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Volumn 127, Issue 9, 2013, Pages 1009-1017

Calmodulin mutations associated with recurrent cardiac arrest in infants

(23)  Crotti, Lia a,b,c   Johnson, Christopher N d   Graf, Elisabeth c   De Ferrari, Gaetano M a,b   Cuneo, Bettina F d,h,i   Ovadia, Marc i,j   Papagiannis, John k   Feldkamp, Michael D d   Rathi, Subodh G d   Kunic, Jennifer D d   Pedrazzini, Matteo b   Wieland, Thomas c   Lichtner, Peter c   Beckmann, Britt Maria l   Clark, Travis e   Shaffer, Christian f   Benson, D Woodrow m,r   Kääb, Stefan l,n   Meitinger, Thomas c,n,o   Strom, Tim M c,o   more..


Author keywords

arrhythmia; calcium signaling; death, sudden, cardiac; exome

Indexed keywords

CALCIUM; CALCIUM BINDING PROTEIN; CALMODULIN; CALMODULIN 1; CALMODULIN 2; MEXILETINE; PROPRANOLOL; UNCLASSIFIED DRUG;

EID: 84874664698     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.112.001216     Document Type: Article
Times cited : (307)

References (41)
  • 2
    • 84859427225 scopus 로고    scopus 로고
    • 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
  • 8
    • 43449097536 scopus 로고    scopus 로고
    • 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
  • 11
    • 67649884743 scopus 로고    scopus 로고
    • 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
  • 13
    • 22244452677 scopus 로고    scopus 로고
    • 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
  • 15
    • 0043122919 scopus 로고    scopus 로고
    • 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
  • 21
    • 0031938735 scopus 로고    scopus 로고
    • 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
  • 23
    • 0036841137 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 25
  • 26
    • 33846894117 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 37
    • 33644870160 scopus 로고    scopus 로고
    • 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
  • 40
    • 33846888199 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.