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Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing
ArticleAbstract: Keratoconus (KTCN) is a protrusion and thinning of the cornea, resulting in impairment of visual funPalabras claves:Autores:Andrea Molinari, Gajecka M., Gambin T., Jhangiani S.N., Karolak J.A., Lupski J.R., Pitarque J.A., Stankiewicz P.Fuentes:scopusPro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING
ArticleAbstract: The cellular sensor stimulator of interferon genes (STING) initiates type I interferon (IFN) and cytPalabras claves:AMPK inhibitor, Autoimmune Disease, gain-of-function mutation, inflammatory disease, Sting, STING inhibitor, type I interferonopathy, ULK1 phosphorylationAutores:Alejandra Mendoza, Barber G.N., Chinn I.K., Hong D.N., Konno H., Luis Alberto Pedroza, Lupski J.R., Orange J.S.Fuentes:scopus