메뉴 건너뛰기




Volumn 7, Issue 4, 2014, Pages 466-474

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

(39)  Makita, Naomasa a   Yagihara, Nobue c   Crotti, Lia c   Johnson, Christopher N c   Beckmann, Britt Maria c   Roh, Michelle S c   Shigemizu, Daichi c   Lichtner, Peter c   Ishikawa, Taisuke c   Aiba, Takeshi c   Homfray, Tessa c   Behr, Elijah R c   Klug, Didier c   Denjoy, Isabelle c   Mastantuono, Elisa c   Theisen, Daniel c   Tsunoda, Tatsuhiko c   Satake, Wataru c   Toda, Tatsushi c   Nakagawa, Hidewaki c   more..

c NONE

Author keywords

Calmodulin; Long QT syndrome

Indexed keywords

ADRENALIN; ATENOLOL; CALCIUM; CALMODULIN; CALMODULIN 1; CALMODULIN 2; METOPROLOL; MEXILETINE; NADOLOL; PINDOLOL; PROPRANOLOL; UNCLASSIFIED DRUG; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALM2 PROTEIN, HUMAN; PROTEIN BINDING;

EID: 84921064355     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.113.000459     Document Type: Article
Times cited : (159)

References (43)
  • 2
    • 0028861892 scopus 로고
    • ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome
    • Moss AJ, Zareba W, Benhorin J, Locati EH, Hall WJ, Robinson JL, et al. ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation. 1995;92:2929-2934
    • (1995) Circulation. , vol.92 , pp. 2929-2934
    • Moss, A.J.1    Zareba, W.2    Benhorin, J.3    Locati, E.H.4    Hall, W.J.5    Robinson, J.L.6
  • 3
    • 0034610404 scopus 로고    scopus 로고
    • Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes
    • Zhang L, Timothy KW, Vincent GM, Lehmann MH, Fox J, Giuli LC, et al. Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation. 2000;102:2849-2855
    • (2000) Circulation. , vol.102 , pp. 2849-2855
    • Zhang, L.1    Timothy, K.W.2    Vincent, G.M.3    Lehmann, M.H.4    Fox, J.5    Giuli, L.C.6
  • 4
    • 0035830365 scopus 로고    scopus 로고
    • 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, et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 2001;103:89-95
    • (2001) Circulation. , vol.103 , pp. 89-95
    • Schwartz, P.J.1    Priori, S.G.2    Spazzolini, C.3    Moss, A.J.4    Vincent, G.M.5    Napolitano, C.6
  • 5
    • 0032189139 scopus 로고    scopus 로고
    • Influence of genotype on the clinical course of the long-QT syndrome
    • International Long-QT Syndrome Registry Research Group
    • Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Robinson JL, Priori SG, et al. Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. N Engl J Med. 1998;339:960-965
    • (1998) N Engl J Med. , vol.339 , pp. 960-965
    • Zareba, W.1    Moss, A.J.2    Schwartz, P.J.3    Vincent, G.M.4    Robinson, J.L.5    Priori, S.G.6
  • 6
    • 0037454077 scopus 로고    scopus 로고
    • Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome
    • Shimizu W, Noda T, Takaki H, Kurita T, Nagaya N, Satomi K, et al. Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome. J Am Coll Cardiol. 2003;41:633-642
    • (2003) J Am Coll Cardiol. , vol.41 , pp. 633-642
    • Shimizu, W.1    Noda, T.2    Takaki, H.3    Kurita, T.4    Nagaya, N.5    Satomi, K.6
  • 7
    • 9244245287 scopus 로고    scopus 로고
    • Diagnostic value of epinephrine test for genotyping LQT1 LQT2 and LQT3 forms of congenital long QT syndrome
    • Shimizu W, Noda T, Takaki H, Nagaya N, Satomi K, Kurita T, et al. Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome. Heart Rhythm. 2004;1:276-283
    • (2004) Heart Rhythm. , vol.1 , pp. 276-283
    • Shimizu, W.1    Noda, T.2    Takaki, H.3    Nagaya, N.4    Satomi, K.5    Kurita, T.6
  • 8
    • 0028874658 scopus 로고
    • Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy
    • Schwartz PJ, Priori SG, Locati EH, Napolitano C, Cantù F, Towbin JA, et al. Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation. 1995;92:3381-3386
    • (1995) Circulation. , vol.92 , pp. 3381-3386
    • Schwartz, P.J.1    Priori, S.G.2    Locati, E.H.3    Napolitano, C.4    Cantù, F.5    Towbin, J.A.6
  • 9
    • 59849102447 scopus 로고    scopus 로고
    • High efficacy of beta-blockers in long-QT syndrome type 1: Contribution of noncompliance and QT-prolonging drugs to the occurrence of betablocker treatment "failures
    • Vincent GM, Schwartz PJ, Denjoy I, Swan H, Bithell C, Spazzolini C, et al. High efficacy of beta-blockers in long-QT syndrome type 1: contribution of noncompliance and QT-prolonging drugs to the occurrence of betablocker treatment "failures". Circulation. 2009;119:215-221
    • (2009) Circulation. , vol.119 , pp. 215-221
    • Vincent, G.M.1    Schwartz, P.J.2    Denjoy, I.3    Swan, H.4    Bithell, C.5    Spazzolini, C.6
  • 10
    • 18844390428 scopus 로고    scopus 로고
    • Specific therapy based on the genotype and cellular mechanism in inherited cardiac arrhythmias. Long QT syndrome and Brugada syndrome
    • Shimizu W, Aiba T, Antzelevitch C. Specific therapy based on the genotype and cellular mechanism in inherited cardiac arrhythmias. Long QT syndrome and Brugada syndrome. Curr Pharm Des. 2005;11:1561-1572
    • (2005) Curr Pharm Des. , vol.11 , pp. 1561-1572
    • Shimizu, W.1    Aiba, T.2    Antzelevitch, C.3
  • 11
    • 84880064816 scopus 로고    scopus 로고
    • The long QT syndrome: A transatlantic clinical approach to diagnosis and therapy
    • Schwartz PJ, Ackerman MJ. The long QT syndrome: A transatlantic clinical approach to diagnosis and therapy. Eur Heart J. 2013;34:3109-3116
    • (2013) Eur Heart J. , vol.34 , pp. 3109-3116
    • Schwartz, P.J.1    Ackerman, M.J.2
  • 15
    • 84892407727 scopus 로고    scopus 로고
    • A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence
    • Marsman RF, Barc J, Beekman L, Alders M, Dooijes D, van den Wijngaard A, et al. A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. J Am Coll Cardiol. 2014;63:259-266
    • (2014) J Am Coll Cardiol. , vol.63 , pp. 259-266
    • Marsman, R.F.1    Barc, J.2    Beekman, L.3    Alders, M.4    Dooijes, D.5    Van Den Wijngaard, A.6
  • 16
    • 84873828284 scopus 로고    scopus 로고
    • Molecular and genetic basis of sudden cardiac death
    • George AL Jr. Molecular and genetic basis of sudden cardiac death. J Clin Invest. 2013;123:75-83
    • (2013) J Clin Invest. , vol.123 , pp. 75-83
    • George, Jr.A.L.1
  • 17
    • 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
  • 18
    • 68549104404 scopus 로고    scopus 로고
    • 1000 genome project data processing subgroup. The sequence alignment/Map format and samtools
    • Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al; 1000 Genome Project Data Processing Subgroup. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009;25:2078-2079
    • (2009) Bioinformatics. , vol.25 , pp. 2078-2079
    • Li, H.1    Handsaker, B.2    Wysoker, A.3    Fennell, T.4    Ruan, J.5    Homer, N.6
  • 19
    • 78049321495 scopus 로고    scopus 로고
    • Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing
    • Fujimoto A, Nakagawa H, Hosono N, Nakano K, Abe T, Boroevich KA, et al. Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing. Nat Genet. 2010;42:931-936
    • (2010) Nat Genet. , vol.42 , pp. 931-936
    • Fujimoto, A.1    Nakagawa, H.2    Hosono, N.3    Nakano, K.4    Abe, T.5    Boroevich, K.A.6
  • 20
    • 84862976633 scopus 로고    scopus 로고
    • Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators
    • Fujimoto A, Totoki Y, Abe T, Boroevich KA, Hosoda F, Nguyen HH, et al. Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. Nat Genet. 2012;44:760-764
    • (2012) Nat Genet. , vol.44 , pp. 760-764
    • Fujimoto, A.1    Totoki, Y.2    Abe, T.3    Boroevich, K.A.4    Hosoda, F.5    Nguyen, H.H.6
  • 21
    • 84880319487 scopus 로고    scopus 로고
    • A practical method to detect SNVs and indels from whole genome and exome sequencing data
    • Shigemizu D, Fujimoto A, Akiyama S, Abe T, Nakano K, Boroevich KA, et al. A practical method to detect SNVs and indels from whole genome and exome sequencing data. Sci Rep. 2013;3:2161
    • (2013) Sci Rep. , vol.3 , pp. 2161
    • Shigemizu, D.1    Fujimoto, A.2    Akiyama, S.3    Abe, T.4    Nakano, K.5    Boroevich, K.A.6
  • 22
    • 77956295988 scopus 로고    scopus 로고
    • 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, et al. 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
  • 24
    • 84872143942 scopus 로고    scopus 로고
    • NHLBI Exome Sequencing Project. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
    • Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, et al; NHLBI Exome Sequencing Project. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature. 2013;493:216-220
    • (2013) Nature. , vol.493 , pp. 216-220
    • Fu, W.1    O'Connor, T.D.2    Jun, G.3    Kang, H.M.4    Abecasis, G.5    Leal, S.M.6
  • 25
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575-576
    • (2010) Nat Methods. , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rödelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 27
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073-1081
    • (2009) Nat Protoc. , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 28
    • 0029917965 scopus 로고    scopus 로고
    • Calcium-induced interactions of calmodulin domains revealed by quantitative thrombin footprinting of Arg37 and Arg106
    • Shea MA, Verhoeven AS, Pedigo S. Calcium-induced interactions of calmodulin domains revealed by quantitative thrombin footprinting of Arg37 and Arg106. Biochemistry. 1996;35:2943-2957
    • (1996) Biochemistry. , vol.35 , pp. 2943-2957
    • Shea, M.A.1    Verhoeven, A.S.2    Pedigo, S.3
  • 29
    • 0036841137 scopus 로고    scopus 로고
    • Calcium binding to calmodulin mutants monitored by domain-specific intrinsic phenylalanine and tyrosine fluorescence
    • VanScyoc WS, Sorensen BR, Rusinova E, Laws WR, Ross JB, Shea MA. Calcium binding to calmodulin mutants monitored by domain-specific intrinsic phenylalanine and tyrosine fluorescence. Biophys J. 2002;83:2767-2780
    • (2002) Biophys J. , vol.83 , pp. 2767-2780
    • Van Scyoc, W.S.1    Sorensen, B.R.2    Rusinova, E.3    Laws, W.R.4    Ross, J.B.5    Shea, M.A.6
  • 30
    • 0000434191 scopus 로고    scopus 로고
    • Interactions between domains of apo calmodulin alter calcium binding and stability
    • Sorensen BR, Shea MA. Interactions between domains of apo calmodulin alter calcium binding and stability. Biochemistry. 1998;37:4244-4253
    • (1998) Biochemistry. , vol.37 , pp. 4244-4253
    • Sorensen, B.R.1    Shea, M.A.2
  • 31
    • 0034854501 scopus 로고    scopus 로고
    • Phenylalanine fluorescence studies of calcium binding to N-domain fragments of Paramecium calmodulin mutants show increased calcium affinity correlates with increased disorder
    • VanScyoc WS, Shea MA. Phenylalanine fluorescence studies of calcium binding to N-domain fragments of Paramecium calmodulin mutants show increased calcium affinity correlates with increased disorder. Protein Sci. 2001;10:1758-1768
    • (2001) Protein Sci. , vol.10 , pp. 1758-1768
    • Van Scyoc, W.S.1    Shea, M.A.2
  • 35
    • 0030989059 scopus 로고    scopus 로고
    • Conservative D133E mutation of calmodulin site IV drastically alters calcium binding and phosphodiesterase regulation
    • Wu X, Reid RE. Conservative D133E mutation of calmodulin site IV drastically alters calcium binding and phosphodiesterase regulation. Biochemistry. 1997;36:3608-3616
    • (1997) Biochemistry. , vol.36 , pp. 3608-3616
    • Wu, X.1    Reid, R.E.2
  • 36
    • 0024396312 scopus 로고
    • Crystal structures of the helix-loop-helix calcium-binding proteins
    • Strynadka NC, James MN. Crystal structures of the helix-loop-helix calcium-binding proteins. Annu Rev Biochem. 1989;58:951-998
    • (1989) Annu Rev Biochem. , vol.58 , pp. 951-998
    • Strynadka, N.C.1    James, M.N.2
  • 40
    • 84897479708 scopus 로고    scopus 로고
    • Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants
    • Hwang HS, Nitu FR, Yang Y, Walweel K, Pereira L, Johnson CN, et al. Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. Circ Res. 2014;114:1114-1124
    • (2014) Circ Res. , vol.114 , pp. 1114-1124
    • Hwang, H.S.1    Nitu, F.R.2    Yang, Y.3    Walweel, K.4    Pereira, L.5    Johnson, C.N.6
  • 41
    • 5344223383 scopus 로고    scopus 로고
    • Cav1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, et al. Cav1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004;119:19-31
    • (2004) Cell. , vol.119 , pp. 19-31
    • Splawski, I.1    Timothy, K.W.2    Sharpe, L.M.3    Decher, N.4    Kumar, P.5    Bloise, R.6
  • 42
    • 59849125934 scopus 로고    scopus 로고
    • 2+ sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia
    • 12p following 209
    • 2+ sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia. Circ Res. 2009;104:201-209, 12p following 209
    • (2009) Circ Res. , vol.104 , pp. 201-209
    • Fernández-Velasco, M.1    Rueda, A.2    Rizzi, N.3    Benitah, J.P.4    Colombi, B.5    Napolitano, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.