Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure
作者： T. M. Olson
DOI: 10.1126/SCIENCE.280.5364.750
关键词:
摘要: Two mutations in the human cardiac actin gene are disclosed which have been associated with idiopathic dilated cardiomyopathy (IDC) two families. These cosegregate IDC Both affect universally conserved amino acids domains of that attach to Z bands and intercalated discs. Analysis can be used determine presence a patient resulting from this gene. Such analysis is useful diagnosis prognosis disease patients
sciencemag.org
harvard.edu
elsevier.com
columbia.edu 参考文章(26)
E S Hennessey, D R Drummond, J C Sparrow, Molecular genetics of actin function Biochemical Journal. ,vol. 291, pp. 657- 671 ,(1993) , 10.1042/BJ2910657
M Buckingham, G Bugaisky, J Vandekerckhove, Simultaneous expression of skeletal muscle and heart actin proteins in various striated muscle tissues and cells. A quantitative determination of the two actin isoforms. Journal of Biological Chemistry. ,vol. 261, pp. 1838- 1843 ,(1986) , 10.1016/S0021-9258(17)36017-9
Jonathan Seidman, Christine Seidman, Hugh Watkins, Calum Mcrae, Ludwig Thierfelder, Methods for detecting mutations associated with hypertrophic cardiomyopathy ,(1995)
Adrian Minty, Larry Kedes, None, Upstream regions of the human cardiac actin gene that modulate its transcription in muscle cells: presence of an evolutionarily conserved repeated motif Molecular and Cellular Biology. ,vol. 6, pp. 2125- 2136 ,(1986) , 10.1128/MCB.6.6.2125
P Gunning, P Ponte, H Blau, L Kedes, alpha-skeletal and alpha-cardiac actin genes are coexpressed in adult human skeletal muscle and heart. Molecular and Cellular Biology. ,vol. 3, pp. 1985- 1995 ,(1983) , 10.1128/MCB.3.11.1985
B.A. Levine, A.J.G. Moir, V.B. Patchell, S.V. Perry, Binding sites involved in the interaction of actin with the N-terminal region of dystrophin FEBS Letters. ,vol. 298, pp. 44- 48 ,(1992) , 10.1016/0014-5793(92)80019-D
William T Abraham, Michael R Bristow, None, Specialized Centers for Heart Failure Management Circulation. ,vol. 96, pp. 2755- 2757 ,(1997) , 10.1161/01.CIR.96.9.2755
K R Bowles, R Gajarski, P Porter, V Goytia, L Bachinski, R Roberts, R Pignatelli, J A Towbin, Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. Journal of Clinical Investigation. ,vol. 98, pp. 1355- 1360 ,(1996) , 10.1172/JCI118922
Mario Gimona, Joel Vandekerckhove, Marc Goethals, Monika Herzog, Zeev Lando, J. Victor Small, β‐actin specific monoclonal antibody Cytoskeleton. ,vol. 27, pp. 108- 116 ,(1994) , 10.1002/CM.970270203
L. Mestroni, M. Krajinovic, G. M. Severini, B. Pinamonti, A. Di Lenarda, M. Giacca, A. Falaschi, F. Camerini, Familial dilated cardiomyopathy Heart. ,vol. 72, ,(1994) , 10.1136/HRT.72.6_SUPPL.S35