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Volumn 29, Issue 3, 1997, Pages 635-640

Clinical features of hypertrophic cardiomyopathy caused by mutation of a 'hot spot' in the alpha-tropomyosin gene

Author keywords

[No Author keywords available]

Indexed keywords

TROPOMYOSIN;

EID: 0031042881     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0735-1097(96)00538-4     Document Type: Article
Times cited : (113)

References (20)
  • 1
    • 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, et al. α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994;77:701-12.
    • (1994) Cell , vol.77 , pp. 701-712
    • Thierfelder, L.1    Watkins, H.2    MacRae, C.3
  • 2
    • 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, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nature Genet 1995;11:434-7.
    • (1995) Nature Genet , vol.11 , pp. 434-437
    • Watkins, H.1    Conner, D.2    Thierfelder, L.3
  • 3
    • 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, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nature Genet 1995;11:438-40.
    • (1995) Nature Genet , vol.11 , pp. 438-440
    • Bonne, G.1    Carrier, L.2    Bercovici, J.3
  • 4
    • 0025040392 scopus 로고
    • A molecular basis for familial hypertrophie cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation
    • Geisterfer-Lowrence AAT, Kass S, Tanigawa G, et al. A molecular basis for familial hypertrophie cardiomyopathy: a β cardiac myosin heavy chain gene missense mutation. Cell 1990;62:999-1006.
    • (1990) Cell , vol.62 , pp. 999-1006
    • Geisterfer-Lowrence, A.A.T.1    Kass, S.2    Tanigawa, G.3
  • 5
    • 0026573969 scopus 로고
    • Characteristics and prognostic implications of myosin missense mutations in familial hypertrophie cardiomyopathy
    • Watkins H, Rosenzweig A, Hwang DS, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophie cardiomyopathy. N Engl J Med 1992;326:1108-14.
    • (1992) N Engl J Med , vol.326 , pp. 1108-1114
    • Watkins, H.1    Rosenzweig, A.2    Hwang, D.S.3
  • 6
    • 15844400653 scopus 로고    scopus 로고
    • Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
    • Poetter K, Jiang H, Hassanzadeh S, et al. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nature Genet 1996;13:63-9.
    • (1996) Nature Genet , vol.13 , pp. 63-69
    • Poetter, K.1    Jiang, H.2    Hassanzadeh, S.3
  • 7
    • 0028902929 scopus 로고
    • Mutations in the genes for cardiac troponin T and a tropomyosin mutations in hypertrophic cardiomyopathy
    • Watkins H, McKenna WJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin T and a tropomyosin mutations in hypertrophic cardiomyopathy. N Engl J Med 1995;332:1058-64.
    • (1995) N Engl J Med , vol.332 , pp. 1058-1064
    • Watkins, H.1    McKenna, W.J.2    Thierfelder, L.3
  • 8
    • 0027209383 scopus 로고
    • Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene
    • Solomon SD, Wolff S, Watkins H, et al. Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. J Am Coll Cardiol 1993;22:498-505.
    • (1993) J Am Coll Cardiol , vol.22 , pp. 498-505
    • Solomon, S.D.1    Wolff, S.2    Watkins, H.3
  • 11
    • 0028849972 scopus 로고
    • Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: Morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients
    • Klues HG, Sniffers A, Maron BJ. Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients. J Am Coll Cardiol 1995;26:1699-1708.
    • (1995) J Am Coll Cardiol , vol.26 , pp. 1699-1708
    • Klues, H.G.1    Sniffers, A.2    Maron, B.J.3
  • 12
    • 0029143611 scopus 로고
    • Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3
    • MacRae C, Ghaisas N, Kass S, et al. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J Clin Invest 1995;96:1216-20.
    • (1995) J Clin Invest , vol.96 , pp. 1216-1220
    • MacRae, C.1    Ghaisas, N.2    Kass, S.3
  • 13
    • 0027180678 scopus 로고
    • A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2
    • Thierfelder L, MacRae C, Watkins H, et al. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci USA 1993;90:6270-4.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 6270-6274
    • Thierfelder, L.1    MacRae, C.2    Watkins, H.3
  • 14
    • 0343441631 scopus 로고
    • Determination of chromosomal aneuploidy using paraffin-embedded tissue
    • Dracopoli NC, Haines JL, Korf BR, et al., editors. New York: Wiley & Sons
    • Schofield DE. Determination of chromosomal aneuploidy using paraffin-embedded tissue. In: Dracopoli NC, Haines JL, Korf BR, et al., editors. Current Protocols in Human Genetics. New York: Wiley & Sons, 1994:8.8.1-8.8.9.
    • (1994) Current Protocols in Human Genetics , pp. 881-889
    • Schofield, D.E.1
  • 15
    • 0027954269 scopus 로고
    • Prognostic implications of novel β-cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy
    • Anan R, Greve G, Thierfelder L, et al. Prognostic implications of novel β-cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest 1994;93:280-5.
    • (1994) J Clin Invest , vol.93 , pp. 280-285
    • Anan, R.1    Greve, G.2    Thierfelder, L.3
  • 16
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet 1988;78:151-5.
    • (1988) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufian, H.2
  • 17
    • 0023180728 scopus 로고
    • Alpha-tropomyosin gene organization: Alternative splicing of duplicated isotype-specific exons accounts for the production of smooth and striated muscle isoforms
    • Ruiz-Opazo N, Nadal-Ginard B. Alpha-tropomyosin gene organization: alternative splicing of duplicated isotype-specific exons accounts for the production of smooth and striated muscle isoforms. J Biol Chem 1987;262: 4755-65.
    • (1987) J Biol Chem , vol.262 , pp. 4755-4765
    • Ruiz-Opazo, N.1    Nadal-Ginard, B.2
  • 18
    • 0006395074 scopus 로고
    • A family with obstructive cardiomyopathy (asymmetrical hypertrophy)
    • Hollman A, Goodwin JF, Teare D, Renwick JW. A family with obstructive cardiomyopathy (asymmetrical hypertrophy). Br Heart J 1960;22:449-56.
    • (1960) Br Heart J , vol.22 , pp. 449-456
    • Hollman, A.1    Goodwin, J.F.2    Teare, D.3    Renwick, J.W.4
  • 19
    • 0029089583 scopus 로고
    • Familial hypertrophic cardiomyopathy: A genetic model of cardiac hypertrophy
    • Watkins H, Seidman JG, Seidman CE. Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy. Hum Mol Genet 1995;4:1721-7.
    • (1995) Hum Mol Genet , vol.4 , pp. 1721-1727
    • Watkins, H.1    Seidman, J.G.2    Seidman, C.E.3
  • 20
    • 0028032071 scopus 로고
    • Molecular genetics. Therapy or terror?
    • Roberts R. Molecular genetics. Therapy or terror? Circulation 1994;89:499-500.
    • (1994) Circulation , vol.89 , pp. 499-500
    • Roberts, R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.