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Volumn 1832, Issue 12, 2013, Pages 2451-2461

Genetics of heart failure

Author keywords

Candidate gene study; Cardiomyopathy; Genetics; GWAS; Heart failure; High throughput sequencing

Indexed keywords

ACTIN; ADENYLATE CYCLASE; ALPHA TROPOMYOSIN; ANKYRIN; BETA 1 ADRENERGIC RECEPTOR; CARVEDILOL; CONNECTIN; DELTA SARCOGLYCAN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DYSTROPHIN; G PROTEIN COUPLED RECEPTOR KINASE; INTEGRIN LINKED KINASE; LAMIN A; LAMIN C; LAMININ A4; METOPROLOL; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN BETA; PHOSPHOLAMBAN; PLAKOGLOBIN; PRESENILIN 1; PRESENILIN 2; RNA BINDING PROTEIN; RNA BINDING PROTEIN 20; SODIUM CHANNEL NAV1.5; THYMOPOIETIN; TROPONIN C; TROPONIN I; TROPONIN T; UNCLASSIFIED DRUG;

EID: 84887618325     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2012.12.012     Document Type: Review
Times cited : (33)

References (133)
  • 1
    • 53249090182 scopus 로고    scopus 로고
    • E.S.C. Guidelines for the diagnosis and treatment of acute and chronic heart failure, the Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2008 of the European Society of Cardiology. Developed in collaboration with the Heart Failure Association of the ESC (HFA) and endorsed by the European Society of Intensive Care Medicine (ESICM)
    • Dickstein K., Cohen-Solal A., Filippatos G., McMurray J.J., Ponikowski P., Poole-Wilson P.A., Stromberg A., van Veldhuisen D.J., Atar D., Hoes A.W., Keren A., Mebazaa A., Nieminen M., Priori S.G., Swedberg K. E.S.C. Guidelines for the diagnosis and treatment of acute and chronic heart failure, the Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2008 of the European Society of Cardiology. Developed in collaboration with the Heart Failure Association of the ESC (HFA) and endorsed by the European Society of Intensive Care Medicine (ESICM). Eur. Heart J. 2008, 29(2008):2388-2442.
    • (2008) Eur. Heart J. , vol.29 , Issue.2008 , pp. 2388-2442
    • Dickstein, K.1    Cohen-Solal, A.2    Filippatos, G.3    McMurray, J.J.4    Ponikowski, P.5    Poole-Wilson, P.A.6    Stromberg, A.7    van Veldhuisen, D.J.8    Atar, D.9    Hoes, A.W.10    Keren, A.11    Mebazaa, A.12    Nieminen, M.13    Priori, S.G.14    Swedberg, K.15
  • 2
    • 65549145093 scopus 로고    scopus 로고
    • 2009 focused update incorporated into the ACC/AHA 2005 Guidelines for the Diagnosis and Management of Heart Failure in Adults: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines: developed in collaboration with the International Society for Heart and Lung Transplantation
    • Hunt S.A., Abraham W.T., Chin M.H., Feldman A.M., Francis G.S., Ganiats T.G., Jessup M., Konstam M.A., Mancini D.M., Michl K., Oates J.A., Rahko P.S., Silver M.A., Stevenson L.W., Yancy C.W. 2009 focused update incorporated into the ACC/AHA 2005 Guidelines for the Diagnosis and Management of Heart Failure in Adults: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines: developed in collaboration with the International Society for Heart and Lung Transplantation. Circulation 2009, 119:e391-e479.
    • (2009) Circulation , vol.119
    • Hunt, S.A.1    Abraham, W.T.2    Chin, M.H.3    Feldman, A.M.4    Francis, G.S.5    Ganiats, T.G.6    Jessup, M.7    Konstam, M.A.8    Mancini, D.M.9    Michl, K.10    Oates, J.A.11    Rahko, P.S.12    Silver, M.A.13    Stevenson, L.W.14    Yancy, C.W.15
  • 6
    • 40949086056 scopus 로고    scopus 로고
    • Heart failure incidence and survival (from the Atherosclerosis Risk in Communities study)
    • Loehr L.R., Rosamond W.D., Chang P.P., Folsom A.R., Chambless L.E. Heart failure incidence and survival (from the Atherosclerosis Risk in Communities study). Am. J. Cardiol. 2008, 101:1016-1022.
    • (2008) Am. J. Cardiol. , vol.101 , pp. 1016-1022
    • Loehr, L.R.1    Rosamond, W.D.2    Chang, P.P.3    Folsom, A.R.4    Chambless, L.E.5
  • 9
    • 84856703950 scopus 로고    scopus 로고
    • Genetics of inherited cardiomyopathy
    • Jacoby D., McKenna W.J. Genetics of inherited cardiomyopathy. Eur. Heart J. 2012, 33:296-304.
    • (2012) Eur. Heart J. , vol.33 , pp. 296-304
    • Jacoby, D.1    McKenna, W.J.2
  • 11
    • 78649283173 scopus 로고    scopus 로고
    • Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy
    • Sen-Chowdhry S., Syrris P., Pantazis A., Quarta G., McKenna W.J., Chambers J.C. Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy. Circ. Cardiovasc. Genet. 2010, 3:323-330.
    • (2010) Circ. Cardiovasc. Genet. , vol.3 , pp. 323-330
    • Sen-Chowdhry, S.1    Syrris, P.2    Pantazis, A.3    Quarta, G.4    McKenna, W.J.5    Chambers, J.C.6
  • 12
    • 0026695294 scopus 로고
    • The neurohormonal hypothesis: a theory to explain the mechanism of disease progression in heart failure
    • Packer M. The neurohormonal hypothesis: a theory to explain the mechanism of disease progression in heart failure. J. Am. Coll. Cardiol. 1992, 20:248-254.
    • (1992) J. Am. Coll. Cardiol. , vol.20 , pp. 248-254
    • Packer, M.1
  • 13
    • 77955612761 scopus 로고    scopus 로고
    • Adrenergic signaling polymorphisms and their impact on cardiovascular disease
    • Dorn G.W. Adrenergic signaling polymorphisms and their impact on cardiovascular disease. Physiol. Rev. 2010, 90:1013-1062.
    • (2010) Physiol. Rev. , vol.90 , pp. 1013-1062
    • Dorn, G.W.1
  • 14
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • A map of human genome variation from population-scale sequencing. Nature 2010, 467:1061-1073.
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 15
    • 0033617342 scopus 로고    scopus 로고
    • A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor
    • Mason D.A., Moore J.D., Green S.A., Liggett S.B. A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor. J. Biol. Chem. 1999, 274:12670-12674.
    • (1999) J. Biol. Chem. , vol.274 , pp. 12670-12674
    • Mason, D.A.1    Moore, J.D.2    Green, S.A.3    Liggett, S.B.4
  • 16
    • 2542510781 scopus 로고    scopus 로고
    • Markedly reduced effects of (-)-isoprenaline but not of (-)-CGP12177 and unchanged affinity of beta-blockers at Gly389-beta1-adrenoceptors compared to Arg389-beta1-adrenoceptors
    • Joseph S.S., Lynham J.A., Grace A.A., Colledge W.H., Kaumann A.J. Markedly reduced effects of (-)-isoprenaline but not of (-)-CGP12177 and unchanged affinity of beta-blockers at Gly389-beta1-adrenoceptors compared to Arg389-beta1-adrenoceptors. Br. J. Pharmacol. 2004, 142:51-56.
    • (2004) Br. J. Pharmacol. , vol.142 , pp. 51-56
    • Joseph, S.S.1    Lynham, J.A.2    Grace, A.A.3    Colledge, W.H.4    Kaumann, A.J.5
  • 17
    • 0038576293 scopus 로고    scopus 로고
    • Hierarchy of polymorphic variation and desensitization permutations relative to beta 1- and beta 2-adrenergic receptor signaling
    • Rathz D.A., Gregory K.N., Fang Y., Brown K.M., Liggett S.B. Hierarchy of polymorphic variation and desensitization permutations relative to beta 1- and beta 2-adrenergic receptor signaling. J. Biol. Chem. 2003, 278:10784-10789.
    • (2003) J. Biol. Chem. , vol.278 , pp. 10784-10789
    • Rathz, D.A.1    Gregory, K.N.2    Fang, Y.3    Brown, K.M.4    Liggett, S.B.5
  • 19
    • 0034636061 scopus 로고    scopus 로고
    • Early and delayed consequences of beta(2)-adrenergic receptor overexpression in mouse hearts: critical role for expression level
    • Liggett S.B., Tepe N.M., Lorenz J.N., Canning A.M., Jantz T.D., Mitarai S., Yatani A., Dorn G.W. Early and delayed consequences of beta(2)-adrenergic receptor overexpression in mouse hearts: critical role for expression level. Circulation 2000, 101:1707-1714.
    • (2000) Circulation , vol.101 , pp. 1707-1714
    • Liggett, S.B.1    Tepe, N.M.2    Lorenz, J.N.3    Canning, A.M.4    Jantz, T.D.5    Mitarai, S.6    Yatani, A.7    Dorn, G.W.8
  • 21
    • 33845973320 scopus 로고    scopus 로고
    • Real-time optical recording of beta1-adrenergic receptor activation reveals supersensitivity of the Arg389 variant to carvedilol
    • Rochais F., Vilardaga J.P., Nikolaev V.O., Bunemann M., Lohse M.J., Engelhardt S. Real-time optical recording of beta1-adrenergic receptor activation reveals supersensitivity of the Arg389 variant to carvedilol. J. Clin. Invest. 2007, 117:229-235.
    • (2007) J. Clin. Invest. , vol.117 , pp. 229-235
    • Rochais, F.1    Vilardaga, J.P.2    Nikolaev, V.O.3    Bunemann, M.4    Lohse, M.J.5    Engelhardt, S.6
  • 23
    • 28144435445 scopus 로고    scopus 로고
    • Confirmation of a role for the 389R>G beta-1 adrenoceptor polymorphism on exercise capacity in heart failure
    • Sandilands A.J., Parameshwar J., Large S., Brown M.J., O'Shaughnessy K.M. Confirmation of a role for the 389R>G beta-1 adrenoceptor polymorphism on exercise capacity in heart failure. Heart 2005, 91:1613-1614.
    • (2005) Heart , vol.91 , pp. 1613-1614
    • Sandilands, A.J.1    Parameshwar, J.2    Large, S.3    Brown, M.J.4    O'Shaughnessy, K.M.5
  • 29
    • 55749111239 scopus 로고    scopus 로고
    • A polymorphism of G-protein coupled receptor kinase5 alters agonist-promoted desensitization of beta2-adrenergic receptors
    • Wang W.C., Mihlbachler K.A., Bleecker E.R., Weiss S.T., Liggett S.B. A polymorphism of G-protein coupled receptor kinase5 alters agonist-promoted desensitization of beta2-adrenergic receptors. Pharmacogenet. Genomics 2008, 18:729-732.
    • (2008) Pharmacogenet. Genomics , vol.18 , pp. 729-732
    • Wang, W.C.1    Mihlbachler, K.A.2    Bleecker, E.R.3    Weiss, S.T.4    Liggett, S.B.5
  • 30
    • 79955052165 scopus 로고    scopus 로고
    • Genetics of common forms of heart failure
    • Dorn G.W. Genetics of common forms of heart failure. Curr. Opin. Cardiol. 2011, 26:204-208.
    • (2011) Curr. Opin. Cardiol. , vol.26 , pp. 204-208
    • Dorn, G.W.1
  • 32
    • 0025165779 scopus 로고
    • An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels
    • Rigat B., Hubert C., Alhenc-Gelas F., Cambien F., Corvol P., Soubrier F. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J. Clin. Invest. 1990, 86:1343-1346.
    • (1990) J. Clin. Invest. , vol.86 , pp. 1343-1346
    • Rigat, B.1    Hubert, C.2    Alhenc-Gelas, F.3    Cambien, F.4    Corvol, P.5    Soubrier, F.6
  • 34
    • 0030198578 scopus 로고    scopus 로고
    • The DD genotype of the angiotensin-converting enzyme gene is associated with increased mortality in idiopathic heart failure
    • Andersson B., Sylven C. The DD genotype of the angiotensin-converting enzyme gene is associated with increased mortality in idiopathic heart failure. J. Am. Coll. Cardiol. 1996, 28:162-167.
    • (1996) J. Am. Coll. Cardiol. , vol.28 , pp. 162-167
    • Andersson, B.1    Sylven, C.2
  • 35
    • 0037420122 scopus 로고    scopus 로고
    • Angiotensin-converting enzyme gene polymorphism interacts with left ventricular ejection fraction and brain natriuretic peptide levels to predict mortality after myocardial infarction
    • Palmer B.R., Pilbrow A.P., Yandle T.G., Frampton C.M., Richards A.M., Nicholls M.G., Cameron V.A. Angiotensin-converting enzyme gene polymorphism interacts with left ventricular ejection fraction and brain natriuretic peptide levels to predict mortality after myocardial infarction. J. Am. Coll. Cardiol. 2003, 41:729-736.
    • (2003) J. Am. Coll. Cardiol. , vol.41 , pp. 729-736
    • Palmer, B.R.1    Pilbrow, A.P.2    Yandle, T.G.3    Frampton, C.M.4    Richards, A.M.5    Nicholls, M.G.6    Cameron, V.A.7
  • 36
    • 0842348055 scopus 로고    scopus 로고
    • Association of the angiotensin-converting enzyme gene polymorphism with chronic heart failure in Chinese Han patients
    • Huang W., Xie C., Zhou H., Yang T., Sun M. Association of the angiotensin-converting enzyme gene polymorphism with chronic heart failure in Chinese Han patients. Eur. J. Heart Fail. 2004, 6:23-27.
    • (2004) Eur. J. Heart Fail. , vol.6 , pp. 23-27
    • Huang, W.1    Xie, C.2    Zhou, H.3    Yang, T.4    Sun, M.5
  • 37
    • 0035957262 scopus 로고    scopus 로고
    • Pharmacogenetic interactions between beta-blocker therapy and the angiotensin-converting enzyme deletion polymorphism in patients with congestive heart failure
    • McNamara D.M., Holubkov R., Janosko K., Palmer A., Wang J.J., MacGowan G.A., Murali S., Rosenblum W.D., London B., Feldman A.M. Pharmacogenetic interactions between beta-blocker therapy and the angiotensin-converting enzyme deletion polymorphism in patients with congestive heart failure. Circulation 2001, 103:1644-1648.
    • (2001) Circulation , vol.103 , pp. 1644-1648
    • McNamara, D.M.1    Holubkov, R.2    Janosko, K.3    Palmer, A.4    Wang, J.J.5    MacGowan, G.A.6    Murali, S.7    Rosenblum, W.D.8    London, B.9    Feldman, A.M.10
  • 38
    • 8144221236 scopus 로고    scopus 로고
    • Pharmacogenetic interactions between angiotensin-converting enzyme inhibitor therapy and the angiotensin-converting enzyme deletion polymorphism in patients with congestive heart failure
    • McNamara D.M., Holubkov R., Postava L., Janosko K., MacGowan G.A., Mathier M., Murali S., Feldman A.M., London B. Pharmacogenetic interactions between angiotensin-converting enzyme inhibitor therapy and the angiotensin-converting enzyme deletion polymorphism in patients with congestive heart failure. J. Am. Coll. Cardiol. 2004, 44:2019-2026.
    • (2004) J. Am. Coll. Cardiol. , vol.44 , pp. 2019-2026
    • McNamara, D.M.1    Holubkov, R.2    Postava, L.3    Janosko, K.4    MacGowan, G.A.5    Mathier, M.6    Murali, S.7    Feldman, A.M.8    London, B.9
  • 39
    • 0027425610 scopus 로고
    • Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death
    • Marian A.J., Yu Q.T., Workman R., Greve G., Roberts R. Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death. Lancet 1993, 342:1085-1086.
    • (1993) Lancet , vol.342 , pp. 1085-1086
    • Marian, A.J.1    Yu, Q.T.2    Workman, R.3    Greve, G.4    Roberts, R.5
  • 42
    • 0028625446 scopus 로고
    • DD genotype of the angiotensin-converting enzyme gene is a risk factor for left ventricular hypertrophy
    • Iwai N., Ohmichi N., Nakamura Y., Kinoshita M. DD genotype of the angiotensin-converting enzyme gene is a risk factor for left ventricular hypertrophy. Circulation 1994, 90:2622-2628.
    • (1994) Circulation , vol.90 , pp. 2622-2628
    • Iwai, N.1    Ohmichi, N.2    Nakamura, Y.3    Kinoshita, M.4
  • 43
    • 0028263741 scopus 로고
    • Association between a deletion polymorphism of the angiotensin-converting-enzyme gene and left ventricular hypertrophy
    • Schunkert H., Hense H.W., Holmer S.R., Stender M., Perz S., Keil U., Lorell B.H., Riegger G.A. Association between a deletion polymorphism of the angiotensin-converting-enzyme gene and left ventricular hypertrophy. N. Engl. J. Med. 1994, 330:1634-1638.
    • (1994) N. Engl. J. Med. , vol.330 , pp. 1634-1638
    • Schunkert, H.1    Hense, H.W.2    Holmer, S.R.3    Stender, M.4    Perz, S.5    Keil, U.6    Lorell, B.H.7    Riegger, G.A.8
  • 44
    • 0035895320 scopus 로고    scopus 로고
    • Left ventricular hypertrophy with exercise and ACE gene insertion/deletion polymorphism: a randomized controlled trial with losartan
    • Myerson S.G., Montgomery H.E., Whittingham M., Jubb M., World M.J., Humphries S.E., Pennell D.J. Left ventricular hypertrophy with exercise and ACE gene insertion/deletion polymorphism: a randomized controlled trial with losartan. Circulation 2001, 103:226-230.
    • (2001) Circulation , vol.103 , pp. 226-230
    • Myerson, S.G.1    Montgomery, H.E.2    Whittingham, M.3    Jubb, M.4    World, M.J.5    Humphries, S.E.6    Pennell, D.J.7
  • 45
    • 0030812975 scopus 로고    scopus 로고
    • Influence of the angiotensin converting enzyme I/D gene polymorphisms on left ventricular diastolic filling in patients with essential hypertension
    • Clarkson P.B., Prasad N., MacLeod C., Burchell B., MacDonald T.M. Influence of the angiotensin converting enzyme I/D gene polymorphisms on left ventricular diastolic filling in patients with essential hypertension. J. Hypertens. 1997, 15:995-1000.
    • (1997) J. Hypertens. , vol.15 , pp. 995-1000
    • Clarkson, P.B.1    Prasad, N.2    MacLeod, C.3    Burchell, B.4    MacDonald, T.M.5
  • 47
    • 0032999075 scopus 로고    scopus 로고
    • Prevalence of the angiotensin I converting enzyme insertion/deletion polymorphism, plasma angiotensin converting enzyme activity, and left ventricular mass in a normotensive Chilean population
    • Jalil J.E., Piddo A.M., Cordova S., Chamorro G., Braun S., Jalil R., Vega J., Jadue P.L., Lavandero S., Lastra P. Prevalence of the angiotensin I converting enzyme insertion/deletion polymorphism, plasma angiotensin converting enzyme activity, and left ventricular mass in a normotensive Chilean population. Am. J. Hypertens. 1999, 12:697-704.
    • (1999) Am. J. Hypertens. , vol.12 , pp. 697-704
    • Jalil, J.E.1    Piddo, A.M.2    Cordova, S.3    Chamorro, G.4    Braun, S.5    Jalil, R.6    Vega, J.7    Jadue, P.L.8    Lavandero, S.9    Lastra, P.10
  • 48
    • 84860250648 scopus 로고    scopus 로고
    • Association of angiotensin-converting enzyme I/D polymorphism with heart failure: a meta-analysis
    • Bai Y., Wang L., Hu S., Wei Y. Association of angiotensin-converting enzyme I/D polymorphism with heart failure: a meta-analysis. Mol. Cell. Biochem. 2012, 361:297-304.
    • (2012) Mol. Cell. Biochem. , vol.361 , pp. 297-304
    • Bai, Y.1    Wang, L.2    Hu, S.3    Wei, Y.4
  • 49
    • 85027955517 scopus 로고    scopus 로고
    • Angiotensin-converting enzyme gene deletion allele increases the risk of left ventricular hypertrophy: evidence from a meta-analysis
    • Li X., Li Y., Jia N., Guo S., Chu S., Niu W. Angiotensin-converting enzyme gene deletion allele increases the risk of left ventricular hypertrophy: evidence from a meta-analysis. Mol. Biol. Rep. 2012, 39(12):10063-10075.
    • (2012) Mol. Biol. Rep. , vol.39 , Issue.12 , pp. 10063-10075
    • Li, X.1    Li, Y.2    Jia, N.3    Guo, S.4    Chu, S.5    Niu, W.6
  • 51
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007, 447:661-678.
    • (2007) Nature , vol.447 , pp. 661-678
  • 60
    • 82555192222 scopus 로고    scopus 로고
    • Genomics of cardiovascular disease
    • O'Donnell C.J., Nabel E.G. Genomics of cardiovascular disease. N. Engl. J. Med. 2011, 365:2098-2109.
    • (2011) N. Engl. J. Med. , vol.365 , pp. 2098-2109
    • O'Donnell, C.J.1    Nabel, E.G.2
  • 61
    • 84858383447 scopus 로고    scopus 로고
    • Genetics of human cardiovascular disease
    • Kathiresan S., Srivastava D. Genetics of human cardiovascular disease. Cell 2012, 148:1242-1257.
    • (2012) Cell , vol.148 , pp. 1242-1257
    • Kathiresan, S.1    Srivastava, D.2
  • 63
    • 79953221100 scopus 로고    scopus 로고
    • A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
    • A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. Nat. Genet. 2011, 43:339-344.
    • (2011) Nat. Genet. , vol.43 , pp. 339-344
  • 70
    • 15944403997 scopus 로고    scopus 로고
    • Clinical and genetic issues in familial dilated cardiomyopathy
    • Burkett E.L., Hershberger R.E. Clinical and genetic issues in familial dilated cardiomyopathy. J. Am. Coll. Cardiol. 2005, 45:969-981.
    • (2005) J. Am. Coll. Cardiol. , vol.45 , pp. 969-981
    • Burkett, E.L.1    Hershberger, R.E.2
  • 72
    • 0031885093 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease
    • Baig M.K., Goldman J.H., Caforio A.L., Coonar A.S., Keeling P.J., McKenna W.J. Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J. Am. Coll. Cardiol. 1998, 31:195-201.
    • (1998) J. Am. Coll. Cardiol. , vol.31 , pp. 195-201
    • Baig, M.K.1    Goldman, J.H.2    Caforio, A.L.3    Coonar, A.S.4    Keeling, P.J.5    McKenna, W.J.6
  • 76
    • 78649631986 scopus 로고    scopus 로고
    • Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals
    • Hershberger R.E., Morales A., Siegfried J.D. Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet. Med. 2010, 12:655-667.
    • (2010) Genet. Med. , vol.12 , pp. 655-667
    • Hershberger, R.E.1    Morales, A.2    Siegfried, J.D.3
  • 77
    • 79953842000 scopus 로고    scopus 로고
    • Update 2011: clinical and genetic issues in familial dilated cardiomyopathy
    • Hershberger R.E., Siegfried J.D. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J. Am. Coll. Cardiol. 2011, 57:1641-1649.
    • (2011) J. Am. Coll. Cardiol. , vol.57 , pp. 1641-1649
    • Hershberger, R.E.1    Siegfried, J.D.2
  • 83
    • 5644229494 scopus 로고    scopus 로고
    • SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
    • McNair W.P., Ku L., Taylor M.R., Fain P.R., Dao D., Wolfel E., Mestroni L. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation 2004, 110:2163-2167.
    • (2004) Circulation , vol.110 , pp. 2163-2167
    • McNair, W.P.1    Ku, L.2    Taylor, M.R.3    Fain, P.R.4    Dao, D.5    Wolfel, E.6    Mestroni, L.7
  • 85
    • 2942530660 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy
    • Elliott P., McKenna W.J. Hypertrophic cardiomyopathy. Lancet 2004, 363:1881-1891.
    • (2004) Lancet , vol.363 , pp. 1881-1891
    • Elliott, P.1    McKenna, W.J.2
  • 86
    • 0242522154 scopus 로고    scopus 로고
    • American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines
    • Maron B.J., McKenna W.J., Danielson G.K., Kappenberger L.J., Kuhn H.J., Seidman C.E., Shah P.M., Spencer W.H., Spirito P., Ten Cate F.J., Wigle E.D. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J. Am. Coll. Cardiol. 2003, 42:1687-1713.
    • (2003) J. Am. Coll. Cardiol. , vol.42 , pp. 1687-1713
    • Maron, B.J.1    McKenna, W.J.2    Danielson, G.K.3    Kappenberger, L.J.4    Kuhn, H.J.5    Seidman, C.E.6    Shah, P.M.7    Spencer, W.H.8    Spirito, P.9    Ten Cate, F.J.10    Wigle, E.D.11
  • 88
    • 0035835456 scopus 로고    scopus 로고
    • Relation between severity of left-ventricular hypertrophy and prognosis in patients with hypertrophic cardiomyopathy
    • Elliott P.M., Gimeno Blanes J.R., Mahon N.G., Poloniecki J.D., McKenna W.J. Relation between severity of left-ventricular hypertrophy and prognosis in patients with hypertrophic cardiomyopathy. Lancet 2001, 357:420-424.
    • (2001) Lancet , vol.357 , pp. 420-424
    • Elliott, P.M.1    Gimeno Blanes, J.R.2    Mahon, N.G.3    Poloniecki, J.D.4    McKenna, W.J.5
  • 91
    • 0025040392 scopus 로고
    • A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation
    • Geisterfer-Lowrance A.A., Kass S., Tanigawa G., Vosberg H.P., McKenna W., Seidman C.E., Seidman J.G. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990, 62:999-1006.
    • (1990) Cell , vol.62 , pp. 999-1006
    • Geisterfer-Lowrance, A.A.1    Kass, S.2    Tanigawa, G.3    Vosberg, H.P.4    McKenna, W.5    Seidman, C.E.6    Seidman, J.G.7
  • 93
    • 0028178083 scopus 로고
    • Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere
    • Thierfelder L., Watkins H., MacRae C., Lamas R., McKenna W., Vosberg H.P., Seidman J.G., Seidman C.E. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994, 77:701-712.
    • (1994) Cell , vol.77 , pp. 701-712
    • Thierfelder, L.1    Watkins, H.2    MacRae, C.3    Lamas, R.4    McKenna, W.5    Vosberg, H.P.6    Seidman, J.G.7    Seidman, C.E.8
  • 96
    • 40649100317 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression
    • Keren A., Syrris P., McKenna W.J. 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
  • 97
    • 0025106446 scopus 로고
    • Isolated noncompaction of left ventricular myocardium. A study of eight cases
    • Chin T.K., Perloff J.K., Williams R.G., Jue K., Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 1990, 82:507-513.
    • (1990) Circulation , vol.82 , pp. 507-513
    • Chin, T.K.1    Perloff, J.K.2    Williams, R.G.3    Jue, K.4    Mohrmann, R.5
  • 98
    • 0035185141 scopus 로고    scopus 로고
    • Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy
    • Jenni R., Oechslin E., Schneider J., Attenhofer Jost C., Kaufmann P.A. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 2001, 86:666-671.
    • (2001) Heart , vol.86 , pp. 666-671
    • Jenni, R.1    Oechslin, E.2    Schneider, J.3    Attenhofer Jost, C.4    Kaufmann, P.A.5
  • 99
    • 0041821469 scopus 로고    scopus 로고
    • Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients
    • Sasse-Klaassen S., Gerull B., Oechslin E., Jenni R., Thierfelder L. Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. Am. J. Med. Genet. A 2003, 119A:162-167.
    • (2003) Am. J. Med. Genet. A , vol.119 A , pp. 162-167
    • Sasse-Klaassen, S.1    Gerull, B.2    Oechslin, E.3    Jenni, R.4    Thierfelder, L.5
  • 100
    • 58549084378 scopus 로고    scopus 로고
    • Left ventricular noncompaction
    • Ichida F. Left ventricular noncompaction. Circ. J. 2009, 73:19-26.
    • (2009) Circ. J. , vol.73 , pp. 19-26
    • Ichida, F.1
  • 105
    • 79957479784 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update
    • Azaouagh A., Churzidse S., Konorza T., Erbel R. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update. Clin. Res. Cardiol. 2011, 100:383-394.
    • (2011) Clin. Res. Cardiol. , vol.100 , pp. 383-394
    • Azaouagh, A.1    Churzidse, S.2    Konorza, T.3    Erbel, R.4
  • 106
    • 0034679297 scopus 로고    scopus 로고
    • Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
    • McKoy G., Protonotarios N., Crosby A., Tsatsopoulou A., Anastasakis A., Coonar A., Norman M., Baboonian C., Jeffery S., McKenna W.J. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000, 355:2119-2124.
    • (2000) Lancet , vol.355 , pp. 2119-2124
    • McKoy, G.1    Protonotarios, N.2    Crosby, A.3    Tsatsopoulou, A.4    Anastasakis, A.5    Coonar, A.6    Norman, M.7    Baboonian, C.8    Jeffery, S.9    McKenna, W.J.10
  • 107
    • 2942726109 scopus 로고    scopus 로고
    • Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy
    • Protonotarios N., Tsatsopoulou A. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc. Pathol. 2004, 13:185-194.
    • (2004) Cardiovasc. Pathol. , vol.13 , pp. 185-194
    • Protonotarios, N.1    Tsatsopoulou, A.2
  • 115
    • 84857527064 scopus 로고    scopus 로고
    • DNA sequencing: clinical applications of new DNA sequencing technologies
    • Dewey F.E., Pan S., Wheeler M.T., Quake S.R., Ashley E.A. DNA sequencing: clinical applications of new DNA sequencing technologies. Circulation 2012, 125:931-944.
    • (2012) Circulation , vol.125 , pp. 931-944
    • Dewey, F.E.1    Pan, S.2    Wheeler, M.T.3    Quake, S.R.4    Ashley, E.A.5
  • 116
    • 77951974619 scopus 로고    scopus 로고
    • Interpretation of association signals and identification of causal variants from genome-wide association studies
    • Wang K., Dickson S.P., Stolle C.A., Krantz I.D., Goldstein D.B., Hakonarson H. Interpretation of association signals and identification of causal variants from genome-wide association studies. Am. J. Hum. Genet. 2010, 86:730-742.
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 730-742
    • Wang, K.1    Dickson, S.P.2    Stolle, C.A.3    Krantz, I.D.4    Goldstein, D.B.5    Hakonarson, H.6
  • 117
    • 34147116715 scopus 로고    scopus 로고
    • Most rare missense alleles are deleterious in humans: implications for complex disease and association studies
    • Kryukov G.V., Pennacchio L.A., Sunyaev S.R. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am. J. Hum. Genet. 2007, 80:727-739.
    • (2007) Am. J. Hum. Genet. , vol.80 , pp. 727-739
    • Kryukov, G.V.1    Pennacchio, L.A.2    Sunyaev, S.R.3
  • 118
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies - the next generation
    • Metzker M.L. Sequencing technologies - the next generation. Nat. Rev. Genet. 2010, 11:31-46.
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 121
    • 0026573969 scopus 로고
    • Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    • Watkins H., Rosenzweig A., Hwang D.S., Levi T., McKenna W., Seidman C.E., Seidman J.G. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N. Engl. J. Med. 1992, 326:1108-1114.
    • (1992) N. Engl. J. Med. , vol.326 , pp. 1108-1114
    • Watkins, H.1    Rosenzweig, A.2    Hwang, D.S.3    Levi, T.4    McKenna, W.5    Seidman, C.E.6    Seidman, J.G.7
  • 123
    • 0031952705 scopus 로고    scopus 로고
    • Genotype:phenotype correlations in hypertrophic cardiomyopathy
    • Watkins H. Genotype:phenotype correlations in hypertrophic cardiomyopathy. Eur. Heart J. 1998, 19:10-12.
    • (1998) Eur. Heart J. , vol.19 , pp. 10-12
    • Watkins, H.1
  • 124
    • 0032483037 scopus 로고    scopus 로고
    • Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis
    • Anan R., Shono H., Kisanuki A., Arima S., Nakao S., Tanaka H. Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis. Circulation 1998, 98:391-397.
    • (1998) Circulation , vol.98 , pp. 391-397
    • Anan, R.1    Shono, H.2    Kisanuki, A.3    Arima, S.4    Nakao, S.5    Tanaka, H.6
  • 125
    • 0037134832 scopus 로고    scopus 로고
    • Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective
    • Ackerman M.J., VanDriest S.L., Ommen S.R., Will M.L., Nishimura R.A., Tajik A.J., Gersh B.J. Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. J. Am. Coll. Cardiol. 2002, 39:2042-2048.
    • (2002) J. Am. Coll. Cardiol. , vol.39 , pp. 2042-2048
    • Ackerman, M.J.1    VanDriest, S.L.2    Ommen, S.R.3    Will, M.L.4    Nishimura, R.A.5    Tajik, A.J.6    Gersh, B.J.7
  • 127
    • 84860818609 scopus 로고    scopus 로고
    • Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome
    • Page S.P., Kounas S., Syrris P., Christiansen M., Frank-Hansen R., Anderson P.S., Elliott P.M., McKenna W.J. Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. Circ. Cardiovasc. Genet. 2012, 5(2):156-166.
    • (2012) Circ. Cardiovasc. Genet. , vol.5 , Issue.2 , pp. 156-166
    • Page, S.P.1    Kounas, S.2    Syrris, P.3    Christiansen, M.4    Frank-Hansen, R.5    Anderson, P.S.6    Elliott, P.M.7    McKenna, W.J.8
  • 132
    • 84967134072 scopus 로고
    • Familial hypertrophic cardiomyopathy overview
    • 2008 Aug 5 [Updated 2011 May 17], University of Washington, Seattle (WA), (Available from:), R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.)
    • Cirino A.L., Ho C. Familial hypertrophic cardiomyopathy overview. GeneReviews™ [Internet] 1993, 2008 Aug 5 [Updated 2011 May 17], University of Washington, Seattle (WA), (Available from: http://www.ncbi.nlm.nih.gov/books/NBK1768/). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.).
    • (1993) GeneReviews™ [Internet]
    • Cirino, A.L.1    Ho, C.2
  • 133
    • 84928322041 scopus 로고
    • Arrhythmogenic right ventricular dysplasia/cardiomyopathy, autosomal dominant
    • 2005 Apr 18 [Updated 2009 Oct 13], University of Washington, Seattle (WA), (Available from:), R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.)
    • McNally E., MacLeod H., Dellefave L. Arrhythmogenic right ventricular dysplasia/cardiomyopathy, autosomal dominant. GeneReviews™ [Internet] 1993, 2005 Apr 18 [Updated 2009 Oct 13], University of Washington, Seattle (WA), (Available from: http://www.ncbi.nlm.nih.gov/books/NBK1131/). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.).
    • (1993) GeneReviews™ [Internet]
    • McNally, E.1    MacLeod, H.2    Dellefave, L.3


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