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Volumn 25, Issue 3, 2006, Pages 295-300

Familial dilated cardiomyopathy with troponin T K210del mutation

Author keywords

Familiar; Gen tica; Miocardiopatia dilatada; Troponina T

Indexed keywords

TROPONIN T;

EID: 33744463414     PISSN: 08702551     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (23)
  • 1
    • 0034619996 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
    • Kamisago M, Sharma SD, Steven RD, et al. Mutations in Sarcomere Protein Genes as a cause of Dilated Cardiomyopathy. N. Engl. J Med 2000;343:1688-96.
    • (2000) N Engl J Med , vol.343 , pp. 1688-1696
    • Kamisago, M.1    Sharma, S.D.2    Steven, R.D.3
  • 2
    • 0036174030 scopus 로고    scopus 로고
    • Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy
    • Hanson EL, Jakobs PM, Keegan H, et al. Cardiac Troponin T Lysine 210 Deletion in a Family with Dilated Cardiomyopathy. J Card Fail 2002;8 (1):28-32.
    • (2002) J Card Fail , vol.8 , Issue.1 , pp. 28-32
    • Hanson, E.L.1    Jakobs, P.M.2    Keegan, H.3
  • 3
    • 8144224216 scopus 로고    scopus 로고
    • Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy
    • Mogensen J, Murphy RT, Shaw T, et al. Severe Disease Expression of Cardiac Troponin C and T mutations in Patients With Idiopathic Dilated Cardiomyopathy. JACC 2004;44 (10):2033-40.
    • (2004) JACC , vol.44 , Issue.10 , pp. 2033-2040
    • Mogensen, J.1    Murphy, R.T.2    Shaw, T.3
  • 4
    • 0036478897 scopus 로고    scopus 로고
    • Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
    • Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nature Genet 2002;30:201-4.
    • (2002) Nature Genet , vol.30 , pp. 201-204
    • Gerull, B.1    Gramlich, M.2    Atherton, J.3
  • 5
    • 0033520037 scopus 로고    scopus 로고
    • Desmin mutation responsible for idiopathic dilated cardiomyopathy
    • Li D, Tapscoft T, Gonzalez O, et al. Desmin Mutation Responsible for Idiopathic Dilated Cardiomyopathy. Circulation 1999;100:461-4.
    • (1999) Circulation , vol.100 , pp. 461-464
    • Li, D.1    Tapscoft, T.2    Gonzalez, O.3
  • 6
    • 0033818186 scopus 로고    scopus 로고
    • Mutations in the human -sarcoglycan gene in familial and sporadic dilated cardiomyopathy
    • Tsubata S, Bowles KR, Vatta M, et al. Mutations in the human -sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 2000;106 (5):655-62.
    • (2000) J Clin Invest , vol.106 , Issue.5 , pp. 655-662
    • Tsubata, S.1    Bowles, K.R.2    Vatta, M.3
  • 7
    • 0037470512 scopus 로고    scopus 로고
    • Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
    • Schmitt JP, Kamisago M, Asahi M, et al. Dilated Cardiomyopathy and Heart Failure Caused by a Mutation in Phospholamban. Science 2003;299:1410-13.
    • (2003) Science , vol.299 , pp. 1410-1413
    • Schmitt, J.P.1    Kamisago, M.2    Asahi, M.3
  • 9
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998;280:750-2.
    • (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
  • 10
    • 8844274874 scopus 로고    scopus 로고
    • Two novel mutations in the -myosin heavy chain gene associated with dilated cardiomyopathy
    • Karkkainen S, Helio T, Jaaskelainen, et al. Two novel mutations in the -myosin heavy chain gene associated with dilated cardiomyopathy. Eur J Heart Fail 2004;6:861-8.
    • (2004) Eur J Heart Fail , vol.6 , pp. 861-868
    • Karkkainen, S.1    Helio, T.2    Jaaskelainen3
  • 11
    • 17444407002 scopus 로고    scopus 로고
    • Mutation screening in dilated cardiomyopathy: Prominent role of the beta myosin heavy chain gene
    • Villard E, Duboscq-Bidot L, Charron P, et al. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur J Heart Fail 2005;2:794-803.
    • (2005) Eur J Heart Fail , vol.2 , pp. 794-803
    • Villard, E.1    Duboscq-Bidot, L.2    Charron, P.3
  • 12
    • 0034971165 scopus 로고    scopus 로고
    • Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy
    • Olson TM, Kishimoto NY, Whitby FG, Michel VV. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Card 2001 Apr; 33 (4):723-32.
    • (2001) J Mol Cell Card , vol.33 , Issue.4 , pp. 723-732
    • Olson, T.M.1    Kishimoto, N.Y.2    Whitby, F.G.3    Michel, V.V.4
  • 13
    • 0033518282 scopus 로고    scopus 로고
    • Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
    • Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999;341:1715-24.
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 14
    • 0037154179 scopus 로고    scopus 로고
    • Ca2+ desensitizing effect of a deletion mutation K210 in cardiac troponin T that causes familial dilated cardiomyopathy
    • Morimoto S, Lu QW, Harada K et al. Ca2+ desensitizing effect of a deletion mutation K210 in cardiac troponin T that causes familial dilated cardiomyopathy. PNAS 2002;99 (2):913-8.
    • (2002) PNAS , vol.99 , Issue.2 , pp. 913-918
    • Morimoto, S.1    Lu, Q.W.2    Harada, K.3
  • 15
    • 0142180165 scopus 로고    scopus 로고
    • Different functional properties of troponin T mutants that cause dilated cardiomyopathy
    • Venkatraman G, Harada K, Gomes AV, Kerrick WG, Potter JD. Different Functional Properties of Troponin T Mutants that Cause Dilated Cardiomyopathy. J Biol Chemistry 2003;278 (43):41670-6.
    • (2003) J Biol Chemistry , vol.278 , Issue.43 , pp. 41670-41676
    • Venkatraman, G.1    Harada, K.2    Gomes, A.V.3    Kerrick, W.G.4    Potter, J.D.5
  • 16
    • 0037174918 scopus 로고    scopus 로고
    • Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy
    • Robinson P, Mirza M, Knott A, et al. Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy. J Biol Chemistry 2002;2002:40710-16.
    • (2002) J Biol Chemistry , vol.2002 , pp. 40710-40716
    • Robinson, P.1    Mirza, M.2    Knott, A.3
  • 17
    • 0024723470 scopus 로고
    • Recommendations for quantitation of the left ventricle by two-dimensional echocardiography
    • Schiller NB, Shah PM, Crawford M, et al. Recommendations for quantitation of the left ventricle by two-dimensional echocardiography. J Am Soc Echocardiog 1989;2 (5):358-67.
    • (1989) J Am Soc Echocardiog , vol.2 , Issue.5 , pp. 358-367
    • Schiller, N.B.1    Shah, P.M.2    Crawford, M.3
  • 18
    • 0019165493 scopus 로고
    • Echocardiographic measurements in normal subjects from infancy to old age
    • Henry WL, Gardin JM, Ware JH. Echocardiographic measurements in normal subjects from infancy to old age. Circulation 1980;62:1054-61.
    • (1980) Circulation , vol.62 , pp. 1054-1061
    • Henry, W.L.1    Gardin, J.M.2    Ware, J.H.3
  • 19
    • 0032934453 scopus 로고    scopus 로고
    • Guidelines for the study of familial dilated cardiomyopathies
    • Mestroni L, Maisch B, McKenna WJ, et al. Guidelines for the study of familial dilated cardiomyopathies. Eur Heart J 1999;20:93-102.
    • (1999) Eur Heart J , vol.20 , pp. 93-102
    • Mestroni, L.1    Maisch, B.2    McKenna, W.J.3
  • 20
    • 0024791277 scopus 로고
    • An efficient salt-chloroform extraction of DNA from blood and tissue
    • Mullenbach R, Lagoda PJL, Welter C. An efficient salt-chloroform extraction of DNA from blood and tissue. Trends Genet 1989;5:391.
    • (1989) Trends Genet , vol.5 , pp. 391
    • Mullenbach, R.1    Lagoda, P.J.L.2    Welter, C.3
  • 21
    • 12144290256 scopus 로고    scopus 로고
    • ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating
    • Bienengraeber M, Olson TM, Selivanov VA, et al. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet 2004;36:382-7.
    • (2004) Nat Genet , vol.36 , pp. 382-387
    • Bienengraeber, M.1    Olson, T.M.2    Selivanov, V.A.3
  • 22
    • 4744338855 scopus 로고    scopus 로고
    • Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity
    • Stefanelli CB, Rosenthal A, Borisov AB, Ensing GJ, Russell MW. Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity. Mol Genet Metab 2004;83 (1-2):188-96.
    • (2004) Mol Genet Metab , vol.83 , Issue.1-2 , pp. 188-196
    • Stefanelli, C.B.1    Rosenthal, A.2    Borisov, A.B.3    Ensing, G.J.4    Russell, M.W.5
  • 23
    • 0035975958 scopus 로고    scopus 로고
    • Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy
    • Li D, Czernuszewicz GZ, Gonzalez O, et al. Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. Circulation 2001;104 (18):2188-93.
    • (2001) Circulation , vol.104 , Issue.18 , pp. 2188-2193
    • Li, D.1    Czernuszewicz, G.Z.2    Gonzalez, O.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.