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Redox stress in Marfan syndrome: Dissecting the role of the NADPH oxidase NOX4 in aortic aneurysm.
Jiménez-Altayó F, Meirelles T, Crosas-Molist E, Sorolla MA, Del Blanco DG, López-Luque J, Mas-Stachurska A, Siegert AM, Bonorino F, Barberà L, García C, Condom E, Sitges M, Rodríguez-Pascual F, Laurindo F, Schröder K, Ros J, Fabregat I, Egea G. Jiménez-Altayó F, et al. Among authors: del blanco dg. Free Radic Biol Med. 2018 Apr;118:44-58. doi: 10.1016/j.freeradbiomed.2018.02.023. Epub 2018 Feb 20. Free Radic Biol Med. 2018. PMID: 29471108
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ. Sun Y, et al. Among authors: del blanco dg. Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143598 Free PMC article.