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Page 1
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi A, Navarro C, Ozalp O, Lourenco CM, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha LA, Chaouch M, Lessel D, De Sandre-Giovannoli A. Saadi A, et al. Among authors: navarro c. Am J Med Genet A. 2023 Sep;191(9):2274-2289. doi: 10.1002/ajmg.a.63335. Epub 2023 Jun 30. Am J Med Genet A. 2023. PMID: 37387251
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.
Substrate Topography Modulates Cell Aging on a Progeria Cell Model.
Pitrez PR, Estronca L, Vazão H, Egesipe AL, Le Corf A, Navarro C, Lévy N, De Sandre-Giovannoli A, Nissan X, Ferreira L. Pitrez PR, et al. Among authors: navarro c. ACS Biomater Sci Eng. 2018 May 14;4(5):1498-1504. doi: 10.1021/acsbiomaterials.8b00224. Epub 2018 Apr 26. ACS Biomater Sci Eng. 2018. PMID: 33445307
Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.
Harhouri K, Navarro C, Baquerre C, Da Silva N, Bartoli C, Casey F, Mawuse GK, Doubaj Y, Lévy N, De Sandre-Giovannoli A. Harhouri K, et al. Among authors: navarro c. Cells. 2016 Jul 11;5(3):31. doi: 10.3390/cells5030031. Cells. 2016. PMID: 27409638 Free PMC article.
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: navarro c. 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.
A new lamin a mutation associated with acrogeria syndrome.
Hadj-Rabia S, Mashiah J, Roll P, Boyer A, Bourgeois P, Van Kien PK, Lévy N, De Sandre-Giovannoli A, Bodemer C, Navarro C. Hadj-Rabia S, et al. Among authors: navarro c. J Invest Dermatol. 2014 Aug;134(8):2274-2277. doi: 10.1038/jid.2014.158. Epub 2014 Apr 1. J Invest Dermatol. 2014. PMID: 24687084 Free article. No abstract available.
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