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ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.
McCarl CA, Picard C, Khalil S, Kawasaki T, Röther J, Papolos A, Kutok J, Hivroz C, Ledeist F, Plogmann K, Ehl S, Notheis G, Albert MH, Belohradsky BH, Kirschner J, Rao A, Fischer A, Feske S. McCarl CA, et al. J Allergy Clin Immunol. 2009 Dec;124(6):1311-1318.e7. doi: 10.1016/j.jaci.2009.10.007. J Allergy Clin Immunol. 2009. PMID: 20004786 Free PMC article.
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.
Picard C, McCarl CA, Papolos A, Khalil S, Lüthy K, Hivroz C, LeDeist F, Rieux-Laucat F, Rechavi G, Rao A, Fischer A, Feske S. Picard C, et al. Among authors: mccarl ca. N Engl J Med. 2009 May 7;360(19):1971-80. doi: 10.1056/NEJMoa0900082. N Engl J Med. 2009. PMID: 19420366 Free PMC article.
R93W mutation in Orai1 causes impaired calcium influx in platelets.
Bergmeier W, Oh-Hora M, McCarl CA, Roden RC, Bray PF, Feske S. Bergmeier W, et al. Among authors: mccarl ca. Blood. 2009 Jan 15;113(3):675-8. doi: 10.1182/blood-2008-08-174516. Epub 2008 Oct 24. Blood. 2009. PMID: 18952890 Free PMC article.
ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis.
Maul-Pavicic A, Chiang SC, Rensing-Ehl A, Jessen B, Fauriat C, Wood SM, Sjöqvist S, Hufnagel M, Schulze I, Bass T, Schamel WW, Fuchs S, Pircher H, McCarl CA, Mikoshiba K, Schwarz K, Feske S, Bryceson YT, Ehl S. Maul-Pavicic A, et al. Among authors: mccarl ca. Proc Natl Acad Sci U S A. 2011 Feb 22;108(8):3324-9. doi: 10.1073/pnas.1013285108. Epub 2011 Feb 7. Proc Natl Acad Sci U S A. 2011. PMID: 21300876 Free PMC article.
MOG autoantibodies trigger a tightly-controlled FcR and BTK-driven microglia proliferative response.
Pellerin K, Rubino SJ, Burns JC, Smith BA, McCarl CA, Zhu J, Jandreski L, Cullen P, Carlile TM, Li A, Rebollar JV, Sybulski J, Reynolds TL, Zhang B, Basile R, Tang H, Harp CP, Pellerin A, Silbereis J, Franchimont N, Cahir-McFarland E, Ransohoff RM, Cameron TO, Mingueneau M. Pellerin K, et al. Among authors: mccarl ca. Brain. 2021 Sep 4;144(8):2361-2374. doi: 10.1093/brain/awab231. Brain. 2021. PMID: 34145876
Discovery of BIO-8169─A Highly Potent, Selective, and Brain-Penetrant IRAK4 Inhibitor for the Treatment of Neuroinflammation.
Pfaffenbach M, Bolduc PN, Xin Z, Gao F, Evans R, Fang T, Chodaparambil JV, Henry KL, Li P, Mathieu S, Metrick C, Vera Rebollar JA, Gu RF, Mccarl CA, Silbereis J, Peterson EA. Pfaffenbach M, et al. Among authors: mccarl ca. J Med Chem. 2024 May 23;67(10):8383-8395. doi: 10.1021/acs.jmedchem.4c00560. Epub 2024 May 2. J Med Chem. 2024. PMID: 38695469
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