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Volumn 48, Issue 5, 2010, Pages 882-892

Mutations in Troponin that cause HCM, DCM AND RCM: What can we learn about thin filament function?

Author keywords

ATPase; Calcium sensitivity; Cardiomyopathy; Mutations; Troponin

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CALCIUM ION; TROPONIN; TROPONIN I; TROPONIN T;

EID: 77951621530     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.yjmcc.2009.10.031     Document Type: Review
Times cited : (172)

References (185)
  • 1
    • 0030444538 scopus 로고    scopus 로고
    • Muscle proteins-their actions and interactions
    • Holmes K.C. Muscle proteins-their actions and interactions. Curr Opin Struct Biol 1996, 6:781-789.
    • (1996) Curr Opin Struct Biol , vol.6 , pp. 781-789
    • Holmes, K.C.1
  • 2
    • 0015214368 scopus 로고
    • Mechanism of adenosine triphosphate hydrolysis by actomyosin
    • Lymn R.W., Taylor E.W. Mechanism of adenosine triphosphate hydrolysis by actomyosin. Biochemistry 1971, 10(25):4617-4624.
    • (1971) Biochemistry , vol.10 , Issue.25 , pp. 4617-4624
    • Lymn, R.W.1    Taylor, E.W.2
  • 3
    • 0032494188 scopus 로고    scopus 로고
    • Troponin and tropomyosin. Proteins that switch on and tune in the activity of cardiac myofilaments
    • Solaro R.J., Rarick H.M. Troponin and tropomyosin. Proteins that switch on and tune in the activity of cardiac myofilaments. Circ Res 1998, 83:471-480.
    • (1998) Circ Res , vol.83 , pp. 471-480
    • Solaro, R.J.1    Rarick, H.M.2
  • 4
    • 0023071735 scopus 로고
    • Structural aspects of troponin-tropomyosin regulation of skeletal muscle contraction
    • Zot A.S., Potter J.D. 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
  • 5
    • 0029031198 scopus 로고
    • The troponin complex and regulation of muscle contraction
    • Farah C.S., Reinach F.C. The troponin complex and regulation of muscle contraction. FASEB J 1995, 9(9):755-767.
    • (1995) FASEB J , vol.9 , Issue.9 , pp. 755-767
    • Farah, C.S.1    Reinach, F.C.2
  • 6
    • 0015218120 scopus 로고
    • Reconstitution of troponin activity from three protein components
    • Greaser M.L., Gergely J. Reconstitution of troponin activity from three protein components. J Biol Chem 1971, 246(13):4226-4233.
    • (1971) J Biol Chem , vol.246 , Issue.13 , pp. 4226-4233
    • Greaser, M.L.1    Gergely, J.2
  • 7
    • 0015935352 scopus 로고
    • Purification and properties of the components from troponin
    • Greaser M.L., Gergely J. Purification and properties of the components from troponin. J Biol Chem 1973, 248:2125-2133.
    • (1973) J Biol Chem , vol.248 , pp. 2125-2133
    • Greaser, M.L.1    Gergely, J.2
  • 8
    • 0016213363 scopus 로고
    • 2+ regulation of muscle contraction
    • 2+ regulation of muscle contraction. Biochemistry 1974, 13:2697-2703.
    • (1974) Biochemistry , vol.13 , pp. 2697-2703
    • Potter, J.D.1    Gergely, J.2
  • 9
    • 0025923244 scopus 로고
    • Ca2+ and activation mechanisms in skeletal muscle
    • F
    • Ashley C.C., Mulligan I.P., Lea T.J. Ca2+ and activation mechanisms in skeletal muscle. Q Rev Biophys 1991 Feb, 24(1):1-73.
    • (1991) Q Rev Biophys , vol.24 , Issue.1 , pp. 1-73
    • Ashley, C.C.1    Mulligan, I.P.2    Lea, T.J.3
  • 10
    • 0037588762 scopus 로고    scopus 로고
    • Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated form
    • Takeda S., Yamashita A., Maeda K., Maeda Y. Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated form. Nature 2003, 424(6944):35-41.
    • (2003) Nature , vol.424 , Issue.6944 , pp. 35-41
    • Takeda, S.1    Yamashita, A.2    Maeda, K.3    Maeda, Y.4
  • 12
    • 0035979730 scopus 로고    scopus 로고
    • Crossbridge and tropomyosin positions observed in native, interacting thick and thin filaments
    • Craig R., Lehman W. Crossbridge and tropomyosin positions observed in native, interacting thick and thin filaments. J Mol Biol 2001, 311:1027-1036.
    • (2001) J Mol Biol , vol.311 , pp. 1027-1036
    • Craig, R.1    Lehman, W.2
  • 13
    • 0029920689 scopus 로고    scopus 로고
    • Altered interactions among thin filament proteins modulate cardiac function
    • Solaro R.J., 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
  • 14
    • 0031777885 scopus 로고    scopus 로고
    • A new look at thin filament regulation in vertebrate skeletal muscle
    • Squire J.M., Morris E.P. A new look at thin filament regulation in vertebrate skeletal muscle. FASEB J 1998, 12:761-771.
    • (1998) FASEB J , vol.12 , pp. 761-771
    • Squire, J.M.1    Morris, E.P.2
  • 15
    • 0031566964 scopus 로고    scopus 로고
    • Steric-model for activation of muscle thin filaments
    • Vibert P., Craig R., Lehman W. Steric-model for activation of muscle thin filaments. J Mol Biol 1997, 266:8-14.
    • (1997) J Mol Biol , vol.266 , pp. 8-14
    • Vibert, P.1    Craig, R.2    Lehman, W.3
  • 16
    • 0032808243 scopus 로고    scopus 로고
    • Tropomyosin positions in regulated thin filaments revealed by cryoelectron microscopy
    • Xu C., Craig R., Tobacman L., Horowitz R., Lehman W. Tropomyosin positions in regulated thin filaments revealed by cryoelectron microscopy. Biophys J 1999, 77:985-992.
    • (1999) Biophys J , vol.77 , pp. 985-992
    • Xu, C.1    Craig, R.2    Tobacman, L.3    Horowitz, R.4    Lehman, W.5
  • 17
    • 0035970288 scopus 로고    scopus 로고
    • Troponin organization on relaxed and activated thin filaments revealed by electron microscopy and three-dimensional reconstruction
    • Lehman W., Rosol M., Tobacman L.S., Craig R. Troponin organization on relaxed and activated thin filaments revealed by electron microscopy and three-dimensional reconstruction. J Mol Biol 2001, 307:739-744.
    • (2001) J Mol Biol , vol.307 , pp. 739-744
    • Lehman, W.1    Rosol, M.2    Tobacman, L.S.3    Craig, R.4
  • 18
    • 0035957530 scopus 로고    scopus 로고
    • 2+-induced switching of troponin and tropomyosin on actin filaments as revealed by electron cryo-microscopy
    • 2+-induced switching of troponin and tropomyosin on actin filaments as revealed by electron cryo-microscopy. J Mol Biol 2001, 308:241-261.
    • (2001) J Mol Biol , vol.308 , pp. 241-261
    • Narita, A.1    Yasunga, T.2    Ishikawa, T.3    Mayanagi, K.4    Wakabayashi, T.5
  • 20
    • 20444436795 scopus 로고    scopus 로고
    • Calcium-dependent changes in the flexibility of the regulatory domain of troponin C in the troponin complex
    • Blumenschein T.M.A., Stone D.B., Fletterick R.J., Mendelson R.A., Sykes B.D. Calcium-dependent changes in the flexibility of the regulatory domain of troponin C in the troponin complex. J Biol Chem 2005, 280(23):21924-21932.
    • (2005) J Biol Chem , vol.280 , Issue.23 , pp. 21924-21932
    • Blumenschein, T.M.A.1    Stone, D.B.2    Fletterick, R.J.3    Mendelson, R.A.4    Sykes, B.D.5
  • 21
    • 33746788578 scopus 로고    scopus 로고
    • An interplay between protein disorder and structure confers the Ca2+ regulation of striated muscle
    • Hoffmann R.M.B., Blumenschein T.M.A., Sykes B.D. An interplay between protein disorder and structure confers the Ca2+ regulation of striated muscle. J Mol Biol 2006, 361:625-633.
    • (2006) J Mol Biol , vol.361 , pp. 625-633
    • Hoffmann, R.M.B.1    Blumenschein, T.M.A.2    Sykes, B.D.3
  • 22
    • 33845211561 scopus 로고    scopus 로고
    • Structural changes in troponin in response to Ca2+ and myosin binding to thin filaments during activation of skeletal muscle
    • N 21
    • Sun Y.B., Brandmeier B., Irving M. Structural changes in troponin in response to Ca2+ and myosin binding to thin filaments during activation of skeletal muscle. Proc Natl Acad Sci U S A 2006 Nov 21, 103(47):17771-17776.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , Issue.47 , pp. 17771-17776
    • Sun, Y.B.1    Brandmeier, B.2    Irving, M.3
  • 23
    • 0027234056 scopus 로고
    • Regulation of the interaction between actin and myosin subfragment 1: evidence for three states of the thin filament
    • McKillop D.F.A., Geeves M.A. Regulation of the interaction between actin and myosin subfragment 1: evidence for three states of the thin filament. Biophys J 1993, 65:693-701.
    • (1993) Biophys J , vol.65 , pp. 693-701
    • McKillop, D.F.A.1    Geeves, M.A.2
  • 24
    • 0024007477 scopus 로고
    • Effect of Ca2+ on cross-bridge turnover kinetics in skinned single rabbit psoas fibers: implications for regulation of muscle contraction
    • M
    • Brenner B. Effect of Ca2+ on cross-bridge turnover kinetics in skinned single rabbit psoas fibers: implications for regulation of muscle contraction. Proc Natl Acad Sci U S A 1988 May, 85(9):3265-3269.
    • (1988) Proc Natl Acad Sci U S A , vol.85 , Issue.9 , pp. 3265-3269
    • Brenner, B.1
  • 25
    • 0033548486 scopus 로고    scopus 로고
    • Roles for the troponin tail domain in thin filament assembly and regulation. A deletional study of cardiac troponin T
    • Hinkle A., Goranson A., Butters C.A., Tobacman Roles for the troponin tail domain in thin filament assembly and regulation. A deletional study of cardiac troponin T. J Biol Chem 1999, 274:7157-7164.
    • (1999) J Biol Chem , vol.274 , pp. 7157-7164
    • Hinkle, A.1    Goranson, A.2    Butters, C.A.3    Tobacman4
  • 26
    • 0034703378 scopus 로고    scopus 로고
    • Tropomyosin and actin isoforms modulate the localization of tropomyosin strands on actin filaments
    • Lehman W., Hatch V., Korman V., Rosol M., Thomas L., Maytum R., et al. Tropomyosin and actin isoforms modulate the localization of tropomyosin strands on actin filaments. J Mol Biol 2000, 302:593-606.
    • (2000) J Mol Biol , vol.302 , pp. 593-606
    • Lehman, W.1    Hatch, V.2    Korman, V.3    Rosol, M.4    Thomas, L.5    Maytum, R.6
  • 27
    • 0032540229 scopus 로고    scopus 로고
    • The muscle thin filament as a classical cooperative/allosteric regulatory system
    • Lehrer S.S., Geeves M.A. The muscle thin filament as a classical cooperative/allosteric regulatory system. J Mol Biol 1998, 277:1081-1089.
    • (1998) J Mol Biol , vol.277 , pp. 1081-1089
    • Lehrer, S.S.1    Geeves, M.A.2
  • 28
    • 0037008682 scopus 로고    scopus 로고
    • The troponin tail domain promotes a conformational state of the thin filament that suppresses myosin activity
    • Tobacman L.S., Nihli M., Butters C., Heller M., Hatch V., Craig R., et al. The troponin tail domain promotes a conformational state of the thin filament that suppresses myosin activity. J Biol Chem 2002, 277(31):27636-27642.
    • (2002) J Biol Chem , vol.277 , Issue.31 , pp. 27636-27642
    • Tobacman, L.S.1    Nihli, M.2    Butters, C.3    Heller, M.4    Hatch, V.5    Craig, R.6
  • 29
    • 0028340236 scopus 로고
    • Dynamics of the muscle thin filament regulatory switch: the size of the cooperative unit
    • Geeves M.A., Lehrer S.S. Dynamics of the muscle thin filament regulatory switch: the size of the cooperative unit. Biophys J 1994, 67:273-282.
    • (1994) Biophys J , vol.67 , pp. 273-282
    • Geeves, M.A.1    Lehrer, S.S.2
  • 30
    • 0033579814 scopus 로고    scopus 로고
    • Cooperativity and switching within the three-state model of muscle regulation
    • Maytum R., Lehrer S.S., Geeves M.A. Cooperativity and switching within the three-state model of muscle regulation. Biochemistry 1999, 38:1102-1110.
    • (1999) Biochemistry , vol.38 , pp. 1102-1110
    • Maytum, R.1    Lehrer, S.S.2    Geeves, M.A.3
  • 31
    • 0028864262 scopus 로고
    • Separation and characterization of the two functional regions of troponin involved in muscle thin filament regulation
    • Schaertl S., Lehrer S.S., Geeves M.A. Separation and characterization of the two functional regions of troponin involved in muscle thin filament regulation. Biochemistry 1995, 34:15890-15894.
    • (1995) Biochemistry , vol.34 , pp. 15890-15894
    • Schaertl, S.1    Lehrer, S.S.2    Geeves, M.A.3
  • 32
    • 0032555955 scopus 로고    scopus 로고
    • Familial hypertrophic cardiomyopathy. From mutations to funcational defects
    • Bonne G., Carrier L., Richard P., Hainque B., Schwartz K. Familial hypertrophic cardiomyopathy. From mutations to funcational defects. Circ Res 1998, 83:580-593.
    • (1998) Circ Res , vol.83 , pp. 580-593
    • Bonne, G.1    Carrier, L.2    Richard, P.3    Hainque, B.4    Schwartz, K.5
  • 34
    • 70449192269 scopus 로고
    • Asymmetrical hypertrophy of the heart in young adults
    • Teare D. Asymmetrical hypertrophy of the heart in young adults. Br Heart J 1957, 20:1-8.
    • (1957) Br Heart J , vol.20 , pp. 1-8
    • Teare, D.1
  • 35
    • 0035841636 scopus 로고    scopus 로고
    • Cardiomyopathies: from genetics to the prospect of treatment
    • Franz W.M., Müller O.J., Katus H.A. Cardiomyopathies: from genetics to the prospect of treatment. Lancet 2001, 358:1627-1637.
    • (2001) Lancet , vol.358 , pp. 1627-1637
    • Franz, W.M.1    Müller, O.J.2    Katus, H.A.3
  • 36
    • 0024757325 scopus 로고
    • Sudden death in hypertrophic cardiomyopathy. Assessment of patients at high risk
    • McKenna W.J., Camm J.A. Sudden death in hypertrophic cardiomyopathy. Assessment of patients at high risk. Circulation 1989, 80:1489-1491.
    • (1989) Circulation , vol.80 , pp. 1489-1491
    • McKenna, W.J.1    Camm, J.A.2
  • 37
    • 0030707760 scopus 로고    scopus 로고
    • Aetiology, diagnosis, investigation, and management of the cardiomyopathies
    • Oakley C. Aetiology, diagnosis, investigation, and management of the cardiomyopathies. Br Med J 1997, 315:1520-1524.
    • (1997) Br Med J , vol.315 , pp. 1520-1524
    • Oakley, C.1
  • 39
    • 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., et al. 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
  • 40
    • 15844400653 scopus 로고    scopus 로고
    • Mutations in either the essential or the regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
    • Poetter K., Jiang H., Hassanzadeh S., Master S.R., Chang A., Dalakas M.C., et al. Mutations in either the essential or the regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 1996, 13:63-69.
    • (1996) Nat Genet , vol.13 , pp. 63-69
    • Poetter, K.1    Jiang, H.2    Hassanzadeh, S.3    Master, S.R.4    Chang, A.5    Dalakas, M.C.6
  • 41
    • 0028886136 scopus 로고
    • Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
    • Bonne G., Carrier L., Bercovici J., Cruaud C., Richard P., Hainque B., et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995, 11:438-440.
    • (1995) Nat Genet , vol.11 , pp. 438-440
    • Bonne, G.1    Carrier, L.2    Bercovici, J.3    Cruaud, C.4    Richard, P.5    Hainque, B.6
  • 42
    • 0028844204 scopus 로고
    • Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
    • Watkins H., Conner D., Thierfelder L., Jarcho J.A., MacRae C., McKenna W.J., et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 1995, 11:434-437.
    • (1995) Nat Genet , vol.11 , pp. 434-437
    • Watkins, H.1    Conner, D.2    Thierfelder, L.3    Jarcho, J.A.4    MacRae, C.5    McKenna, W.J.6
  • 43
    • 0033610050 scopus 로고    scopus 로고
    • Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene
    • Manatsu S., Takahashi M., Sakamoto T., Hiroe M., Marumo F., Kimura A. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun 1999, 262:411-417.
    • (1999) Biochem Biophys Res Commun , vol.262 , pp. 411-417
    • Manatsu, S.1    Takahashi, M.2    Sakamoto, T.3    Hiroe, M.4    Marumo, F.5    Kimura, A.6
  • 45
    • 0028902929 scopus 로고
    • Mutations in the genes for cardiac troponin t and α-tropomyosin in hypertrophic cardiomyopathy
    • Watkins H., McKenna W., Thierfelder L., Suk J., Anan R., O'Donoghue A., et al. Mutations in the genes for cardiac troponin t and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995, 332:1058-1064.
    • (1995) N Engl J Med , vol.332 , pp. 1058-1064
    • Watkins, H.1    McKenna, W.2    Thierfelder, L.3    Suk, J.4    Anan, R.5    O'Donoghue, A.6
  • 46
    • 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., Lamas R., McKenna W., Vosberg H.P., et al. 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    Lamas, R.4    McKenna, W.5    Vosberg, H.P.6
  • 47
    • 0034680324 scopus 로고    scopus 로고
    • Homozygous mutation in cardiac troponin T. Implications for hypertrophic cardiomyopathy
    • Ho C.Y., Lever H.M., DeSanctis R., Farver C.F., Seidman J.G., Seidman C.E. Homozygous mutation in cardiac troponin T. Implications for hypertrophic cardiomyopathy. Circulation 2000, 102:1950-1955.
    • (2000) Circulation , vol.102 , pp. 1950-1955
    • Ho, C.Y.1    Lever, H.M.2    DeSanctis, R.3    Farver, C.F.4    Seidman, J.G.5    Seidman, C.E.6
  • 50
    • 0030765610 scopus 로고    scopus 로고
    • Mutations in the Troponin I gene associated with hypertrophic cardiomyopathy
    • Kimura A., Harada H., Park J.E., Nishi H., Satoh M., Takahashi M., et al. Mutations in the Troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997, 16:379-382.
    • (1997) Nat Genet , vol.16 , pp. 379-382
    • Kimura, A.1    Harada, H.2    Park, J.E.3    Nishi, H.4    Satoh, M.5    Takahashi, M.6
  • 51
    • 0035872209 scopus 로고    scopus 로고
    • Mutations in the γ2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis
    • Blair E., Redwood C., Ashrafian H., Oliveira M., Broxholme J., Kerr B., et al. Mutations in the γ2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet 2001, 10(11):1215-1220.
    • (2001) Hum Mol Genet , vol.10 , Issue.11 , pp. 1215-1220
    • Blair, E.1    Redwood, C.2    Ashrafian, H.3    Oliveira, M.4    Broxholme, J.5    Kerr, B.6
  • 52
    • 0037453074 scopus 로고    scopus 로고
    • Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy
    • Geier C., Perrot A., Özcelik C., Binner P., Counsell D., Hoffmann K., et al. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation 2003, 107:1390-1395.
    • (2003) Circulation , vol.107 , pp. 1390-1395
    • Geier, C.1    Perrot, A.2    Özcelik, C.3    Binner, P.4    Counsell, D.5    Hoffmann, K.6
  • 53
    • 0035909017 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy. histopathological features of sudden death in cardiac troponin T disease
    • Varnava A.M., Elliott P.M., Baboonian C., Davison F., Davies M.J., McKenna W.J. Hypertrophic cardiomyopathy. histopathological features of sudden death in cardiac troponin T disease. Circulation 2001, 104:1380-1384.
    • (2001) Circulation , vol.104 , pp. 1380-1384
    • Varnava, A.M.1    Elliott, P.M.2    Baboonian, C.3    Davison, F.4    Davies, M.J.5    McKenna, W.J.6
  • 54
    • 0034917942 scopus 로고    scopus 로고
    • Many roads lead to a broken heart: the genetics of dilated cardiomyopathy
    • Schönberger J., Seidman C.E. Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. Am J Hum Genet 2001, 69:249-260.
    • (2001) Am J Hum Genet , vol.69 , pp. 249-260
    • Schönberger, J.1    Seidman, C.E.2
  • 55
    • 0035936792 scopus 로고    scopus 로고
    • The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms
    • Seidman J.G., Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001, 104:557-567.
    • (2001) Cell , vol.104 , pp. 557-567
    • Seidman, J.G.1    Seidman, C.2
  • 56
    • 0026319459 scopus 로고
    • The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy
    • Michels V.V., Moll P.P., Miller F.A., Tajik J., Chu J.S., Driscoll D.J., et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 1992, 326(2):77-82.
    • (1992) N Engl J Med , vol.326 , Issue.2 , pp. 77-82
    • Michels, V.V.1    Moll, P.P.2    Miller, F.A.3    Tajik, J.4    Chu, J.S.5    Driscoll, D.J.6
  • 59
    • 0033165780 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity
    • Mestroni L., Rocco C., Gregori D., Sinagra G., Di Lenarda A., Miocic S., et al. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. J Am Coll Cardiol 1999, 34(1):181-190.
    • (1999) J Am Coll Cardiol , vol.34 , Issue.1 , pp. 181-190
    • Mestroni, L.1    Rocco, C.2    Gregori, D.3    Sinagra, G.4    Di Lenarda, A.5    Miocic, S.6
  • 60
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • Olson T.M., Michels V.V., Thibodeau S.N., Tai Y.S., Keating M.T. 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
  • 61
    • 0034619996 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
    • D 7
    • Kamisago M., Sharma S.D., DePalma S.R., Solomon S., Sharma P., McDonough B., et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 2000 Dec 7, 343(23):1688-1696.
    • (2000) N Engl J Med , vol.343 , Issue.23 , pp. 1688-1696
    • Kamisago, M.1    Sharma, S.D.2    DePalma, S.R.3    Solomon, S.4    Sharma, P.5    McDonough, B.6
  • 62
    • 20044388707 scopus 로고    scopus 로고
    • Gene mutations in adult Japanese patients with dilated cardiomyopathy
    • Shimizu M., Ino H., Yasuda T., Fujino N., Uchiyama K., Mabuchi T., et al. Gene mutations in adult Japanese patients with dilated cardiomyopathy. Circ. J. 2005, 69:150-153.
    • (2005) Circ. J. , vol.69 , pp. 150-153
    • Shimizu, M.1    Ino, H.2    Yasuda, T.3    Fujino, N.4    Uchiyama, K.5    Mabuchi, T.6
  • 63
    • 0036478897 scopus 로고    scopus 로고
    • Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
    • F
    • Gerull B., Gramlich M., Atherton J., McNabb M., Trombitas K., Sasse-Klaassen S., et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002 Feb, 30(2):201-204.
    • (2002) Nat Genet , vol.30 , Issue.2 , pp. 201-204
    • Gerull, B.1    Gramlich, M.2    Atherton, J.3    McNabb, M.4    Trombitas, K.5    Sasse-Klaassen, S.6
  • 64
    • 0034971165 scopus 로고    scopus 로고
    • Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy
    • A
    • Olson T.M., Kishimoto N.Y., Whitby F.G., Michels V.V. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol 2001 Apr, 33(4):723-732.
    • (2001) J Mol Cell Cardiol , vol.33 , Issue.4 , pp. 723-732
    • Olson, T.M.1    Kishimoto, N.Y.2    Whitby, F.G.3    Michels, V.V.4
  • 65
    • 0035975958 scopus 로고    scopus 로고
    • Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy
    • O 30
    • Li D., Czernuszewicz G.Z., Gonzalez O., Tapscott T., Karibe A., Durand J.B., et al. Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. Circulation 2001 Oct 30, 104(18):2188-2193.
    • (2001) Circulation , vol.104 , Issue.18 , pp. 2188-2193
    • Li, D.1    Czernuszewicz, G.Z.2    Gonzalez, O.3    Tapscott, T.4    Karibe, A.5    Durand, J.B.6
  • 66
    • 8144224216 scopus 로고    scopus 로고
    • Severe disease expression of cardiac troponin c and t mutations in patients with idiopathic dilated cardiomyopathy
    • Mogensen J., Murphy R.T., Shaw T., Bahl A., Redwood C., Watkins H., et al. Severe disease expression of cardiac troponin c and t mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol 2004, 44:2033-2040.
    • (2004) J Am Coll Cardiol , vol.44 , pp. 2033-2040
    • Mogensen, J.1    Murphy, R.T.2    Shaw, T.3    Bahl, A.4    Redwood, C.5    Watkins, H.6
  • 67
    • 0034737972 scopus 로고    scopus 로고
    • Clinical profile and outcome of idiopathic restrictive cardiomyopathy
    • M 30
    • Ammash N.M., Seward J.B., Bailey K.R., Edwards W.D., Tajik A.J. Clinical profile and outcome of idiopathic restrictive cardiomyopathy. Circulation 2000 May 30, 101(21):2490-2496.
    • (2000) Circulation , vol.101 , Issue.21 , pp. 2490-2496
    • Ammash, N.M.1    Seward, J.B.2    Bailey, K.R.3    Edwards, W.D.4    Tajik, A.J.5
  • 69
    • 12744255130 scopus 로고    scopus 로고
    • New insights into the pathology of inherited cardiomyopathy
    • Hughes S., McKenna W.J. New insights into the pathology of inherited cardiomyopathy. Heart 2005, 91:257-264.
    • (2005) Heart , vol.91 , pp. 257-264
    • Hughes, S.1    McKenna, W.J.2
  • 71
    • 0041508538 scopus 로고    scopus 로고
    • Familial restrictive cardiomyopathy with skeletal abnormalities
    • Schwartz M.L., Colan S.D. Familial restrictive cardiomyopathy with skeletal abnormalities. Am J Cardiol 2003, 92:636-639.
    • (2003) Am J Cardiol , vol.92 , pp. 636-639
    • Schwartz, M.L.1    Colan, S.D.2
  • 72
    • 0037238265 scopus 로고    scopus 로고
    • Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations
    • Mogensen J., Kubo T., Duque M., Uribe W., Shaw A., Murphy R., et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. Eur J Clin Invest 2003, 111:209-216.
    • (2003) Eur J Clin Invest , vol.111 , pp. 209-216
    • Mogensen, J.1    Kubo, T.2    Duque, M.3    Uribe, W.4    Shaw, A.5    Murphy, R.6
  • 73
    • 85101730873 scopus 로고    scopus 로고
    • Converging pathways and principles in heart development
    • Chein K.R., Olson E.N. Converging pathways and principles in heart development. Cell 2002, 110:153-162.
    • (2002) Cell , vol.110 , pp. 153-162
    • Chein, K.R.1    Olson, E.N.2
  • 74
    • 0035044156 scopus 로고    scopus 로고
    • Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy
    • A
    • Zhang J., Kumar A., Stalker H.J., Virdi G., Ferrans V.J., Horiba K., et al. Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy. Clin Genet 2001 Apr, 59(4):248-256.
    • (2001) Clin Genet , vol.59 , Issue.4 , pp. 248-256
    • Zhang, J.1    Kumar, A.2    Stalker, H.J.3    Virdi, G.4    Ferrans, V.J.5    Horiba, K.6
  • 75
    • 54449102251 scopus 로고    scopus 로고
    • Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes
    • N
    • Kaski J.P., Syrris P., Burch M., Tome-Esteban M.T., Fenton M., Christiansen M., et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart 2008 Nov, 94(11):1478-1484.
    • (2008) Heart , vol.94 , Issue.11 , pp. 1478-1484
    • Kaski, J.P.1    Syrris, P.2    Burch, M.3    Tome-Esteban, M.T.4    Fenton, M.5    Christiansen, M.6
  • 77
    • 0028178083 scopus 로고
    • Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere
    • J 3
    • Thierfelder L., Watkins H., MacRae C., Lamas R., McKenna W., Vosberg H.P., et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994 Jun 3, 77(5):701-712.
    • (1994) Cell , vol.77 , Issue.5 , pp. 701-712
    • Thierfelder, L.1    Watkins, H.2    MacRae, C.3    Lamas, R.4    McKenna, W.5    Vosberg, H.P.6
  • 78
    • 0035378612 scopus 로고    scopus 로고
    • First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
    • J
    • Hoffmann B., Schmidt-Traub H., Perrot A., Osterziel K.J., Gessner R. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum Mutat 2001 Jun, 17(6):524.
    • (2001) Hum Mutat , vol.17 , Issue.6 , pp. 524
    • Hoffmann, B.1    Schmidt-Traub, H.2    Perrot, A.3    Osterziel, K.J.4    Gessner, R.5
  • 79
    • 10644283181 scopus 로고    scopus 로고
    • Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy
    • D 21
    • Mogensen J., Murphy R.T., Kubo T., Bahl A., Moon J.C., Klausen I.C., et al. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004 Dec 21, 44(12):2315-2325.
    • (2004) J Am Coll Cardiol , vol.44 , Issue.12 , pp. 2315-2325
    • Mogensen, J.1    Murphy, R.T.2    Kubo, T.3    Bahl, A.4    Moon, J.C.5    Klausen, I.C.6
  • 80
    • 0037188409 scopus 로고    scopus 로고
    • Effect of hydrophobic residue substitutions with glutamine on Ca(2+) binding and exchange with the N-domain of troponin C
    • M 28
    • Tikunova S.B., Rall J.A., Davis J.P. Effect of hydrophobic residue substitutions with glutamine on Ca(2+) binding and exchange with the N-domain of troponin C. Biochemistry 2002 May 28, 41(21):6697-6705.
    • (2002) Biochemistry , vol.41 , Issue.21 , pp. 6697-6705
    • Tikunova, S.B.1    Rall, J.A.2    Davis, J.P.3
  • 81
    • 4143085980 scopus 로고    scopus 로고
    • Designing calcium-sensitizing mutations in the regulatory domain of cardiac troponin C
    • A 20
    • Tikunova S.B., Davis J.P. Designing calcium-sensitizing mutations in the regulatory domain of cardiac troponin C. J Biol Chem 2004 Aug 20, 279(34):35341-35352.
    • (2004) J Biol Chem , vol.279 , Issue.34 , pp. 35341-35352
    • Tikunova, S.B.1    Davis, J.P.2
  • 82
    • 0018341144 scopus 로고
    • Nemaline (rod) myopathy: a possible cause of rapidly fatal infantile hypotonia
    • J
    • Gillies C., Raye J., Vasan U., Hart W.E., Goldblatt P.J. Nemaline (rod) myopathy: a possible cause of rapidly fatal infantile hypotonia. Arch Pathol Lab Med 1979 Jan, 103(1):1-5.
    • (1979) Arch Pathol Lab Med , vol.103 , Issue.1 , pp. 1-5
    • Gillies, C.1    Raye, J.2    Vasan, U.3    Hart, W.E.4    Goldblatt, P.J.5
  • 83
    • 0026785570 scopus 로고
    • Spectroscopic analysis of a methionine-48 to tyrosine mutant of chicken troponin C
    • Pearlstone J.R., McCubbin W.D., Kay C.M., Sykes B.D., Smillie L.B. Spectroscopic analysis of a methionine-48 to tyrosine mutant of chicken troponin C. Biochemistry 1992, 31(40):9703-9708.
    • (1992) Biochemistry , vol.31 , Issue.40 , pp. 9703-9708
    • Pearlstone, J.R.1    McCubbin, W.D.2    Kay, C.M.3    Sykes, B.D.4    Smillie, L.B.5
  • 85
    • 0032904878 scopus 로고    scopus 로고
    • Mutations in the N- and D-helices of the N-domain of troponin C affect the C-domain and regulatory function
    • Smith L., Greenfield N.J., Hitchcock-DeGregori S.E. Mutations in the N- and D-helices of the N-domain of troponin C affect the C-domain and regulatory function. Biophys J 1999, 76(1 Pt 1):400-408.
    • (1999) Biophys J , vol.76 , Issue.1 PART 1 , pp. 400-408
    • Smith, L.1    Greenfield, N.J.2    Hitchcock-DeGregori, S.E.3
  • 86
    • 0028176943 scopus 로고
    • Ca2+, Mg2+, and troponin I inhibitory peptide binding to a Phe-154 to Trp mutant of chicken skeletal muscle troponin C
    • Chandra M., McCubbin W.D., Oikawa K., Kay C.M., Smillie L.B. Ca2+, Mg2+, and troponin I inhibitory peptide binding to a Phe-154 to Trp mutant of chicken skeletal muscle troponin C. Biochemistry 1994, 33(10):2961-2969.
    • (1994) Biochemistry , vol.33 , Issue.10 , pp. 2961-2969
    • Chandra, M.1    McCubbin, W.D.2    Oikawa, K.3    Kay, C.M.4    Smillie, L.B.5
  • 87
    • 37349117667 scopus 로고    scopus 로고
    • Modulation of cardiac troponin C function by the cardiac-specific N-terminus of troponin I: influence of PKA phosphorylation and involvement in cardiomyopathies
    • J 18
    • Baryshnikova O.K., Li M.X., Sykes B.D. Modulation of cardiac troponin C function by the cardiac-specific N-terminus of troponin I: influence of PKA phosphorylation and involvement in cardiomyopathies. J Mol Biol 2008 Jan 18, 375(3):735-751.
    • (2008) J Mol Biol , vol.375 , Issue.3 , pp. 735-751
    • Baryshnikova, O.K.1    Li, M.X.2    Sykes, B.D.3
  • 88
    • 43649089498 scopus 로고    scopus 로고
    • A novel mutant cardiac troponin C disrupts molecular motions critical for calcium binding affinity and cardiomyocyte contractility
    • M 1
    • Lim C.C., Yang H., Yang M., Wang C.K., Shi J., Berg E.A., et al. A novel mutant cardiac troponin C disrupts molecular motions critical for calcium binding affinity and cardiomyocyte contractility. Biophys J 2008 May 1, 94(9):3577-3589.
    • (2008) Biophys J , vol.94 , Issue.9 , pp. 3577-3589
    • Lim, C.C.1    Yang, H.2    Yang, M.3    Wang, C.K.4    Shi, J.5    Berg, E.A.6
  • 89
    • 0142180165 scopus 로고    scopus 로고
    • Different functional properties of troponin T mutants that cause dilated cardiomyopathy
    • Venkatraman G., Harada K., Gomes A.V., Kerrick G.W., Potter J.D. Different functional properties of troponin T mutants that cause dilated cardiomyopathy. J Biol Chem 2003, 278:41670-41678.
    • (2003) J Biol Chem , vol.278 , pp. 41670-41678
    • Venkatraman, G.1    Harada, K.2    Gomes, A.V.3    Kerrick, G.W.4    Potter, J.D.5
  • 90
    • 57749102820 scopus 로고    scopus 로고
    • Challenging current paradigms related to cardiomyopathies. Are changes in the Ca2+ sensitivity of myofilaments containing cardiac troponin C mutations (G159D and L29Q) good predictors of the phenotypic outcomes
    • N 28
    • Dweck D., Hus N., Potter J.D. Challenging current paradigms related to cardiomyopathies. Are changes in the Ca2+ sensitivity of myofilaments containing cardiac troponin C mutations (G159D and L29Q) good predictors of the phenotypic outcomes. J Biol Chem 2008 Nov 28, 283(48):33119-33128.
    • (2008) J Biol Chem , vol.283 , Issue.48 , pp. 33119-33128
    • Dweck, D.1    Hus, N.2    Potter, J.D.3
  • 91
    • 48849100715 scopus 로고    scopus 로고
    • Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C
    • A
    • Landstrom A.P., Parvatiyar M.S., Pinto J.R., Marquardt M.L., Bos J.M., Tester D.J., et al. Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol 2008 Aug, 45(2):281-288.
    • (2008) J Mol Cell Cardiol , vol.45 , Issue.2 , pp. 281-288
    • Landstrom, A.P.1    Parvatiyar, M.S.2    Pinto, J.R.3    Marquardt, M.L.4    Bos, J.M.5    Tester, D.J.6
  • 92
    • 67650544956 scopus 로고    scopus 로고
    • A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy
    • J 10
    • Pinto J.R., Parvatiyar M.S., Jones M.A., Liang J., Ackerman M.J., Potter J.D. A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy. J Biol Chem 2009 Jul 10, 284(28):19090-19100.
    • (2009) J Biol Chem , vol.284 , Issue.28 , pp. 19090-19100
    • Pinto, J.R.1    Parvatiyar, M.S.2    Jones, M.A.3    Liang, J.4    Ackerman, M.J.5    Potter, J.D.6
  • 93
    • 0034614419 scopus 로고    scopus 로고
    • Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy
    • J 7
    • Szczesna D., Zhang R., Zhao J., Jones M., Guzman G., Potter J.D. Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. J Biol Chem 2000 Jan 7, 275(1):624-630.
    • (2000) J Biol Chem , vol.275 , Issue.1 , pp. 624-630
    • Szczesna, D.1    Zhang, R.2    Zhao, J.3    Jones, M.4    Guzman, G.5    Potter, J.D.6
  • 94
    • 0033605422 scopus 로고    scopus 로고
    • 2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy
    • M 26
    • 2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy. J Biol Chem 1999 Mar 26, 274(13):8806-8812.
    • (1999) J Biol Chem , vol.274 , Issue.13 , pp. 8806-8812
    • Yanaga, F.1    Morimoto, S.2    Ohtsuki, I.3
  • 95
    • 0035830841 scopus 로고    scopus 로고
    • Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation
    • F 9
    • Miller T., Szczesna D., Housmans P.R., Zhao J., de Freitas F., Gomes A.V., et al. Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation. J Biol Chem 2001 Feb 9, 276(6):3743-3755.
    • (2001) J Biol Chem , vol.276 , Issue.6 , pp. 3743-3755
    • Miller, T.1    Szczesna, D.2    Housmans, P.R.3    Zhao, J.4    de Freitas, F.5    Gomes, A.V.6
  • 96
    • 0037023758 scopus 로고    scopus 로고
    • Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy
    • A 5
    • Lang R., Gomes A.V., Zhao J., Housmans P.R., Miller T., Potter J.D. Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. J Biol Chem 2002 Apr 5, 277(14):11670-11678.
    • (2002) J Biol Chem , vol.277 , Issue.14 , pp. 11670-11678
    • Lang, R.1    Gomes, A.V.2    Zhao, J.3    Housmans, P.R.4    Miller, T.5    Potter, J.D.6
  • 97
    • 0034698086 scopus 로고    scopus 로고
    • Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy
    • Elliott K., Watkins H., Redwood C.S. Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. J Biol Chem 2000, 275:22069-22074.
    • (2000) J Biol Chem , vol.275 , pp. 22069-22074
    • Elliott, K.1    Watkins, H.2    Redwood, C.S.3
  • 98
    • 24744463882 scopus 로고    scopus 로고
    • Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development
    • S 2
    • Gomes A.V., Liang J., Potter J.D. Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development. J Biol Chem 2005 September 2, 280(35):30909-30915.
    • (2005) J Biol Chem , vol.280 , Issue.35 , pp. 30909-30915
    • Gomes, A.V.1    Liang, J.2    Potter, J.D.3
  • 99
    • 0037154179 scopus 로고    scopus 로고
    • 2+-desensitizing effect of a deletion mutation ΔK210 in cardiac troponin T that causes familial dilated cardiomyopathy. Proceedings of the National Academy of Sciences
    • 2+-desensitizing effect of a deletion mutation ΔK210 in cardiac troponin T that causes familial dilated cardiomyopathy. Proceedings of the National Academy of Sciences. USA 2002, 99(2):913-918.
    • (2002) USA , vol.99 , Issue.2 , pp. 913-918
    • Morimoto, S.1    Lu, Q.W.2    Harada, K.3    Takahashi-Yanaga, F.4    Minakami, R.5    Ohta, M.6
  • 100
    • 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, 277:40710-40716.
    • (2002) J Biol Chem , vol.277 , pp. 40710-40716
    • Robinson, P.1    Mirza, M.2    Knott, A.3    Abdulrazzak, H.4    Willott, R.5    Marston, S.6
  • 101
    • 23344435710 scopus 로고    scopus 로고
    • Characterization of the troponin T dilated cardiomyopathy mutations in the fetal troponin isoform
    • Venkatraman G., Gomes A.V., Kerrick W.G.L., Potter J.D. Characterization of the troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. J Biol Chem 2005, 280:17584-17592.
    • (2005) J Biol Chem , vol.280 , pp. 17584-17592
    • Venkatraman, G.1    Gomes, A.V.2    Kerrick, W.G.L.3    Potter, J.D.4
  • 102
    • 57749101983 scopus 로고    scopus 로고
    • Functional effects of human cardiac troponin C mutations linked to familial and dilated cardiomyopathies
    • 1551-Pos
    • Dweck D., Gomes A.V., Potter J.D. Functional effects of human cardiac troponin C mutations linked to familial and dilated cardiomyopathies. Biophys J 2005, 88. 1551-Pos.
    • (2005) Biophys J , vol.88
    • Dweck, D.1    Gomes, A.V.2    Potter, J.D.3
  • 105
    • 38349117234 scopus 로고    scopus 로고
    • A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin
    • J 25
    • Pinto J.R., Parvatiyar M.S., Jones M.A., Liang J., Potter J.D. A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin. J Biol Chem 2008 Jan 25, 283(4):2156-2166.
    • (2008) J Biol Chem , vol.283 , Issue.4 , pp. 2156-2166
    • Pinto, J.R.1    Parvatiyar, M.S.2    Jones, M.A.3    Liang, J.4    Potter, J.D.5
  • 106
    • 0032564354 scopus 로고    scopus 로고
    • Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function
    • N 24
    • Sweeney H.L., Feng H.S., Yang Z., Watkins H. Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function. Proc Natl Acad Sci U S A 1998 Nov 24, 95(24):14406-14410.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , Issue.24 , pp. 14406-14410
    • Sweeney, H.L.1    Feng, H.S.2    Yang, Z.3    Watkins, H.4
  • 107
    • 0031873371 scopus 로고    scopus 로고
    • Ca2+-sensitizing effects of the mutations at Ile-79 and Arg-92 of troponin T in hypertrophic cardiomyopathy
    • J
    • Morimoto S., Yanaga F., Minakami R., Ohtsuki I. Ca2+-sensitizing effects of the mutations at Ile-79 and Arg-92 of troponin T in hypertrophic cardiomyopathy. Am J Physiol 1998 Jul, 275(1 Pt 1):C200-207.
    • (1998) Am J Physiol , vol.275 , Issue.1 PART 1
    • Morimoto, S.1    Yanaga, F.2    Minakami, R.3    Ohtsuki, I.4
  • 108
    • 0032824580 scopus 로고    scopus 로고
    • Effects of missense mutations Phe110Ile and Glu244Asp in human cardiac troponin T on force generation in skinned cardiac muscle fibers
    • S
    • Nakaura H., Yanaga F., Ohtsuki I., Morimoto S. Effects of missense mutations Phe110Ile and Glu244Asp in human cardiac troponin T on force generation in skinned cardiac muscle fibers. J Biochem 1999 Sep, 126(3):457-460.
    • (1999) J Biochem , vol.126 , Issue.3 , pp. 457-460
    • Nakaura, H.1    Yanaga, F.2    Ohtsuki, I.3    Morimoto, S.4
  • 109
    • 0032864309 scopus 로고    scopus 로고
    • Functional changes in troponin T by a splice donor site mutation that causes hypertrophic cardiomyopathy
    • A
    • Nakaura H., Morimoto S., Yanaga F., Nakata M., Nishi H., Imaizumi T., et al. Functional changes in troponin T by a splice donor site mutation that causes hypertrophic cardiomyopathy. Am J Physiol 1999 Aug, 277(2 Pt 1):C225-232.
    • (1999) Am J Physiol , vol.277 , Issue.2 PART 1
    • Nakaura, H.1    Morimoto, S.2    Yanaga, F.3    Nakata, M.4    Nishi, H.5    Imaizumi, T.6
  • 110
    • 2442417687 scopus 로고    scopus 로고
    • Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction
    • A 9
    • Harada K., Potter J.D. Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction. J Biol Chem 2004 Apr 9, 279(15):14488-14495.
    • (2004) J Biol Chem , vol.279 , Issue.15 , pp. 14488-14495
    • Harada, K.1    Potter, J.D.2
  • 111
    • 27744558988 scopus 로고    scopus 로고
    • F110I and R278C troponin T mutations that cause familial hypertrophic cardiomyopathy affect muscle contraction in transgenic mice and reconstituted human cardiac fibers
    • N 4
    • Hernandez O., Szczesna-Cordary D., Knollmann B.C., Miller T., Bell M., Zhao J., et al. F110I and R278C troponin T mutations that cause familial hypertrophic cardiomyopathy affect muscle contraction in transgenic mice and reconstituted human cardiac fibers. J Biol Chem 2005 Nov 4, 280(44):37183-37194.
    • (2005) J Biol Chem , vol.280 , Issue.44 , pp. 37183-37194
    • Hernandez, O.1    Szczesna-Cordary, D.2    Knollmann, B.C.3    Miller, T.4    Bell, M.5    Zhao, J.6
  • 112
    • 0035886990 scopus 로고    scopus 로고
    • Cardiac troponin T mutations: correlation between the type of mutation and the nature of the myofilament dysfunction in transgenic mice
    • Montgomery D.E., Tardiff J.C., Chandra M. Cardiac troponin T mutations: correlation between the type of mutation and the nature of the myofilament dysfunction in transgenic mice. Journal of Physiology 2001, 536(2):583-592.
    • (2001) Journal of Physiology , vol.536 , Issue.2 , pp. 583-592
    • Montgomery, D.E.1    Tardiff, J.C.2    Chandra, M.3
  • 114
    • 23344435710 scopus 로고    scopus 로고
    • Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform
    • M 6
    • Venkatraman G., Gomes A.V., Kerrick W.G., Potter J.D. Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. J Biol Chem 2005 May 6, 280(18):17584-17592.
    • (2005) J Biol Chem , vol.280 , Issue.18 , pp. 17584-17592
    • Venkatraman, G.1    Gomes, A.V.2    Kerrick, W.G.3    Potter, J.D.4
  • 115
    • 23344452467 scopus 로고    scopus 로고
    • Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype
    • Mirza M., Marston S., Willott R., Ashley C., Mogensen J., McKenna W., et al. Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. J Biol Chem 2005, 280:28498-28506.
    • (2005) J Biol Chem , vol.280 , pp. 28498-28506
    • Mirza, M.1    Marston, S.2    Willott, R.3    Ashley, C.4    Mogensen, J.5    McKenna, W.6
  • 116
    • 0029813865 scopus 로고    scopus 로고
    • Phosphorylation specificities of protein kinase c isozymes for bovine cardiac troponin I and troponin T and sites within these proteins and regulation of myofilament properties
    • 1996, S 20
    • Jideama N.M., Noland T.A., Raynor R.L., Blobe G.C., Fabbro D., Kazanietz M.G., et al. Phosphorylation specificities of protein kinase c isozymes for bovine cardiac troponin I and troponin T and sites within these proteins and regulation of myofilament properties. J Biol Chem 1996 September 20, 271(38):23277-23283. 1996.
    • (1996) J Biol Chem , vol.271 , Issue.38 , pp. 23277-23283
    • Jideama, N.M.1    Noland, T.A.2    Raynor, R.L.3    Blobe, G.C.4    Fabbro, D.5    Kazanietz, M.G.6
  • 117
    • 0034059761 scopus 로고    scopus 로고
    • Regulation of contraction in striated muscle
    • A
    • Gordon A.M., Homsher E., Regnier M. Regulation of contraction in striated muscle. Physiol Rev 2000 Apr, 80(2):853-924.
    • (2000) Physiol Rev , vol.80 , Issue.2 , pp. 853-924
    • Gordon, A.M.1    Homsher, E.2    Regnier, M.3
  • 118
    • 0023645610 scopus 로고
    • Effect of rigor and cycling cross-bridges on the structure of troponin C and on the Ca2+ affinity of the Ca2+-specific regulatory sites in skinned rabbit psoas fibers
    • Guth K., Potter J.D. Effect of rigor and cycling cross-bridges on the structure of troponin C and on the Ca2+ affinity of the Ca2+-specific regulatory sites in skinned rabbit psoas fibers. J Biol Chem 1987, 262(28):13627-13635.
    • (1987) J Biol Chem , vol.262 , Issue.28 , pp. 13627-13635
    • Guth, K.1    Potter, J.D.2
  • 119
    • 0024399874 scopus 로고
    • Reciprocal coupling between troponin C and myosin crossbridge attachment
    • Zot A.S., Potter J.D. Reciprocal coupling between troponin C and myosin crossbridge attachment. Biochemistry 1989, 28(16):6751-6756.
    • (1989) Biochemistry , vol.28 , Issue.16 , pp. 6751-6756
    • Zot, A.S.1    Potter, J.D.2
  • 120
    • 50049090362 scopus 로고    scopus 로고
    • Modulation of troponin C affinity for the thin filament by different cross-bridge states in skinned skeletal muscle fibers
    • S
    • Pinto J.R., Veltri T., Sorenson M.M. Modulation of troponin C affinity for the thin filament by different cross-bridge states in skinned skeletal muscle fibers. Pflugers Arch 2008 Sep, 456(6):1177-1187.
    • (2008) Pflugers Arch , vol.456 , Issue.6 , pp. 1177-1187
    • Pinto, J.R.1    Veltri, T.2    Sorenson, M.M.3
  • 121
    • 0034746350 scopus 로고    scopus 로고
    • Ca2+-and cross-bridge-dependent changes in N- and C-terminal structure of troponin C in rat cardiac muscle
    • J
    • Martyn D.A., Regnier M., Xu D., Gordon A.M. Ca2+-and cross-bridge-dependent changes in N- and C-terminal structure of troponin C in rat cardiac muscle. Biophys J 2001 Jan, 80(1):360-370.
    • (2001) Biophys J , vol.80 , Issue.1 , pp. 360-370
    • Martyn, D.A.1    Regnier, M.2    Xu, D.3    Gordon, A.M.4
  • 122
    • 0032510810 scopus 로고    scopus 로고
    • Structural coupling of troponin C and actomyosin in muscle fibers
    • M 12
    • Li H.C., Fajer P.G. Structural coupling of troponin C and actomyosin in muscle fibers. Biochemistry 1998 May 12, 37(19):6628-6635.
    • (1998) Biochemistry , vol.37 , Issue.19 , pp. 6628-6635
    • Li, H.C.1    Fajer, P.G.2
  • 123
    • 0029993918 scopus 로고    scopus 로고
    • Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy
    • J 15
    • Lin D., Bobkova A., Homsher E., Tobacman L.S. Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy. J Clin Invest 1996 Jun 15, 97(12):2842-2848.
    • (1996) J Clin Invest , vol.97 , Issue.12 , pp. 2842-2848
    • Lin, D.1    Bobkova, A.2    Homsher, E.3    Tobacman, L.S.4
  • 124
    • 0034625768 scopus 로고    scopus 로고
    • Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein
    • Redwood C., Lohmann K., Bing W., Esposito G.M., Elliott K., Abdulrazzak H., et al. Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein. Circ Res 2000, 86(11):1146-1152.
    • (2000) Circ Res , vol.86 , Issue.11 , pp. 1146-1152
    • Redwood, C.1    Lohmann, K.2    Bing, W.3    Esposito, G.M.4    Elliott, K.5    Abdulrazzak, H.6
  • 125
    • 0033214054 scopus 로고    scopus 로고
    • Functional consequences of troponin T mutations found in hypertrophic cardiomyopathy
    • Tobacman L.S., Lin D., Butters C., Landis C., Back N., Pavlov D., et al. Functional consequences of troponin T mutations found in hypertrophic cardiomyopathy. J Biol Chem 1999, 274(40):28363-28370.
    • (1999) J Biol Chem , vol.274 , Issue.40 , pp. 28363-28370
    • Tobacman, L.S.1    Lin, D.2    Butters, C.3    Landis, C.4    Back, N.5    Pavlov, D.6
  • 126
    • 0034177712 scopus 로고    scopus 로고
    • Regulation of force and unloaded sliding speed in single thin filaments: effects of regulatory proteins and calcium
    • A 1
    • Homsher E., Lee D.M., Morris C., Pavlov D., Tobacman L.S. Regulation of force and unloaded sliding speed in single thin filaments: effects of regulatory proteins and calcium. J Physiol 2000 Apr 1, 524(Pt 1):233-243.
    • (2000) J Physiol , vol.524 , Issue.PART 1 , pp. 233-243
    • Homsher, E.1    Lee, D.M.2    Morris, C.3    Pavlov, D.4    Tobacman, L.S.5
  • 127
    • 0034759429 scopus 로고    scopus 로고
    • Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region
    • N
    • Palm T., Graboski S., Hitchcock-DeGregori S.E., Greenfield N.J. Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. Biophys J 2001 Nov, 81(5):2827-2837.
    • (2001) Biophys J , vol.81 , Issue.5 , pp. 2827-2837
    • Palm, T.1    Graboski, S.2    Hitchcock-DeGregori, S.E.3    Greenfield, N.J.4
  • 128
    • 27144438655 scopus 로고    scopus 로고
    • Increase in tension-dependent ATP consumption induced by cardiac troponin T mutation
    • N 1
    • Chandra M., Tschirgi M.L., Tardiff J.C. Increase in tension-dependent ATP consumption induced by cardiac troponin T mutation. Am J Physiol Heart Circ Physiol 2005 November 1, 289(5):H2112-2119.
    • (2005) Am J Physiol Heart Circ Physiol , vol.289 , Issue.5
    • Chandra, M.1    Tschirgi, M.L.2    Tardiff, J.C.3
  • 129
    • 85047691343 scopus 로고    scopus 로고
    • Decreased energetics in murine hearts bearing the R92Q mutation in cardiac troponin T
    • S
    • Javadpour M.M., Tardiff J.C., Pinz I., Ingwall J.S. Decreased energetics in murine hearts bearing the R92Q mutation in cardiac troponin T. J Clin Invest 2003 Sep, 112(5):768-775.
    • (2003) J Clin Invest , vol.112 , Issue.5 , pp. 768-775
    • Javadpour, M.M.1    Tardiff, J.C.2    Pinz, I.3    Ingwall, J.S.4
  • 130
    • 34548633817 scopus 로고    scopus 로고
    • R-92L and R-92W mutations in cardiac troponin T lead to distinct energetic phenotypes in intact mouse hearts
    • S 1
    • He H., Javadpour M.M., Latif F., Tardiff J.C., Ingwall J.S. R-92L and R-92W mutations in cardiac troponin T lead to distinct energetic phenotypes in intact mouse hearts. Biophys J 2007 Sep 1, 93(5):1834-1844.
    • (2007) Biophys J , vol.93 , Issue.5 , pp. 1834-1844
    • He, H.1    Javadpour, M.M.2    Latif, F.3    Tardiff, J.C.4    Ingwall, J.S.5
  • 131
    • 33748323383 scopus 로고    scopus 로고
    • Regulation of cardiac hypertrophy by intracellular signalling pathways
    • Heineke J., Molkentin J.D. Regulation of cardiac hypertrophy by intracellular signalling pathways. Nat Rev Mol Cell Biol 2006, 7(8):589-600.
    • (2006) Nat Rev Mol Cell Biol , vol.7 , Issue.8 , pp. 589-600
    • Heineke, J.1    Molkentin, J.D.2
  • 132
    • 34547610522 scopus 로고    scopus 로고
    • Knock-in mouse model of dilated cardiomyopathy caused by troponin mutation
    • J 20
    • Du C.K., Morimoto S., Nishii K., Minakami R., Ohta M., Tadano N., et al. Knock-in mouse model of dilated cardiomyopathy caused by troponin mutation. Circ Res 2007 Jul 20, 101(2):185-194.
    • (2007) Circ Res , vol.101 , Issue.2 , pp. 185-194
    • Du, C.K.1    Morimoto, S.2    Nishii, K.3    Minakami, R.4    Ohta, M.5    Tadano, N.6
  • 133
    • 50249146466 scopus 로고    scopus 로고
    • The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy
    • Ahmad F., Banerjee S.K., Lage M.L., Huang X.N., Smith S.H., Saba S., et al. The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy. PLoS ONE 2008, 3(7):e2642.
    • (2008) PLoS ONE , vol.3 , Issue.7
    • Ahmad, F.1    Banerjee, S.K.2    Lage, M.L.3    Huang, X.N.4    Smith, S.H.5    Saba, S.6
  • 134
    • 50649125630 scopus 로고    scopus 로고
    • Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice
    • J 18
    • Wen Y., Pinto J.R., Gomes A.V., Xu Y., Wang Y., Wang Y., et al. Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice. J Biol Chem 2008 Jul 18, 283(29):20484-20494.
    • (2008) J Biol Chem , vol.283 , Issue.29 , pp. 20484-20494
    • Wen, Y.1    Pinto, J.R.2    Gomes, A.V.3    Xu, Y.4    Wang, Y.5    Wang, Y.6
  • 135
    • 70149123629 scopus 로고    scopus 로고
    • Functional effects of a restrictive cardiomyopathy linked cardiac troponin I mutation (R145W) in transgenic mice
    • J 18
    • Wen Y., Xu Y., Wang Y., Pinto J.R., Potter J.D., Kerrick W.G. Functional effects of a restrictive cardiomyopathy linked cardiac troponin I mutation (R145W) in transgenic mice. J Mol Biol 2009 Jul 31.
    • (2009) J Mol Biol
    • Wen, Y.1    Xu, Y.2    Wang, Y.3    Pinto, J.R.4    Potter, J.D.5    Kerrick, W.G.6
  • 136
    • 17844363735 scopus 로고    scopus 로고
    • Effects of the mutation R145G in human cardiac troponin I on the kinetics of the contraction-relaxation cycle in isolated cardiac myofibrils
    • A 15
    • Kruger M., Zittrich S., Redwood C., Blaudeck N., James J., Robbins J., et al. Effects of the mutation R145G in human cardiac troponin I on the kinetics of the contraction-relaxation cycle in isolated cardiac myofibrils. J Physiol 2005 Apr 15, 564(Pt 2):347-357.
    • (2005) J Physiol , vol.564 , Issue.PART 2 , pp. 347-357
    • Kruger, M.1    Zittrich, S.2    Redwood, C.3    Blaudeck, N.4    James, J.5    Robbins, J.6
  • 137
    • 0035971216 scopus 로고    scopus 로고
    • Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy
    • M 30
    • Knollmann B.C., Blatt S.A., Horton K., de Freitas F., Miller T., Bell M., et al. Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy. J Biol Chem 2001 Mar 30, 276(13):10039-10048.
    • (2001) J Biol Chem , vol.276 , Issue.13 , pp. 10039-10048
    • Knollmann, B.C.1    Blatt, S.A.2    Horton, K.3    de Freitas, F.4    Miller, T.5    Bell, M.6
  • 138
    • 0034796231 scopus 로고    scopus 로고
    • Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy
    • Knollmann B.C., Potter J.D. Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. Trends Cardiovasc Med 2001, 11(5):206-212.
    • (2001) Trends Cardiovasc Med , vol.11 , Issue.5 , pp. 206-212
    • Knollmann, B.C.1    Potter, J.D.2
  • 139
    • 33746850510 scopus 로고    scopus 로고
    • Differential effect of troponin T mutations on the inotropic responsiveness of mouse hearts-role of myofilament Ca2+ sensitivity increase
    • A 15
    • Sirenko S.G., Potter J.D., Knollmann B.C. Differential effect of troponin T mutations on the inotropic responsiveness of mouse hearts-role of myofilament Ca2+ sensitivity increase. J Physiol (Lond) 2006 August 15, 575(1):201-213.
    • (2006) J Physiol (Lond) , vol.575 , Issue.1 , pp. 201-213
    • Sirenko, S.G.1    Potter, J.D.2    Knollmann, B.C.3
  • 140
    • 0000973094 scopus 로고    scopus 로고
    • Altered contractile function in heart failure
    • de Tombe P.P. Altered contractile function in heart failure. Cardiovasc Res 1998, 37:367-380.
    • (1998) Cardiovasc Res , vol.37 , pp. 367-380
    • de Tombe, P.P.1
  • 141
    • 0026433358 scopus 로고
    • Diastolic dysfunction in congestive heart failure
    • Grossman W. Diastolic dysfunction in congestive heart failure. N Engl J Med 1991, 325:1557-1564.
    • (1991) N Engl J Med , vol.325 , pp. 1557-1564
    • Grossman, W.1
  • 142
    • 73649183082 scopus 로고
    • Myofibrillar adenosine triphosphatase activity in congestive heart failure
    • M
    • Alpert N.R., Gordon M.S. Myofibrillar adenosine triphosphatase activity in congestive heart failure. Am J Physiol 1962 May, 202:940-946.
    • (1962) Am J Physiol , vol.202 , pp. 940-946
    • Alpert, N.R.1    Gordon, M.S.2
  • 143
    • 0345490810 scopus 로고    scopus 로고
    • Origin of contractile dysfunction in heart failure: calcium cycling versus myofilaments
    • M 2
    • Perez N.G., Hashimoto K., McCune S., Altschuld R.A., Marban E. Origin of contractile dysfunction in heart failure: calcium cycling versus myofilaments. Circulation 1999 Mar 2, 99(8):1077-1083.
    • (1999) Circulation , vol.99 , Issue.8 , pp. 1077-1083
    • Perez, N.G.1    Hashimoto, K.2    McCune, S.3    Altschuld, R.A.4    Marban, E.5
  • 144
    • 0037423876 scopus 로고    scopus 로고
    • Familial hypertrophic cardiomyopathy-linked mutant troponin T causes stress-induced ventricular tachycardia and Ca2+-dependent action potential remodeling
    • M 7
    • Knollmann B.C., Kirchhof P., Sirenko S.G., Degen H., Greene A.E., Schober T., et al. Familial hypertrophic cardiomyopathy-linked mutant troponin T causes stress-induced ventricular tachycardia and Ca2+-dependent action potential remodeling. Circ Res 2003 Mar 7, 92(4):428-436.
    • (2003) Circ Res , vol.92 , Issue.4 , pp. 428-436
    • Knollmann, B.C.1    Kirchhof, P.2    Sirenko, S.G.3    Degen, H.4    Greene, A.E.5    Schober, T.6
  • 145
    • 57449095883 scopus 로고    scopus 로고
    • Myofilament Ca2+ sensitization causes susceptibility to cardiac arrhythmia in mice
    • D
    • Baudenbacher F., Schober T., Pinto J.R., Sidorov V.Y., Hilliard F., Solaro R.J., et al. Myofilament Ca2+ sensitization causes susceptibility to cardiac arrhythmia in mice. J Clin Invest 2008 Dec, 118(12):3893-3903.
    • (2008) J Clin Invest , vol.118 , Issue.12 , pp. 3893-3903
    • Baudenbacher, F.1    Schober, T.2    Pinto, J.R.3    Sidorov, V.Y.4    Hilliard, F.5    Solaro, R.J.6
  • 146
    • 0037407012 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: a paradigm for myocardial energy depletion
    • M
    • Ashrafian H., Redwood C., Blair E., Watkins H. Hypertrophic cardiomyopathy: a paradigm for myocardial energy depletion. Trends Genet 2003 May, 19(5):263-268.
    • (2003) Trends Genet , vol.19 , Issue.5 , pp. 263-268
    • Ashrafian, H.1    Redwood, C.2    Blair, E.3    Watkins, H.4
  • 147
    • 37549040201 scopus 로고    scopus 로고
    • Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics
    • J
    • Alcalai R., Seidman J.G., Seidman C.E. Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol 2008 Jan, 19(1):104-110.
    • (2008) J Cardiovasc Electrophysiol , vol.19 , Issue.1 , pp. 104-110
    • Alcalai, R.1    Seidman, J.G.2    Seidman, C.E.3
  • 148
    • 0036787237 scopus 로고    scopus 로고
    • Molecular mechanisms of inherited cardiomyopathies
    • Fatkin D., Graham R.M. Molecular mechanisms of inherited cardiomyopathies. Physiol Rev 2002, 82:945-980.
    • (2002) Physiol Rev , vol.82 , pp. 945-980
    • Fatkin, D.1    Graham, R.M.2
  • 149
    • 0035909017 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease
    • S 18
    • Varnava A.M., Elliott P.M., Baboonian C., Davison F., Davies M.J., McKenna W.J. Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease. Circulation 2001 Sep 18, 104(12):1380-1384.
    • (2001) Circulation , vol.104 , Issue.12 , pp. 1380-1384
    • Varnava, A.M.1    Elliott, P.M.2    Baboonian, C.3    Davison, F.4    Davies, M.J.5    McKenna, W.J.6
  • 151
    • 0037630018 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
    • M 6
    • 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 May 6, 107(17):2227-2232.
    • (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
  • 152
    • 0037192339 scopus 로고    scopus 로고
    • Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly
    • J 29
    • Niimura H., Patton K.K., McKenna W.J., Soults J., Maron B.J., Seidman J.G., et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 2002 Jan 29, 105(4):446-451.
    • (2002) Circulation , vol.105 , Issue.4 , pp. 446-451
    • Niimura, H.1    Patton, K.K.2    McKenna, W.J.3    Soults, J.4    Maron, B.J.5    Seidman, J.G.6
  • 153
    • 68549123447 scopus 로고    scopus 로고
    • Cardiac troponin I gene mutation (Asp127Tyr) in a Chinese patient with hypertrophic cardiomyopathy
    • D
    • Sheng H.Z., Shan Q.J., Wu X., Cao K.J. Cardiac troponin I gene mutation (Asp127Tyr) in a Chinese patient with hypertrophic cardiomyopathy. Zhonghua Xin Xue Guan Bing Za Zhi 2008 Dec, 36(12):1063-1065.
    • (2008) Zhonghua Xin Xue Guan Bing Za Zhi , vol.36 , Issue.12 , pp. 1063-1065
    • Sheng, H.Z.1    Shan, Q.J.2    Wu, X.3    Cao, K.J.4
  • 154
    • 0028902929 scopus 로고
    • Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy
    • A 20
    • Watkins H., McKenna W.J., Thierfelder L., Suk H.J., 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 Apr 20, 332(16):1058-1064.
    • (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
  • 155
    • 0042779713 scopus 로고    scopus 로고
    • Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy
    • M
    • Mogensen J., Bahl A., Kubo T., Elanko N., Taylor R., McKenna W.J. Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy. J Med Genet 2003 May, 40(5):e59.
    • (2003) J Med Genet , vol.40 , Issue.5
    • Mogensen, J.1    Bahl, A.2    Kubo, T.3    Elanko, N.4    Taylor, R.5    McKenna, W.J.6
  • 156
    • 24144438908 scopus 로고    scopus 로고
    • Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects
    • S
    • Konno T., Shimizu M., Ino H., Fujino N., Hayashi K., Uchiyama K., et al. Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects. J Intern Med 2005 Sep, 258(3):216-224.
    • (2005) J Intern Med , vol.258 , Issue.3 , pp. 216-224
    • Konno, T.1    Shimizu, M.2    Ino, H.3    Fujino, N.4    Hayashi, K.5    Uchiyama, K.6
  • 157
    • 0030765610 scopus 로고    scopus 로고
    • Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
    • A
    • Kimura A., Harada H., Park J.E., Nishi H., Satoh M., Takahashi M., et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997 Aug, 16(4):379-382.
    • (1997) Nat Genet , vol.16 , Issue.4 , pp. 379-382
    • Kimura, A.1    Harada, H.2    Park, J.E.3    Nishi, H.4    Satoh, M.5    Takahashi, M.6
  • 158
    • 0041663609 scopus 로고    scopus 로고
    • Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy
    • J 29
    • Van Driest S.L., Ellsworth E.G., Ommen S.R., Tajik A.J., Gersh B.J., Ackerman M.J. Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. Circulation 2003 Jul 29, 108(4):445-451.
    • (2003) Circulation , vol.108 , Issue.4 , pp. 445-451
    • Van Driest, S.L.1    Ellsworth, E.G.2    Ommen, S.R.3    Tajik, A.J.4    Gersh, B.J.5    Ackerman, M.J.6
  • 159
    • 0030331086 scopus 로고    scopus 로고
    • Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene
    • D
    • Koga Y., Toshima H., Kimura A., Harada H., Koyanagi T., Nishi H., et al. Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene. J Card Fail 1996 Dec, 2(4 Suppl):S97-103.
    • (1996) J Card Fail , vol.2 , Issue.4 SUPPL.
    • Koga, Y.1    Toshima, H.2    Kimura, A.3    Harada, H.4    Koyanagi, T.5    Nishi, H.6
  • 160
    • 8044244822 scopus 로고    scopus 로고
    • Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy
    • D 15
    • Forissier J.F., Carrier L., Farza H., Bonne G., Bercovici J., Richard P., et al. Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. Circulation 1996 Dec 15, 94(12):3069-3073.
    • (1996) Circulation , vol.94 , Issue.12 , pp. 3069-3073
    • Forissier, J.F.1    Carrier, L.2    Farza, H.3    Bonne, G.4    Bercovici, J.5    Richard, P.6
  • 161
    • 21344464273 scopus 로고    scopus 로고
    • Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China
    • author reply 1, J 5
    • Cheng T.O. Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China. J Am Coll Cardiol 2005 Jul 5, 46(1):180-181. author reply 1.
    • (2005) J Am Coll Cardiol , vol.46 , Issue.1 , pp. 180-181
    • Cheng, T.O.1
  • 162
    • 33646757738 scopus 로고    scopus 로고
    • Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling
    • O
    • 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 Oct, 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
  • 163
    • 20844448376 scopus 로고    scopus 로고
    • Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences
    • F
    • Doolan A., Tebo M., Ingles J., Nguyen L., Tsoutsman T., Lam L., et al. Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. J Mol Cell Cardiol 2005 Feb, 38(2):387-393.
    • (2005) J Mol Cell Cardiol , vol.38 , Issue.2 , pp. 387-393
    • Doolan, A.1    Tebo, M.2    Ingles, J.3    Nguyen, L.4    Tsoutsman, T.5    Lam, L.6
  • 164
    • 0032725342 scopus 로고    scopus 로고
    • A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy
    • F
    • Varnava A., Baboonian C., Davison F., de Cruz L., Elliott P.M., Davies M.J., et al. A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. Heart 1999 Nov, 82(5):621-624.
    • (1999) Heart , vol.82 , Issue.5 , pp. 621-624
    • Varnava, A.1    Baboonian, C.2    Davison, F.3    de Cruz, L.4    Elliott, P.M.5    Davies, M.J.6
  • 165
    • 0034264444 scopus 로고    scopus 로고
    • Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy
    • S
    • D'Cruz L.G., Baboonian C., Phillimore H.E., Taylor R., Elliott P.M., Varnava A., et al. Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy. J Med Genet 2000 Sep, 37(9):E18.
    • (2000) J Med Genet , vol.37 , Issue.9
    • D'Cruz, L.G.1    Baboonian, C.2    Phillimore, H.E.3    Taylor, R.4    Elliott, P.M.5    Varnava, A.6
  • 166
    • 7044264544 scopus 로고    scopus 로고
    • Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy
    • N 2
    • Van Driest S.L., Vasile V.C., Ommen S.R., Will M.L., Tajik A.J., Gersh B.J., et al. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol 2004 Nov 2, 44(9):1903-1910.
    • (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
  • 167
    • 0031080070 scopus 로고    scopus 로고
    • Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy
    • F
    • Nakajima-Taniguchi C., Matsui H., Fujio Y., Nagata S., Kishimoto T., Yamauchi-Takihara K. Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. J Mol Cell Cardiol 1997 Feb, 29(2):839-843.
    • (1997) J Mol Cell Cardiol , vol.29 , Issue.2 , pp. 839-843
    • Nakajima-Taniguchi, C.1    Matsui, H.2    Fujio, Y.3    Nagata, S.4    Kishimoto, T.5    Yamauchi-Takihara, K.6
  • 168
    • 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
    • A 4
    • 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 Aug 4, 98(5):391-397.
    • (1998) Circulation , vol.98 , Issue.5 , pp. 391-397
    • Anan, R.1    Shono, H.2    Kisanuki, A.3    Arima, S.4    Nakao, S.5    Tanaka, H.6
  • 169
    • 0242572234 scopus 로고    scopus 로고
    • Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany
    • D 1
    • Torricelli F., Girolami F., Olivotto I., Passerini I., Frusconi S., Vargiu D., et al. Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany. Am J Cardiol 2003 Dec 1, 92(11):1358-1362.
    • (2003) Am J Cardiol , vol.92 , Issue.11 , pp. 1358-1362
    • Torricelli, F.1    Girolami, F.2    Olivotto, I.3    Passerini, I.4    Frusconi, S.5    Vargiu, D.6
  • 170
    • 16644381549 scopus 로고    scopus 로고
    • A novel missense mutation, K124N, in the troponin T gene of Chinese populations with hypertrophic cardiomyopathy
    • A 17
    • An F.S., Zhang Y., Li D.Q., Yang X.S., Li L., Zhang C., et al. A novel missense mutation, K124N, in the troponin T gene of Chinese populations with hypertrophic cardiomyopathy. Zhonghua Yi Xue Za Zhi 2004 Aug 17, 84(16):1340-1343.
    • (2004) Zhonghua Yi Xue Za Zhi , vol.84 , Issue.16 , pp. 1340-1343
    • An, F.S.1    Zhang, Y.2    Li, D.Q.3    Yang, X.S.4    Li, L.5    Zhang, C.6
  • 171
    • 0034680324 scopus 로고    scopus 로고
    • Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy
    • O 17
    • Ho C.Y., Lever H.M., DeSanctis R., Farver C.F., Seidman J.G., Seidman C.E. Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. Circulation 2000 Oct 17, 102(16):1950-1955.
    • (2000) Circulation , vol.102 , Issue.16 , pp. 1950-1955
    • Ho, C.Y.1    Lever, H.M.2    DeSanctis, R.3    Farver, C.F.4    Seidman, J.G.5    Seidman, C.E.6
  • 172
    • 0041866796 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients
    • A
    • Garcia-Castro M., Reguero J.R., Batalla A., Diaz-Molina B., Gonzalez P., Alvarez V., et al. Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients. Clin Chem 2003 Aug, 49(8):1279-1285.
    • (2003) Clin Chem , vol.49 , Issue.8 , pp. 1279-1285
    • Garcia-Castro, M.1    Reguero, J.R.2    Batalla, A.3    Diaz-Molina, B.4    Gonzalez, P.5    Alvarez, V.6
  • 173
    • 0038125906 scopus 로고    scopus 로고
    • Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
    • J
    • Morner S., Richard P., Kazzam E., Hellman U., Hainque B., Schwartz K., et al. Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. J Mol Cell Cardiol 2003 Jul, 35(7):841-849.
    • (2003) J Mol Cell Cardiol , vol.35 , Issue.7 , pp. 841-849
    • Morner, S.1    Richard, P.2    Kazzam, E.3    Hellman, U.4    Hainque, B.5    Schwartz, K.6
  • 174
    • 0036145490 scopus 로고    scopus 로고
    • A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy
    • J 1
    • Fujino N., Shimizu M., Ino H., Yamaguchi M., Yasuda T., Nagata M., et al. A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy. Am J Cardiol 2002 Jan 1, 89(1):29-33.
    • (2002) Am J Cardiol , vol.89 , Issue.1 , pp. 29-33
    • Fujino, N.1    Shimizu, M.2    Ino, H.3    Yamaguchi, M.4    Yasuda, T.5    Nagata, M.6
  • 175
    • 0033540007 scopus 로고    scopus 로고
    • Late-onset hypertrophic cardiomyopathy caused by a mutation in the cardiac troponin T gene
    • D 9
    • Elliott P.M., D'Cruz L., McKenna W.J. Late-onset hypertrophic cardiomyopathy caused by a mutation in the cardiac troponin T gene. N Engl J Med 1999 Dec 9, 341(24):1855-1856.
    • (1999) N Engl J Med , vol.341 , Issue.24 , pp. 1855-1856
    • Elliott, P.M.1    D'Cruz, L.2    McKenna, W.J.3
  • 176
    • 4544379083 scopus 로고    scopus 로고
    • A new mutation (Arg-278-Pro) in the cardiac troponin T gene (TNNT2) was identified in one patient with typical hypertrophic cardiomyopathy (HCM)
    • Erdmann F.J., Wischke S., Riedel K., Kallisch H., Fleck M.E., Regitz-Zagrosek F.V. A new mutation (Arg-278-Pro) in the cardiac troponin T gene (TNNT2) was identified in one patient with typical hypertrophic cardiomyopathy (HCM). Circulation 1998, 98(1273):1998.
    • (1998) Circulation , vol.98 , Issue.1273 , pp. 1998
    • Erdmann, F.J.1    Wischke, S.2    Riedel, K.3    Kallisch, H.4    Fleck, M.E.5    Regitz-Zagrosek, F.V.6
  • 177
    • 0842283230 scopus 로고    scopus 로고
    • Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy
    • J 31
    • Murphy R.T., Mogensen J., Shaw A., Kubo T., Hughes S., McKenna W.J. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 2004 Jan 31, 363(9406):371-372.
    • (2004) Lancet , vol.363 , Issue.9406 , pp. 371-372
    • Murphy, R.T.1    Mogensen, J.2    Shaw, A.3    Kubo, T.4    Hughes, S.5    McKenna, W.J.6
  • 178
    • 21044450647 scopus 로고    scopus 로고
    • Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort
    • J
    • Miliou A., Anastasakis A., D'Cruz L.G., Theopistou A., Rigopoulos A., Rizos I., et al. Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort. Heart 2005 Jul, 91(7):966-967.
    • (2005) Heart , vol.91 , Issue.7 , pp. 966-967
    • Miliou, A.1    Anastasakis, A.2    D'Cruz, L.G.3    Theopistou, A.4    Rigopoulos, A.5    Rizos, I.6
  • 179
    • 8144224216 scopus 로고    scopus 로고
    • Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy
    • N 16
    • Mogensen J., Murphy R.T., Shaw T., Bahl A., Redwood C., Watkins H., et al. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol 2004 Nov 16, 44(10):2033-2040.
    • (2004) J Am Coll Cardiol , vol.44 , Issue.10 , pp. 2033-2040
    • Mogensen, J.1    Murphy, R.T.2    Shaw, T.3    Bahl, A.4    Redwood, C.5    Watkins, H.6
  • 180
    • 55149117580 scopus 로고    scopus 로고
    • Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy
    • Hershberger R.C., Parks S.B., Kushner J.D., Li D., Ludwigsen S., Jakobs P., et al. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clinical and Translational Science 2008, 1(1):21-26.
    • (2008) Clinical and Translational Science , vol.1 , Issue.1 , pp. 21-26
    • Hershberger, R.C.1    Parks, S.B.2    Kushner, J.D.3    Li, D.4    Ludwigsen, S.5    Jakobs, P.6
  • 181
  • 182
    • 4744338855 scopus 로고    scopus 로고
    • Russell MW. Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity
    • Stefanelli C.B., Rosenthal A., Borisov A.B., Ensing G.J. Russell MW. Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity. Mol Genet Metab 2004 Sep-Oct, 83(1-2):188-196.
    • Mol Genet Metab
    • Stefanelli, C.B.1    Rosenthal, A.2    Borisov, A.B.3    Ensing, G.J.4
  • 183
    • 77951623465 scopus 로고    scopus 로고
    • Dilated cardiomyopathy caused by a novel TNNT2 mutation-Added value of genetic testing in the correct identification of affected subjects
    • Mar 25
    • Van Acker H, De Sutter J, Vandekerckhove K, de Ravel TJ, Verhaaren H, De Backer J. Dilated cardiomyopathy caused by a novel TNNT2 mutation-Added value of genetic testing in the correct identification of affected subjects. Int J Cardiol 2009 Mar 25.
    • (2009) Int J Cardiol
    • Van Acker, H.1    De Sutter, J.2    Vandekerckhove, K.3    de Ravel, T.J.4    Verhaaren, H.5    De Backer, J.6
  • 184
    • 0036174030 scopus 로고    scopus 로고
    • Cardiactroponin T lysine 210 deletion in a family with dilated cardiomyopathy
    • Feb
    • Hanson EL, Jakobs PM, Keegan H, Coates K, Bousman S, Dienel NH, et al. Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy. J Card Fail 2002 Feb;8(1):28-32.
    • (2002) J Card Fail , vol.8 , Issue.1 , pp. 28-32
    • Hanson, E.L.1    Jakobs, P.M.2    Keegan, H.3    Coates, K.4    Bousman, S.5    Dienel, N.H.6
  • 185
    • 33646848039 scopus 로고    scopus 로고
    • Infantile restrictive cardiomyopathy resulting from a mutation in the cardiactroponin T gene
    • May
    • Peddy SB, Vricella LA, Crosson JE, Oswald GL, Cohn RD, Cameron DE, et al. Infantile restrictive cardiomyopathy resulting from a mutation in the cardiactroponin T gene. Pediatrics 2006 May;117(5):1830-3.
    • (2006) Pediatrics , vol.117 , Issue.5 , pp. 1830-3
    • Peddy, S.B.1    Vricella, L.A.2    Crosson, J.E.3    Oswald, G.L.4    Cohn, R.D.5    Cameron, D.E.6


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