Browsing Ciències de la Salut by Subject "Genetic screening"

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    • Defective in mitotic arrest 1 (Dma1) ubiquitin ligase controls G1 cyclin degradation 

      Hernández-Ortega, Sara; Bru Rullo, Samuel; Ricco Pacheco, Natalia; Ramírez, Sara; Casals i Farré, Núria; Jiménez, Javier; Isasa, Marta; Crosas, Bernat; Clotet Erra, Josep (Journal of Biological Chemistry, 2013-02)
      Progression through the G1 phase of the cell cycle is controlled by diverse cyclin-dependent kinases (CDKs) that might be associated to numerous cyclin isoforms. Given such complexity, regulation of ...

    • Genetic screening for TLR7 variants in young and previously healthy men with severe COVID-19 

      Solanich, Xavier; Vargas-Parra, Gardenia; Van der Made, Caspar I.; Simons, Annet; Schuurs-Hoeijmakers, Janneke; Antolí, Arnau; Del Valle, Jesús; Rocamora-Blanch, Gemma; Setién, Fernando; Esteller, Manel; Van Reijmersdal, Simon V.; Riera-Mestre, Antoni; Sabater-Riera, Joan; Capellà, Gabriel; Van de Veerdonk, Frank L.; Van der Hoven, Ben; Corbella Virós, Xavier; Hoischen, Alexander; Lázaro, Conxi (Frontiers in Immunology, 2021)
      Introduction: Loss-of-function TLR7 variants have been recently reported in a small number of males to underlie strong predisposition to severe COVID-19. We aimed to determine the presence of these rare ...