuijpers HJ, Boulet IR, de Windt LJ, David M, Volders PG. Dominant-negative control of cAMPdependent IKs upregulation in human long-QT syndrome type 1. Circ Res. 2012;110:211-219.
-
(2012)
Circ Res
, vol.110
, pp. 211-219
-
-
Heijman, J.1
Spatjens, R.L.2
Seyen, S.R.3
Lentink, V.4
Kuijpers, H.J.5
Boulet, I.R.6
De Windt, L.J.7
David, M.8
Volders, P.G.9
-
26
-
-
78650939755
-
KCNQ1 channels voltage dependence through a voltage-dependent binding of the S4-S5 linker to the pore domain
-
Choveau FS, Rodriguez N, Ali FA, Labro AJ, Rose T, Dahimene S, Boudin H, Le Henaff C, Escande D, Snyders DJ, Charpentier F, Merot J, Baro I, Loussouarn G. KCNQ1 channels voltage dependence through a voltage-dependent binding of the S4-S5 linker to the pore domain. J Biol Chem. 2011;286:707-716.
-
(2011)
J Biol Chem
, vol.286
, pp. 707-716
-
-
Choveau, F.S.1
Rodriguez, N.2
Ali, F.A.3
Labro, A.J.4
Rose, T.5
Dahimene, S.6
Boudin, H.7
Le Henaff, C.8
Escande, D.9
Snyders, D.J.10
Charpentier, F.11
Merot, J.12
Baro, I.13
Loussouarn, G.14
-
27
-
-
33748575897
-
ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death
-
A report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death): Developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society
-
Zipes DP, Camm AJ, Borggrefe M, Buxton AE, Chaitman B, Fromer M, Gregoratos G, Klein G, Moss AJ, Myerburg RJ, Priori SG, Quinones MA, Roden DM, Silka MJ, Tracy C, Smith SC Jr, Jacobs AK, Adams CD, Antman EM, Anderson JL, Hunt SA, Halperin JL, Nishimura R, Ornato JP, Page RL, Riegel B, Blanc JJ, Budaj A, Dean V, Deckers JW, Despres C, Dickstein K, Lekakis J, McGregor K, Metra M, Morais J, Osterspey A, Tamargo JL, Zamorano JL. ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death): developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Circulation. 2006;114:e385-e484.
-
(2006)
Circulation
, vol.114
-
-
Zipes, D.P.1
Camm, A.J.2
Borggrefe, M.3
Buxton, A.E.4
Chaitman, B.5
Fromer, M.6
Gregoratos, G.7
Klein, G.8
Moss, A.J.9
Myerburg, R.J.10
Priori, S.G.11
Quinones, M.A.12
Roden, D.M.13
Silka, M.J.14
Tracy, C.15
Smith Jr., S.C.16
Jacobs, A.K.17
Adams, C.D.18
Antman, E.M.19
Anderson, J.L.20
Hunt, S.A.21
Halperin, J.L.22
Nishimura, R.23
Ornato, J.P.24
Page, R.L.25
Riegel, B.26
Blanc, J.J.27
Budaj, A.28
Dean, V.29
Deckers, J.W.30
Despres, C.31
Dickstein, K.32
Lekakis, J.33
McGregor, K.34
Metra, M.35
Morais, J.36
Osterspey, A.37
Tamargo, J.L.38
Zamorano, J.L.39
more..
-
28
-
-
7744233470
-
Intracellular calcium cycling, early afterdepolarizations, and reentry in simulated long QT syndrome
-
DOI 10.1016/j.hrthm.2004.06.005, PII S1547527104002942
-
Huffaker R, Lamp ST, Weiss JN, Kogan B. Intracellular calcium cycling, early afterdepolarizations, and reentry in simulated long QT syndrome. Heart Rhythm. 2004;1:441-448. (Pubitemid 39462617)
-
(2004)
Heart Rhythm
, vol.1
, Issue.4
, pp. 441-448
-
-
Huffaker, R.1
Lamp, S.T.2
Weiss, J.N.3
Kogan, B.4
|