Emery-Dreifuss muscular dystrophy
作者： Antoine Muchir , Howard J. Worman
DOI: 10.1007/S11910-007-0025-3
关键词:
摘要: Emery-Dreifuss muscular dystrophy (EDMD) is inherited in an X-linked or autosomal manner. EDMD caused by mutations EMD, which encodes integral protein of the nuclear envelope inner membrane called emerin. Autosomally LMNA, A-type lamins, intermediate filament proteins associated with membrane. Although causative have been described and mouse models created, pathogenic processes genes encoding cause striated muscle abnormalities remain obscure. Working hypotheses include effects on structural integrity, increased cellular susceptibility to mechanical stress damage, alterations gene expression response changes, cell proliferation differentiation.
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sci-hub.se 参考文章(50)
S Manilal, The Emery-Dreifuss Muscular Dystrophy Protein, Emerin, is a Nuclear Membrane Protein Human Molecular Genetics. ,vol. 5, pp. 801- 808 ,(1996) , 10.1093/HMG/5.6.801
David D. Waters, Donald O. Nutter, Linton C. Hopkins, Edward R. Dorney, Cardiac Features of an Unusual X-Linked Humeroperoneal Neuromuscular Disease New England Journal of Medicine. ,vol. 293, pp. 1017- 1022 ,(1975) , 10.1056/NEJM197511132932004
Wehnert M, Yates, The Emery-Dreifuss Muscular Dystrophy Mutation Database. Neuromuscular Disorders. ,vol. 9, pp. 199- ,(1999)
Gisèle Bonne, Marina Raffaele Di Barletta, Shaida Varnous, Henri-Marc Bécane, El-Hadi Hammouda, Luciano Merlini, Francesco Muntoni, Cheryl R. Greenberg, Françoise Gary, Jon-Andoni Urtizberea, Denis Duboc, Michel Fardeau, Daniela Toniolo, Ketty Schwartz, Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy Nature Genetics. ,vol. 21, pp. 285- 288 ,(1999) , 10.1038/6799
F. Lin, H.J. Worman, Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. Journal of Biological Chemistry. ,vol. 268, pp. 16321- 16326 ,(1993) , 10.1016/S0021-9258(19)85424-8
Martin G. Bialer, Nancy L. Mcdaniel, Thaddeus E. Kelly, Progression of cardiac disease in Emery-Dreifuss muscular dystrophy. Clinical Cardiology. ,vol. 14, pp. 411- 416 ,(1991) , 10.1002/CLC.4960140509
Kazuhiro Furukawa, Hidehito Inagaki, Yasuo Hotta, Identification and cloning of an mRNA coding for a germ cell-specific A-type lamin in mice Experimental Cell Research. ,vol. 212, pp. 426- 430 ,(1994) , 10.1006/EXCR.1994.1164
Miriam Segura-Totten, Amy K. Kowalski, Robert Craigie, Katherine L. Wilson, Barrier-to-autointegration factor: major roles in chromatin decondensation and nuclear assembly Journal of Cell Biology. ,vol. 158, pp. 475- 485 ,(2002) , 10.1083/JCB.200202019
D. Z. Fisher, N. Chaudhary, G. Blobel, cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins Proceedings of the National Academy of Sciences of the United States of America. ,vol. 83, pp. 6450- 6454 ,(1986) , 10.1073/PNAS.83.17.6450
John R.W Yates, Jane Bagshaw, Veronica M.A Aksmanovic, Ellen Coomber, Robert McMahon, Joanne L Whittaker, Patrick J Morrison, John Kendrick-Jones, Juliet A Ellis, Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. Neuromuscular Disorders. ,vol. 9, pp. 159- 165 ,(1999) , 10.1016/S0960-8966(98)00121-7