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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: da silva n. 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
Towards plant resistance to viruses using protein-only RNase P.
Gobert A, Quan Y, Arrivé M, Waltz F, Da Silva N, Jomat L, Cohen M, Jupin I, Giegé P. Gobert A, et al. Among authors: da silva n. Nat Commun. 2021 Feb 12;12(1):1007. doi: 10.1038/s41467-021-21338-6. Nat Commun. 2021. PMID: 33579946 Free PMC article.
Mechanisms of myostatin and activin A accumulation in chronic kidney disease.
Bataille S, Dou L, Bartoli M, Sallée M, Aniort J, Ferkak B, Chermiti R, McKay N, Da Silva N, Burtey S, Poitevin S. Bataille S, et al. Among authors: da silva n. Nephrol Dial Transplant. 2022 Jun 23;37(7):1249-1260. doi: 10.1093/ndt/gfac136. Nephrol Dial Transplant. 2022. PMID: 35333341
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: da silva n. Cells. 2016 Jul 11;5(3):31. doi: 10.3390/cells5030031. Cells. 2016. PMID: 27409638 Free PMC article.
22 results