메뉴 건너뛰기




Volumn 18, Issue 10, 2010, Pages 478-485

Recurrent and founder mutations in the netherlands: Mutation p.k217del in troponin t2, causing dilated cardiomyopathy

Author keywords

Cardiomyopathy; Dilated; Genetics; Troponin t

Indexed keywords

LAMIN A; LAMIN C; MYOSIN HEAVY CHAIN BETA; TROPONIN T;

EID: 78149363537     PISSN: 15685888     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03091819     Document Type: Article
Times cited : (10)

References (32)
  • 1
    • 38349086961 scopus 로고    scopus 로고
    • Classification of the cardiomyopathies: A position statement from the European Society of Cardiology Working Group on myocardial and pericardial diseases
    • Elliot P, Andersson B, Arbustini E, Bininska Z, Cecchi F, Charron P, et al. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on myocardial and pericardial diseases. Eur Heart J. 2008;29:270-6.
    • (2008) Eur Heart J , vol.29 , pp. 270-276
    • Elliot, P.1    Andersson, B.2    Arbustini, E.3    Bininska, Z.4    Cecchi, F.5    Charron, P.6
  • 2
    • 70349237286 scopus 로고    scopus 로고
    • Registry of the international society for heart and lung transplantation: Twenty-sixth official adult heart transplant report-2009
    • Taylor DO, Stehlik J, Edwards LB, Aurora P, Christie JD, Dobbels F, et al. Registry of the international society for heart and lung transplantation: Twenty-sixth official adult heart transplant report-2009. J Heart Lung Transplant. 2009;28:1007-22.
    • (2009) J Heart Lung Transplant , vol.28 , pp. 1007-1022
    • Taylor, D.O.1    Stehlik, J.2    Edwards, L.B.3    Aurora, P.4    Christie, J.D.5    Dobbels, F.6
  • 6
    • 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, Benaiche A, Conraads V, Sylvius N, et al. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005;26:751-4.
    • (2005) Eur Heart J , vol.26 , pp. 751-754
    • Villard, E.1    Duboscq-Bidot, L.2    Charron, P.3    Benaiche, A.4    Conraads, V.5    Sylvius, N.6
  • 9
    • 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, Bahl A, Redwood C, Watkins H, et al. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2004;44:2033-40.
    • (2004) J Am Coll Cardiol , vol.44 , pp. 2033-2040
    • Mogensen, J.1    Murphy, R.T.2    Shaw, T.3    Bahl, A.4    Redwood, C.5    Watkins, H.6
  • 11
    • 0035936792 scopus 로고    scopus 로고
    • The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms
    • Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001;104:557-67.
    • (2001) Cell , vol.104 , pp. 557-567
    • Seidman, J.G.1    Seidman, C.2
  • 12
    • 77449104814 scopus 로고    scopus 로고
    • Clinical and Functional Characterization of TNNT2 Mutations Identified In Patients With Dilated Cardiomyopathy
    • Hershberger RE, Pinto J, Parks SB, Kushner JD, Li D, Ludwigsen S, et al. Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.Circ Cardiovasc Genet. 2009; 2:306-13.
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 306-313
    • Hershberger, R.E.1    Pinto, J.2    Parks, S.B.3    Kushner, J.D.4    Li, D.5    Ludwigsen, S.6
  • 15
    • 45649083874 scopus 로고    scopus 로고
    • Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
    • Parks SB, Kushner JD, Naumann D, Burgess D, Ludwigsen S, Peterson A, et al. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J. 2008;156:161-9.
    • (2008) Am Heart J , vol.156 , pp. 161-169
    • Parks, S.B.1    Kushner, J.D.2    Naumann, D.3    Burgess, D.4    Ludwigsen, S.5    Peterson, A.6
  • 17
    • 36148933389 scopus 로고    scopus 로고
    • High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics
    • van Tintelen JP, Hofstra RMW, Katerberg H, Rossenbacker T, Wiesfeld ACP, du Marchie Sarvaas GJ, et al. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J. 2007;154:1130-9.
    • (2007) Am Heart J , vol.154 , pp. 1130-1139
    • van Tintelen, J.P.1    Hofstra, R.M.W.2    Katerberg, H.3    Rossenbacker, T.4    Wiesfeld, A.C.P.5    du Marchie Sarvaas, G.J.6
  • 18
    • 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 Chem. 2003;278:41670-6.
    • (2003) J Biol Chem , vol.278 , pp. 41670-41676
    • Venkatraman, G.1    Harada, K.2    Gomes, A.V.3    Kerrick, W.G.4    Potter, J.D.5
  • 19
    • 0037154179 scopus 로고    scopus 로고
    • Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy
    • Morimoto S, Lu QW, Harada K, Takahashi-Yanaga F, Minakami R, Ohta M, et al. Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy. Proc Natl Acad Sci USA. 2002;99:913-8.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 913-918
    • Morimoto, S.1    Lu, Q.W.2    Harada, K.3    Takahashi-Yanaga, F.4    Minakami, R.5    Ohta, M.6
  • 20
    • 12544260027 scopus 로고    scopus 로고
    • Inherited cardiomyopathies as a troponin disease
    • Harada K, Morimoto S. Inherited cardiomyopathies as a troponin disease. Jpn J Physiol. 2004;54:307-18.
    • (2004) Jpn J Physiol , vol.54 , pp. 307-318
    • Harada, K.1    Morimoto, S.2
  • 21
    • 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 Tmutants that cause hypertrophic cardiomyopathy
    • Robinson P, Mirza M, Knott A, Abdulrazzak H, Willott R, Marston S, 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 Tmutants that cause hypertrophic cardiomyopathy. J Biol Chem. 2002;277:40710-6.
    • (2002) J Biol Chem , vol.277 , pp. 40710-40716
    • Robinson, P.1    Mirza, M.2    Knott, A.3    Abdulrazzak, H.4    Willott, R.5    Marston, S.6
  • 24
    • 20044388707 scopus 로고    scopus 로고
    • Gene mutations in adult Japanese patients with dilated cardiomyopathy
    • Shimizu M, Ino H, Yasuda T, Fujino N, Uchiyama K, Mabuchi T, et al. Gene mutations in adult Japanese patients with dilated cardiomyopathy. Circ J. 2005;69:150-3.
    • (2005) Circ J , vol.69 , pp. 150-153
    • Shimizu, M.1    Ino, H.2    Yasuda, T.3    Fujino, N.4    Uchiyama, K.5    Mabuchi, T.6
  • 25
    • 33746770424 scopus 로고    scopus 로고
    • Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: A pilot study using DGGE
    • Zeller R, Ivandic BT, Ehlermann P, Mücke O, Zugck C, Remppis A, et al. Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE. J Mol Med. 2006;84:682-91.
    • (2006) J Mol Med , vol.84 , pp. 682-691
    • Zeller, R.1    Ivandic, B.T.2    Ehlermann, P.3    Mücke, O.4    Zugck, C.5    Remppis, A.6
  • 27
  • 28
    • 53949106057 scopus 로고    scopus 로고
    • Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology
    • Menon SC, Michels VV, Pellikka PA, Ballew JD, Karst ML, Herron KJ, et al. Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. Clin Genet. 2008;74:445-54.
    • (2008) Clin Genet , vol.74 , pp. 445-454
    • Menon, S.C.1    Michels, V.V.2    Pellikka, P.A.3    Ballew, J.D.4    Karst, M.L.5    Herron, K.J.6
  • 29
    • 54449102251 scopus 로고    scopus 로고
    • Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes
    • Kaski JP, Syrris P, Burch M, Tomé-Esteban M-T, Fenton M, Christiansen M, et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart. 2008; 94:1478-84.
    • (2008) Heart , vol.94 , pp. 1478-1484
    • Kaski, J.P.1    Syrris, P.2    Burch, M.3    Tomé-Esteban, M.-T.4    Fenton, M.5    Christiansen, M.6
  • 32
    • 0033165683 scopus 로고    scopus 로고
    • Clinical features of isolated nancompaction of the ventricular myocardium: Long term clinical course, hemodynamic properties, and genetic background
    • Ichida F, Hamamichi Y, Miyawaki T, Ono Y, Kamiya T, Akagi T, et al. Clinical features of isolated nancompaction of the ventricular myocardium: Long term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol. 1999;34:233-40.
    • (1999) J Am Coll Cardiol , vol.34 , pp. 233-240
    • Ichida, F.1    Hamamichi, Y.2    Miyawaki, T.3    Ono, Y.4    Kamiya, T.5    Akagi, T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.