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Volumn 83, Issue 6, 1998, Pages 580-593

Familial hypertrophic cardiomyopathy: From mutations to functional defects

Author keywords

Alteration in cardiac contractility; Familial hypertrophic cardiomyopathy; Genetic mutation; Mouse model; Sarcomeric protein

Indexed keywords

MYOSIN HEAVY CHAIN; TROPOMYOSIN; TROPONIN I; TROPONIN T;

EID: 0032555955     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.RES.83.6.580     Document Type: Review
Times cited : (311)

References (144)
  • 1
    • 0000024141 scopus 로고
    • Contribution à l'étude des rétrécissements de l'orifice ventriculo-aortique
    • Vulpian A. Contribution à l'étude des rétrécissements de l'orifice ventriculo-aortique. Arch Physiol. 1868;3:220-222.
    • (1868) Arch Physiol. , vol.3 , pp. 220-222
    • Vulpian, A.1
  • 3
    • 0023130164 scopus 로고
    • Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology, and therapy
    • Maron BJ, Bonow RO, Cannon RO, Leon MB. Epstein SE. Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology, and therapy. N Engl J Med. 1987;316:780-789 and 844-852.
    • (1987) N Engl J Med. , vol.316 , pp. 780-789
    • Maron, B.J.1    Bonow, R.O.2    Cannon, R.O.3    Leon, M.B.4    Epstein, S.E.5
  • 5
    • 0029083650 scopus 로고
    • Prevalence of hypertrophic cardiomyopathy in a general population of young adults: Echocardiographic analysis of 4111 subjects in the CARDIa study
    • 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. 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
  • 6
    • 0006395074 scopus 로고
    • A family with obstructive cardiomyopathy (asymmetrical hypertrophy)
    • Hollman A, Goodwin JF, Teare D, Renwick JW. A family with obstructive cardiomyopathy (asymmetrical hypertrophy). Br Heart J. 1960;22:449-456.
    • (1960) Br Heart J. , vol.22 , pp. 449-456
    • Hollman, A.1    Goodwin, J.F.2    Teare, D.3    Renwick, J.W.4
  • 9
    • 0029896830 scopus 로고    scopus 로고
    • Molecular diversity of myofibrillar proteins: Gene regulation and functional significance
    • Schiaffino S. Reggiani C. Molecular diversity of myofibrillar proteins: gene regulation and functional significance. Physiol Rev. 1996;76: 371-423.
    • (1996) Physiol Rev. , vol.76 , pp. 371-423
    • Schiaffino, S.1    Reggiani, C.2
  • 10
    • 0026360178 scopus 로고
    • 2+ sensitive tension due to partial extraction of C-protein from rat skinned cardiac myocytes and rabbit skeletal muscle fibers
    • 2+ sensitive tension due to partial extraction of C-protein from rat skinned cardiac myocytes and rabbit skeletal muscle fibers. J Gen Physiol. 1991;97: 1141-1163.
    • (1991) J Gen Physiol. , vol.97 , pp. 1141-1163
    • Hofmann, P.A.1    Hartzell, H.C.2    Moss, R.L.3
  • 11
    • 0029812703 scopus 로고    scopus 로고
    • Alteration of myosin cross bridges by phosphorylation of myosin-binding protein C in cardiac muscle
    • Weisberg A, Winegrad S. Alteration of myosin cross bridges by phosphorylation of myosin-binding protein C in cardiac muscle. Proc Natl Acad Sci U S A. 1996;93:8999-9003.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 8999-9003
    • Weisberg, A.1    Winegrad, S.2
  • 12
    • 0021259458 scopus 로고
    • Localization of C-protein isoforms in chicken skeletal muscle: Ultrastructure detection using monoclonal antibodies
    • Dennis JE, Shimizu T, Reinach FC, Fischman DA. Localization of C-protein isoforms in chicken skeletal muscle: ultrastructure detection using monoclonal antibodies. J Cell Biol. 1984;98:1514-1522.
    • (1984) J Cell Biol. , vol.98 , pp. 1514-1522
    • Dennis, J.E.1    Shimizu, T.2    Reinach, F.C.3    Fischman, D.A.4
  • 13
    • 0030892526 scopus 로고    scopus 로고
    • Transgenic remodeling of the regulatory myosin light chains in the mammalian heart
    • Gulick J, Hewett TE, Klevitsky R, Buck SH, Moss RL, Robbins J. Transgenic remodeling of the regulatory myosin light chains in the mammalian heart. Circ Res. 1997;80:655-664.
    • (1997) Circ Res. , vol.80 , pp. 655-664
    • Gulick, J.1    Hewett, T.E.2    Klevitsky, R.3    Buck, S.H.4    Moss, R.L.5    Robbins, J.6
  • 15
    • 0021273032 scopus 로고
    • Myosin types in the human heart: An immunofluorescence study of normal and hypertrophied atrial and ventricular myocardium
    • Gorza L, Mercadier JJ, Schwartz K, Thornell LE, Sartore S, Schiaffino S. Myosin types in the human heart: an immunofluorescence study of normal and hypertrophied atrial and ventricular myocardium. Circ Res. 1984;54:694-702.
    • (1984) Circ Res. , vol.54 , pp. 694-702
    • Gorza, L.1    Mercadier, J.J.2    Schwartz, K.3    Thornell, L.E.4    Sartore, S.5    Schiaffino, S.6
  • 20
    • 0031031693 scopus 로고    scopus 로고
    • The motor domain and the regulatory domain of myosin solely dictate enzymatic activity and phosphorylation-dependent regulation, respectively
    • Sata M, Stafford WF, Mabuchi K, Ikebe M. The motor domain and the regulatory domain of myosin solely dictate enzymatic activity and phosphorylation-dependent regulation, respectively. Proc Natl Acad Sci U S A. 1997;94:91-96.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 91-96
    • Sata, M.1    Stafford, W.F.2    Mabuchi, K.3    Ikebe, M.4
  • 21
    • 0026849915 scopus 로고
    • Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH7)
    • Fougerousse F, Dufour C, Roudaut C, Beckmann JS. Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH7). Hum Mol Genet. 1992;1:64.
    • (1992) Hum Mol Genet. , vol.1 , pp. 64
    • Fougerousse, F.1    Dufour, C.2    Roudaut, C.3    Beckmann, J.S.4
  • 24
    • 0025164036 scopus 로고
    • Molecular basis for familial hypertrophic cardiomyopathy: An α/β cardiac myosin heavy chain hybrid gene
    • Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg HP, Seidman JG, Seidman CE. Molecular basis for familial hypertrophic cardiomyopathy: an α/β cardiac myosin heavy chain hybrid gene. Cell. 1990;62: 991-998.
    • (1990) Cell , vol.62 , pp. 991-998
    • Tanigawa, G.1    Jarcho, J.A.2    Kass, S.3    Solomon, S.D.4    Vosberg, H.P.5    Seidman, J.G.6    Seidman, C.E.7
  • 25
    • 0026629472 scopus 로고
    • Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the β-myosin heavy chain gene: A 908 Leu>Val mutation and a 403 Arg>Gln mutation
    • Epstein ND, Cohn GM, Cyran F, Fananapazir L. Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the β-myosin heavy chain gene: a 908 Leu>Val mutation and a 403 Arg>Gln mutation. Circulation. 1992;86:345-352.
    • (1992) Circulation , vol.86 , pp. 345-352
    • Epstein, N.D.1    Cohn, G.M.2    Cyran, F.3    Fananapazir, L.4
  • 26
    • 12644271810 scopus 로고
    • Central core disease is present in hypertrophic cardiomyopathy patients with distinct mutations in the beta myosin heavy chain gene
    • Fananapazir L, Dalakas M, Cyran F, Cohn G, Epstein N. Central core disease is present in hypertrophic cardiomyopathy patients with distinct mutations in the beta myosin heavy chain gene [abstract]. Circulation. 1992;86(suppl I):I-229.
    • (1992) Circulation. , vol.86 , Issue.1 SUPPL.
    • Fananapazir, L.1    Dalakas, M.2    Cyran, F.3    Cohn, G.4    Epstein, N.5
  • 28
    • 0027070276 scopus 로고
    • Detection of a new mutation in the β-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy
    • Marian AJ, Yu QT, Mares A, Hill R, Roberts R, Perryman MB. Detection of a new mutation in the β-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy. J Clin Invest. 1992;90: 2156-2165.
    • (1992) J Clin Invest. , vol.90 , pp. 2156-2165
    • Marian, A.J.1    Yu, Q.T.2    Mares, A.3    Hill, R.4    Roberts, R.5    Perryman, M.B.6
  • 29
    • 0026463002 scopus 로고
    • Novel missense mutation in cardiac β-myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy
    • Nishi H, Kimura A, Harada H, Toshima H, Sasazaki T. Novel missense mutation in cardiac β-myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 1992;188:379-387.
    • (1992) Biochem Biophys Res Commun. , vol.188 , pp. 379-387
    • Nishi, H.1    Kimura, A.2    Harada, H.3    Toshima, H.4    Sasazaki, T.5
  • 30
    • 0026573969 scopus 로고
    • Characteristic and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    • Watkins H, Rosenzweig T, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG. Characteristic and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992;326:1106-1114.
    • (1992) N Engl J Med. , vol.326 , pp. 1106-1114
    • Watkins, H.1    Rosenzweig, T.2    Hwang, D.S.3    Levi, T.4    McKenna, W.5    Seidman, C.E.6    Seidman, J.G.7
  • 31
    • 0027302431 scopus 로고
    • Skeletal muscle expression and abnormal function of β-myosin in hypertrophic cardiomyopathy
    • Cuda G, Fananapazir L, Zhu WS, Seller JR, Epstein NE. Skeletal muscle expression and abnormal function of β-myosin in hypertrophic cardiomyopathy. J Clin Invest. 1993;91:2861-2865.
    • (1993) J Clin Invest. , vol.91 , pp. 2861-2865
    • Cuda, G.1    Fananapazir, L.2    Zhu, W.S.3    Seller, J.R.4    Epstein, N.E.5
  • 33
    • 0027221634 scopus 로고
    • Missense mutations in the β myosin heavy chain gene cause central core disease in hypertrophic cardiomyopathy
    • Fananapazir L, Dalakas MD, Cyran F, Cohn G, Epstein ND. Missense mutations in the β myosin heavy chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 1993;90: 3993-3997.
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 3993-3997
    • Fananapazir, L.1    Dalakas, M.D.2    Cyran, F.3    Cohn, G.4    Epstein, N.D.5
  • 34
    • 0027320898 scopus 로고
    • A missense mutation of cardiac β-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families
    • Harada H, Kimura A, Nishi H, Sasazuki Y, Toshima H. A missense mutation of cardiac β-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families. Biochem Biophys Res Commun. 1993;194:791-798.
    • (1993) Biochem Biophys Res Commun. , vol.194 , pp. 791-798
    • Harada, H.1    Kimura, A.2    Nishi, H.3    Sasazuki, Y.4    Toshima, H.5
  • 35
    • 25744452088 scopus 로고
    • Screening and identification of known and novel mutations in hypertrophic cardiomyopathies based on molecular scanning with chemical cleavage
    • Mares A, Greve G, Tapscott T, Roberts R. Screening and identification of known and novel mutations in hypertrophic cardiomyopathies based on molecular scanning with chemical cleavage [abstract]. Circulation. 1993;88(suppl I):I-572.
    • (1993) Circulation. , vol.88 , Issue.1 SUPPL.
    • Mares, A.1    Greve, G.2    Tapscott, T.3    Roberts, R.4
  • 36
    • 0344725006 scopus 로고
    • Two distinct mutations of cardiac β myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy
    • Nishi H, Kimura A, Matsumyama K, Koga Y, Sasazuki T, Toshima H. Two distinct mutations of cardiac β myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy [abstract]. Circulation. 1993;88(suppl I):I-343.
    • (1993) Circulation. , vol.88 , Issue.1 SUPPL.
    • Nishi, H.1    Kimura, A.2    Matsumyama, K.3    Koga, Y.4    Sasazuki, T.5    Toshima, H.6
  • 38
    • 0028306518 scopus 로고
    • A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy
    • Consevage M, Salada GC, Baylen BG, Ladda RL, Rogan PK. A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. Hum Mol Genet. 1994;3:1025-1026.
    • (1994) Hum Mol Genet. , vol.3 , pp. 1025-1026
    • Consevage, M.1    Salada, G.C.2    Baylen, B.G.3    Ladda, R.L.4    Rogan, P.K.5
  • 40
    • 25744468053 scopus 로고
    • Identification of β-myosin heavy chain gene mutations in 31 athletes with hypertrophic cardiomyopathy
    • Fananapazir L, Winkler J, Satorius O, Epstein N. Identification of β-myosin heavy chain gene mutations in 31 athletes with hypertrophic cardiomyopathy [abstract]. Circulation. 1994;90(suppl I):I-442.
    • (1994) Circulation , vol.90 , Issue.1 SUPPL.
    • Fananapazir, L.1    Winkler, J.2    Satorius, O.3    Epstein, N.4
  • 42
    • 0028332683 scopus 로고
    • Possible gene dose effect of a mutant cardiac β-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy
    • Nishi H, Kimura A, Harada H, Adachi K, Koga Y, Sasazuki T, Toshima H. Possible gene dose effect of a mutant cardiac β-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 1994;200:549-556.
    • (1994) Biochem Biophys Res Commun. , vol.200 , pp. 549-556
    • Nishi, H.1    Kimura, A.2    Harada, H.3    Adachi, K.4    Koga, Y.5    Sasazuki, T.6    Toshima, H.7
  • 43
    • 85038554141 scopus 로고
    • A novel mutation of myosin heavy chain gene from cardiac β to foetal skeletal type in a family with HCM, DCM and sudden death: A report and discussion
    • Toyo-oka T, Takazawa K, Kimura N, Inukai M, Wang YP. A novel mutation of myosin heavy chain gene from cardiac β to foetal skeletal type in a family with HCM, DCM and sudden death: a report and discussion [abstract]. Eur Heart J. 1994;15(suppl):334.
    • (1994) Eur Heart J. , vol.15 , Issue.SUPPL. , pp. 334
    • Toyo-oka, T.1    Takazawa, K.2    Kimura, N.3    Inukai, M.4    Wang, Y.P.5
  • 45
    • 0029144056 scopus 로고
    • Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy
    • Moolman JC, Brink PA, Corfield VA. Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. Hum Mutat. 1995;6:197-198.
    • (1995) Hum Mutat. , vol.6 , pp. 197-198
    • Moolman, J.C.1    Brink, P.A.2    Corfield, V.A.3
  • 48
    • 0029024879 scopus 로고
    • Structural interpretation of the mutations in the β-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy
    • Rayment I, Holden HM, Sellers JR, Fananapazir L, Epstein ND. Structural interpretation of the mutations in the β-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 1995;92:3864-3868.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 3864-3868
    • Rayment, I.1    Holden, H.M.2    Sellers, J.R.3    Fananapazir, L.4    Epstein, N.D.5
  • 49
    • 0030249463 scopus 로고    scopus 로고
    • Identification of a novel missense mutation in the cardiac β-myosin chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy
    • Kuang SQ, Yu JD, Lu L, He LM, Gong LS, Chen SJ, Chen Z. Identification of a novel missense mutation in the cardiac β-myosin chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy. J Mol Cell Cardiol. 1996;28:1879-1883.
    • (1996) J Mol Cell Cardiol. , vol.28 , pp. 1879-1883
    • Kuang, S.Q.1    Yu, J.D.2    Lu, L.3    He, L.M.4    Gong, L.S.5    Chen, S.J.6    Chen, Z.7
  • 50
    • 84894406783 scopus 로고    scopus 로고
    • A novel β-myosin mutation in a large family suffering from dilated and hypertrophic cardiomyopathy
    • Rottbauer W, Grünig E, Brown B, Zehelein J, Schelfold T. A novel β-myosin mutation in a large family suffering from dilated and hypertrophic cardiomyopathy [abstract]. Circulation. 1996;94(suppl I):I-162.
    • (1996) Circulation , vol.94 , Issue.1 SUPPL.
    • Rottbauer, W.1    Grünig, E.2    Brown, B.3    Zehelein, J.4    Schelfold, T.5
  • 54
  • 55
    • 0018816959 scopus 로고
    • Structure and evolution of calcium-modulated proteins
    • Kretsinger RH. Structure and evolution of calcium-modulated proteins. CRC Crit Rev Biochem. 1980;8:119-174.
    • (1980) CRC Crit Rev Biochem. , vol.8 , pp. 119-174
    • Kretsinger, R.H.1
  • 56
    • 0028558668 scopus 로고
    • Role of myosin light chains
    • Trybus KM. Role of myosin light chains. J Muscle Res Cell Motil. 1994;15:587-594.
    • (1994) J Muscle Res Cell Motil. , vol.15 , pp. 587-594
    • Trybus, K.M.1
  • 57
    • 0015935207 scopus 로고
    • The light chains of scallop myosin as regulatory subunits
    • Szent-Gyorgyi A, Szentkiralyi E. The light chains of scallop myosin as regulatory subunits. J Mol Biol. 1973;74:179-204.
    • (1973) J Mol Biol. , vol.74 , pp. 179-204
    • Szent-Gyorgyi, A.1    Szentkiralyi, E.2
  • 58
    • 0027426228 scopus 로고
    • Skeletal muscle myosin light chains are essential for physiological speeds of shortening
    • Lowey S, Waller G, Trybus K. Skeletal muscle myosin light chains are essential for physiological speeds of shortening. Nature. 1993;365: 454-456.
    • (1993) Nature , vol.365 , pp. 454-456
    • Lowey, S.1    Waller, G.2    Trybus, K.3
  • 60
    • 0028955955 scopus 로고
    • Myosin light chain-actin interaction regulates cardiac contractility
    • Morano I, Ritter O, Bonz A, Timek T, Vahl C, Michel G. Myosin light chain-actin interaction regulates cardiac contractility. Circ Res. 1995; 76:720-725.
    • (1995) Circ Res. , vol.76 , pp. 720-725
    • Morano, I.1    Ritter, O.2    Bonz, A.3    Timek, T.4    Vahl, C.5    Michel, G.6
  • 61
    • 0029861093 scopus 로고    scopus 로고
    • An essential myosin light chain peptide induces supramaximal stimulation of cardiac myofibrillar ATPase activity
    • Rarick HM, Opgenorth TJ, von Geldern TW, Wu-Wong JR, Solaro RJ. An essential myosin light chain peptide induces supramaximal stimulation of cardiac myofibrillar ATPase activity. J Biol Chem. 1996;271: 27039-27043.
    • (1996) J Biol Chem. , vol.271 , pp. 27039-27043
    • Rarick, H.M.1    Opgenorth, T.J.2    Von Geldern, T.W.3    Wu-Wong, J.R.4    Solaro, R.J.5
  • 62
    • 0024561485 scopus 로고
    • Human ventricular/slow twitch myosin alkali light chain gene: Characterization, sequence, and chromosomal location
    • Fodor WL, Darras B, Seharaseyon J, Falkenthal S, Francke U, Vanin EF. Human ventricular/slow twitch myosin alkali light chain gene: characterization, sequence, and chromosomal location. J Biol Chem. 1989;264:2143-2149.
    • (1989) J Biol Chem. , vol.264 , pp. 2143-2149
    • Fodor, W.L.1    Darras, B.2    Seharaseyon, J.3    Falkenthal, S.4    Francke, U.5    Vanin, E.F.6
  • 64
    • 0015056430 scopus 로고
    • Light chains of myosins from white, red, and cardiac muscles
    • Sarkar S, Sreter FA, Gergely J. Light chains of myosins from white, red, and cardiac muscles. Proc Natl Acad Sci U S A. 1971;68:946-950.
    • (1971) Proc Natl Acad Sci U S A , vol.68 , pp. 946-950
    • Sarkar, S.1    Sreter, F.A.2    Gergely, J.3
  • 65
    • 0027300234 scopus 로고
    • Myosin light chains phosphorylation in striated muscle: Regulation and function
    • Sweeney H, Bowman B, Stull J. Myosin light chains phosphorylation in striated muscle: regulation and function. Am J Physiol. 1993;264: C1085-C1095.
    • (1993) Am J Physiol. , vol.264
    • Sweeney, H.1    Bowman, B.2    Stull, J.3
  • 67
    • 0026742032 scopus 로고
    • Localization of the gene encoding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23q24.3
    • Macera MJ, Szabo P, Wadgaonkar R, Siddiqui MAQ, Verma RS. Localization of the gene encoding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23q24.3. Genomics. 1992;13: 765-772.
    • (1992) Genomics. , vol.13 , pp. 765-772
    • Macera, M.J.1    Szabo, P.2    Wadgaonkar, R.3    Siddiqui, M.A.Q.4    Verma, R.S.5
  • 69
    • 0026085987 scopus 로고
    • Calcium binding induces conformational changes in muscle regulatory proteins
    • da Silva AC, Reinach FC. Calcium binding induces conformational changes in muscle regulatory proteins. Trends Biochem Sci. 1991;16: 53-57.
    • (1991) Trends Biochem Sci. , vol.16 , pp. 53-57
    • Da Silva, A.C.1    Reinach, F.C.2
  • 71
    • 0028969444 scopus 로고
    • Human cardiac troponin T: Cloning and expression of new isoforms in the normal and failing heart
    • Mesnard L, Logeart D, Taviaux S, Diriong S, Mercadier JJ, Samson F. Human cardiac troponin T: cloning and expression of new isoforms in the normal and failing heart. Circ Res. 1995;76:687-692.
    • (1995) Circ Res. , vol.76 , pp. 687-692
    • Mesnard, L.1    Logeart, D.2    Taviaux, S.3    Diriong, S.4    Mercadier, J.J.5    Samson, F.6
  • 72
    • 0028792519 scopus 로고
    • Molecular cloning of human cardiac troponin T isoforms: Expression in developing and failing heart
    • Townsend P, Barton P, Yacoub M, Farza H. Molecular cloning of human cardiac troponin T isoforms: expression in developing and failing heart. J Mol Cell Cardiol. 1995;27:2223-2236.
    • (1995) J Mol Cell Cardiol. , vol.27 , pp. 2223-2236
    • Townsend, P.1    Barton, P.2    Yacoub, M.3    Farza, H.4
  • 74
    • 0026453190 scopus 로고
    • Complete nucleotide sequence and structural organization of rat cardiac troponin T gene: A single gene generates embryonic and adult isoforms via developmentally regulated alternative splicing
    • Jin JP, Huang QQ, Yen HI, Lin JJC. Complete nucleotide sequence and structural organization of rat cardiac troponin T gene: a single gene generates embryonic and adult isoforms via developmentally regulated alternative splicing. J Mol Biol. 1992;227:1269-1276.
    • (1992) J Mol Biol. , vol.227 , pp. 1269-1276
    • Jin, J.P.1    Huang, Q.Q.2    Yen, H.I.3    Lin, J.J.C.4
  • 75
    • 0028178083 scopus 로고
    • α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
    • Thierfelder L, Watkins H, MacRae C, Limas R, McKenna W, Vosberg HP, Seidman JC, Seidman CE. α-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    Limas, R.4    McKenna, W.5    Vosberg, H.P.6    Seidman, J.C.7    Seidman, C.E.8
  • 77
    • 0023071735 scopus 로고
    • Structural aspects of troponin-tropomyosin regulation of skeletal muscle contraction
    • Zot AS, Potter JD. Structural aspects of troponin-tropomyosin regulation of skeletal muscle contraction. Annu Rev Biophys Biophys Chem. 1987; 16:535-559.
    • (1987) Annu Rev Biophys Biophys Chem. , vol.16 , pp. 535-559
    • Zot, A.S.1    Potter, J.D.2
  • 81
    • 0025935299 scopus 로고
    • Troponin I isoform expression in human heart
    • Hunkeler NM, Kullman J, Murphy AM. Troponin I isoform expression in human heart. Circ Res. 1991;69:1409-1414.
    • (1991) Circ Res. , vol.69 , pp. 1409-1414
    • Hunkeler, N.M.1    Kullman, J.2    Murphy, A.M.3
  • 82
  • 83
    • 0030201116 scopus 로고    scopus 로고
    • Isolation and characterization of the human cardiac troponin I gene (TNNI3)
    • Bhavsar PK, Brand NJ, Yacoub MH, Barton PJR. Isolation and characterization of the human cardiac troponin I gene (TNNI3). Genomics. 1996;35:11-23.
    • (1996) Genomics , vol.35 , pp. 11-23
    • Bhavsar, P.K.1    Brand, N.J.2    Yacoub, M.H.3    Barton, P.J.R.4
  • 85
    • 0029920689 scopus 로고    scopus 로고
    • Altered interactions among thin filament proteins modulate cardiac function
    • Solaro RJ, Van Eyk J. Altered interactions among thin filament proteins modulate cardiac function. J Mol Cell Cardiol. 1996;28:217-230.
    • (1996) J Mol Cell Cardiol. , vol.28 , pp. 217-230
    • Solaro, R.J.1    Van Eyk, J.2
  • 87
    • 0026218642 scopus 로고
    • The molecular basis for tropomyosin isoform diversity
    • Lees-Miller JP, Helfman DM. The molecular basis for tropomyosin isoform diversity. Bioessays. 1991;13:429-437.
    • (1991) Bioessays , vol.13 , pp. 429-437
    • Lees-Miller, J.P.1    Helfman, D.M.2
  • 88
    • 0028888767 scopus 로고
    • Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization
    • Eyre H, Akkari PA, Wilton SD, Callen DC, Baker E, Laing NG. Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization. Cytogenet Cell Genet. 1995;69:15-17.
    • (1995) Cytogenet Cell Genet. , vol.69 , pp. 15-17
    • Eyre, H.1    Akkari, P.A.2    Wilton, S.D.3    Callen, D.C.4    Baker, E.5    Laing, N.G.6
  • 89
    • 0029164976 scopus 로고
    • Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy
    • Nakajima-Taniguchi C, Matsui H, Nagata S, Kishimoto T, Yamauchi-Takihara K. Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy. J Mol Cell Cardiol. 1995;27:2053-2058.
    • (1995) J Mol Cell Cardiol. , vol.27 , pp. 2053-2058
    • Nakajima-Taniguchi, C.1    Matsui, H.2    Nagata, S.3    Kishimoto, T.4    Yamauchi-Takihara, K.5
  • 93
    • 0029029027 scopus 로고
    • Phosphorylation switches specific for the cardiac isoform of myosin binding protein C: A modulator of cardiac contraction?
    • Gautel M, Zuffardi O, Freiburg A, Labeit S. Phosphorylation switches specific for the cardiac isoform of myosin binding protein C: a modulator of cardiac contraction? EMBO J. 1995;14:1952-1960.
    • (1995) EMBO J. , vol.14 , pp. 1952-1960
    • Gautel, M.1    Zuffardi, O.2    Freiburg, A.3    Labeit, S.4
  • 95
    • 0031882122 scopus 로고    scopus 로고
    • Cardiac myosin binding protein C gene is specifically expressed in heart during murine and human development
    • Fougerousse F, Delezoide AL, Fiszman MY, Schwartz K, Beckmann JS, Carrier L. Cardiac myosin binding protein C gene is specifically expressed in heart during murine and human development. Circ Res. 1998;82:130-133.
    • (1998) Circ Res. , vol.82 , pp. 130-133
    • Fougerousse, F.1    Delezoide, A.L.2    Fiszman, M.Y.3    Schwartz, K.4    Beckmann, J.S.5    Carrier, L.6
  • 96
    • 0345131725 scopus 로고    scopus 로고
    • Isoform transitions of the myosin-binding protein C family in developing human and mouse muscles: Lack of isoform transcomplementation in cardiac muscle
    • Gautel M, Fürst DO, Cocco A, Schiaffino S. Isoform transitions of the myosin-binding protein C family in developing human and mouse muscles: lack of isoform transcomplementation in cardiac muscle. Circ Res. 1998;82:124-129.
    • (1998) Circ Res. , vol.82 , pp. 124-129
    • Gautel, M.1    Fürst, D.O.2    Cocco, A.3    Schiaffino, S.4
  • 97
    • 0022335214 scopus 로고
    • Heart C-protein is transiently expressed during skeletal muscle development in the embryo, but persists in cultured myogenic cells
    • Bähler M, Moser H, Eppenberger HM, Walliman T. Heart C-protein is transiently expressed during skeletal muscle development in the embryo, but persists in cultured myogenic cells. Dev Biol. 1985;112:345-352.
    • (1985) Dev Biol. , vol.112 , pp. 345-352
    • Bähler, M.1    Moser, H.2    Eppenberger, H.M.3    Walliman, T.4
  • 98
    • 0026776004 scopus 로고
    • Mammalian skeletal muscle C-protein: Purification from bovine muscle, binding to titin and the characterization of a full-length cDNA
    • Fürst DO, Vinkemeyer U, Weber K. Mammalian skeletal muscle C-protein: purification from bovine muscle, binding to titin and the characterization of a full-length cDNA. J Cell Sci. 1992;102:769-778.
    • (1992) J Cell Sci. , vol.102 , pp. 769-778
    • Fürst, D.O.1    Vinkemeyer, U.2    Weber, K.3
  • 99
    • 0030052266 scopus 로고    scopus 로고
    • A molecular map of the interactions between titin and myosin-binding protein C: Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy
    • Freiburg A, Gautel M. A molecular map of the interactions between titin and myosin-binding protein C: implications for sarcomeric assembly in familial hypertrophic cardiomyopathy. Eur J Biochem. 1996;235: 317-326.
    • (1996) Eur J Biochem. , vol.235 , pp. 317-326
    • Freiburg, A.1    Gautel, M.2
  • 101
    • 0030852878 scopus 로고    scopus 로고
    • Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy: Characterization of cardiac transcript and protein
    • Rottbauer W, Gautel M, Zehelein J, Labeit S, Franz WM, Fischer C, Vollrath B, Mall G, Dietz R, Kübler W, Katus HA. Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy: characterization of cardiac transcript and protein. J Clin Invest. 1997;100:475-482.
    • (1997) J Clin Invest. , vol.100 , pp. 475-482
    • Rottbauer, W.1    Gautel, M.2    Zehelein, J.3    Labeit, S.4    Franz, W.M.5    Fischer, C.6    Vollrath, B.7    Mall, G.8    Dietz, R.9    Kübler, W.10    Katus, H.A.11
  • 103
    • 0032011430 scopus 로고    scopus 로고
    • Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy
    • Moolman-Smook JC, Mayosi B, Brink P, Corfield VA. Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy. J Med Genet. 1998;35:253-254.
    • (1998) J Med Genet. , vol.35 , pp. 253-254
    • Moolman-Smook, J.C.1    Mayosi, B.2    Brink, P.3    Corfield, V.A.4
  • 105
    • 0027980111 scopus 로고
    • Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction
    • Sweeney HL, Straceski AJ, Leinwand LA, Tikunov BA, Faust L. Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction. J Biol Chem. 1994;269:1603-1605.
    • (1994) J Biol Chem. , vol.269 , pp. 1603-1605
    • Sweeney, H.L.1    Straceski, A.J.2    Leinwand, L.A.3    Tikunov, B.A.4    Faust, L.5
  • 106
    • 0031883848 scopus 로고    scopus 로고
    • A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity
    • Bottinelli R, Coviello DA, Redwood CS, Pellegrino MA, Maron BJ, Spirito P, Watkins H, Reggiani C. A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity. Circ Res. 1998;82:106-115.
    • (1998) Circ Res. , vol.82 , pp. 106-115
    • Bottinelli, R.1    Coviello, D.A.2    Redwood, C.S.3    Pellegrino, M.A.4    Maron, B.J.5    Spirito, P.6    Watkins, H.7    Reggiani, C.8
  • 107
    • 0024097541 scopus 로고
    • Myosin heavy-chain mutations that disrupt caenorhabditis elegans thick filament assembly
    • Bejsovec A, Anderson P. Myosin heavy-chain mutations that disrupt caenorhabditis elegans thick filament assembly. Genes Dev. 1988;2: 1307-1317.
    • (1988) Genes Dev. , vol.2 , pp. 1307-1317
    • Bejsovec, A.1    Anderson, P.2
  • 108
    • 0025162268 scopus 로고
    • Functions of the myosin ATP and actin binding sites are required for C. elegans thick filament assembly
    • Bejsovec A, Anderson P. Functions of the myosin ATP and actin binding sites are required for C. elegans thick filament assembly. Cell. 1990;60:133-140.
    • (1990) Cell , vol.60 , pp. 133-140
    • Bejsovec, A.1    Anderson, P.2
  • 109
    • 0024617347 scopus 로고
    • Genetic dissection of Drosophila myofibril formation: Effects of actin and myosin heavy chain null alleles
    • Beall C, Sepanski MA, Fyrberg EA. Genetic dissection of Drosophila myofibril formation: effects of actin and myosin heavy chain null alleles. Genes Dev. 1989;3:131-140.
    • (1989) Genes Dev. , vol.3 , pp. 131-140
    • Beall, C.1    Sepanski, M.A.2    Fyrberg, E.A.3
  • 111
    • 0029804760 scopus 로고    scopus 로고
    • Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy
    • Watkins H, Seidman CE, Seidman JG, Feng HS, Sweeney HL. Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. J Clin Invest. 1996;98: 2456-2461.
    • (1996) J Clin Invest. , vol.98 , pp. 2456-2461
    • Watkins, H.1    Seidman, C.E.2    Seidman, J.G.3    Feng, H.S.4    Sweeney, H.L.5
  • 113
    • 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;2:556-567.
    • (1996) Mol Med. , vol.2 , pp. 556-567
    • Vikstrom, K.L.1    Factor, S.M.2    Leinwand, L.A.3
  • 115
    • 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;95:1409-1414.
    • (1995) J Clin Invest. , vol.95 , pp. 1409-1414
    • Lankford, E.B.1    Epstein, N.D.2    Fananapazir, L.3    Sweeney, H.L.4
  • 116
    • 0030976860 scopus 로고    scopus 로고
    • The in vitro motility activity of β-cardiac myosin depends on the nature of the β-myosin heavy chain gene mutation in hypertrophic cardiomyopathy
    • Cuda G, Fananapazir L, Epstein ND, Sellers JR. The in vitro motility activity of β-cardiac myosin depends on the nature of the β-myosin heavy chain gene mutation in hypertrophic cardiomyopathy. J Muscle Res Cell Motil. 1997;18:275-283.
    • (1997) J Muscle Res Cell Motil. , vol.18 , pp. 275-283
    • Cuda, G.1    Fananapazir, L.2    Epstein, N.D.3    Sellers, J.R.4
  • 117
    • 0030611676 scopus 로고    scopus 로고
    • 92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility
    • 92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility. Circ Res. 1997;81:76-85.
    • (1997) Circ Res. , vol.81 , pp. 76-85
    • Marian, A.J.1    Zhao, G.2    Seta, Y.3    Roberts, R.4    Yu, Q.5
  • 118
    • 0029029473 scopus 로고
    • Expression of a mutation causing hypertrophic cardiomyopathy disrupts sarcomere assembly in adult feline cardiac myocytes
    • Marian AJ, Yu Q-T, Mann DL, Graham FL, Roberts R. Expression of a mutation causing hypertrophic cardiomyopathy disrupts sarcomere assembly in adult feline cardiac myocytes. Circ Res. 1995;77:98-106.
    • (1995) Circ Res. , vol.77 , pp. 98-106
    • Marian, A.J.1    Yu, Q.-T.2    Mann, D.L.3    Graham, F.L.4    Roberts, R.5
  • 119
    • 0030958086 scopus 로고    scopus 로고
    • Point mutations in human β cardiac myosin heavy chain have differential effects on sarcomeric structure and assembly: An ATP binding site change disrupts both thick and thin filaments, whereas hypertrophic cardiomyopathy mutations display normal assembly
    • Becker KD, Gottshall KR, Hickey R, Perriard JC, Chien KR. Point mutations in human β cardiac myosin heavy chain have differential effects on sarcomeric structure and assembly: an ATP binding site change disrupts both thick and thin filaments, whereas hypertrophic cardiomyopathy mutations display normal assembly. J Cell Biol. 1997; 137:131-140.
    • (1997) J Cell Biol. , vol.137 , pp. 131-140
    • Becker, K.D.1    Gottshall, K.R.2    Hickey, R.3    Perriard, J.C.4    Chien, K.R.5
  • 120
    • 0025604603 scopus 로고
    • Drosophila melanogaster troponin-T mutations engender three distinct syndromes of myofibrillar abnormalities
    • Fyrberg E, Fyrberg CC, Beall C, Saville DL. Drosophila melanogaster troponin-T mutations engender three distinct syndromes of myofibrillar abnormalities. J Mol Biol. 1990;216:657-675.
    • (1990) J Mol Biol. , vol.216 , pp. 657-675
    • Fyrberg, E.1    Fyrberg, C.C.2    Beall, C.3    Saville, D.L.4
  • 121
    • 0029993918 scopus 로고    scopus 로고
    • Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy. J
    • Lin D, Bobkova A, Homsher E, Tobacman LS. Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy. J Clin Invest. 1996;97:2842-2848.
    • (1996) Clin Invest. , vol.97 , pp. 2842-2848
    • Lin, D.1    Bobkova, A.2    Homsher, E.3    Tobacman, L.S.4
  • 124
    • 0030899032 scopus 로고    scopus 로고
    • Characterization of mutant myosins of dictostelium discoideum equivalent to human familial hypertrophic mutants: Molecular force level of mutant myosins may have prognostic implication
    • Fujita H, Sugiura S, Momomura S, Omata M, Sugi H, Sutoh K. Characterization of mutant myosins of dictostelium discoideum equivalent to human familial hypertrophic mutants: molecular force level of mutant myosins may have prognostic implication. J Clin Invest. 1997;99: 1010-1015.
    • (1997) J Clin Invest. , vol.99 , pp. 1010-1015
    • Fujita, H.1    Sugiura, S.2    Momomura, S.3    Omata, M.4    Sugi, H.5    Sutoh, K.6
  • 125
    • 0028926032 scopus 로고
    • Impairment of muscle function caused by mutations of phosphorylation sites in myosin regulatory light chain
    • Tohtong R, Yamashima H, Graham M, Haeberle J, Simcox A, Maughan D. Impairment of muscle function caused by mutations of phosphorylation sites in myosin regulatory light chain. Nature. 1995;374: 650-653.
    • (1995) Nature , vol.374 , pp. 650-653
    • Tohtong, R.1    Yamashima, H.2    Graham, M.3    Haeberle, J.4    Simcox, A.5    Maughan, D.6
  • 126
    • 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
  • 127
    • 0028140230 scopus 로고
    • Genotype-phenotype correlations in hypertrophic cardiomyopathy: Insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain mutations
    • Fananapazir L, Epstein ND. Genotype-phenotype correlations in hypertrophic cardiomyopathy: insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain mutations. Circulation. 1994;89:22-32.
    • (1994) Circulation , vol.89 , pp. 22-32
    • Fananapazir, L.1    Epstein, N.D.2
  • 130
    • 0027425610 scopus 로고
    • Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death
    • Marian AJ, 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
  • 134
    • 0015914247 scopus 로고
    • Familial prevalence and genetic transmission of idiopathic subaortic stenosis
    • Clark CE, Henry WL, Epstein SE. Familial prevalence and genetic transmission of idiopathic subaortic stenosis. N Engl J Med. 1973;289: 709-714.
    • (1973) N Engl J Med. , vol.289 , pp. 709-714
    • Clark, C.E.1    Henry, W.L.2    Epstein, S.E.3
  • 135
    • 0021346026 scopus 로고
    • Patterns of inheritance in hypertrophic cardiomyopathy: Assessment by M-mode and two-dimensional echocardiography
    • Maron BJ, Nichols PF, Pickle LW, Wesley YE, Mulvihill JJ. Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography. Am J Cardiol. 1984;53: 1087-1094.
    • (1984) Am J Cardiol. , vol.53 , pp. 1087-1094
    • Maron, B.J.1    Nichols, P.F.2    Pickle, L.W.3    Wesley, Y.E.4    Mulvihill, J.J.5
  • 136
    • 0023258399 scopus 로고
    • Inheritance of hypertrophic cardiomyopathy: A cross sectional and M mode echocardiographic study of 50 families
    • Greaves SC, Roche AHG, Neutze JM, Whitlock RML, Veale AMO. Inheritance of hypertrophic cardiomyopathy: a cross sectional and M mode echocardiographic study of 50 families. Br Heart J. 1987;58: 259-266.
    • (1987) Br Heart J. , vol.58 , pp. 259-266
    • Greaves, S.C.1    Roche, A.H.G.2    Neutze, J.M.3    Whitlock, R.M.L.4    Veale, A.M.O.5
  • 137
    • 0031471956 scopus 로고    scopus 로고
    • Both hypertrophic and dilated cardiomyopathies are caused by mutation in the same gene, [delta]-sarcoglycan, in hamster: An animal model of disrupted dystrophin-associated glycoprotein complex
    • Sakamoto A, Ono K, Abe M, Jasmin G, Eki T, Murakami Y, Masaki T, Toyo-oka T, Hanaoka F. Both hypertrophic and dilated cardiomyopathies are caused by mutation in the same gene, [delta]-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Proc Natl Acad Sci U S A. 1997;94:13873-13878.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 13873-13878
    • Sakamoto, A.1    Ono, K.2    Abe, M.3    Jasmin, G.4    Eki, T.5    Murakami, Y.6    Masaki, T.7    Toyo-oka, T.8    Hanaoka, F.9
  • 138
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998;280:750-752.
    • (1998) Science , vol.280 , pp. 750-752
    • Olson, T.M.1    Michels, V.V.2    Thibodeau, S.N.3    Tai, Y.S.4    Keating, M.T.5
  • 143
    • 0020522788 scopus 로고
    • The C-proteins of rabbit red, white and cardiac muscles
    • Yamamoto K, Moos C. The C-proteins of rabbit red, white and cardiac muscles. J Biol Chem. 1983;258:8395-8401.
    • (1983) J Biol Chem. , vol.258 , pp. 8395-8401
    • Yamamoto, K.1    Moos, C.2
  • 144
    • 0030454149 scopus 로고    scopus 로고
    • Functional analysis of the mutations in the human cardiac β-myosin that are responsible for familial hypertrophic cardiomyopathy
    • Sata M, Ikebe M. Functional analysis of the mutations in the human cardiac β-myosin that are responsible for familial hypertrophic cardiomyopathy. J Clin Invest. 1997;98:2866-2873.
    • (1997) J Clin Invest. , vol.98 , pp. 2866-2873
    • Sata, M.1    Ikebe, M.2


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