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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. Among authors: levy n. 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
A conserved splicing mechanism of the LMNA gene controls premature aging.
Lopez-Mejia IC, Vautrot V, De Toledo M, Behm-Ansmant I, Bourgeois CF, Navarro CL, Osorio FG, Freije JM, Stévenin J, De Sandre-Giovannoli A, Lopez-Otin C, Lévy N, Branlant C, Tazi J. Lopez-Mejia IC, et al. Among authors: levy n. Hum Mol Genet. 2011 Dec 1;20(23):4540-55. doi: 10.1093/hmg/ddr385. Epub 2011 Aug 29. Hum Mol Genet. 2011. PMID: 21875900
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Barthélémy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, Lévy N, Bartoli M, De Sandre-Giovannoli A. Barthélémy F, et al. Among authors: levy n. Eur J Hum Genet. 2015 Aug;23(8):1051-61. doi: 10.1038/ejhg.2014.239. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649378 Free PMC article.
1,141 results