메뉴 건너뛰기




Volumn 321, Issue 1-2, 2009, Pages 189-196

Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy

Author keywords

Beta myosin heavy chain; Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Mutation

Indexed keywords

ARGININE; GENOMIC DNA; GLYCINE; HISTIDINE; METHIONINE; MYOSIN HEAVY CHAIN BETA; THREONINE; VALINE;

EID: 58249125789     PISSN: 03008177     EISSN: 15734919     Source Type: Journal    
DOI: 10.1007/s11010-008-9932-0     Document Type: Article
Times cited : (22)

References (16)
  • 1
    • 33746513207 scopus 로고    scopus 로고
    • Simulations of the myosin II motor reveal a nucleotide-state sensing element that controls the recovery stroke
    • doi: 10.1016/j.jmb.2006.06.022
    • Koppole S, Smith JC, Fischer S (2006) Simulations of the myosin II motor reveal a nucleotide-state sensing element that controls the recovery stroke. J Mol Biol 361:604-616. doi: 10.1016/j.jmb.2006.06.022
    • (2006) J Mol Biol , vol.361 , pp. 604-616
    • Koppole, S.1    Smith, J.C.2    Fischer, S.3
  • 2
    • 4043081356 scopus 로고    scopus 로고
    • Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy
    • doi: 10.1016/j.jacc.2004.04.039
    • Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ (2004) Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 44:602-610. doi: 10.1016/j.jacc.2004.04.039
    • (2004) J Am Coll Cardiol , vol.44 , pp. 602-610
    • Van Driest, S.L.1    Jaeger, M.A.2    Ommen, S.R.3    Will, M.L.4    Gersh, B.J.5    Tajik, A.J.6    Ackerman, M.J.7
  • 3
    • 0035354329 scopus 로고    scopus 로고
    • The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age
    • doi: 10.1016/S0002-9149(01)01532-6
    • Havndrup O, Bundgaard H, Andersen PS, Larsen LA, Vuust J, Kjeldsen K, Christiansen M (2001) The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age. Am J Cardiol 87:1315-1317. doi: 10.1016/S0002-9149(01)01532-6
    • (2001) Am J Cardiol , vol.87 , pp. 1315-1317
    • Havndrup, O.1    Bundgaard, H.2    Andersen, P.S.3    Larsen, L.A.4    Vuust, J.5    Kjeldsen, K.6    Christiansen, M.7
  • 4
    • 0028140230 scopus 로고
    • Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations
    • Fananapazir L, Epstein ND (1994) Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. Circulation 89:22-32
    • (1994) Circulation , vol.89 , pp. 22-32
    • Fananapazir, L.1    Epstein, N.D.2
  • 5
    • 0029562534 scopus 로고
    • A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy
    • Nakajima-Taniguchi C, Azuma J, Nagata S, Kishimoto T, Yamauchi-Takihara K (1995) A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy. Jpn Circ J 59:833-837
    • (1995) Jpn Circ J , vol.59 , pp. 833-837
    • Nakajima-Taniguchi, C.1    Azuma, J.2    Nagata, S.3    Kishimoto, T.4    Yamauchi-Takihara, K.5
  • 6
    • 0032535496 scopus 로고    scopus 로고
    • Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family
    • doi: 10.1016/S0002-9149(98)00695-X
    • Hwang TH, Lee WH, Kimura A, Satoh M, Nakamura T, Kim MK, Choi SK, Park JE (1998) Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family. Am J Cardiol 82:1509-1513. doi: 10.1016/S0002-9149(98)00695-X
    • (1998) Am J Cardiol , vol.82 , pp. 1509-1513
    • Hwang, T.H.1    Lee, W.H.2    Kimura, A.3    Satoh, M.4    Nakamura, T.5    Kim, M.K.6    Choi, S.K.7    Park, J.E.8
  • 8
    • 33646153549 scopus 로고    scopus 로고
    • Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy
    • doi: 10.1111/j.1399-0004.2006.00599.x
    • Tanjore RR, Sikindlapuram AD, Calambur N, Thakkar B, Kerkar PG, Nallari P (2006) Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy. Clin Genet 69:434-436. doi: 10.1111/ j.1399-0004.2006.00599.x
    • (2006) Clin Genet , vol.69 , pp. 434-436
    • Tanjore, R.R.1    Sikindlapuram, A.D.2    Calambur, N.3    Thakkar, B.4    Kerkar, P.G.5    Nallari, P.6
  • 9
    • 34648825230 scopus 로고    scopus 로고
    • A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family
    • Bashyam MD, Savithri GR, Gopikrishna M, Narasimhan C (2007) A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family. Can J Cardiol 23:788-790
    • (2007) Can J Cardiol , vol.23 , pp. 788-790
    • Bashyam, M.D.1    Savithri, G.R.2    Gopikrishna, M.3    Narasimhan, C.4
  • 11
    • 10644283181 scopus 로고    scopus 로고
    • Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy
    • doi: 10.1016/j.jacc.2004.05.088
    • Mogensen J, Murphy RT, Kubo T, Bahl A, Moon JC, Klausen IC, Elliott PM, McKenna WJ (2004) Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol 44:2315-2325. doi: 10.1016/ j.jacc.2004.05.088
    • (2004) J Am Coll Cardiol , vol.44 , pp. 2315-2325
    • Mogensen, J.1    Murphy, R.T.2    Kubo, T.3    Bahl, A.4    Moon, J.C.5    Klausen, I.C.6    Elliott, P.M.7    McKenna, W.J.8
  • 13
    • 0027302431 scopus 로고
    • Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy
    • doi: 10.1172/JCI116530
    • Cuda G, Fananapazir L, Zhu WS, Sellers JR, Epstein ND (1993) Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. J Clin Invest 91:2861-2865. doi: 10.1172/JCI116530
    • (1993) J Clin Invest , vol.91 , pp. 2861-2865
    • Cuda, G.1    Fananapazir, L.2    Zhu, W.S.3    Sellers, J.R.4    Epstein, N.D.5
  • 14
    • 28744445655 scopus 로고    scopus 로고
    • Characteristics of the beta myosin heavy chain gene Ala26Val mutation in a Chinese family with hypertrophic cardiomyopathy
    • doi: 10.1016/j.ejim.2005.02.008
    • Liu SX, Hu SJ, Sun J, Wang J, Wang XT, Jiang Y, Cai J (2005) Characteristics of the beta myosin heavy chain gene Ala26Val mutation in a Chinese family with hypertrophic cardiomyopathy. Eur J Intern Med 16:328-333. doi: 10.1016/j.ejim.2005.02.008
    • (2005) Eur J Intern Med , vol.16 , pp. 328-333
    • Liu, S.X.1    Hu, S.J.2    Sun, J.3    Wang, J.4    Wang, X.T.5    Jiang, Y.6    Cai, J.7
  • 16
    • 0037058868 scopus 로고    scopus 로고
    • Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy
    • doi: 10.1161/01.CIR.0000042675.59901.14
    • Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, Tajik AJ, Gersh BJ (2002) Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. Circulation 106:3085-3090. doi: 10.1161/01.CIR.0000042675.59901.14
    • (2002) Circulation , vol.106 , pp. 3085-3090
    • Van Driest, S.L.1    Ackerman, M.J.2    Ommen, S.R.3    Shakur, R.4    Will, M.L.5    Nishimura, R.A.6    Tajik, A.J.7    Gersh, B.J.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.