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Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13.
Pitrez PR, Estronca L, Monteiro LM, Colell G, Vazão H, Santinha D, Harhouri K, Thornton D, Navarro C, Egesipe AL, Carvalho T, Dos Santos RL, Lévy N, Smith JC, de Magalhães JP, Ori A, Bernardo A, De Sandre-Giovannoli A, Nissan X, Rosell A, Ferreira L. Pitrez PR, et al. Among authors: navarro c. Nat Commun. 2020 Aug 17;11(1):4110. doi: 10.1038/s41467-020-17901-2. Nat Commun. 2020. PMID: 32807790 Free PMC article.
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.
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. Among authors: navarro c. Genet Test Mol Biomarkers. 2009 Oct;13(5):635-9. doi: 10.1089/gtmb.2009.0021. Genet Test Mol Biomarkers. 2009. PMID: 19645629
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G. Ben Yaou R, et al. Among authors: navarro c. Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267004 Free PMC article.
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: navarro cl. 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
1,255 results