메뉴 건너뛰기




Volumn 102, Issue 3, 2014, Pages 295-303

Hypertrophic cardiomyopathy: How do mutations lead to disease?;Cardiomiopatia hipertrófica: Como as mutações levam à doença?.

Author keywords

Cardiomyopathy; Genes; Genotype; Hypertrophic; Phenotype; Sarcomers

Indexed keywords

ALPHA ACTIN; ALPHA ACTIN CARDIAC; ALPHA TROPOMYOSIN; BINDING PROTEIN; CALMODULIN; CONNECTIN; JUNCTOPHILIN 2; LIM DOMAIN BINDING PROTEIN 3; LIM PROTEIN; LOSARTAN; MYOSIN BINDING PROTEIN C; MYOSIN ESSENTIAL LIGHT CHAIN; MYOSIN HEAVY CHAIN ALPHA; MYOSIN HEAVY CHAIN BETA; MYOSIN REGULATORY LIGHT CHAIN; MYOZENIN; NEXILIN; PEPTIDES AND PROTEINS; PHOSPHOLAMBAN; TELETHONIN; TRANSFORMING GROWTH FACTOR BETA; TROPONIN C; TROPONIN I; TROPONIN T; UNCLASSIFIED DRUG; VINCULIN;

EID: 84898712254     PISSN: 0066782X     EISSN: 16784170     Source Type: Journal    
DOI: 10.5935/abc.20140022     Document Type: Review
Times cited : (42)

References (68)
  • 1
    • 0028935226 scopus 로고
    • Sudden cardiac death in hypertrophic cardiomyopathy: Variability in phenotypic expression of beta-myosin heavy chain mutations
    • Marian AJ, Mares A Jr, Kelly DP, Yu QT, Abchee AB, Hill R, et al. Sudden cardiac death in hypertrophic cardiomyopathy: variability in phenotypic expression of beta-myosin heavy chain mutations. Eur Heart J. 1995; 16(3):368-76.
    • (1995) Eur Heart J , vol.16 , Issue.3 , pp. 368-376
    • Marian, A.J.1    Mares Jr., A.2    Kelly, D.P.3    Yu, Q.T.4    Abchee, A.B.5    Hill, R.6
  • 2
    • 0037070514 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: A systematic review
    • Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA. 2002; 287(10):1308-20.
    • (2002) JAMA , vol.287 , Issue.10 , pp. 1308-1320
    • Maron, B.J.1
  • 3
    • 77951520026 scopus 로고    scopus 로고
    • Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil
    • Marsiglia JD, Batitucci Mdo C, Paula F, Barbirato C, Arteaga E, Araujo AQ. [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil]. Arq Bras Cardiol. 2010; 94(1):10-7.
    • (2010) Arq Bras Cardiol , vol.94 , Issue.1 , pp. 10-17
    • Marsiglia, J.D.1    Batitucci, M.C.2    Paula, F.3    Barbirato, C.4    Arteaga, E.5    Araujo, A.Q.6
  • 4
    • 69249236883 scopus 로고    scopus 로고
    • Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency
    • Marston S, Copeland O, Jacques A, Livesey K, Tsang V, McKenna WJ, et al. Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. Circ Res. 2009; 105(3):219-22.
    • (2009) Circ Res , vol.105 , Issue.3 , pp. 219-222
    • Marston, S.1    Copeland, O.2    Jacques, A.3    Livesey, K.4    Tsang, V.5    McKenna, W.J.6
  • 5
    • 84863393253 scopus 로고    scopus 로고
    • Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy
    • Otsuka H, Arimura T, Abe T, Kawai H, Aizawa Y, Kubo T, et al. Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. Circ J. 2012; 76(2):453-61.
    • (2012) Circ J , vol.76 , Issue.2 , pp. 453-461
    • Otsuka, H.1    Arimura, T.2    Abe, T.3    Kawai, H.4    Aizawa, Y.5    Kubo, T.6
  • 6
    • 80052714152 scopus 로고    scopus 로고
    • Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy
    • Gruner C, Care M, Siminovitch K, Moravsky G, Wigle ED, Woo A, et al. Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. Circ Cardiovasc Genet. 2011; 4(3):288-95.
    • (2011) Circ Cardiovasc Genet , vol.4 , Issue.3 , pp. 288-295
    • Gruner, C.1    Care, M.2    Siminovitch, K.3    Moravsky, G.4    Wigle, E.D.5    Woo, A.6
  • 7
    • 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, et al. Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations. Mayo Clin Proc. 2006; 81(4):459-67.
    • (2006) Mayo Clin Proc , vol.81 , Issue.4 , 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
  • 9
    • 0028167795 scopus 로고
    • The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene
    • al-Mahdawi S, Chamberlain S, Chojnowska L, Michalak E, Nihoyannopoulos P, Ryan M, et al. The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene. Br Heart J. 1994; 72(2):105-11.
    • (1994) Br Heart J , vol.72 , Issue.2 , pp. 105-111
    • Al-Mahdawi, S.1    Chamberlain, S.2    Chojnowska, L.3    Michalak, E.4    Nihoyannopoulos, P.5    Ryan, M.6
  • 10
    • 0032499634 scopus 로고    scopus 로고
    • Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene
    • Charron P, Dubourg O, Desnos M, Bennaceur M, Carrier L, Camproux AC, et al. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation. 1998; 97(22):2230-6.
    • (1998) Circulation , vol.97 , Issue.22 , pp. 2230-2236
    • Charron, P.1    Dubourg, O.2    Desnos, M.3    Bennaceur, M.4    Carrier, L.5    Camproux, A.C.6
  • 11
  • 12
    • 0028902929 scopus 로고
    • Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy
    • Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'Donoghue A, et al. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med. 1995; 332(16):1058-64.
    • (1995) N Engl J Med , vol.332 , Issue.16 , pp. 1058-1064
    • Watkins, H.1    McKenna, W.J.2    Thierfelder, L.3    Suk, H.J.4    Anan, R.5    O'Donoghue, A.6
  • 14
    • 41149088666 scopus 로고    scopus 로고
    • Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy
    • Wang S, Zou Y, Fu C, Xu X, Wang J, Song L, et al. Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy. Clin Cardiol. 2008; 31(3):114-8.
    • (2008) Clin Cardiol , vol.31 , Issue.3 , pp. 114-118
    • Wang, S.1    Zou, Y.2    Fu, C.3    Xu, X.4    Wang, J.5    Song, L.6
  • 15
    • 4043081356 scopus 로고    scopus 로고
    • Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy
    • Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, et al. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004; 44(3):602-10.
    • (2004) J Am Coll Cardiol , vol.44 , Issue.3 , pp. 602-610
    • van Driest, S.L.1    Jaeger, M.A.2    Ommen, S.R.3    Will, M.L.4    Gersh, B.J.5    Tajik, A.J.6
  • 16
    • 80155210139 scopus 로고    scopus 로고
    • German Competence Network Heart Failure. Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: Results from the German Competence Network Heart Failure
    • Waldmuller S, Erdmann J, Binner P, Gelbrich G, Pankuweit S, Geier C, et al; German Competence Network Heart Failure. Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. Eur J Heart Fail. 2012; 13(11):1185-92.
    • (2012) Eur J Heart Fail , vol.13 , Issue.11 , pp. 1185-1192
    • Waldmuller, S.1    Erdmann, J.2    Binner, P.3    Gelbrich, G.4    Pankuweit, S.5    Geier, C.6
  • 17
    • 78650693367 scopus 로고    scopus 로고
    • Genetics and clinical destiny: Improving care in hypertrophic cardiomyopathy
    • Ho CY. Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy. Circulation. 2010; 122(23):2430-40.
    • (2010) Circulation , vol.122 , Issue.23 , pp. 2430-2440
    • Ho, C.Y.1
  • 18
    • 78650688851 scopus 로고    scopus 로고
    • Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy
    • Landstrom AP, Ackerman MJ. Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy. Circulation. 2010; 122(23):2441-9.
    • (2010) Circulation , vol.122 , Issue.23 , pp. 2441-2449
    • Landstrom, A.P.1    Ackerman, M.J.2
  • 19
    • 0034502475 scopus 로고    scopus 로고
    • Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene
    • Enjuto M, Francino A, Navarro-Lopez F, Viles D, Pare JC, Ballesta AM. Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene. J Mol Cell Cardiol. 2000; 32(12):2307-13.
    • (2000) J Mol Cell Cardiol , vol.32 , Issue.12 , pp. 2307-2313
    • Enjuto, M.1    Francino, A.2    Navarro-Lopez, F.3    Viles, D.4    Pare, J.C.5    Ballesta, A.M.6
  • 20
    • 0026573969 scopus 로고
    • Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    • Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992; 326(17):1108-14.
    • (1992) N Engl J Med , vol.326 , Issue.17 , pp. 1108-1114
    • Watkins, H.1    Rosenzweig, A.2    Hwang, D.S.3    Levi, T.4    McKenna, W.5    Seidman, C.E.6
  • 21
    • 0035354329 scopus 로고    scopus 로고
    • The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age
    • Havndrup O, Bundgaard H, Andersen PS, Larsen LA, Vuust J, Kjeldsen K, et al. The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age. Am J Cardiol. 2001; 87(11):1315-7.
    • (2001) Am J Cardiol , vol.87 , Issue.11 , pp. 1315-1317
    • Havndrup, O.1    Bundgaard, H.2    Andersen, P.S.3    Larsen, L.A.4    Vuust, J.5    Kjeldsen, K.6
  • 22
    • 0030882952 scopus 로고    scopus 로고
    • Sudden cardiac death in familial hypertrophic cardiomyopathy: Are "benign" mutations really benign?
    • Semsarian C, Yu B, Ryce C, Lawrence C, Washington H, Trent RJ. Sudden cardiac death in familial hypertrophic cardiomyopathy: are "benign" mutations really benign? Pathology. 1997; 29(3):305-8.
    • (1997) Pathology , vol.29 , Issue.3 , pp. 305-308
    • Semsarian, C.1    Yu, B.2    Ryce, C.3    Lawrence, C.4    Washington, H.5    Trent, R.J.6
  • 23
    • 0029562534 scopus 로고
    • A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy
    • Nakajima-Taniguchi C, Azuma J, Nagata S, Kishimoto T, Yamauchi-Takihara K. A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy. Jpn Circ J. 1995; 59(12):833-7.
    • (1995) Jpn Circ J , vol.59 , Issue.12 , pp. 833-837
    • Nakajima-Taniguchi, C.1    Azuma, J.2    Nagata, S.3    Kishimoto, T.4    Yamauchi-Takihara, K.5
  • 24
    • 7044264544 scopus 로고    scopus 로고
    • Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy
    • Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, et al. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004; 44(9):1903-10.
    • (2004) J Am Coll Cardiol , vol.44 , Issue.9 , pp. 1903-1910
    • van Driest, S.L.1    Vasile, V.C.2    Ommen, S.R.3    Will, M.L.4    Tajik, A.J.5    Gersh, B.J.6
  • 25
    • 0037630018 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
    • Erratum in Circulation. 2004; 109(25):3258
    • Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003; 107(17):2227-32. Erratum in Circulation. 2004; 109(25):3258.
    • (2003) Circulation , vol.107 , Issue.17 , pp. 2227-2232
    • Richard, P.1    Charron, P.2    Carrier, L.3    Ledeuil, C.4    Cheav, T.5    Pichereau, C.6
  • 26
    • 33646757738 scopus 로고    scopus 로고
    • Compound and double mutations in patients with hypertrophic cardiomyopathy: Implications for genetic testing and counselling
    • Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005; 42(10):e59.
    • (2005) J Med Genet , vol.42 , Issue.10
    • Ingles, J.1    Doolan, A.2    Chiu, C.3    Seidman, J.4    Seidman, C.5    Semsarian, C.6
  • 27
    • 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(2):182-90.
    • (2009) Circ Cardiovasc Genet , vol.2 , Issue.2 , pp. 182-190
    • Kelly, M.1    Semsarian, C.2
  • 28
    • 0028332683 scopus 로고
    • Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy
    • Nishi H, Kimura A, Harada H, Adachi K, Koga Y, Sasazuki T, et al. Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 1994; 200(1):549-56.
    • (1994) Biochem Biophys Res Commun , vol.200 , Issue.1 , pp. 549-556
    • Nishi, H.1    Kimura, A.2    Harada, H.3    Adachi, K.4    Koga, Y.5    Sasazuki, T.6
  • 29
    • 0041923834 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: Two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy
    • Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, et al. Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy. Biochem Biophys Res Commun. 2003; 309(2):391-8.
    • (2003) Biochem Biophys Res Commun , vol.309 , Issue.2 , pp. 391-398
    • Nanni, L.1    Pieroni, M.2    Chimenti, C.3    Simionati, B.4    Zimbello, R.5    Maseri, A.6
  • 30
    • 0028999347 scopus 로고
    • A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy
    • Nishi H, Kimura A, Harada H, Koga Y, Adachi K, Matsuyama K, et al. A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. Circulation. 1995; 91(12):2911-5.
    • (1995) Circulation , vol.91 , Issue.12 , pp. 2911-2915
    • Nishi, H.1    Kimura, A.2    Harada, H.3    Koga, Y.4    Adachi, K.5    Matsuyama, K.6
  • 31
    • 0031922826 scopus 로고    scopus 로고
    • A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes
    • Jeschke B, Uhl K, Weist B, Schroder D, Meitinger T, Dohlemann C, et al. A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. Hum Genet. 1998; 102(3):299-304.
    • (1998) Hum Genet , vol.102 , Issue.3 , pp. 299-304
    • Jeschke, B.1    Uhl, K.2    Weist, B.3    Schroder, D.4    Meitinger, T.5    Dohlemann, C.6
  • 32
    • 0033005768 scopus 로고    scopus 로고
    • Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy
    • Richard P, Isnard R, Carrier L, Dubourg O, Donatien Y, Mathieu B, et al. Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. J Med Genet. 1999; 36(7):542-5.
    • (1999) J Med Genet , vol.36 , Issue.7 , pp. 542-545
    • Richard, P.1    Isnard, R.2    Carrier, L.3    Dubourg, O.4    Donatien, Y.5    Mathieu, B.6
  • 33
    • 77949881591 scopus 로고    scopus 로고
    • Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations
    • Girolami F, Ho CY, Semsarian C, Baldi M, Will ML, Baldini K, et al. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol. 2010; 55(14):1444-53.
    • (2010) J Am Coll Cardiol , vol.55 , Issue.14 , pp. 1444-1453
    • Girolami, F.1    Ho, C.Y.2    Semsarian, C.3    Baldi, M.4    Will, M.L.5    Baldini, K.6
  • 34
    • 80052379858 scopus 로고    scopus 로고
    • Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure
    • Carstens N, van der Merwe L, Revera M, Heradien M, Goosen A, Brink PA, et al. Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure. J Renin Angiotensin Aldosterone Syst. 2011; 12(3):274-80.
    • (2011) J Renin Angiotensin Aldosterone Syst , vol.12 , Issue.3 , pp. 274-280
    • Carstens, N.1    van Merwe, D.L.2    Revera, M.3    Heradien, M.4    Goosen, A.5    Brink, P.A.6
  • 35
    • 77956319854 scopus 로고    scopus 로고
    • The relationship between angiotensin converting enzyme gene I/D polymorphism and QT dispersion in patients with hypertrophic cardiomyopathy
    • Kaya CT, Gurlek A, Altin T, Kilickap M, Karabulut HG, Turhan S, et al. The relationship between angiotensin converting enzyme gene I/D polymorphism and QT dispersion in patients with hypertrophic cardiomyopathy. J Renin Angiotensin Aldosterone Syst. 2010; 11(3):192-7.
    • (2010) J Renin Angiotensin Aldosterone Syst , vol.11 , Issue.3 , pp. 192-197
    • Kaya, C.T.1    Gurlek, A.2    Altin, T.3    Kilickap, M.4    Karabulut, H.G.5    Turhan, S.6
  • 36
    • 76549130485 scopus 로고    scopus 로고
    • Resistin gene promoter region polymorphism and the risk of hypertrophic cardiomyopathy in patients
    • Hussain S, Asghar M, Javed Q. Resistin gene promoter region polymorphism and the risk of hypertrophic cardiomyopathy in patients. Transl Res. 2010; 155(3):142-7.
    • (2010) Transl Res , vol.155 , Issue.3 , pp. 142-147
    • Hussain, S.1    Asghar, M.2    Javed, Q.3
  • 37
    • 67650086995 scopus 로고    scopus 로고
    • EUROGENE Heart Failure Project. A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy
    • Friedrich FW, Bausero P, Sun Y, Treszl A, Kramer E, Juhr D, et al; EUROGENE Heart Failure Project. A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy. Eur Heart J. 2009; 30(13):1648-55.
    • (2009) Eur Heart J , vol.30 , Issue.13 , pp. 1648-1655
    • Friedrich, F.W.1    Bausero, P.2    Sun, Y.3    Treszl, A.4    Kramer, E.5    Juhr, D.6
  • 38
    • 48849097749 scopus 로고    scopus 로고
    • Sex hormone receptor gene variation associated with phenotype in male hypertrophic cardiomyopathy patients
    • Lind JM, Chiu C, Ingles J, Yeates L, Humphries SE, Heather AK, et al. Sex hormone receptor gene variation associated with phenotype in male hypertrophic cardiomyopathy patients. J Mol Cell Cardiol. 2008; 45(2):217-22.
    • (2008) J Mol Cell Cardiol , vol.45 , Issue.2 , pp. 217-222
    • Lind, J.M.1    Chiu, C.2    Ingles, J.3    Yeates, L.4    Humphries, S.E.5    Heather, A.K.6
  • 39
    • 84856742598 scopus 로고    scopus 로고
    • Unequal allelic expression of wild-type and mutated beta-myosin in familial hypertrophic cardiomyopathy
    • Tripathi S, Schultz I, Becker E, Montag J, Borchert B, Francino A, et al. Unequal allelic expression of wild-type and mutated beta-myosin in familial hypertrophic cardiomyopathy. Basic Res Cardiol. 2011; 106(6):1041-55.
    • (2011) Basic Res Cardiol , vol.106 , Issue.6 , pp. 1041-1055
    • Tripathi, S.1    Schultz, I.2    Becker, E.3    Montag, J.4    Borchert, B.5    Francino, A.6
  • 40
    • 0029807438 scopus 로고    scopus 로고
    • Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathy
    • Vikstrom KL, Factor SM, Leinwand LA. Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathy. Mol Med. 1996; 2(5):556-67.
    • (1996) Mol Med , vol.2 , Issue.5 , pp. 556-567
    • Vikstrom, K.L.1    Factor, S.M.2    Leinwand, L.A.3
  • 42
    • 0032943836 scopus 로고    scopus 로고
    • Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene
    • Fatkin D, Christe ME, Aristizabal O, McConnell BK, Srinivasan S, Schoen FJ, et al. Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene. J Clin Invest. 1999; 103(1):147-53.
    • (1999) J Clin Invest , vol.103 , Issue.1 , pp. 147-153
    • Fatkin, D.1    Christe, M.E.2    Aristizabal, O.3    McConnell, B.K.4    Srinivasan, S.5    Schoen, F.J.6
  • 43
    • 77957854278 scopus 로고    scopus 로고
    • Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-beta
    • Teekakirikul P, Eminaga S, Toka O, Alcalai R, Wang L, Wakimoto H, et al. Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-beta. J Clin Invest. 2010; 120(10):3520-9.
    • (2010) J Clin Invest , vol.120 , Issue.10 , pp. 3520-3529
    • Teekakirikul, P.1    Eminaga, S.2    Toka, O.3    Alcalai, R.4    Wang, L.5    Wakimoto, H.6
  • 44
    • 0033386313 scopus 로고    scopus 로고
    • A transgenic rabbit model for human hypertrophic cardiomyopathy
    • Marian AJ, Wu Y, Lim DS, McCluggage M, Youker K, Yu QT, et al. A transgenic rabbit model for human hypertrophic cardiomyopathy. J Clin Invest. 1999; 104(12):1683-92.
    • (1999) J Clin Invest , vol.104 , Issue.12 , pp. 1683-1692
    • Marian, A.J.1    Wu, Y.2    Lim, D.S.3    McCluggage, M.4    Youker, K.5    Yu, Q.T.6
  • 45
    • 0033594889 scopus 로고    scopus 로고
    • Familial hypertrophic cardiomyopathy in maine coon cats: An animal model of human disease
    • Kittleson MD, Meurs KM, Munro MJ, Kittleson JA, Liu SK, Pion PD, et al. Familial hypertrophic cardiomyopathy in maine coon cats: an animal model of human disease. Circulation. 1999; 99(24):3172-80.
    • (1999) Circulation , vol.99 , Issue.24 , pp. 3172-3180
    • Kittleson, M.D.1    Meurs, K.M.2    Munro, M.J.3    Kittleson, J.A.4    Liu, S.K.5    Pion, P.D.6
  • 46
    • 0032189352 scopus 로고    scopus 로고
    • A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy
    • Yang Q, Sanbe A, Osinska H, Hewett TE, Klevitsky R, Robbins J. A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy. J Clin Invest. 1998; 102(7):1292-300.
    • (1998) J Clin Invest , vol.102 , Issue.7 , pp. 1292-1300
    • Yang, Q.1    Sanbe, A.2    Osinska, H.3    Hewett, T.E.4    Klevitsky, R.5    Robbins, J.6
  • 47
    • 0032749319 scopus 로고    scopus 로고
    • In vivo modeling of myosin binding protein C familial hypertrophic cardiomyopathy
    • Yang Q, Sanbe A, Osinska H, Hewett TE, Klevitsky R, Robbins J. In vivo modeling of myosin binding protein C familial hypertrophic cardiomyopathy. Circ Res. 1999; 85(9):841-7.
    • (1999) Circ Res , vol.85 , Issue.9 , pp. 841-847
    • Yang, Q.1    Sanbe, A.2    Osinska, H.3    Hewett, T.E.4    Klevitsky, R.5    Robbins, J.6
  • 48
    • 32644473851 scopus 로고    scopus 로고
    • In vivo cell biology: Following the zebrafish trend
    • Beis D, Stainier DY. In vivo cell biology: following the zebrafish trend. Trends Cell Biol. 2006; 16(2):105-12.
    • (2006) Trends Cell Biol , vol.16 , Issue.2 , pp. 105-112
    • Beis, D.1    Stainier, D.Y.2
  • 49
    • 84863388132 scopus 로고    scopus 로고
    • Zebrafish in the study of early cardiac development
    • Liu J, Stainier DY. Zebrafish in the study of early cardiac development. Circ Res. 2012; 110(6):870-4.
    • (2012) Circ Res , vol.110 , Issue.6 , pp. 870-874
    • Liu, J.1    Stainier, D.Y.2
  • 50
    • 79956110261 scopus 로고    scopus 로고
    • Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish
    • Becker JR, Deo RC, Werdich AA, Panakova D, Coy S, MacRae CA. Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish. Dis Model Mech. 2011; 4(3):400-10.
    • (2011) Dis Model Mech , vol.4 , Issue.3 , pp. 400-410
    • Becker, J.R.1    Deo, R.C.2    Werdich, A.A.3    Panakova, D.4    Coy, S.5    Macrae, C.A.6
  • 51
    • 0028967729 scopus 로고
    • Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy
    • Lankford EB, Epstein ND, Fananapazir L, Sweeney HL. Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Clin Invest. 1995; 95(3):1409-14.
    • (1995) J Clin Invest , vol.95 , Issue.3 , pp. 1409-1414
    • Lankford, E.B.1    Epstein, N.D.2    Fananapazir, L.3    Sweeney, H.L.4
  • 52
    • 0029804760 scopus 로고    scopus 로고
    • Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy: Evidence for a dominant negative action
    • Watkins H, Seidman CE, Seidman JG, Feng HS, Sweeney HL. Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy: evidence for a dominant negative action. J Clin Invest. 1996; 98(11):2456-61.
    • (1996) J Clin Invest , vol.98 , Issue.11 , pp. 2456-2461
    • Watkins, H.1    Seidman, C.E.2    Seidman, J.G.3    Feng, H.S.4    Sweeney, H.L.5
  • 53
    • 0037407012 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: A paradigm for myocardial energy depletion
    • Ashrafian H, Redwood C, Blair E, Watkins H. Hypertrophic cardiomyopathy: a paradigm for myocardial energy depletion. Trends Genet. 2003; 19(5):263-8.
    • (2003) Trends Genet , vol.19 , Issue.5 , pp. 263-268
    • Ashrafian, H.1    Redwood, C.2    Blair, E.3    Watkins, H.4
  • 54
    • 0037174918 scopus 로고    scopus 로고
    • Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy
    • Robinson P, Mirza M, Knott A, Abdulrazzak H, Willott R, Marston S, et al. Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy. J Biol Chem. 2002; 277(43):40710-6.
    • (2002) J Biol Chem , vol.277 , Issue.43 , pp. 40710-40716
    • Robinson, P.1    Mirza, M.2    Knott, A.3    Abdulrazzak, H.4    Willott, R.5    Marston, S.6
  • 55
    • 68049115750 scopus 로고    scopus 로고
    • Temporal and mutation-specific alterations in Ca2+ homeostasis differentially determine the progression of cTnT-related cardiomyopathies in murine models
    • Guinto PJ, Haim TE, Dowell-Martino CC, Sibinga N, Tardiff JC. Temporal and mutation-specific alterations in Ca2+ homeostasis differentially determine the progression of cTnT-related cardiomyopathies in murine models. Am J Physiol Heart Circ Physiol. 2009; 297(2):H614-26.
    • (2009) Am J Physiol Heart Circ Physiol , vol.297 , Issue.2
    • Guinto, P.J.1    Haim, T.E.2    Dowell-Martino, C.C.3    Sibinga, N.4    Tardiff, J.C.5
  • 57
    • 48549105342 scopus 로고    scopus 로고
    • The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils
    • Belus A, Piroddi N, Scellini B, Tesi C, Amati GD, Girolami F, et al. The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils. J Physiol. 2008; 586(Pt 15):3639-44.
    • (2008) J Physiol , vol.586 , Issue.15 , pp. 3639-3644
    • Belus, A.1    Piroddi, N.2    Scellini, B.3    Tesi, C.4    Amati, G.D.5    Girolami, F.6
  • 58
    • 82955195877 scopus 로고    scopus 로고
    • The 3-state model of muscle regulation revisited: Is a fourth state involved?
    • Lehrer SS. The 3-state model of muscle regulation revisited: is a fourth state involved? J Muscle Res Cell Motil. 2011; 32(3):203-8.
    • (2011) J Muscle Res Cell Motil , vol.32 , Issue.3 , pp. 203-208
    • Lehrer, S.S.1
  • 59
    • 84865119925 scopus 로고    scopus 로고
    • Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin
    • Ly S, Lehrer SS. Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin. Biochemistry. 2012; 51(32):6413-20.
    • (2012) Biochemistry , vol.51 , Issue.32 , pp. 6413-6420
    • Ly, S.1    Lehrer, S.S.2
  • 60
    • 0027234056 scopus 로고
    • Regulation of the interaction between actin and myosin subfragment 1: Evidence for three states of the thin filament
    • McKillop DF, Geeves MA. Regulation of the interaction between actin and myosin subfragment 1: evidence for three states of the thin filament. Biophys J. 1993; 65(2):693-701.
    • (1993) Biophys J , vol.65 , Issue.2 , pp. 693-701
    • McKillop, D.F.1    Geeves, M.A.2
  • 61
    • 34250201129 scopus 로고    scopus 로고
    • Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy
    • Kim JB, Porreca GJ, Song L, Greenway SC, Gorham JM, Church GM, et al. Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy. Science. 2007; 316(5830):1481-4.
    • (2007) Science , vol.316 , Issue.5830 , pp. 1481-1484
    • Kim, J.B.1    Porreca, G.J.2    Song, L.3    Greenway, S.C.4    Gorham, J.M.5    Church, G.M.6
  • 62
    • 28844460569 scopus 로고    scopus 로고
    • A transgenic mouse model of heart failure using inducible Galpha q
    • Fan G, Jiang YP, Lu Z, Martin DW, Kelly DJ, Zuckerman JM, et al. A transgenic mouse model of heart failure using inducible Galpha q. J Biol Chem. 2005; 280(48):40337-46.
    • (2005) J Biol Chem , vol.280 , Issue.48 , pp. 40337-40346
    • Fan, G.1    Jiang, Y.P.2    Lu, Z.3    Martin, D.W.4    Kelly, D.J.5    Zuckerman, J.M.6
  • 63
    • 78650169725 scopus 로고    scopus 로고
    • Impediments to DNA testing and cascade screening for hypertrophic cardiomyopathy and Long QT syndrome: A qualitative study of patient experiences
    • Smart A. Impediments to DNA testing and cascade screening for hypertrophic cardiomyopathy and Long QT syndrome: a qualitative study of patient experiences. J Genet Couns. 2010; 19(6):630-9.
    • (2010) J Genet Couns , vol.19 , Issue.6 , pp. 630-639
    • Smart, A.1
  • 64
    • 79959347897 scopus 로고    scopus 로고
    • Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies
    • Nherera L, Marks D, Minhas R, Thorogood M, Humphries SE. Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart. 2011; 97(14):1175-81.
    • (2011) Heart , vol.97 , Issue.14 , pp. 1175-1181
    • Nherera, L.1    Marks, D.2    Minhas, R.3    Thorogood, M.4    Humphries, S.E.5
  • 66
    • 77951112882 scopus 로고    scopus 로고
    • DNA testing for hypertrophic cardiomyopathy: A cost-effectiveness model
    • Wordsworth S, Leal J, Blair E, Legood R, Thomson K, Seller A, et al. DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model. Eur Heart J. 2010; 31(8):926-35.
    • (2010) Eur Heart J , vol.31 , Issue.8 , pp. 926-935
    • Wordsworth, S.1    Leal, J.2    Blair, E.3    Legood, R.4    Thomson, K.5    Seller, A.6
  • 67
    • 84879688303 scopus 로고    scopus 로고
    • Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families
    • Miller EM, Wang Y, Ware SM. Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families. J Genet Couns. 2012; 22(2):258-67.
    • (2012) J Genet Couns , vol.22 , Issue.2 , pp. 258-267
    • Miller, E.M.1    Wang, Y.2    Ware, S.M.3
  • 68
    • 78649373427 scopus 로고    scopus 로고
    • European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Genetic counselling and testing in cardiomyopathies: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases
    • Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, et al; European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010; 31(22):2715-26.
    • (2010) Eur Heart J , vol.31 , Issue.22 , pp. 2715-2726
    • Charron, P.1    Arad, M.2    Arbustini, E.3    Basso, C.4    Bilinska, Z.5    Elliott, P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.