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Page 1
Lamin a truncation in Hutchinson-Gilford progeria.
De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Lévy N. De Sandre-Giovannoli A, et al. Among authors: navarro c. Science. 2003 Jun 27;300(5628):2055. doi: 10.1126/science.1084125. Epub 2003 Apr 17. Science. 2003. PMID: 12702809 No abstract available.
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N. Navarro CL, et al. Hum Mol Genet. 2004 Oct 15;13(20):2493-503. doi: 10.1093/hmg/ddh265. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317753
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, Badens C, Lévy N. Navarro CL, et al. Hum Mol Genet. 2005 Jun 1;14(11):1503-13. doi: 10.1093/hmg/ddi159. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843403
Molecular bases of progeroid syndromes.
Navarro CL, Cau P, Lévy N. Navarro CL, et al. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R151-61. doi: 10.1093/hmg/ddl214. Hum Mol Genet. 2006. PMID: 16987878 Review.
LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.
Gaudy-Marqueste C, Boyer A, Navarro C, Rouzier C, Harley JR, Weiller PJ, Grob JJ, Levy N, De Sandre-Giovannoli A. Gaudy-Marqueste C, et al. Genet Test Mol Biomarkers. 2009 Oct;13(5):635-9. doi: 10.1089/gtmb.2009.0021. Genet Test Mol Biomarkers. 2009. PMID: 19645629
Prelamin A processing and functional effects in restrictive dermopathy.
Columbaro M, Mattioli E, Schena E, Capanni C, Cenni V, Levy N, Navarro CL, Del Coco R, Squarzoni S, Camozzi D, Hutchison CJ, Wehnert M, Lattanzi G. Columbaro M, et al. Among authors: navarro cl. Cell Cycle. 2010 Dec 1;9(23):4766-8. doi: 10.4161/cc.9.23.14210. Epub 2010 Dec 1. Cell Cycle. 2010. PMID: 21127399 Free PMC article. No abstract available.
35 results