Laminopathies: One Gene, Two Proteins, Five Diseases..

作者: Gisèle Bonne , Corinne Vigouroux

DOI:

关键词:

摘要:

参考文章(101)
ROBERT A. HEGELE, HENIAN CAO, STEWART B. HARRIS, BERNARD ZINMAN, ANTHONY J. HANLEY, CAROL M. ANDERSON, Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians. Physiological Genomics. ,vol. 3, pp. 39- 44 ,(2000) , 10.1152/PHYSIOLGENOMICS.2000.3.1.39
Virginia V. Michels, Patricia P. Moll, Fletcher A. Miller, A. Jamil Tajik, Julia S. Chu, David J. Driscoll, John C. Burnett, Richard J. Rodeheffer, James H. Chesebro, Henry D. Tazelaar, The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy New England Journal of Medicine. ,vol. 326, pp. 77- 82 ,(1992) , 10.1056/NEJM199201093260201
Andrew Carr, Katherine Samaras, Samantha Burton, Matthew Law, Judith Freund, Donald J. Chisholm, David A. Cooper, A syndrome of peripheral lipodystrophy, hyperlipidaemia and insulin resistance in patients receiving HIV protease inhibitors. AIDS. ,vol. 12, ,(1998) , 10.1097/00002030-199807000-00003
Yair Levy, Jacob George, Eli Yona, Yehuda Shoenfeld, Partial lipodystrophy, mesangiocapillary glomerulonephritis, and complement dysregulation. An autoimmune phenomenon. Immunologic Research. ,vol. 18, pp. 55- 60 ,(1998) , 10.1007/BF02786513
Hausmanowa-Petrusewicz I, The Emery-Dreifuss disease. Neuropatologia polska. ,vol. 26, pp. 265- ,(1988)
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
I. Barroso, M. Gurnell, V. E. F. Crowley, M. Agostini, J. W. Schwabe, M. A. Soos, G. LI Maslen, T. D. M. Williams, H. Lewis, A. J. Schafer, V. K. K. Chatterjee, S. O'Rahilly, Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension Nature. ,vol. 402, pp. 880- 883 ,(1999) , 10.1038/47254
Iichiro Shimomura, Robert E. Hammer, Shinji Ikemoto, Michael S. Brown, Joseph L. Goldstein, Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy Nature. ,vol. 401, pp. 73- 76 ,(1999) , 10.1038/43448
T M Ledderhof, A J van der Kooi, M de Visser, E M McNally, P A Bolhuis, M van Meegen, Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. American Journal of Human Genetics. ,vol. 60, pp. 891- 895 ,(1997)