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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernández A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ. Cook SA, et al. Among authors: orange js. Science. 2020 Jul 10;369(6500):202-207. doi: 10.1126/science.aay5663. Science. 2020. PMID: 32647003 Free PMC article.
The autoimmune regulator (AIRE), which is defective in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients, is expressed in human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17.
Kumar V, Pedroza LA, Mace EM, Seeholzer S, Cotsarelis G, Condino-Neto A, Payne AS, Orange JS. Kumar V, et al. Among authors: orange js. Am J Pathol. 2011 Mar;178(3):983-8. doi: 10.1016/j.ajpath.2010.12.007. Am J Pathol. 2011. PMID: 21356351 Free PMC article.
Invariant natural killer T cells from children with versus without food allergy exhibit differential responsiveness to milk-derived sphingomyelin.
Jyonouchi S, Abraham V, Orange JS, Spergel JM, Gober L, Dudek E, Saltzman R, Nichols KE, Cianferoni A. Jyonouchi S, et al. Among authors: orange js. J Allergy Clin Immunol. 2011 Jul;128(1):102-109.e13. doi: 10.1016/j.jaci.2011.02.026. Epub 2011 Apr 1. J Allergy Clin Immunol. 2011. PMID: 21458849 Free PMC article.
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, Frucht DM, Vinh DC, Auth RD, Freeman AF, Olivier KN, Uzel G, Zerbe CS, Spalding C, Pittaluga S, Raffeld M, Kuhns DB, Ding L, Paulson ML, Marciano BE, Gea-Banacloche JC, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM. Hsu AP, et al. Among authors: orange js. Blood. 2011 Sep 8;118(10):2653-5. doi: 10.1182/blood-2011-05-356352. Epub 2011 Jun 13. Blood. 2011. PMID: 21670465 Free PMC article.
Autoimmune regulator (AIRE) contributes to Dectin-1-induced TNF-α production and complexes with caspase recruitment domain-containing protein 9 (CARD9), spleen tyrosine kinase (Syk), and Dectin-1.
Pedroza LA, Kumar V, Sanborn KB, Mace EM, Niinikoski H, Nadeau K, Vasconcelos Dde M, Perez E, Jyonouchi S, Jyonouchi H, Banerjee PP, Ruuskanen O, Condino-Neto A, Orange JS. Pedroza LA, et al. Among authors: orange js. J Allergy Clin Immunol. 2012 Feb;129(2):464-72, 472.e1-3. doi: 10.1016/j.jaci.2011.08.027. Epub 2011 Sep 29. J Allergy Clin Immunol. 2012. PMID: 21962774
Multiple distinct NK-cell synapses.
Mace EM, Orange JS. Mace EM, et al. Among authors: orange js. Blood. 2011 Dec 15;118(25):6475-6. doi: 10.1182/blood-2011-10-381392. Blood. 2011. PMID: 22174302 Free article.
371 results