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Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.
Puente XS, Quesada V, Osorio FG, Cabanillas R, Cadiñanos J, Fraile JM, Ordóñez GR, Puente DA, Gutiérrez-Fernández A, Fanjul-Fernández M, Lévy N, Freije JM, López-Otín C. Puente XS, et al. Am J Hum Genet. 2011 May 13;88(5):650-6. doi: 10.1016/j.ajhg.2011.04.010. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549337 Free PMC article.
Matrix metalloproteinase Mmp-1a is dispensable for normal growth and fertility in mice and promotes lung cancer progression by modulating inflammatory responses.
Fanjul-Fernández M, Folgueras AR, Fueyo A, Balbín M, Suárez MF, Fernández-García MS, Shapiro SD, Freije JMP, López-Otín C. Fanjul-Fernández M, et al. J Biol Chem. 2013 May 17;288(20):14647-14656. doi: 10.1074/jbc.M112.439893. Epub 2013 Apr 2. J Biol Chem. 2013. PMID: 23548910 Free PMC article.
Collagenase-2 deficiency or inhibition impairs experimental autoimmune encephalomyelitis in mice.
Folgueras AR, Fueyo A, García-Suárez O, Cox J, Astudillo A, Tortorella P, Campestre C, Gutiérrez-Fernández A, Fanjul-Fernández M, Pennington CJ, Edwards DR, Overall CM, López-Otín C. Folgueras AR, et al. Among authors: fanjul fernandez m. J Biol Chem. 2018 Jul 27;293(30):11968-11969. doi: 10.1074/jbc.AAC118.004703. J Biol Chem. 2018. PMID: 30054293 Free PMC article. No abstract available.
Matrix metalloproteinase Mmp-1a is dispensable for normal growth and fertility in mice and promotes lung cancer progression by modulating inflammatory responses.
Fanjul-Fernández M, Folgueras AR, Fueyo A, Balbín M, Suárez MF, Fernández-García MS, Shapiro SD, Freije JMP, López-Otín C. Fanjul-Fernández M, et al. J Biol Chem. 2018 Jul 27;293(30):11970. doi: 10.1074/jbc.AAC118.004704. J Biol Chem. 2018. PMID: 30054294 Free PMC article. No abstract available.
Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics; White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH. Lenk GM, et al. Among authors: fanjul fernandez m. Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28. Hum Mutat. 2019. PMID: 30740813 Free PMC article.
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