메뉴 건너뛰기




Volumn 33, Issue 4, 2001, Pages 655-670

The molecular genetic basis for hypertrophic cardiomyopathy

Author keywords

Cardiomyopathy; Genetics; Hypertrophy; Mutation; Transgenic animals

Indexed keywords

MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN; TROPONIN;

EID: 0034976642     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1006/jmcc.2001.1340     Document Type: Conference Paper
Times cited : (389)

References (113)
  • 5
    • 0018378062 scopus 로고
    • Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum of patients with hypertrophic cardiomyopathy
    • (1979) Circulation , vol.59 , pp. 689-706
    • Maron, B.J.1    Roberts, W.C.2
  • 9
    • 85031518353 scopus 로고    scopus 로고
    • (2000)
  • 13
    • 0022542030 scopus 로고
    • Developmental and functional adaptation of contractile proteins in cardiac and skeletal muscles
    • (1986) Physiol Rev , vol.66 , pp. 710-771
    • Swynghedauw, B.1
  • 34
    • 0026629472 scopus 로고
    • Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu-Val mutation and a 403Arg - Gln mutation
    • (1992) Circulation , vol.86 , pp. 345-352
    • Epstein, N.D.1    Cohn, G.M.2    Cyran, F.3    Fananapazir, L.4
  • 40
    • 0031114657 scopus 로고    scopus 로고
    • Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy
    • (1997) J Investig Med , vol.45 , pp. 191-196
    • Abchee, A.1    Marian, A.J.2
  • 52
    • 0030052266 scopus 로고    scopus 로고
    • A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy
    • (1996) Eur J Biochem , vol.235 , pp. 317-323
    • Freiburg, A.1    Gautel, M.2
  • 55
    • 0032494188 scopus 로고    scopus 로고
    • Troponin and tropomyosin: Proteins that switch on and tune in the activity of cardiac myofilaments
    • (1998) Circ Res , vol.83 , pp. 471-480
    • Solaro, R.J.1    Rarick, H.M.2
  • 61
    • 0030958086 scopus 로고    scopus 로고
    • Point mutations in human beta cardiac myosin heavy chain have differential effects on sarcomeric structure and assembly: An ATP binding site change disrupts both thick and thin filaments, whereas hypertrophic cardiomyopathy mutations display normal assembly
    • (1997) J Cell Biol , vol.137 , pp. 131-140
    • Becker, K.D.1    Gottshall, K.R.2    Hickey, R.3    Perriard, J.C.4    Chien, K.R.5
  • 62
    • 0032751723 scopus 로고    scopus 로고
    • Direct, convergent hypersensitivity of calcium-activated force generation produced by hypertrophic cardiomyopathy mutant alpha-tropomyosins in adult cardiac myocytes
    • (1999) Nat Med , vol.5 , pp. 1413-1417
    • Michele, D.E.1    Albayya, F.P.2    Metzger, J.M.3
  • 69
    • 0033605422 scopus 로고    scopus 로고
    • Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy
    • (1999) J Biol Chem , vol.274 , pp. 8806-8812
    • Yanaga, F.1    Morimoto, S.2    Ohtsuki, I.3
  • 73
    • 0030454149 scopus 로고    scopus 로고
    • Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome
    • (1996) J Clin Invest , vol.98 , pp. 2866-2873
    • Sata, M.1    Ikebe, M.2
  • 100
    • 0033979552 scopus 로고    scopus 로고
    • Pathogenesis of diverse clinical and pathological phenotypes in hypertrophic cardiomyopathy
    • (2000) Lancet , vol.355 , pp. 58-60
    • Marian, A.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.