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The Unc93b1 mutation 3d disrupts exogenous antigen presentation and signaling via Toll-like receptors 3, 7 and 9.
Tabeta K, Hoebe K, Janssen EM, Du X, Georgel P, Crozat K, Mudd S, Mann N, Sovath S, Goode J, Shamel L, Herskovits AA, Portnoy DA, Cooke M, Tarantino LM, Wiltshire T, Steinberg BE, Grinstein S, Beutler B. Tabeta K, et al. Among authors: beutler b. Nat Immunol. 2006 Feb;7(2):156-64. doi: 10.1038/ni1297. Epub 2006 Jan 15. Nat Immunol. 2006. PMID: 16415873
Herpes simplex virus encephalitis in human UNC-93B deficiency.
Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, Alcais A, Picard C, Mahfoufi N, Nicolas N, Lorenzo L, Plancoulaine S, Sénéchal B, Geissmann F, Tabeta K, Hoebe K, Du X, Miller RL, Héron B, Mignot C, de Villemeur TB, Lebon P, Dulac O, Rozenberg F, Beutler B, Tardieu M, Abel L, Casanova JL. Casrouge A, et al. Among authors: beutler b. Science. 2006 Oct 13;314(5797):308-12. doi: 10.1126/science.1128346. Epub 2006 Sep 14. Science. 2006. PMID: 16973841
Systems analysis identifies an essential role for SHANK-associated RH domain-interacting protein (SHARPIN) in macrophage Toll-like receptor 2 (TLR2) responses.
Zak DE, Schmitz F, Gold ES, Diercks AH, Peschon JJ, Valvo JS, Niemistö A, Podolsky I, Fallen SG, Suen R, Stolyar T, Johnson CD, Kennedy KA, Hamilton MK, Siggs OM, Beutler B, Aderem A. Zak DE, et al. Among authors: beutler b. Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11536-41. doi: 10.1073/pnas.1107577108. Epub 2011 Jun 27. Proc Natl Acad Sci U S A. 2011. PMID: 21709223 Free PMC article.
515 results