-
1
-
-
3042611768
-
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome
-
Miller TE, Estrella E, Myerburg RJ, Garcia de Viera J, Moreno N, Rusconi P, Ahearn ME, Baumbach L, Kurlansky P, Wolff G, Bishopric NH. Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. Circulation. 2004;109:3029-3034.
-
(2004)
Circulation
, vol.109
, pp. 3029-3034
-
-
Miller, T.E.1
Estrella, E.2
Myerburg, R.J.3
Garcia De Viera, J.4
Moreno, N.5
Rusconi, P.6
Ahearn, M.E.7
Baumbach, L.8
Kurlansky, P.9
Wolff, G.10
Bishopric, N.H.11
-
2
-
-
84859427225
-
Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia
-
Murphy LL, Moon-Grady AJ, Cuneo BF, Wakai RT, Yu S, Kunic JD, Benson DW, George AL Jr. Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia. Heart Rhythm. 2012;9:590-597.
-
(2012)
Heart Rhythm
, vol.9
, pp. 590-597
-
-
Murphy, L.L.1
Moon-Grady, A.J.2
Cuneo, B.F.3
Wakai, R.T.4
Yu, S.5
Kunic, J.D.6
Benson, D.W.7
George Jr., A.L.8
-
3
-
-
0034721235
-
A molecular link between the sudden infant death syndrome and the long-QT syndrome
-
Schwartz PJ, Priori SG, Dumaine R, Napolitano C, Antzelevitch C, Stramba-Badiale M, Richard TA, Berti MR, Bloise R. A molecular link between the sudden infant death syndrome and the long-QT syndrome. N Engl J Med. 2000;343:262-267.
-
(2000)
N Engl J Med
, vol.343
, pp. 262-267
-
-
Schwartz, P.J.1
Priori, S.G.2
Dumaine, R.3
Napolitano, C.4
Antzelevitch, C.5
Stramba-Badiale, M.6
Richard, T.A.7
Berti, M.R.8
Bloise, R.9
-
4
-
-
0035860984
-
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome
-
Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 2001;286:2264-2269.
-
(2001)
JAMA
, vol.286
, pp. 2264-2269
-
-
Ackerman, M.J.1
Siu, B.L.2
Sturner, W.Q.3
Tester, D.J.4
Valdivia, C.R.5
Makielski, J.C.6
Towbin, J.A.7
-
5
-
-
33846425740
-
Cardiac sodium channel dysfunction in sudden infant death syndrome
-
Wang DW, Desai RR, Crotti L, Arnestad M, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Rognum T, Schwartz PJ, George AL Jr. Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation. 2007;115:368-376.
-
(2007)
Circulation
, vol.115
, pp. 368-376
-
-
Wang, D.W.1
Desai, R.R.2
Crotti, L.3
Arnestad, M.4
Insolia, R.5
Pedrazzini, M.6
Ferrandi, C.7
Vege, A.8
Rognum, T.9
Schwartz, P.J.10
George Jr., A.L.11
-
6
-
-
33846046495
-
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome
-
Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Wang DW, Rhodes TE, George AL Jr, Schwartz PJ. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007;115:361-367.
-
(2007)
Circulation
, vol.115
, pp. 361-367
-
-
Arnestad, M.1
Crotti, L.2
Rognum, T.O.3
Insolia, R.4
Pedrazzini, M.5
Ferrandi, C.6
Vege, A.7
Wang, D.W.8
Rhodes, T.E.9
George Jr., A.L.10
Schwartz, P.J.11
-
7
-
-
70350506309
-
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel
-
Wang DW, Crotti L, Shimizu W, Pedrazzini M, Cantu F, De Filippo P, Kishiki K, Miyazaki A, Ikeda T, Schwartz PJ, George AL Jr. Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel. Circ Arrhythm Electrophysiol. 2008;1:370-378.
-
(2008)
Circ Arrhythm Electrophysiol
, vol.1
, pp. 370-378
-
-
Wang, D.W.1
Crotti, L.2
Shimizu, W.3
Pedrazzini, M.4
Cantu, F.5
De Filippo, P.6
Kishiki, K.7
Miyazaki, A.8
Ikeda, T.9
Schwartz, P.J.10
George Jr., A.L.11
-
8
-
-
43449097536
-
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response
-
Bankston JR, Yue M, Chung W, Spyres M, Pass RH, Silver E, Sampson KJ, Kass RS. A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response. PLoS ONE. 2007;2:e1258.
-
(2007)
PLoS ONE
, vol.2
-
-
Bankston, J.R.1
Yue, M.2
Chung, W.3
Spyres, M.4
Pass, R.H.5
Silver, E.6
Sampson, K.J.7
Kass, R.S.8
-
9
-
-
0035922697
-
Molecular diagnosis in a child with sudden infant death syndrome
-
Schwartz PJ, Priori SG, Bloise R, Napolitano C, Ronchetti E, Piccinini A, Goj C, Breithardt G, Schulze-Bahr E, Wedekind H, Nastoli J. Molecular diagnosis in a child with sudden infant death syndrome. Lancet. 2001;358:1342-1343.
-
(2001)
Lancet
, vol.358
, pp. 1342-1343
-
-
Schwartz, P.J.1
Priori, S.G.2
Bloise, R.3
Napolitano, C.4
Ronchetti, E.5
Piccinini, A.6
Goj, C.7
Breithardt, G.8
Schulze-Bahr, E.9
Wedekind, H.10
Nastoli, J.11
-
11
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
12
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297-1303.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
Depristo, M.A.11
-
13
-
-
22244452677
-
NISC Comparative Sequencing Program. Distribution and intensity of constraint in mammalian genomic sequence
-
Cooper GM, Stone EA, Asimenos G, Green ED, Batzoglou S, Sidow A; NISC Comparative Sequencing Program. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 2005;15:901-913.
-
(2005)
Genome Res
, vol.15
, pp. 901-913
-
-
Cooper, G.M.1
Stone, E.A.2
Asimenos, G.3
Green, E.D.4
Batzoglou, S.5
Sidow, A.6
-
14
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
15
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31:3812-3814.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
17
-
-
78649484216
-
A de novo paradigm for mental retardation
-
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. A de novo paradigm for mental retardation. Nat Genet. 2010;42:1109-1112.
-
(2010)
Nat Genet
, vol.42
, pp. 1109-1112
-
-
Vissers, L.E.1
De Ligt, J.2
Gilissen, C.3
Janssen, I.4
Steehouwer, M.5
De Vries, P.6
Van Lier, B.7
Arts, P.8
Wieskamp, N.9
Del Rosario, M.10
Van Bon, B.W.11
Hoischen, A.12
De Vries, B.B.13
Brunner, H.G.14
Veltman, J.A.15
-
18
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet. 2011;43:585-589.
-
(2011)
Nat Genet.
, vol.43
, pp. 585-589
-
-
O'Roak, B.J.1
Deriziotis, P.2
Lee, C.3
Vives, L.4
Schwartz, J.J.5
Girirajan, S.6
Karakoc, E.7
MacKenzie, A.P.8
Ng, S.B.9
Baker, C.10
Rieder, M.J.11
Nickerson, D.A.12
Bernier, R.13
Fisher, S.E.14
Shendure, J.15
Eichler, E.E.16
-
19
-
-
0023811919
-
Multiple divergent mRNAs code for a single human calmodulin
-
Fischer R, Koller M, Flura M, Mathews S, Strehler-Page MA, Krebs J, Penniston JT, Carafoli E, Strehler EE. Multiple divergent mRNAs code for a single human calmodulin. J Biol Chem. 1988;263:17055-17062.
-
(1988)
J Biol Chem
, vol.263
, pp. 17055-17062
-
-
Fischer, R.1
Koller, M.2
Flura, M.3
Mathews, S.4
Strehler-Page, M.A.5
Krebs, J.6
Penniston, J.T.7
Carafoli, E.8
Strehler, E.E.9
-
21
-
-
0031938735
-
An interaction-based analysis of calciuminduced conformational changes in Ca2+ sensor proteins
-
Nelson MR, Chazin WJ. An interaction-based analysis of calciuminduced conformational changes in Ca2+ sensor proteins. Protein Sci. 1998;7:270-282.
-
(1998)
Protein Sci
, vol.7
, pp. 270-282
-
-
Nelson, M.R.1
Chazin, W.J.2
-
22
-
-
2442651669
-
Designing sequence to control protein function in an EF-hand protein
-
Bunick CG, Nelson MR, Mangahas S, Hunter MJ, Sheehan JH, Mizoue LS, Bunick GJ, Chazin WJ. Designing sequence to control protein function in an EF-hand protein. J Am Chem Soc. 2004;126:5990-5998.
-
(2004)
J Am Chem Soc
, vol.126
, pp. 5990-5998
-
-
Bunick, C.G.1
Nelson, M.R.2
Mangahas, S.3
Hunter, M.J.4
Sheehan, J.H.5
Mizoue, L.S.6
Bunick, G.J.7
Chazin, W.J.8
-
23
-
-
0036841137
-
Calcium binding to calmodulin mutants monitored by domainspecific intrinsic phenylalanine and tyrosine fluorescence
-
VanScyoc WS, Sorensen BR, Rusinova E, Laws WR, Ross JB, Shea MA. Calcium binding to calmodulin mutants monitored by domainspecific intrinsic phenylalanine and tyrosine fluorescence. Biophys J. 2002;83:2767-2780.
-
(2002)
Biophys J
, vol.83
, pp. 2767-2780
-
-
Vanscyoc, W.S.1
Sorensen, B.R.2
Rusinova, E.3
Laws, W.R.4
Ross, J.B.5
Shea, M.A.6
-
24
-
-
0034256090
-
Calmodulin: A prototypical calcium sensor
-
Chin D, Means AR. Calmodulin: a prototypical calcium sensor. Trends Cell Biol. 2000;10:322-328.
-
(2000)
Trends Cell Biol
, vol.10
, pp. 322-328
-
-
Chin, D.1
Means, A.R.2
-
26
-
-
33846894117
-
Calmodulin and Ca2+/calmodulin kinases in the heart: Physiology and pathophysiology
-
Maier LS, Bers DM, Brown JH. Calmodulin and Ca2+/calmodulin kinases in the heart: physiology and pathophysiology. Cardiovasc Res. 2007;73:629-630.
-
(2007)
Cardiovasc Res
, vol.73
, pp. 629-630
-
-
Maier, L.S.1
Bers, D.M.2
Brown, J.H.3
-
27
-
-
33847103184
-
Neuronal calcium sensor proteins: Generating diversity in neuronal Ca2+ signalling
-
Burgoyne RD. Neuronal calcium sensor proteins: generating diversity in neuronal Ca2+ signalling. Nat Rev Neurosci. 2007;8:182-193.
-
(2007)
Nat Rev Neurosci
, vol.8
, pp. 182-193
-
-
Burgoyne, R.D.1
-
28
-
-
0029160568
-
Calcium-induced conformational transition revealed by the solution structure of apo calmodulin
-
Zhang M, Tanaka T, Ikura M. Calcium-induced conformational transition revealed by the solution structure of apo calmodulin. Nat Struct Biol. 1995;2:758-767.
-
(1995)
Nat Struct Biol
, vol.2
, pp. 758-767
-
-
Zhang, M.1
Tanaka, T.2
Ikura, M.3
-
29
-
-
29944442726
-
National Registry of Cardiopulmonary Resuscitation Investigators. First documented rhythm and clinical outcome from in-hospital cardiac arrest among children and adults
-
Nadkarni VM, Larkin GL, Peberdy MA, Carey SM, Kaye W, Mancini ME, Nichol G, Lane-Truitt T, Potts J, Ornato JP, Berg RA; National Registry of Cardiopulmonary Resuscitation Investigators. First documented rhythm and clinical outcome from in-hospital cardiac arrest among children and adults. JAMA. 2006;295:50-57.
-
(2006)
JAMA
, vol.295
, pp. 50-57
-
-
Nadkarni, V.M.1
Larkin, G.L.2
Peberdy, M.A.3
Carey, S.M.4
Kaye, W.5
Mancini, M.E.6
Nichol, G.7
Lane-Truitt, T.8
Potts, J.9
Ornato, J.P.10
Berg, R.A.11
-
30
-
-
81855161548
-
-
American Heart Association's Get With The Guidelines-Resuscitation Investigators. Outcomes after in-hospital cardiac arrest in children with cardiac disease: a report from Get With The Guidelines-Resuscitation
-
Ortmann L, Prodhan P, Gossett J, Schexnayder S, Berg R, Nadkarni V, Bhutta A; American Heart Association's Get With The Guidelines-Resuscitation Investigators. Outcomes after in-hospital cardiac arrest in children with cardiac disease: a report from Get With The Guidelines-Resuscitation. Circulation. 2011;124:2329-2337.
-
(2011)
Circulation
, vol.124
, pp. 2329-2337
-
-
Ortmann, L.1
Prodhan, P.2
Gossett, J.3
Schexnayder, S.4
Berg, R.5
Nadkarni, V.6
Bhutta, A.7
-
31
-
-
0345465665
-
Calmodulin supports both inactivation and facilitation of L-type calcium channels
-
Zühlke RD, Pitt GS, Deisseroth K, Tsien RW, Reuter H. Calmodulin supports both inactivation and facilitation of L-type calcium channels. Nature. 1999;399:159-162.
-
(1999)
Nature
, vol.399
, pp. 159-162
-
-
Zühlke, R.D.1
Pitt, G.S.2
Deisseroth, K.3
Tsien, R.W.4
Reuter, H.5
-
32
-
-
0033084193
-
Calmodulin is the Ca2+ sensor for Ca2+-dependent inactivation of L-type calcium channels
-
Peterson BZ, DeMaria CD, Adelman JP, Yue DT. Calmodulin is the Ca2+ sensor for Ca2+-dependent inactivation of L-type calcium channels. Neuron. 1999;22:549-558.
-
(1999)
Neuron
, vol.22
, pp. 549-558
-
-
Peterson, B.Z.1
Demaria, C.D.2
Adelman, J.P.3
Yue, D.T.4
-
33
-
-
0037168561
-
Engineered calmodulins reveal the unexpected eminence of Ca2+ channel inactivation in controlling heart excitation
-
Alseikhan BA, DeMaria CD, Colecraft HM, Yue DT. Engineered calmodulins reveal the unexpected eminence of Ca2+ channel inactivation in controlling heart excitation. Proc Natl Acad Sci USA. 2002;99:17185-17190.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 17185-17190
-
-
Alseikhan, B.A.1
Demaria, C.D.2
Colecraft, H.M.3
Yue, D.T.4
-
34
-
-
33646810883
-
Calmodulin is essential for cardiac IKS channel gating and assembly: Impaired function in long-QT mutations
-
Shamgar L, Ma L, Schmitt N, Haitin Y, Peretz A, Wiener R, Hirsch J, Pongs O, Attali B. Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. Circ Res. 2006;98:1055-1063.
-
(2006)
Circ Res
, vol.98
, pp. 1055-1063
-
-
Shamgar, L.1
Ma, L.2
Schmitt, N.3
Haitin, Y.4
Peretz, A.5
Wiener, R.6
Hirsch, J.7
Pongs, O.8
Attali, B.9
-
35
-
-
79953005352
-
KCNE4 juxtamembrane region is required for interaction with calmodulin and for functional suppression of KCNQ1
-
Ciampa EJ, Welch RC, Vanoye CG, George AL Jr. KCNE4 juxtamembrane region is required for interaction with calmodulin and for functional suppression of KCNQ1. J Biol Chem. 2011;286:4141-4149.
-
(2011)
J Biol Chem
, vol.286
, pp. 4141-4149
-
-
Ciampa, E.J.1
Welch, R.C.2
Vanoye, C.G.3
George Jr., A.L.4
-
36
-
-
7244254394
-
Calmodulin mediates Ca2+ sensitivity of sodium channels
-
Kim J, Ghosh S, Liu H, Tateyama M, Kass RS, Pitt GS. Calmodulin mediates Ca2+ sensitivity of sodium channels. J Biol Chem. 2004;279:45004-45012.
-
(2004)
J Biol Chem
, vol.279
, pp. 45004-45012
-
-
Kim, J.1
Ghosh, S.2
Liu, H.3
Tateyama, M.4
Kass, R.S.5
Pitt, G.S.6
-
37
-
-
33644870160
-
Calcium-dependent regulation of the voltage-gated sodium channel hH1: Intrinsic and extrinsic sensors use a common molecular switch
-
Shah VN, Wingo TL, Weiss KL, Williams CK, Balser JR, Chazin WJ. Calcium-dependent regulation of the voltage-gated sodium channel hH1: intrinsic and extrinsic sensors use a common molecular switch. Proc Natl Acad Sci USA. 2006;103:3592-3597.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 3592-3597
-
-
Shah, V.N.1
Wingo, T.L.2
Weiss, K.L.3
Williams, C.K.4
Balser, J.R.5
Chazin, W.J.6
-
38
-
-
67649778677
-
Functional Interactions between distinct sodium channel cytoplasmic domains through the action of calmodulin
-
Potet F, Chagot B, Anghelescu M, Viswanathan PC, Stepanovic SZ, Kupershmidt S, Chazin WJ, Balser JR. Functional Interactions between distinct sodium channel cytoplasmic domains through the action of calmodulin. J Biol Chem. 2009;284:8846-8854.
-
(2009)
J Biol Chem
, vol.284
, pp. 8846-8854
-
-
Potet, F.1
Chagot, B.2
Anghelescu, M.3
Viswanathan, P.C.4
Stepanovic, S.Z.5
Kupershmidt, S.6
Chazin, W.J.7
Balser, J.R.8
-
40
-
-
33846888199
-
Multiple downstream proarrhythmic targets for calmodulin kinase II: Moving beyond an ion channel-centric focus
-
Anderson ME. Multiple downstream proarrhythmic targets for calmodulin kinase II: moving beyond an ion channel-centric focus. Cardiovasc Res. 2007;73:657-666.
-
(2007)
Cardiovasc Res
, vol.73
, pp. 657-666
-
-
Anderson, M.E.1
-
41
-
-
84867242998
-
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death
-
Nyegaard M, Overgaard MT, Søndergaard MT, Vranas M, Behr ER, Hildebrandt LL, Lund J, Hedley PL, Camm AJ, Wettrell G, Fosdal I, Christiansen M, Børglum AD. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. Am J Hum Genet. 2012;91: 703-712.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 703-712
-
-
Nyegaard, M.1
Overgaard, M.T.2
Søndergaard, M.T.3
Vranas, M.4
Behr, E.R.5
Hildebrandt, L.L.6
Lund, J.7
Hedley, P.L.8
Camm, A.J.9
Wettrell, G.10
Fosdal, I.11
Christiansen, M.12
Børglum, A.D.13
|