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Volumn 103, Issue 10, 1999, Pages

α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FAMILIAL DISEASE; GENE LOCATION; GENETIC LINKAGE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MISSENSE MUTATION; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

EID: 18744433901     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI6460     Document Type: Article
Times cited : (352)

References (34)
  • 1
    • 0030761751 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy
    • Maron, B.J. 1997. Hypertrophic cardiomyopathy. Lancet. 350:127-133.
    • (1997) Lancet , vol.350 , pp. 127-133
    • Maron, B.J.1
  • 2
    • 0032555955 scopus 로고    scopus 로고
    • Familial hypertrophic cardiomyopathy: From mutations to functional defects
    • Bonne, G., Carrier, L., Richard, P., Hainque, B., and Schwartz, K. 1998. Familial hypertrophic cardiomyopathy: from mutations to functional defects. Circ. Res. 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
  • 3
    • 0031690161 scopus 로고    scopus 로고
    • Familial hypertrophic cardiomyopathy: A paradigm of the cardiac hypertrophic response to injury
    • Marian, A.J., and Roberts, R. 1998. Familial hypertrophic cardiomyopathy: a paradigm of the cardiac hypertrophic response to injury. Ann. Med. 30(Suppl. 1):24-32.
    • (1998) Ann. Med. , vol.30 , Issue.SUPPL. 1 , pp. 24-32
    • Marian, A.J.1    Roberts, R.2
  • 4
    • 0032006681 scopus 로고    scopus 로고
    • The role of cytoskeletal proteins in cardiomyopathies
    • Towbin, J.A. 1998. The role of cytoskeletal proteins in cardiomyopathies. Curr. Opin. Cell Biol. 10:131-139.
    • (1998) Curr. Opin. Cell Biol. , vol.10 , pp. 131-139
    • Towbin, J.A.1
  • 5
    • 0029143611 scopus 로고
    • Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3
    • MacRae, C.A., et al. 1995. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J. Clin. Invest. 96:1216-1220.
    • (1995) J. Clin. Invest. , vol.96 , pp. 1216-1220
    • MacRae, C.A.1
  • 6
    • 15644366960 scopus 로고    scopus 로고
    • Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy
    • Flavigny, J., et al. 1998. Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. J. Mol. Med. 76:208-214.
    • (1998) J. Mol. Med. , vol.76 , pp. 208-214
    • Flavigny, J.1
  • 7
    • 0031066438 scopus 로고    scopus 로고
    • Symposium on gene abnormalities in medical diseases. III. Molecular genetics of hypertrophic cardiomyopathy in Japan
    • Kimura, A. 1997. Symposium on gene abnormalities in medical diseases. III. Molecular genetics of hypertrophic cardiomyopathy in Japan. Intern. Med. 36:152-154.
    • (1997) Intern. Med. , vol.36 , pp. 152-154
    • Kimura, A.1
  • 8
    • 0030842476 scopus 로고    scopus 로고
    • Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population
    • Charron, P., et al. 1997. Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population. Circulation. 96:214-219.
    • (1997) Circulation , vol.96 , pp. 214-219
    • Charron, P.1
  • 10
    • 0032580520 scopus 로고    scopus 로고
    • Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
    • Niimura, H., et al. 1998. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N. Engl. J. Med. 338:1248-1257.
    • (1998) N. Engl. J. Med. , vol.338 , pp. 1248-1257
    • Niimura, H.1
  • 11
    • 0032468727 scopus 로고    scopus 로고
    • Assignment of the human skeletal muscle α-actin gene (ACTA1) to chromosome 1q42.13-q42.2 by radiation hybrid mapping
    • In press
    • Mogensen, J., Kruse, T.A., and Børglum, A.D. Assignment of the human skeletal muscle α-actin gene (ACTA1) to chromosome 1q42.13-q42.2 by radiation hybrid mapping. Cytogenet. Cell Genet. In press.
    • Cytogenet. Cell Genet.
    • Mogensen, J.1    Kruse, T.A.2    Børglum, A.D.3
  • 12
    • 0344634847 scopus 로고    scopus 로고
    • The Stanford Human Genome Center Accessed April 18
    • The Stanford Human Genome Center. www.shgc.stanford.edu. Accessed April 18, 1998.
    • (1998)
  • 13
    • 0345065381 scopus 로고    scopus 로고
    • The Wellcome Trust Center for Human Genetics Accessed April 18
    • The Wellcome Trust Center for Human Genetics. www.well.ox.ac.uk. Accessed April 18, 1998.
    • (1998)
  • 14
    • 0026762993 scopus 로고
    • Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopachy of several French families
    • Schwartz, K., et al. 1992. Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopachy of several French families. Circ. Res. 71:3-8.
    • (1992) Circ. Res. , vol.71 , pp. 3-8
    • Schwartz, K.1
  • 15
    • 0032944758 scopus 로고    scopus 로고
    • Refined localization of the human α-tropomyosin gene (TPM1) by genetic mapping
    • In press
    • Mogensen, J., Kruse, T.A., and Børglum, A.D. Refined localization of the human α-tropomyosin gene (TPM1) by genetic mapping. Cytogenet. Cell Genet. In press.
    • Cytogenet. Cell Genet.
    • Mogensen, J.1    Kruse, T.A.2    Børglum, A.D.3
  • 16
    • 0024514081 scopus 로고
    • A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene
    • Litt, M., and Luty, J.A. 1989. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am. J. Hum. Genet. 44:397-401.
    • (1989) Am. J. Hum. Genet. , vol.44 , pp. 397-401
    • Litt, M.1    Luty, J.A.2
  • 17
    • 0031420799 scopus 로고    scopus 로고
    • Assignment of the human cardiac troponin I gene (TNNI3) to chromosome 19q13.4 by radiation hybrid mapping
    • Mogensen, J., Kruse, T.A., and Borglum, A.D. 1997. Assignment of the human cardiac troponin I gene (TNNI3) to chromosome 19q13.4 by radiation hybrid mapping. Cytogenet. Cell Genet. 79:272-273.
    • (1997) Cytogenet. Cell Genet. , vol.79 , pp. 272-273
    • Mogensen, J.1    Kruse, T.A.2    Borglum, A.D.3
  • 18
    • 0345496921 scopus 로고    scopus 로고
    • The Whitehead Institute Accessed April 18
    • The Whitehead Institute. www.genome.wi.mit.edu. Accessed April 18, 1998.
    • (1998)
  • 19
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib, C., et al. 1996. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 380:152-154.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1
  • 20
    • 0027997478 scopus 로고
    • Identification of potential hot spots in the carboxy-terminal part of the Epstein-Barr virus (EBV) BNLF-1 gene in both malignant and benign EBV-associated diseases: High frequency of a 30-bp deletion in Malaysian and Danish peripheral T-cell lymphomas
    • Sandvej, K., Peh, S.C., Andresen, B.S., and Pallesen, G. 1994. Identification of potential hot spots in the carboxy-terminal part of the Epstein-Barr virus (EBV) BNLF-1 gene in both malignant and benign EBV-associated diseases: high frequency of a 30-bp deletion in Malaysian and Danish peripheral T-cell lymphomas. Blood. 84:4053-4060.
    • (1994) Blood , vol.84 , pp. 4053-4060
    • Sandvej, K.1    Peh, S.C.2    Andresen, B.S.3    Pallesen, G.4
  • 21
    • 2642646163 scopus 로고
    • Molecular structure and evolutionary origin of human cardiac muscle actin gene
    • Hamada, H., Petrino, M.G., and Kakunaga, T. 1982. Molecular structure and evolutionary origin of human cardiac muscle actin gene. Proc. Natl. Acad. Sci. USA. 79:5901-5905.
    • (1982) Proc. Natl. Acad. Sci. USA , vol.79 , pp. 5901-5905
    • Hamada, H.1    Petrino, M.G.2    Kakunaga, T.3
  • 22
    • 0023908571 scopus 로고
    • Quantitation of aortic regurgitation by colour coded cross-sectional Doppler echocardiography
    • Baumgartner, H., Kratzer, H., Helmreich, G., and Kuhn, P. 1988. Quantitation of aortic regurgitation by colour coded cross-sectional Doppler echocardiography. Eur. Heart J. 9:380-387.
    • (1988) Eur. Heart J. , vol.9 , pp. 380-387
    • Baumgartner, H.1    Kratzer, H.2    Helmreich, G.3    Kuhn, P.4
  • 23
    • 0025848197 scopus 로고
    • Skeletal actin mRNA increases in the human heart during ontogenic development and is the major isoform of control and failing adult hearts
    • Boheler, K.R., et al. 1991. Skeletal actin mRNA increases in the human heart during ontogenic development and is the major isoform of control and failing adult hearts. J. Clin. Invest. 88:323-330.
    • (1991) J. Clin. Invest. , vol.88 , pp. 323-330
    • Boheler, K.R.1
  • 24
    • 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
  • 25
    • 0344203212 scopus 로고    scopus 로고
    • Protein alignment database Accessed December 10
    • Protein alignment database. www-nbrf.georgetown.edu/cgi-bbin/nbrfget?uid-FA0722&db-8. Accessed December 10, 1998.
    • (1998)
  • 26
    • 0030994919 scopus 로고    scopus 로고
    • Models of thin filament assembly in cardiac and skeletal muscle
    • Gregorio, C.C. 1997. Models of thin filament assembly in cardiac and skeletal muscle. Cell Struct. Funct. 22:191-195.
    • (1997) Cell Struct. Funct. , vol.22 , pp. 191-195
    • Gregorio, C.C.1
  • 27
    • 0026595121 scopus 로고
    • Binding sites involved in the interaction of actin with the N-terminal region of dystrophin
    • Levine, B.A., Moir, A.J., Patchell, V.B., and Perry, S.V. 1992. Binding sites involved in the interaction of actin with the N-terminal region of dystrophin. FEBS Lett. 298:44-48.
    • (1992) FEBS Lett. , vol.298 , pp. 44-48
    • Levine, B.A.1    Moir, A.J.2    Patchell, V.B.3    Perry, S.V.4
  • 28
    • 0027226230 scopus 로고
    • Structure of the actin-myosin complex and its implications for muscle contraction
    • Rayment, I., et al. 1993. Structure of the actin-myosin complex and its implications for muscle contraction. Science. 261:58-65.
    • (1993) Science , vol.261 , pp. 58-65
    • Rayment, I.1
  • 29
    • 0023071735 scopus 로고
    • Structural aspects of troponin-tropomyosin regulation of skeletal muscle contraction
    • Zot, A.S., and Potter, J.D. 1987. Structural aspects of troponin-tropomyosin regulation of skeletal muscle contraction. Annu. Rev. Biophys. Biophys. Chem. 16:535-559.
    • (1987) Annu. Rev. Biophys. Biophys. Chem. , vol.16 , pp. 535-559
    • Zot, A.S.1    Potter, J.D.2
  • 30
    • 0031001970 scopus 로고    scopus 로고
    • Rescue of cardiac alpha-actin-deficient mice by enteric smooth muscle gamma-actin
    • Kumar, A., et al. 1997. Rescue of cardiac alpha-actin-deficient mice by enteric smooth muscle gamma-actin. Proc. Natl. Acad. Sci. USA. 94:4406-4411.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 4406-4411
    • Kumar, A.1
  • 31
    • 0029807438 scopus 로고    scopus 로고
    • Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathy
    • Vikstrom, K.L., Factor, S.M., and Leinwand, L.A. 1996. Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathy. Mol. Med. 2:556-567.
    • (1996) Mol. Med. , vol.2 , pp. 556-567
    • Vikstrom, K.L.1    Factor, S.M.2    Leinwand, L.A.3
  • 32
    • 0019421810 scopus 로고
    • Critical analysis of endomyocardial biopsies from patients suspected of having cardiomyopathy. I. Morphological and morphometric aspects
    • Baandrup, U. and Olsen, E.G. 1981. Critical analysis of endomyocardial biopsies from patients suspected of having cardiomyopathy. I. Morphological and morphometric aspects. Br. Heart J. 45:475-486.
    • (1981) Br. Heart J. , vol.45 , pp. 475-486
    • Baandrup, U.1    Olsen, E.G.2
  • 34
    • 0344634843 scopus 로고    scopus 로고
    • Protein database Accessed December 10
    • Protein database. www.pdb.bnl.gov, entry: 1ATN. Accessed December 10, 1998.
    • (1998)


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