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Page 1
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.
Ghasempour S, Warner N, Guan R, Rodari MM, Ivanochko D, Whittaker Hawkins R, Marwaha A, Nowak JK, Liang Y, Mulder DJ, Stallard L, Li M, Yu DD, Pluthero FG, Batura V, Zhao M, Siddiqui I, Upton JEM, Hulst JM, Kahr WHA, Mendoza-Londono R, Charbit-Henrion F, Hoefsloot LH, Khiat A, Moreira D, Trindade E, Espinheira MDC, Pinto Pais I, Weerts MJA, Douben H, Kotlarz D, Snapper SB, Klein C, Dowling JJ, Julien JP, Joosten M, Cerf-Bensussan N, Freeman SA, Parlato M, van Ham TJ, Muise AM. Ghasempour S, et al. Among authors: snapper sb. J Exp Med. 2024 Dec 2;221(12):e20240546. doi: 10.1084/jem.20240546. Epub 2024 Nov 11. J Exp Med. 2024. PMID: 39526957 Free PMC article.
Gene therapy for Wiskott-Aldrich syndrome: rescue of T-cell signaling and amelioration of colitis upon transplantation of retrovirally transduced hematopoietic stem cells in mice.
Klein C, Nguyen D, Liu CH, Mizoguchi A, Bhan AK, Miki H, Takenawa T, Rosen FS, Alt FW, Mulligan RC, Snapper SB. Klein C, et al. Among authors: snapper sb. Blood. 2003 Mar 15;101(6):2159-66. doi: 10.1182/blood-2002-05-1423. Epub 2002 Nov 14. Blood. 2003. PMID: 12433691 Free article.
Retroviral WASP gene transfer into human hematopoietic stem cells reconstitutes the actin cytoskeleton in myeloid progeny cells differentiated in vitro.
Dewey RA, Avedillo Díez I, Ballmaier M, Filipovich A, Greil J, Güngör T, Happel C, Maschan A, Noyan F, Pannicke U, Schwarz K, Snapper S, Welte K, Klein C. Dewey RA, et al. Exp Hematol. 2006 Sep;34(9):1161-9. doi: 10.1016/j.exphem.2006.04.021. Exp Hematol. 2006. PMID: 16939809 Free article. Clinical Trial.
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hätscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C. Glocker EO, et al. Among authors: snapper sb. N Engl J Med. 2009 Nov 19;361(21):2033-45. doi: 10.1056/NEJMoa0907206. Epub 2009 Nov 4. N Engl J Med. 2009. PMID: 19890111 Free PMC article.
Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes.
Westerberg LS, Meelu P, Baptista M, Eston MA, Adamovich DA, Cotta-de-Almeida V, Seed B, Rosen MK, Vandenberghe P, Thrasher AJ, Klein C, Alt FW, Snapper SB. Westerberg LS, et al. Among authors: snapper sb. J Exp Med. 2010 Jun 7;207(6):1145-52. doi: 10.1084/jem.20091245. Epub 2010 May 31. J Exp Med. 2010. PMID: 20513746 Free PMC article.
IL-10R polymorphisms are associated with very-early-onset ulcerative colitis.
Moran CJ, Walters TD, Guo CH, Kugathasan S, Klein C, Turner D, Wolters VM, Bandsma RH, Mouzaki M, Zachos M, Langer JC, Cutz E, Benseler SM, Roifman CM, Silverberg MS, Griffiths AM, Snapper SB, Muise AM. Moran CJ, et al. Among authors: snapper sb. Inflamm Bowel Dis. 2013 Jan;19(1):115-23. doi: 10.1002/ibd.22974. Inflamm Bowel Dis. 2013. PMID: 22550014 Free PMC article.
230 results