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Volumn 4, Issue 3, 2011, Pages 288-295

Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy

Author keywords

Genotyping; Hypertrophic cardiomyopathy; Sarcomere

Indexed keywords

ACTIN; ALPHA TROPOMYOSIN; CELL PROTEIN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN BETA; MYOSIN LIGHT CHAIN 2; MYOSIN LIGHT CHAIN 3; OSTEOCALCIN; PRKAG2 PROTEIN; SARCOMERE PROTEIN; TROPONIN I; TROPONIN T; UNCLASSIFIED DRUG;

EID: 80052714152     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.110.958835     Document Type: Article
Times cited : (45)

References (33)
  • 1
    • 0029083650 scopus 로고
    • Prevalence of hypertrophic cardiomyopathy in a general population of young adults: Echocardiographic analysis of 4111 subjects in the CARDIA Study: Coronary Artery Risk Development in (Young) Adults
    • Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults: echocardiographic analysis of 4111 subjects in the CARDIA Study: Coronary Artery Risk Development in (Young) Adults. Circulation. 1995;92:785-789.
    • (1995) Circulation. , vol.92 , pp. 785-789
    • Maron, B.J.1    Gardin, J.M.2    Flack, J.M.3    Gidding, S.S.4    Kurosaki, T.T.5    Bild, D.E.6
  • 2
    • 37549040201 scopus 로고    scopus 로고
    • Genetic basis of hypertrophic cardiomyopathy: From bench to the clinics
    • Alcalai R, Seidman JG, Seidman CE. Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol. 2008;19:104-110.
    • (2008) J Cardiovasc Electrophysiol. , vol.19 , pp. 104-110
    • Alcalai, R.1    Seidman, J.G.2    Seidman, C.E.3
  • 3
    • 33645655544 scopus 로고    scopus 로고
    • Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: Septal morphological features predict the presence of myofilament mutations
    • Binder J, Ommen SR, Gersh BJ, Van Driest SL, Tajik AJ, Nishimura RA, Ackerman MJ. Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations. Mayo Clin Proc. 2006;81:459-467.
    • (2006) Mayo Clin Proc. , vol.81 , pp. 459-467
    • Binder, J.1    Ommen, S.R.2    Gersh, B.J.3    Van Driest, S.L.4    Tajik, A.J.5    Nishimura, R.A.6    Ackerman, M.J.7
  • 4
    • 40649100317 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: The genetic determinants of clinical disease expression
    • Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008;5:158-168.
    • (2008) Nat Clin Pract Cardiovasc Med. , vol.5 , pp. 158-168
    • Keren, A.1    Syrris, P.2    McKenna, W.J.3
  • 6
    • 0242660605 scopus 로고    scopus 로고
    • Comparison of prevalence of apical hypertrophic cardiomyopathy in Japan and the United States
    • DOI 10.1016/j.amjcard.2003.07.027
    • Kitaoka H, Doi Y, Casey SA, Hitomi N, Furuno T, Maron BJ. Comparison of prevalence of apical hypertrophic cardiomyopathy in Japan and the United States. Am J Cardiol. 2003;92:1183-1186. (Pubitemid 37377828)
    • (2003) American Journal of Cardiology , vol.92 , Issue.10 , pp. 1183-1186
    • Kitaoka, H.1    Doi, Y.2    Casey, S.A.3    Hitomi, N.4    Furuno, T.5    Maron, B.J.6
  • 7
    • 0028849972 scopus 로고
    • Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: Morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients
    • Klues HG, Schiffers A, Maron BJ. Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients. J Am Coll Cardiol. 1995;26: 1699-1708.
    • (1995) J Am Coll Cardiol. , vol.26 , pp. 1699-1708
    • Klues, H.G.1    Schiffers, A.2    Maron, B.J.3
  • 11
    • 0036796263 scopus 로고    scopus 로고
    • Phenotypic diversity in hypertrophic cardiomyopathy
    • Arad M, Seidman JG, Seidman CE. Phenotypic diversity in hypertrophic cardiomyopathy. Hum Mol Genet. 2002;11:2499-2506. (Pubitemid 35174714)
    • (2002) Human Molecular Genetics , vol.11 , Issue.20 , pp. 2499-2506
    • Arad, M.1    Seidman, J.G.2    Seidman, C.E.3
  • 13
    • 2942530660 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy
    • DOI 10.1016/S0140-6736(04)16358-7, PII S0140673604163587
    • Elliott P, McKenna WJ. Hypertrophic cardiomyopathy. Lancet. 2004; 363:1881-1891. (Pubitemid 38748646)
    • (2004) Lancet , vol.363 , Issue.9424 , pp. 1881-1891
    • Elliott, P.1    McKenna, W.J.2
  • 14
    • 75949086359 scopus 로고    scopus 로고
    • Multiple mutations in genetic cardiovascular disease: A marker of disease severity?
    • Kelly M, Semsarian C. Multiple mutations in genetic cardiovascular disease: a marker of disease severity? Circ Cardiovasc Genet. 2009;2: 182-190.
    • (2009) Circ Cardiovasc Genet. , vol.2 , pp. 182-190
    • Kelly, M.1    Semsarian, C.2
  • 16
    • 0031049263 scopus 로고    scopus 로고
    • Experience from clinical genetics in hypertrophic cardiomyopathy: Proposal for new diagnostic criteria in adult members of affected families
    • McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M. Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart. 1997;77:130-132. (Pubitemid 27115795)
    • (1997) Heart , vol.77 , Issue.2 , pp. 130-132
    • McKenna, W.J.1    Spirito, P.2    Desnos, M.3    Dubourg, O.4    Komajda, M.5
  • 19
    • 34547725544 scopus 로고
    • The ventricular complex in left ventricular hypertrophy as obtained by unipolar precordial and limb leads
    • Sokolow M, Lyon TP. The ventricular complex in left ventricular hypertrophy as obtained by unipolar precordial and limb leads. Am Heart J. 1949;37:161-186.
    • (1949) Am Heart J. , vol.37 , pp. 161-186
    • Sokolow, M.1    Lyon, T.P.2
  • 20
    • 29244432482 scopus 로고    scopus 로고
    • Recommendations for chamber quantification: A report from the American Society of Echocardiography's guidelines and standards committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology
    • DOI 10.1016/j.echo.2005.10.005, PII S0894731705009831
    • Lang RM, Bierig M, Devereux RB, Flachskampf FA, Foster E, Pellikka PA, Picard MH, Roman MJ, Seward J, Shanewise JS, Solomon SD, Spencer KT, Sutton MS, Stewart WJ. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr. 2005;18:1440-1463. (Pubitemid 41821197)
    • (2005) Journal of the American Society of Echocardiography , vol.18 , Issue.12 , pp. 1440-1463
    • Lang, R.M.1    Bierig, M.2    Devereux, R.B.3    Flachskampf, F.A.4    Foster, E.5    Pellikka, P.A.6    Picard, M.H.7    Roman, M.J.8    Seward, J.9    Shanewise, J.S.10    Solomon, S.D.11    Spencer, K.T.12    St John Sutton, M.13    Stewart, W.J.14
  • 22
    • 33748463805 scopus 로고    scopus 로고
    • A molecular screening strategy based on β-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy
    • DOI 10.2459/01.JCM.0000237908.26377.d6, PII 0124466520060800000007
    • Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F. A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. J Cardiovasc Med (Hagerstown). 2006;7:601-607. (Pubitemid 44350495)
    • (2006) Journal of Cardiovascular Medicine , vol.7 , Issue.8 , pp. 601-607
    • Girolami, F.1    Olivotto, I.2    Passerini, I.3    Zachara, E.4    Nistri, S.5    Re, F.6    Fantini, S.7    Baldini, K.8    Torricelli, F.9    Cecchi, F.10
  • 25
    • 0034724252 scopus 로고    scopus 로고
    • A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance
    • Moolman JA, Reith S, Uhl K, Bailey S, Gautel M, Jeschke B, Fischer C, Ochs J, McKenna WJ, Klues H, Vosberg HP. A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. Circulation. 2000;101: 1396-1402. (Pubitemid 30169861)
    • (2000) Circulation , vol.101 , Issue.12 , pp. 1396-1402
    • Moolman, J.A.1    Reith, S.2    Kerstin, U.3    Bailey, S.4    Gautel, M.5    Jeschke, B.6    Fischer, C.7    Ochs, J.8    McKenna, W.J.9    Klues, H.10    Vosberg, H.-P.11
  • 28
    • 3142572751 scopus 로고    scopus 로고
    • Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene
    • DOI 10.1016/j.amjcard.2004.03.077, PII S0002914904005259
    • Theopistou A, Anastasakis A, Miliou A, Rigopoulos A, Toutouzas P, Stefanadis C. Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene. Am J Cardiol. 2004;94:246-249. (Pubitemid 38902884)
    • (2004) American Journal of Cardiology , vol.94 , Issue.2 , pp. 246-249
    • Theopistou, A.1    Anastasakis, A.2    Miliou, A.3    Rigopoulos, A.4    Toutouzas, P.5    Stefanadis, C.6
  • 33


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.