-
1
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
T.A. Manolio, F.S. Collins, N.J. Cox Finding the missing heritability of complex diseases Nature 461 2009 747 753
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
-
2
-
-
34147116715
-
Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
-
DOI 10.1086/513473
-
G.V. Kryukov, L.A. Pennacchio, S.R. Sunyaev Most rare missense alleles are deleterious in humans: implications for complex disease and association studies Am J Hum Genet 80 2007 727 739 (Pubitemid 46564409)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.4
, pp. 727-739
-
-
Kryukov, G.V.1
Pennacchio, L.A.2
Sunyaev, S.R.3
-
3
-
-
3843056691
-
Multiple rare alleles contribute to low plasma levels of HDL cholesterol
-
DOI 10.1126/science.1099870
-
J.C. Cohen, R.S. Kiss, A. Pertsemlidis, Y.L. Marcel, R. McPherson, H.H. Hobbs Multiple rare alleles contribute to low plasma levels of HDL cholesterol Science 305 2004 869 872 (Pubitemid 39038422)
-
(2004)
Science
, vol.305
, Issue.5685
, pp. 869-872
-
-
Cohen, J.C.1
Kiss, R.S.2
Pertsemlidis, A.3
Marcel, Y.L.4
McPherson, R.5
Hobbs, H.H.6
-
4
-
-
79959667218
-
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy
-
T. Klassen, C. Davis, A. Goldman Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy Cell 145 2011 1036 1048
-
(2011)
Cell
, vol.145
, pp. 1036-1048
-
-
Klassen, T.1
Davis, C.2
Goldman, A.3
-
5
-
-
0345411335
-
The ubiquitous nature of epistasis in determining susceptibility to common human diseases
-
DOI 10.1159/000073735
-
J.H. Moore The ubiquitous nature of epistasis in determining susceptibility to common human diseases Hum Hered 56 2003 73 82 (Pubitemid 37465073)
-
(2003)
Human Heredity
, vol.56
, Issue.1-3
, pp. 73-82
-
-
Moore, J.H.1
-
6
-
-
34547876864
-
Genes and atrial fibrillation: A new look at an old problem
-
DOI 10.1161/CIRCULATIONAHA.106.688889, PII 0000301720070814000017
-
D. Fatkin, R. Otway, J.I. Vandenberg Genes and atrial fibrillation: a new look at an old problem Circulation 116 2007 782 792 (Pubitemid 47255996)
-
(2007)
Circulation
, vol.116
, Issue.7
, pp. 782-792
-
-
Fatkin, D.1
Otway, R.2
Vandenberg, J.I.3
-
7
-
-
38349152549
-
KCNE3 mutation V17M identified in a patient with lone atrial fibrillation
-
A. Lundby, L.S. Ravn, J.H. Svendsen, S. Hauns, S.P. Olesen, N. Schmitt KCNE3 mutation V17M identified in a patient with lone atrial fibrillation Cell Physiol Biochem 21 2008 47 54
-
(2008)
Cell Physiol Biochem
, vol.21
, pp. 47-54
-
-
Lundby, A.1
Ravn, L.S.2
Svendsen, J.H.3
Hauns, S.4
Olesen, S.P.5
Schmitt, N.6
-
8
-
-
39649099974
-
Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation
-
L.S. Ravn, Y. Aizawa, G.D. Pollevick Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation Heart Rhythm 5 2008 427 435
-
(2008)
Heart Rhythm
, vol.5
, pp. 427-435
-
-
Ravn, L.S.1
Aizawa, Y.2
Pollevick, G.D.3
-
9
-
-
33846517015
-
ATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation
-
DOI 10.1038/ncpcardio0792, PII NCPCARDIO0792
-
T.M. Olson, A.E. Alekseev, C. Moreau KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation Nat Clin Prac Cardiovasc Med 4 2007 110 116 (Pubitemid 46165273)
-
(2007)
Nature Clinical Practice Cardiovascular Medicine
, vol.4
, Issue.2
, pp. 110-116
-
-
Olson, T.M.1
Alekseev, A.E.2
Moreau, C.3
Liu, X.K.4
Zingman, L.V.5
Asirvatham, S.J.6
Jahangir, A.7
Terzic, A.8
Miki, T.9
-
10
-
-
77649191092
-
Common variants in KCNN3 are associated with lone atrial fibrillation
-
P.T. Ellinor, K.L. Lunetta, N.L. Glazer Common variants in KCNN3 are associated with lone atrial fibrillation Nat Genet 42 2010 240 244
-
(2010)
Nat Genet
, vol.42
, pp. 240-244
-
-
Ellinor, P.T.1
Lunetta, K.L.2
Glazer, N.L.3
-
11
-
-
33750856807
-
Ionic mechanisms underlying human atrial action potential properties: Insights from a mathematical model
-
M. Courtemanche, R.J. Ramirez, S. Nattel Ionic mechanisms underlying human atrial action potential properties: insights from a mathematical model Am J Physiol 275 1998 H301 H321
-
(1998)
Am J Physiol
, vol.275
-
-
Courtemanche, M.1
Ramirez, R.J.2
Nattel, S.3
-
13
-
-
62649089030
-
Parameter sensitivity analysis in electrophysiological models using multivariable regression
-
E.A. Sobie Parameter sensitivity analysis in electrophysiological models using multivariable regression Biophys J 96 2009 1264 1274
-
(2009)
Biophys J
, vol.96
, pp. 1264-1274
-
-
Sobie, E.A.1
-
14
-
-
2942564430
-
Prediction of post-translational glycosylation and phosphorylation of proteins from the amino acid sequence
-
DOI 10.1002/pmic.200300771
-
N. Blom, T. Sicheritz-Ponten, R. Gupta, S. Gammeltoft, S. Brunak Prediction of post-translational glycosylation and phosphorylation of proteins from the amino acid sequence Proteomics 4 2004 1633 1649 (Pubitemid 38738322)
-
(2004)
Proteomics
, vol.4
, Issue.6
, pp. 1633-1649
-
-
Blom, N.1
Sicheritz-Ponten, T.2
Gupta, R.3
Gammeltoft, S.4
Brunak, So.5
-
15
-
-
0042622251
-
Scansite 2.0: Proteome-wide prediction of cell signalling interactions using short sequence motifs
-
DOI 10.1093/nar/gkg584
-
J.C. Obenauer, L.C. Cantley, M.B. Yaffe Scansite 2.0: proteome-wide prediction of cell signaling interactions using short sequence motifs Nucleic Acids Res 31 2003 3635 3641 (Pubitemid 37442212)
-
(2003)
Nucleic Acids Research
, vol.31
, Issue.13
, pp. 3635-3641
-
-
Obenauer, J.C.1
Cantley, L.C.2
Yaffe, M.B.3
-
16
-
-
22544466166
-
Atrial fibrillation-associated minK38G/S polymorphism modulates delayed rectifier current and membrane localization
-
DOI 10.1016/j.cardiores.2005.03.007, PII S0008636305001379
-
J.R. Ehrlich, S. Zicha, P. Coutu, T.E. Hebert, S. Nattel Atrial fibrillation-associated minK38G/S polymorphism modulates delayed rectifier current and membrane localization Cardiovasc Res 67 2005 520 528 (Pubitemid 41019559)
-
(2005)
Cardiovascular Research
, vol.67
, Issue.3
, pp. 520-528
-
-
Ehrlich, J.R.1
Zicha, S.2
Coutu, P.3
Hebert, T.E.4
Nattel, S.5
-
17
-
-
0038433342
-
A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization
-
DOI 10.1016/S0008-6363(03)00342-0
-
C.R. Bezzina, A.O. Verkerk, A. Busjahn A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization Cardiovasc Res 59 2003 27 36 (Pubitemid 36776370)
-
(2003)
Cardiovascular Research
, vol.59
, Issue.1
, pp. 27-36
-
-
Bezzina, C.R.1
Verkerk, A.O.2
Busjahn, A.3
Jeron, A.4
Erdmann, J.5
Koopmann, T.T.6
Bhuiyan, Z.A.7
Wilders, R.8
Mannens, M.M.A.M.9
Tan, H.L.10
Luft, F.C.11
Schunkert, H.12
Wilde, A.A.M.13
-
18
-
-
2542441586
-
Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels
-
B.D. Anson, M.J. Ackerman, D.J. Tester Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels Am J Physiol Heart Circ Physiol 286 2004 H2434 H2441
-
(2004)
Am J Physiol Heart Circ Physiol
, vol.286
-
-
Anson, B.D.1
Ackerman, M.J.2
Tester, D.J.3
-
19
-
-
55749095403
-
The human ERG1 channel polymorphism, K897T, creates a phosphorylation site that inhibits channel activity
-
S. Gentile, N. Martin, E. Scappini, J. Williams, C. Erxleben, D.L. Armstrong The human ERG1 channel polymorphism, K897T, creates a phosphorylation site that inhibits channel activity Proc Natl Acad Sci 105 2008 14704 14708
-
(2008)
Proc Natl Acad Sci
, vol.105
, pp. 14704-14708
-
-
Gentile, S.1
Martin, N.2
Scappini, E.3
Williams, J.4
Erxleben, C.5
Armstrong, D.L.6
-
20
-
-
33947536318
-
Modulation of KCNQ1 current by atrial fibrillation-associated KCNE4 (145E/D) gene polymorphism
-
K. Ma, N. Li, S. Teng Modulation of KCNQ1 current by atrial fibrillation-associated KCNE4 (145E/D) gene polymorphism Chin Med J 120 2007 150 154 (Pubitemid 46584915)
-
(2007)
Chinese Medical Journal
, vol.120
, Issue.2
, pp. 150-154
-
-
Ma, K.-J.1
Li, N.2
Teng, S.-Y.3
Zhang, Y.-H.4
Sun, Q.5
Gu, D.-F.6
Pu, J.-L.7
-
21
-
-
7444251759
-
Role of a KCNH2 polymorphism (R1047 L) in dofetilide-induced Torsades de Pointes
-
DOI 10.1016/j.yjmcc.2004.09.001, PII S0022282804002718
-
Z. Sun, P.M. Milos, J.F. Thompson Role of a KCNH2 polymorphism (R1047L) in dofetilide-induced torsades de pointes J Mol Cell Cardiol 37 2004 1031 1039 (Pubitemid 39446828)
-
(2004)
Journal of Molecular and Cellular Cardiology
, vol.37
, Issue.5
, pp. 1031-1039
-
-
Sun, Z.1
Milos, P.M.2
Thompson, J.F.3
Lloyd, D.B.4
Mank-Seymour, A.5
Richmond, J.6
Cordes, J.S.7
Zhou, J.8
-
22
-
-
1942534554
-
Compound Mutations: A Common Cause of Severe Long-QT Syndrome
-
DOI 10.1161/01.CIR.0000125524.34234.13
-
P. Westenskow, I. Splawski, K.W. Timothy, M.T. Keating, M.C. Sanguinetti Compound mutations A common cause of severe long-QT syndrome Circulation 109 2004 1834 1841 (Pubitemid 38509116)
-
(2004)
Circulation
, vol.109
, Issue.15
, pp. 1834-1841
-
-
Westenskow, P.1
Splawski, I.2
Timothy, K.W.3
Keating, M.T.4
Sanguinetti, M.C.5
-
24
-
-
33646888423
-
Electrophysiological characterization of three non-synonymous single nucleotide polymorphisms (R87Q, A251T, and P307S) found in hKv1.5
-
DOI 10.1007/s00424-005-0031-8
-
I. Plante, D. Fournier, G. Ricard Electrophysiological characterization of three non-synonymous single nucleotide polymorphisms (R87Q, A251T, and P307S) found in hKv1.5 Pflugers Arch-Eur J Physiol 452 2006 316 323 (Pubitemid 43781340)
-
(2006)
Pflugers Archiv European Journal of Physiology
, vol.452
, Issue.3
, pp. 316-323
-
-
Plante, I.1
Fournier, D.2
Ricard, G.3
Drolet, B.4
O'Hara, G.5
Champagne, J.6
Mathieu, P.7
Baillot, R.8
Daleau, P.9
-
25
-
-
0036190347
-
Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism
-
DOI 10.1096/fj.01-0520hyp
-
G.W. Abbott, S.A.N. Goldstein Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism FASEB J 16 2002 390 400 (Pubitemid 34195300)
-
(2002)
FASEB Journal
, vol.16
, Issue.3
, pp. 390-400
-
-
Abbott, G.W.1
Goldstein, S.A.N.2
-
26
-
-
33744976320
-
Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients
-
DOI 10.1080/07853890600756065, PII W2256427836366
-
H. Fodstad, S. Bendahhou, J.-S. Rougier Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients Ann Med 38 2006 294 304 (Pubitemid 43862332)
-
(2006)
Annals of Medicine
, vol.38
, Issue.4
, pp. 294-304
-
-
Fodstad, H.1
Bendahhou, S.2
Rougier, J.3
Laitinen-Forsblom, P.J.4
Barhanin, J.5
Abriel, H.6
Schild, L.7
Kontula, K.8
Swan, H.9
-
27
-
-
33846624653
-
Stretch-Sensitive KCNQ1 Mutation. A Link Between Genetic and Environmental Factors in the Pathogenesis of Atrial Fibrillation?
-
DOI 10.1016/j.jacc.2006.09.044, PII S0735109706028646
-
R. Otway, J.I. Vandenberg, G. Guo Stretch-sensitive KCNQ1 mutation A link between genetic and environmental factors in the pathogenesis of atrial fibrillation? J Am Coll Cardiol 49 2007 578 586 (Pubitemid 46177442)
-
(2007)
Journal of the American College of Cardiology
, vol.49
, Issue.5
, pp. 578-586
-
-
Otway, R.1
Vandenberg, J.I.2
Guo, G.3
Varghese, A.4
Castro, M.L.5
Liu, J.6
Zhao, J.7
Bursill, J.A.8
Wyse, K.R.9
Crotty, H.10
Baddeley, O.11
Walker, B.12
Kuchar, D.13
Thorburn, C.14
Fatkin, D.15
-
28
-
-
0032494146
-
Ionic mechanisms of regional action potential heterogeneity in the canine right atrium
-
J. Feng, L. Yue, Z. Wang, S. Nattel Ionic mechanisms of regional action potential heterogeneity in the canine right atrium Circ Res 83 1998 541 551 (Pubitemid 28411056)
-
(1998)
Circulation Research
, vol.83
, Issue.5
, pp. 541-551
-
-
Feng, J.1
Yue, L.2
Wang, Z.3
Nattel, S.4
-
29
-
-
0041429650
-
+ channel accessory subunits: MinK, MiRPs, KChIP, and KChAP
-
DOI 10.1007/s00232-003-2034-8
-
+ accessory subunits: MinK, MiRPs, KChIP, and KChAP J Membr Biol 194 2003 141 152 (Pubitemid 37013807)
-
(2003)
Journal of Membrane Biology
, vol.194
, Issue.3
, pp. 141-152
-
-
Pourrier, M.1
Schram, G.2
Nattel, S.3
-
30
-
-
10344258576
-
Mutations in the long QT gene, KCMQ1, are an uncommon cause of atrial fibrillation
-
DOI 10.1136/hrt.2003.027227
-
P.T. Ellinor, R.K. Moore, K.K. Patton, J.N. Ruskin, M.R. Pollak, C.A. MacRae Mutations in the long QT gene, KCNQ1, are an uncommon cause of atrial fibrillation Heart 90 2004 1487 1488 (Pubitemid 39626338)
-
(2004)
Heart
, vol.90
, Issue.12
, pp. 1487-1488
-
-
Ellinor, P.T.1
Moore, R.K.2
Patton, K.K.3
Ruskin, J.N.4
Pollak, M.R.5
MacRae, C.A.6
-
31
-
-
80052300820
-
Striking in vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro
-
H. Watanabe, T. Yang, D.M. Stroud Striking in vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro Circulation 124 2011 1001 1011
-
(2011)
Circulation
, vol.124
, pp. 1001-1011
-
-
Watanabe, H.1
Yang, T.2
Stroud, D.M.3
-
32
-
-
77952990832
-
Alterations of atrial electrophysiology induced by electrolyte variations: Combined computational and P-wave analysis
-
S. Severi, D. Pogliani, G. Fantini Alterations of atrial electrophysiology induced by electrolyte variations: combined computational and P-wave analysis Europace 12 2010 842 849
-
(2010)
Europace
, vol.12
, pp. 842-849
-
-
Severi, S.1
Pogliani, D.2
Fantini, G.3
-
33
-
-
61849087803
-
Simulating the effects of atrial fibrillation induced electrical remodelling: A comprehensive simulation study
-
S. Kharche, H. Zhang Simulating the effects of atrial fibrillation induced electrical remodelling: a comprehensive simulation study Conf Proc IEEE Eng Med Biol Soc 2008 2008 593 596
-
(2008)
Conf Proc IEEE Eng Med Biol Soc
, vol.2008
, pp. 593-596
-
-
Kharche, S.1
Zhang, H.2
|