메뉴 건너뛰기




Volumn 32, Issue 6, 1998, Pages 1709-1716

The cardiac β-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; ASPARAGINE; ASPARTIC ACID; DNA; MYOSIN HEAVY CHAIN; SERINE; TROPOMYOSIN; TRYPTOPHAN;

EID: 0344878860     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0735-1097(98)00448-3     Document Type: Article
Times cited : (64)

References (36)
  • 1
    • 0023130164 scopus 로고
    • Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology, and therapy I
    • Maron BJ, Bonow RO, Cannon RO, Leon MB, Epstein SE. Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology, and therapy I. N Engl J Med 1987;316:780-9.
    • (1987) N Engl J Med , vol.316 , pp. 780-789
    • Maron, B.J.1    Bonow, R.O.2    Cannon, R.O.3    Leon, M.B.4    Epstein, S.E.5
  • 2
    • 0023128040 scopus 로고
    • Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology, and therapy II
    • Maron BJ, Bonow RO, Cannon RO, Leon MB, Epstein SE. Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology, and therapy II. N Engl J Med 1987;316:844-52.
    • (1987) N Engl J Med , vol.316 , pp. 844-852
    • Maron, B.J.1    Bonow, R.O.2    Cannon, R.O.3    Leon, M.B.4    Epstein, S.E.5
  • 4
    • 0025040392 scopus 로고
    • A molecular basis for familial hypertrophic cardiomyopathy: A beta-cardiac myosin heavy chain gene missense mutation
    • Geisterfer Lowrance AA, Kass S, Tanigawa G, 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
  • 5
    • 0027070276 scopus 로고
    • Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy
    • Marian AJ, Yu QT, Mares A Jr, Hill R, Roberts R, Perryman MB. Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy. J Clin Invest 1992;90:2156-65.
    • (1992) J Clin Invest , vol.90 , pp. 2156-2165
    • Marian, A.J.1    Yu, Q.T.2    Mares A., Jr.3    Hill, R.4    Roberts, R.5    Perryman, M.B.6
  • 6
    • 0026573969 scopus 로고
    • Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    • Watkins H, Rosenzweig A, Hwang DS, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic 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
  • 7
    • 0028178083 scopus 로고
    • Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
    • Thierfelder L, Watkins H, MacRae C, et al. Alpha-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
  • 8
    • 0028902929 scopus 로고
    • Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy
    • Watkins H, McKenna WJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin T and alpha-tropomyosin 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
  • 9
    • 0029164976 scopus 로고
    • Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy
    • Nakajima-Taniguchi C, Matsui H, Nagata S, Kishimoto T, Yamauchi Takihara K. Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy. J Mol Cell Cardiol 1995;27:2053-8.
    • (1995) J Mol Cell Cardiol , vol.27 , pp. 2053-2058
    • Nakajima-Taniguchi, C.1    Matsui, H.2    Nagata, S.3    Kishimoto, T.4    Yamauchi Takihara, K.5
  • 10
    • 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. Nat Genet 1995;11:434-7.
    • (1995) Nat Genet , vol.11 , pp. 434-437
    • Watkins, H.1    Conner, D.2    Thierfelder, L.3
  • 11
    • 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. Nat Genet 1995;11:438-40.
    • (1995) Nat Genet , vol.11 , pp. 438-440
    • Bonne, G.1    Carrier, L.2    Bercovici, J.3
  • 12
    • 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. Nat Genet 1996;13:63-69.
    • (1996) Nat Genet , vol.13 , pp. 63-69
    • Poetter, K.1    Jiang, H.2    Hassanzadeh, S.3
  • 13
    • 0030765610 scopus 로고    scopus 로고
    • Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
    • Kimura A, Harada H, Park JE, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997;16:379-82.
    • (1997) Nat Genet , vol.16 , pp. 379-382
    • Kimura, A.1    Harada, H.2    Park, J.E.3
  • 14
    • 0029166817 scopus 로고
    • Recent advances in the molecular genetics of hypertrophic cardiomyopathy
    • Marian AJ, Roberts R. Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation 1995;92:1336-47.
    • (1995) Circulation , vol.92 , pp. 1336-1347
    • Marian, A.J.1    Roberts, R.2
  • 15
    • 0029794498 scopus 로고    scopus 로고
    • Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene
    • Yamauchi-Takihara K, Nakajima-Taniguchi C, Matsui H, et al. Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene. Heart 1996;76:63-5.
    • (1996) Heart , vol.76 , pp. 63-65
    • Yamauchi-Takihara, K.1    Nakajima-Taniguchi, C.2    Matsui, H.3
  • 18
    • 0027507885 scopus 로고
    • Disease gene mapping in isolated human populations: The example of Finland
    • de la Chapelle A. Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 1993;30:857-65.
    • (1993) J Med Genet , vol.30 , pp. 857-865
    • De La Chapelle, A.1
  • 19
    • 0018231715 scopus 로고
    • Recommendations regarding quantitation in M-mode echocardiography: Results of a survey of echocardiographic measurements
    • Sahn DJ, DeMaria A, Kisslo J, Weyman A. Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements. Circulation 1978;58:1072-83.
    • (1978) Circulation , vol.58 , pp. 1072-1083
    • Sahn, D.J.1    DeMaria, A.2    Kisslo, J.3    Weyman, A.4
  • 20
    • 0031049263 scopus 로고    scopus 로고
    • Experience from clinical genetics in hypertrophic cardiomyopathy: Proposal for new diagnostic criteria in adult members of affected families
    • McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M. Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart 1997;77: 130-2.
    • (1997) Heart , vol.77 , pp. 130-132
    • McKenna, W.J.1    Spirito, P.2    Desnos, M.3    Dubourg, O.4    Komajda, M.5
  • 21
    • 0027933306 scopus 로고
    • Age and body surface area related normal upper and lower limits of M mode echocardiographic measurements and left ventricular volume and mass from infancy to early adulthood
    • Huwez FU, Houston AB, Watson J, McLaughlin S, Macfarlane PW. Age and body surface area related normal upper and lower limits of M mode echocardiographic measurements and left ventricular volume and mass from infancy to early adulthood. Br Heart J 1994;72:276-80.
    • (1994) Br Heart J , vol.72 , pp. 276-280
    • Huwez, F.U.1    Houston, A.B.2    Watson, J.3    McLaughlin, S.4    Macfarlane, P.W.5
  • 22
    • 0025007358 scopus 로고
    • The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product
    • Jaenicke T, Diederich KW, Haas W, et al. The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product. Genomics 1990;8:194-206.
    • (1990) Genomics , vol.8 , pp. 194-206
    • Jaenicke, T.1    Diederich, K.W.2    Haas, W.3
  • 23
    • 0025295458 scopus 로고
    • Complete sequence and organization of the human cardiac beta-myosin heavy chain gene
    • Liew CC, Sole MJ, Yamauchi-Takihara K, et al. Complete sequence and organization of the human cardiac beta-myosin heavy chain gene. Nucleic Acids Res 1990;18:3647-51.
    • (1990) Nucleic Acids Res , vol.18 , pp. 3647-3651
    • Liew, C.C.1    Sole, M.J.2    Yamauchi-Takihara, K.3
  • 24
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989;86:2766-70.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 25
    • 0024337096 scopus 로고
    • Direct sequencing from low-melt agarose with Sequenase
    • Kretz KA, Carson GS, O'Brien JS. Direct sequencing from low-melt agarose with Sequenase. Nucleic Acids Res 1989;17:5864.
    • (1989) Nucleic Acids Res , vol.17 , pp. 5864
    • Kretz, K.A.1    Carson, G.S.2    O'Brien, J.S.3
  • 26
    • 0026762993 scopus 로고
    • Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopathy of several French families
    • Schwartz K, Beckmann J, Dufour C, et al. Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopathy of several French families. Circ Res 1992;71:3-8.
    • (1992) Circ Res , vol.71 , pp. 3-8
    • Schwartz, K.1    Beckmann, J.2    Dufour, C.3
  • 27
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984;36:460-5.
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 29
    • 0029422556 scopus 로고
    • Messages from an isolate: Lessons from the Finnish gene pool
    • Peltonen L, Pekkarinen P, Aaltonen J. Messages from an isolate: lessons from the Finnish gene pool. Biol Chem Hoppe Seyler 1995;376:697-704.
    • (1995) Biol Chem Hoppe Seyler , vol.376 , pp. 697-704
    • Peltonen, L.1    Pekkarinen, P.2    Aaltonen, J.3
  • 30
    • 0028471958 scopus 로고
    • Genetic heterogeneity of hypertrophic cardiomyopathy in Japanese
    • Machida M. Genetic heterogeneity of hypertrophic cardiomyopathy in Japanese. Hokkaido Igaku Zasshi 1994;69:1024-34.
    • (1994) Hokkaido Igaku Zasshi , vol.69 , pp. 1024-1034
    • Machida, M.1
  • 31
    • 0031042881 scopus 로고    scopus 로고
    • Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene
    • Coviello DA, Maron BJ, Spirito P, et al. Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene. J Am Coll Cardiol 1997;29:635-40.
    • (1997) J Am Coll Cardiol , vol.29 , pp. 635-640
    • Coviello, D.A.1    Maron, B.J.2    Spirito, P.3
  • 32
    • 0027053075 scopus 로고
    • Molecular basis of familial chylomicronemia: Mutations in the lipoprotein lipase and apolipoprotein C-II genes
    • Reina M, Brunzell JD, Deeb SS. Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes. J Lipid Res 1992;33:1823-32.
    • (1992) J Lipid Res , vol.33 , pp. 1823-1832
    • Reina, M.1    Brunzell, J.D.2    Deeb, S.S.3
  • 33
    • 0028179511 scopus 로고
    • The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity
    • Nevin DN, Brunzell JD, Deeb SS. The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity. Arterioscler Thromb 1994;14:869-73.
    • (1994) Arterioscler Thromb , vol.14 , pp. 869-873
    • Nevin, D.N.1    Brunzell, J.D.2    Deeb, S.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.