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Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis.
Viñas-Giménez L, Rincón R, Colobran R, de la Cruz X, Celis VP, Dapena JL, Alsina L, Sayós J, Martínez-Gallo M. Viñas-Giménez L, et al. Among authors: sayos j. Front Immunol. 2021 Sep 23;12:723836. doi: 10.3389/fimmu.2021.723836. eCollection 2021. Front Immunol. 2021. PMID: 34630398 Free PMC article.
The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Arcas-García A, Garcia-Prat M, Magallón-Lorenz M, Martín-Nalda A, Drechsel O, Ossowski S, Alonso L, Rivière JG, Soler-Palacín P, Colobran R, Sayós J, Martínez-Gallo M, Franco-Jarava C. Arcas-García A, et al. Among authors: sayos j. Clin Exp Immunol. 2020 Apr;200(1):61-72. doi: 10.1111/cei.13405. Epub 2020 Jan 19. Clin Exp Immunol. 2020. PMID: 31799703 Free PMC article.
Effect of Specific Mutations in Cd300 Complexes Formation; Potential Implication of Cd300f in Multiple Sclerosis.
Martínez-Barriocanal Á, Arcas-García A, Magallon-Lorenz M, Ejarque-Ortíz A, Negro-Demontel ML, Comas-Casellas E, Schwartz S Jr, Malhotra S, Montalban X, Peluffo H, Martín M, Comabella M, Sayós J. Martínez-Barriocanal Á, et al. Among authors: sayos j. Sci Rep. 2017 Oct 19;7(1):13544. doi: 10.1038/s41598-017-12881-8. Sci Rep. 2017. PMID: 29051512 Free PMC article.
Overexpression of the immunoreceptor CD300f has a neuroprotective role in a model of acute brain injury.
Peluffo H, Alí-Ruiz D, Ejarque-Ortíz A, Heras-Alvarez V, Comas-Casellas E, Martínez-Barriocanal A, Kamaid A, Alvarez-Errico D, Negro ML, Lago N, Schwartz S Jr, Villaverde A, Sayós J. Peluffo H, et al. Among authors: sayos j. Brain Pathol. 2012 May;22(3):318-28. doi: 10.1111/j.1750-3639.2011.00537.x. Epub 2011 Oct 31. Brain Pathol. 2012. PMID: 21951326 Free PMC article.
45 results