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Volumn 115, Issue 3, 2005, Pages 518-526

Genetic causes of human heart failure

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; DYSTROPHIN; GLYCOPROTEIN; RYANODINE RECEPTOR;

EID: 14644427123     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI24351     Document Type: Review
Times cited : (222)

References (96)
  • 2
    • 0035936792 scopus 로고    scopus 로고
    • The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms
    • Seidman, J.G., and Seidman, C. 2001. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 104:557-567.
    • (2001) Cell , vol.104 , pp. 557-567
    • Seidman, J.G.1    Seidman, C.2
  • 4
    • 0038124325 scopus 로고    scopus 로고
    • Molecular epidemiology of hypertrophic cardiomyopathy
    • Morita, H., et al. 2002. Molecular epidemiology of hypertrophic cardiomyopathy. Cold Spring Harb. Symp. Quant. Biol. 67:383-388.
    • (2002) Cold Spring Harb. Symp. Quant. Biol. , vol.67 , pp. 383-388
    • Morita, H.1
  • 5
    • 0037630018 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
    • Richard, P., et al. 2003. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 107:2227-2232.
    • (2003) Circulation , vol.107 , pp. 2227-2232
    • Richard, P.1
  • 6
    • 0028902929 scopus 로고
    • Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy
    • Watkins, H., et al. 1995. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N. Engl. J. Med. 332:1058-1064.
    • (1995) N. Engl. J. Med. , vol.332 , pp. 1058-1064
    • Watkins, H.1
  • 7
    • 0031052924 scopus 로고    scopus 로고
    • Sudden death due to troponin T mutations
    • Moolman, J.C., et al. 1997. Sudden death due to troponin T mutations. J. Am. Coll. Cardiol. 29:549-555.
    • (1997) J. Am. Coll. Cardiol. , vol.29 , pp. 549-555
    • Moolman, J.C.1
  • 8
    • 0027954269 scopus 로고
    • Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy
    • Anan, R., et al. 1994. Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J. Clin. Invest. 93:280-285.
    • (1994) J. Clin. Invest. , vol.93 , pp. 280-285
    • Anan, R.1
  • 9
    • 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
    • Fujino, N., et al. 2002. 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. 89:29-33.
    • (2002) Am. J. Cardiol. , vol.89 , pp. 29-33
    • Fujino, N.1
  • 10
    • 0034622609 scopus 로고    scopus 로고
    • Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene
    • Kokado, H., et al. 2000. Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene. Circulation. 102:663-669.
    • (2000) Circulation , vol.102 , pp. 663-669
    • Kokado, H.1
  • 11
    • 0034710851 scopus 로고    scopus 로고
    • Novel mutation in the alpha-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy
    • Regitz-Zagrosek, V., Erdmann, J., Wellnhofer, E., Raible, J., and Fleck, E. 2000. Novel mutation in the alpha-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy. Circulation. 102:E112-E116.
    • (2000) Circulation , vol.102
    • Regitz-Zagrosek, V.1    Erdmann, J.2    Wellnhofer, E.3    Raible, J.4    Fleck, E.5
  • 12
    • 0034646743 scopus 로고    scopus 로고
    • Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy
    • Tyska, M.J., et al. 2000. Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. Circ. Res. 86:737-744.
    • (2000) Circ. Res. , vol.86 , pp. 737-744
    • Tyska, M.J.1
  • 13
    • 3042621438 scopus 로고    scopus 로고
    • Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium
    • Palmer, B.M., et al. 2004. Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium. Am. J. Physiol. Heart Circ. Physiol. 287:H91-H99.
    • (2004) Am. J. Physiol. Heart Circ. Physiol. , vol.287
    • Palmer, B.M.1
  • 14
    • 3042745306 scopus 로고    scopus 로고
    • Effect of cardiac myosin binding protein-C on mechanoenergetics in mouse myocardium
    • Palmer, B.M., et al. 2004. Effect of cardiac myosin binding protein-C on mechanoenergetics in mouse myocardium. Circ. Res. 94:1615-1622.
    • (2004) Circ. Res. , vol.94 , pp. 1615-1622
    • Palmer, B.M.1
  • 15
    • 0037155775 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice
    • Harris, S.P., et al. 2002. Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice. Circ. Res. 90:594-601.
    • (2002) Circ. Res. , vol.90 , pp. 594-601
    • Harris, S.P.1
  • 16
    • 0030067394 scopus 로고    scopus 로고
    • A mouse model of familial hypertrophic cardiomyopathy
    • Geisterfer-Lowrance, A.A., et al. 1996. A mouse model of familial hypertrophic cardiomyopathy. Science. 272:731-734.
    • (1996) Science , vol.272 , pp. 731-734
    • Geisterfer-Lowrance, A.A.1
  • 17
    • 3142570567 scopus 로고    scopus 로고
    • Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice
    • Carrier, L., et al. 2004. Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice. Cardiovasc. Res. 63:293-304.
    • (2004) Cardiovasc. Res. , vol.63 , pp. 293-304
    • Carrier, L.1
  • 18
    • 0032532087 scopus 로고    scopus 로고
    • Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice
    • Oberst, L., et al. 1998. Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice. J. Clin. Invest. 102:1498-1505.
    • (1998) J. Clin. Invest. , vol.102 , pp. 1498-1505
    • Oberst, L.1
  • 19
    • 0032943836 scopus 로고    scopus 로고
    • Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the α cardiac myosin heavy chain gene
    • Fatkin, D., et al. 1999. Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the α cardiac myosin heavy chain gene. J. Clin. Invest. 103:147-153.
    • (1999) J. Clin. Invest. , vol.103 , pp. 147-153
    • Fatkin, D.1
  • 20
    • 0032741970 scopus 로고    scopus 로고
    • Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice
    • McConnell, B.K., et al. 1999. Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. J. Clin. Invest. 104:1235-1244.
    • (1999) J. Clin. Invest. , vol.104 , pp. 1235-1244
    • McConnell, B.K.1
  • 21
    • 0028332683 scopus 로고
    • Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy
    • Nishi, H., et al. 1994. Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 200:549-556.
    • (1994) Biochem. Biophys. Res. Commun. , vol.200 , pp. 549-556
    • Nishi, H.1
  • 22
    • 0034680324 scopus 로고    scopus 로고
    • Homozygous mutation in cardiac troponin T: Implications for hypertrophic cardiomyopathy
    • Ho, C.Y., et al. 2000. Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. Circulation. 102:1950-1955.
    • (2000) Circulation , vol.102 , pp. 1950-1955
    • Ho, C.Y.1
  • 23
    • 0034619996 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
    • Kamisago, M., et al. 2000. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N. Engl. J. Med. 343:1688-1696.
    • (2000) N. Engl. J. Med. , vol.343 , pp. 1688-1696
    • Kamisago, M.1
  • 24
    • 0842283230 scopus 로고    scopus 로고
    • Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy
    • Murphy, R.T., et al. 2004. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet. 363:371-372.
    • (2004) Lancet , vol.363 , pp. 371-372
    • Murphy, R.T.1
  • 25
    • 0034971165 scopus 로고    scopus 로고
    • Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy
    • Olson, T.M., Kishimoto, N.Y., Whitby, F.G., and Michels, V.V. 2001. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J. Mol. Cell. Cardiol. 33:723-732.
    • (2001) J. Mol. Cell. Cardiol. , vol.33 , pp. 723-732
    • Olson, T.M.1    Kishimoto, N.Y.2    Whitby, F.G.3    Michels, V.V.4
  • 26
    • 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., and Keating, M.T. 1998. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 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
  • 27
    • 0036478897 scopus 로고    scopus 로고
    • Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
    • Gerull, B., et al. 2002. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat. Genet. 30:201-204.
    • (2002) Nat. Genet. , vol.30 , pp. 201-204
    • Gerull, B.1
  • 28
    • 18444408379 scopus 로고    scopus 로고
    • Titin mutations as the molecular basis for dilated cardiomyopathy
    • Itoh-Satoh, M., et al. 2002. Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 291:385-393.
    • (2002) Biochem. Biophys. Res. Commun. , vol.291 , pp. 385-393
    • Itoh-Satoh, M.1
  • 29
    • 0029738727 scopus 로고    scopus 로고
    • Disruption of muscle architecture and myocardial degeneration in mice lacking desmin
    • Milner, D.J., Weitzer, G., Tran, D., Bradley, A., and Capetanaki, Y. 1996. Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. J. Cell Biol. 134:1255-1270.
    • (1996) J. Cell Biol. , vol.134 , pp. 1255-1270
    • Milner, D.J.1    Weitzer, G.2    Tran, D.3    Bradley, A.4    Capetanaki, Y.5
  • 30
    • 0343963762 scopus 로고    scopus 로고
    • Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-Linked dilated cardiomyopathy
    • Franz, W.M., et al. 2000. Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-Linked dilated cardiomyopathy. Lancet. 355:1781-1785.
    • (2000) Lancet , vol.355 , pp. 1781-1785
    • Franz, W.M.1
  • 31
    • 0033017374 scopus 로고    scopus 로고
    • Enteroviral protease 2A cleaves dystrophin: Evidence of cytoskeletal disruption in an acquired cardiomyopathy
    • Badorff, C., et al. 1999. Enteroviral protease 2A cleaves dystrophin: evidence of cytoskeletal disruption in an acquired cardiomyopathy. Nat. Med. 5:320-326.
    • (1999) Nat. Med. , vol.5 , pp. 320-326
    • Badorff, C.1
  • 32
    • 3042711961 scopus 로고    scopus 로고
    • Desmin-related cardiomyopathy in transgenic mice: A cardiac amyloidosis
    • Sanbe, A., et al. 2004. Desmin-related cardiomyopathy in transgenic mice: a cardiac amyloidosis. Proc. Natl. Acad. Sci U. S. A. 101:10132-10136.
    • (2004) Proc. Natl. Acad. Sci U. S. A. , vol.101 , pp. 10132-10136
    • Sanbe, A.1
  • 33
    • 1842434556 scopus 로고    scopus 로고
    • Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy
    • doi:10.1172/JCI200420410
    • Wheeler, M.T., et al. 2004. Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy. J. Clin. Invest. 113:668-675. doi:10.1172/JCI200420410.
    • (2004) J. Clin. Invest. , vol.113 , pp. 668-675
    • Wheeler, M.T.1
  • 34
    • 0037192309 scopus 로고    scopus 로고
    • Metavinculin mutations alter actin interaction in dilated cardiomyopathy
    • Olson, T.M., et al. 2002. Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation. 105:431-437.
    • (2002) Circulation , vol.105 , pp. 431-437
    • Olson, T.M.1
  • 35
    • 0037184992 scopus 로고    scopus 로고
    • The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy
    • Knoll, R., et al. 2002. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell. 111:943-955.
    • (2002) Cell , vol.111 , pp. 943-955
    • Knoll, R.1
  • 36
    • 0344873698 scopus 로고    scopus 로고
    • Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction
    • Vatta, M., et al. 2003. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J. Am. Coll. Cardiol. 42:2014-2027.
    • (2003) J. Am. Coll. Cardiol. , vol.42 , pp. 2014-2027
    • Vatta, M.1
  • 37
    • 0037453074 scopus 로고    scopus 로고
    • Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy
    • Geier, C, et al. 2003. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation. 107:1390-1395.
    • (2003) Circulation , vol.107 , pp. 1390-1395
    • Geier, C.1
  • 38
    • 9644281144 scopus 로고    scopus 로고
    • Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy
    • Hayashi, T., et al. 2004. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J. Am. Coll. Cardiol. 44:2192-2201.
    • (2004) J. Am. Coll. Cardiol. , vol.44 , pp. 2192-2201
    • Hayashi, T.1
  • 39
    • 0030933063 scopus 로고    scopus 로고
    • MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure
    • Arber, S., et al. 1997. MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. Cell. 88:393-403.
    • (1997) Cell , vol.88 , pp. 393-403
    • Arber, S.1
  • 40
    • 11144355499 scopus 로고    scopus 로고
    • Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice
    • doi:10.1172/JCI200419448
    • Nikolova, V., et al. 2004. Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. J. Clin. Invest. 113:357-369. doi:10.1172/JCI200419448.
    • (2004) J. Clin. Invest. , vol.113 , pp. 357-369
    • Nikolova, V.1
  • 41
    • 1542317663 scopus 로고    scopus 로고
    • Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
    • doi:10.1172/JCI200419670
    • Lammerding, J., et al. 2004. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J. Clin. Invest. 113:370-378. doi:10.1172/JCI200419670.
    • (2004) J. Clin. Invest. , vol.113 , pp. 370-378
    • Lammerding, J.1
  • 42
    • 0028347223 scopus 로고
    • Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology
    • McKenna, W.J., et al. 1994. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br. Heart J. 71:215-218.
    • (1994) Br. Heart J. , vol.71 , pp. 215-218
    • McKenna, W.J.1
  • 43
    • 0034679297 scopus 로고    scopus 로고
    • Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
    • McKoy, G., et al. 2000. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 355:2119-2124.
    • (2000) Lancet , vol.355 , pp. 2119-2124
    • McKoy, G.1
  • 44
    • 0034326902 scopus 로고    scopus 로고
    • Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
    • Norgett, E.E., et al. 2000. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum. Mol. Genet. 9:2761-2766.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2761-2766
    • Norgett, E.E.1
  • 45
    • 18644363134 scopus 로고    scopus 로고
    • Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
    • Rampazzo, A., et al. 2002. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am. J. Hum. Genet. 71:1200-1206.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1200-1206
    • Rampazzo, A.1
  • 46
    • 11444264507 scopus 로고    scopus 로고
    • Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
    • Gerull, B., et al. 2004. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat. Genet. 36:1162-1164.
    • (2004) Nat. Genet. , vol.36 , pp. 1162-1164
    • Gerull, B.1
  • 47
    • 0035253502 scopus 로고    scopus 로고
    • Identification of mutations in rhe cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
    • Tiso, N., et al. 2001. Identification of mutations in rhe cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum. Mol. Genet. 10:189-194.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 189-194
    • Tiso, N.1
  • 48
    • 0028918471 scopus 로고
    • Cardiac involvement in mitochondria! diseases. A study on 17 patients with documented mitochondrial DNA defects
    • Anan, R., et al. 1995. Cardiac involvement in mitochondria! diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation. 91:955-961.
    • (1995) Circulation , vol.91 , pp. 955-961
    • Anan, R.1
  • 49
    • 0029962873 scopus 로고    scopus 로고
    • Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A)
    • Santorelli, F.M., et al. 1996. Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). Am. J. Hum. Genet. 58:933-939.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 933-939
    • Santorelli, F.M.1
  • 50
    • 0033366515 scopus 로고    scopus 로고
    • Maternally inherited cardiomyopathy: An atypical presentation of the mtDNA 12S rRNA gene A1555G mutation
    • Santorelli, F.M., et al. 1999. Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am. J. Hum. Genet. 64:295-300.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 295-300
    • Santorelli, F.M.1
  • 51
    • 18244413442 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy
    • Arbustini, E., et al. 1998. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. Am. J. Pathol. 153:1501-1510.
    • (1998) Am. J. Pathol. , vol.153 , pp. 1501-1510
    • Arbustini, E.1
  • 52
    • 0036796263 scopus 로고    scopus 로고
    • Phenotypic diversity in hypertrophic cardiomyopathy
    • Arad, M., Seidman, J.G., and Seidman, C.E. 2002. Phenotypic diversity in hypertrophic cardiomyopathy. Hum. Mol. Genet. 11:2499-2506.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2499-2506
    • Arad, M.1    Seidman, J.G.2    Seidman, C.E.3
  • 53
    • 0037323971 scopus 로고    scopus 로고
    • AMP-activated protein kinase, super metabolic regulator
    • Kemp, B.E., et al. 2003. AMP-activated protein kinase, super metabolic regulator. Biochem. Soc. Trans. 31:162-168.
    • (2003) Biochem. Soc. Trans. , vol.31 , pp. 162-168
    • Kemp, B.E.1
  • 54
    • 0035797839 scopus 로고    scopus 로고
    • Increased adenosine monophosphate-activated protein kinase activity in rat hearts with pressure-overload hypertrophy
    • Tian, R., Musi, N., D'Agostino, J., Hirshman, M.F., and Goodyear, L.J. 2001. Increased adenosine monophosphate-activated protein kinase activity in rat hearts with pressure-overload hypertrophy. Circulation. 104:1664-1669.
    • (2001) Circulation , vol.104 , pp. 1664-1669
    • Tian, R.1    Musi, N.2    D'Agostino, J.3    Hirshman, M.F.4    Goodyear, L.J.5
  • 55
    • 0037782349 scopus 로고    scopus 로고
    • Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy
    • Arad, M., et al. 2003. Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation. 107:2850-2856.
    • (2003) Circulation , vol.107 , pp. 2850-2856
    • Arad, M.1
  • 56
    • 0022065296 scopus 로고
    • Enzymes and metabolites of glycogen metabolism in canine cardiac Purkinje fibers
    • Henry, C.G., and Lowry, O.H. 1985. Enzymes and metabolites of glycogen metabolism in canine cardiac Purkinje fibers. Am. J. Physiol. 248:H599-H605.
    • (1985) Am. J. Physiol. , vol.248
    • Henry, C.G.1    Lowry, O.H.2
  • 57
    • 0021875959 scopus 로고
    • The conduction and cardiac sympathetic systems: Metabolic aspects
    • Kubler, W., Schomig, A., and Senges, J. 1985. The conduction and cardiac sympathetic systems: metabolic aspects. J. Am. Coll. Cardiol. 5:157B-161B.
    • (1985) J. Am. Coll. Cardiol. , vol.5
    • Kubler, W.1    Schomig, A.2    Senges, J.3
  • 58
    • 0026773110 scopus 로고
    • A comparative enzyme histochemical study of glucose metabolism in the conduction system of mammalian hearts
    • Gabrielli, F., Aita, M., Arturi, E., and Alcini, E. 1992. A comparative enzyme histochemical study of glucose metabolism in the conduction system of mammalian hearts. Cell. Mol. Biol. 38:449-455.
    • (1992) Cell. Mol. Biol. , vol.38 , pp. 449-455
    • Gabrielli, F.1    Aita, M.2    Arturi, E.3    Alcini, E.4
  • 59
    • 1842482414 scopus 로고    scopus 로고
    • Protection from cardiac arrhythmia through ryanodine receptor-stabilizing protein calstabin2
    • Wehrens, X.H., et al. 2004. Protection from cardiac arrhythmia through ryanodine receptor-stabilizing protein calstabin2. Science. 304:292-296.
    • (2004) Science , vol.304 , pp. 292-296
    • Wehrens, X.H.1
  • 60
    • 0035969990 scopus 로고    scopus 로고
    • Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
    • Laitinen, P.J., et al. 2001. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation. 103:485-490.
    • (2001) Circulation , vol.103 , pp. 485-490
    • Laitinen, P.J.1
  • 61
    • 0035895322 scopus 로고    scopus 로고
    • Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
    • Priori, S.G., et al. 2001. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 103:196-200.
    • (2001) Circulation , vol.103 , pp. 196-200
    • Priori, S.G.1
  • 62
    • 0035205336 scopus 로고    scopus 로고
    • A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel
    • Lahat, H., et al. 2001. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am. J. Hum. Genet. 69:1378-1384.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1378-1384
    • Lahat, H.1
  • 63
    • 0037131020 scopus 로고    scopus 로고
    • Absence of calsequesrrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia
    • Postma, A.V., et al. 2002. Absence of calsequesrrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ. Res. 91:e21-e26.
    • (2002) Circ. Res. , vol.91
    • Postma, A.V.1
  • 64
    • 0037708928 scopus 로고    scopus 로고
    • FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death
    • Wehrens, X.H., et al. 2003. FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell. 113:829-840.
    • (2003) Cell , vol.113 , pp. 829-840
    • Wehrens, X.H.1
  • 65
    • 0033653534 scopus 로고    scopus 로고
    • 2+ response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy
    • 2+ response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J. Clin. Invest. 106:1351-1359.
    • (2000) J. Clin. Invest. , vol.106 , pp. 1351-1359
    • Fatkin, D.1
  • 66
    • 0036117921 scopus 로고    scopus 로고
    • The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model
    • doi:10.1172/JCI200214677
    • Semsarian, C., et al. 2002. The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J. Clin. Invest. 109:1013-1020. doi:10.1172/JCI200214677.
    • (2002) J. Clin. Invest. , vol.109 , pp. 1013-1020
    • Semsarian, C.1
  • 67
    • 0037133555 scopus 로고    scopus 로고
    • Propranolol prevents the development of heart failure by restoring FKBP12.6-mediated stabilization of ryanodine receptor
    • Doi, M., et al. 2002. Propranolol prevents the development of heart failure by restoring FKBP12.6-mediated stabilization of ryanodine receptor. Circulation. 105:1374-1379.
    • (2002) Circulation , vol.105 , pp. 1374-1379
    • Doi, M.1
  • 68
    • 0037469180 scopus 로고    scopus 로고
    • FKBP12.6-mediated stabilization of calcium-release channel (ryanodine receptor) as a novel therapeutic strategy against heart failure
    • Yano, M., et al. 2003. FKBP12.6-mediated stabilization of calcium-release channel (ryanodine receptor) as a novel therapeutic strategy against heart failure. Circulation. 107:477-484.
    • (2003) Circulation , vol.107 , pp. 477-484
    • Yano, M.1
  • 69
    • 0037470512 scopus 로고    scopus 로고
    • Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
    • Schmitt, J.P., et al. 2003. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science. 299:1410-1413.
    • (2003) Science , vol.299 , pp. 1410-1413
    • Schmitt, J.P.1
  • 70
    • 85047687537 scopus 로고    scopus 로고
    • Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human
    • doi:10.1172/JCI200317892
    • Haghighi, K., et al. 2003. Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J. Clin. Invest. 111:869-876. doi:10.1172/JCI200317892.
    • (2003) J. Clin. Invest. , vol.111 , pp. 869-876
    • Haghighi, K.1
  • 71
    • 0027932798 scopus 로고
    • Targeted ablation of the phospholamban gene is associated with markedly enhanced myocardial contractility and loss of beta-agonist stimulation
    • Luo, W., et al. 1994. Targeted ablation of the phospholamban gene is associated with markedly enhanced myocardial contractility and loss of beta-agonist stimulation. Circ. Res. 75:401-409.
    • (1994) Circ. Res. , vol.75 , pp. 401-409
    • Luo, W.1
  • 72
    • 0033615645 scopus 로고    scopus 로고
    • Chronic phospholamban-sarcoplasmic reticulum calcium ATPase interaction is the critical calcium cycling defect in dilated cardiomyopathy
    • Minamisawa, S., et al. 1999. Chronic phospholamban-sarcoplasmic reticulum calcium ATPase interaction is the critical calcium cycling defect in dilated cardiomyopathy. Cell. 99:313-322.
    • (1999) Cell , vol.99 , pp. 313-322
    • Minamisawa, S.1
  • 73
    • 0347004545 scopus 로고    scopus 로고
    • Phospholamban is required for CaMKII-dependent recovery of Ca transients and SR Ca reuptake during acidosis in cardiac myocytes
    • DeSantiago, J., Maier, L.S., and Bers, D.M. 2004. Phospholamban is required for CaMKII-dependent recovery of Ca transients and SR Ca reuptake during acidosis in cardiac myocytes. J. Mol. Cell. Cardiol. 36:67-74.
    • (2004) J. Mol. Cell. Cardiol. , vol.36 , pp. 67-74
    • DeSantiago, J.1    Maier, L.S.2    Bers, D.M.3
  • 74
    • 0033593328 scopus 로고    scopus 로고
    • Impaired cardiac performance in heterozygous mice with a null mutation in the sarco(endo)plasmic reticulum Ca2+-ATPase isoform 2 (SERCA2) gene
    • Periasamy, M., et al. 1999. Impaired cardiac performance in heterozygous mice with a null mutation in the sarco(endo)plasmic reticulum Ca2+-ATPase isoform 2 (SERCA2) gene. J. Biol. Chem. 274:2556-2562.
    • (1999) J. Biol. Chem. , vol.274 , pp. 2556-2562
    • Periasamy, M.1
  • 75
    • 0036789964 scopus 로고    scopus 로고
    • Kir6.2 is required for adaptation to stress
    • Zingman, L.V., et al. 2002. Kir6.2 is required for adaptation to stress. Proc. Natl. Acad. Sci. U. S. A. 99:13278-13283.
    • (2002) Proc. Natl. Acad. Sci. U. S. A. , vol.99 , pp. 13278-13283
    • Zingman, L.V.1
  • 76
    • 12144290256 scopus 로고    scopus 로고
    • ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating
    • Bienengraeber, M., et al. 2004. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat. Genet. 36:382-387.
    • (2004) Nat. Genet. , vol.36 , pp. 382-387
    • Bienengraeber, M.1
  • 77
    • 0027184211 scopus 로고
    • Csx: A murine homeobox-containing gene specifically expressed in the developing heart
    • Komuro, I., and Izumo, S. 1993. Csx: a murine homeobox-containing gene specifically expressed in the developing heart. Proc. Natl. Acad. Sci. U. S. A. 90:8145-8149.
    • (1993) Proc. Natl. Acad. Sci. U. S. A. , vol.90 , pp. 8145-8149
    • Komuro, I.1    Izumo, S.2
  • 78
    • 0029090829 scopus 로고
    • Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5
    • Lyons, I., et al. 1995. Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5. Genes Dev. 9:1654-1666.
    • (1995) Genes Dev. , vol.9 , pp. 1654-1666
    • Lyons, I.1
  • 79
    • 0032907924 scopus 로고    scopus 로고
    • The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development
    • Tanaka, M., Chen, Z., Bartunkova, S., Yamasaki, N., and Izumo, S. 1999. The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development. Development. 126:1269-1280.
    • (1999) Development , vol.126 , pp. 1269-1280
    • Tanaka, M.1    Chen, Z.2    Bartunkova, S.3    Yamasaki, N.4    Izumo, S.5
  • 80
    • 0032479573 scopus 로고    scopus 로고
    • Congenital heart disease caused by mutations in the transcription factor NKX2-5
    • Schott, J.J., et al. 1998. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science. 281:108-111.
    • (1998) Science , vol.281 , pp. 108-111
    • Schott, J.J.1
  • 81
    • 4444223413 scopus 로고    scopus 로고
    • Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies
    • Kasahara, H., and Benson, D.W. 2004. Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. Cardiovasc. Res. 64:40-51.
    • (2004) Cardiovasc. Res. , vol.64 , pp. 40-51
    • Kasahara, H.1    Benson, D.W.2
  • 82
    • 0034634279 scopus 로고    scopus 로고
    • Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5
    • Biben, C., et al. 2000. Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. Circ. Res. 87:888-895.
    • (2000) Circ. Res. , vol.87 , pp. 888-895
    • Biben, C.1
  • 83
    • 0038463543 scopus 로고    scopus 로고
    • A mouse model of congenital heart disease: Cardiac arrhythmias and atrial septal defect caused by haploinsufficiency of the cardiac transcription factor Csx/Nkx2.5
    • Tanaka, M., et al. 2002. A mouse model of congenital heart disease: cardiac arrhythmias and atrial septal defect caused by haploinsufficiency of the cardiac transcription factor Csx/Nkx2.5. Cold Spring Harb. Symp. Quant. Biol. 67:317-325.
    • (2002) Cold Spring Harb. Symp. Quant. Biol. , vol.67 , pp. 317-325
    • Tanaka, M.1
  • 84
    • 0034947445 scopus 로고    scopus 로고
    • Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein
    • doi:10.1172/JCI200112694
    • Kasahara, H., et al. 2001. Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein. J. Clin. Invest. 108:189-201. doi:10.1172/JCI200112694.
    • (2001) J. Clin. Invest. , vol.108 , pp. 189-201
    • Kasahara, H.1
  • 85
    • 0037025368 scopus 로고    scopus 로고
    • Csx/Nkx2-5 is required for homeostasis and survival of cardiac myocytes in the adult heart
    • Toko, H., et al. 2002. Csx/Nkx2-5 is required for homeostasis and survival of cardiac myocytes in the adult heart. J. Biol. Chem. 277:24735-24743.
    • (2002) J. Biol. Chem. , vol.277 , pp. 24735-24743
    • Toko, H.1
  • 86
    • 0032540267 scopus 로고    scopus 로고
    • A calcineurin-dependent transcriptional pathway for cardiac hypertrophy
    • Molkentin, J.D., et al. 1998. A calcineurin-dependent transcriptional pathway for cardiac hypertrophy. Cell. 93:215-228.
    • (1998) Cell , vol.93 , pp. 215-228
    • Molkentin, J.D.1
  • 87
    • 19944423058 scopus 로고    scopus 로고
    • Mice lacking calsarcin-1 are sensitized to calcineurin signaling and show accelerated cardiomyopathy in response to pathological biomechanical stress
    • Frey, N., et al. 2004. Mice lacking calsarcin-1 are sensitized to calcineurin signaling and show accelerated cardiomyopathy in response to pathological biomechanical stress. Nat. Med. 10:1336-1343.
    • (2004) Nat. Med. , vol.10 , pp. 1336-1343
    • Frey, N.1
  • 88
    • 0037162697 scopus 로고    scopus 로고
    • Class II histone deacetylases act as signal-responsive repressors of cardiac hypertrophy
    • Zhang, C.L., et al. 2002. Class II histone deacetylases act as signal-responsive repressors of cardiac hypertrophy. Cell. 110:479-488.
    • (2002) Cell , vol.110 , pp. 479-488
    • Zhang, C.L.1
  • 89
    • 18644374460 scopus 로고    scopus 로고
    • Hop is an unusual homeobox gene that modulates cardiac development
    • Chen, F., et al. 2002. Hop is an unusual homeobox gene that modulates cardiac development. Cell. 110:713-723.
    • (2002) Cell , vol.110 , pp. 713-723
    • Chen, F.1
  • 90
    • 18644364557 scopus 로고    scopus 로고
    • Modulation of cardiac growth and development by HOP, an unusual homeodomain protein
    • Shin, C.H., et al. 2002. Modulation of cardiac growth and development by HOP, an unusual homeodomain protein. Cell. 110:725-735.
    • (2002) Cell , vol.110 , pp. 725-735
    • Shin, C.H.1
  • 91
    • 85047694248 scopus 로고    scopus 로고
    • Cardiac hypertrophy and histone deacetylase-dependent transcriptional repression mediated by the atypical homeodomain protein Hop
    • doi:10.1172/JCI200319137
    • Kook, H., et al. 2003. Cardiac hypertrophy and histone deacetylase-dependent transcriptional repression mediated by the atypical homeodomain protein Hop. J. Clin. Invest. 112:863-871. doi:10.1172/JCI200319137.
    • (2003) J. Clin. Invest. , vol.112 , pp. 863-871
    • Kook, H.1
  • 92
    • 1642402966 scopus 로고    scopus 로고
    • Cardiac histone acetylation-therapeutic opportunities abound
    • McKinsey, T.A., and Olson, E.N. 2004. Cardiac histone acetylation-therapeutic opportunities abound. Trends Genet. 20:206-213.
    • (2004) Trends Genet. , vol.20 , pp. 206-213
    • McKinsey, T.A.1    Olson, E.N.2
  • 93
    • 0036143320 scopus 로고    scopus 로고
    • The cardiac phenotype induced by PPARα overexpression mimics that caused by diabetes mellitus
    • doi:10.1172/JCI200214080
    • Finck, B.N., et al. 2002. The cardiac phenotype induced by PPARα overexpression mimics that caused by diabetes mellitus. J. Clin. Invest. 109:121-130. doi:10.1172/JCI200214080.
    • (2002) J. Clin. Invest. , vol.109 , pp. 121-130
    • Finck, B.N.1
  • 94
    • 0037066014 scopus 로고    scopus 로고
    • Peroxisome proliferator-activated receptor gamma plays a critical role in inhibition of cardiac hypertrophy in vitro and in vivo
    • Asakawa, M., et al. 2002. Peroxisome proliferator-activated receptor gamma plays a critical role in inhibition of cardiac hypertrophy in vitro and in vivo. Circulation. 105:1240-1246.
    • (2002) Circulation , vol.105 , pp. 1240-1246
    • Asakawa, M.1
  • 95
    • 0033621590 scopus 로고    scopus 로고
    • RXRα overexpression in cardiomyocytes causes dilated cardiomyopathy but fails to rescue myocardial hypoplasia in RXRα-null fetuses
    • Subbarayan, V., et al. 2000. RXRα overexpression in cardiomyocytes causes dilated cardiomyopathy but fails to rescue myocardial hypoplasia in RXRα-null fetuses. J. Clin. Invest. 105:387-394.
    • (2000) J. Clin. Invest. , vol.105 , pp. 387-394
    • Subbarayan, V.1
  • 96
    • 0034673647 scopus 로고    scopus 로고
    • Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
    • Dalakas, M.C., et al. 2000. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N. Engl. J. Med. 342:770-780.
    • (2000) N. Engl. J. Med. , vol.342 , pp. 770-780
    • Dalakas, M.C.1


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