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Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.
J Exp Med. 2024 Apr 1;221(4):e20221080. doi: 10.1084/jem.20221080. Epub 2024 Feb 28.
J Exp Med. 2024.
PMID: 38417019
Free PMC article.
DECTIN-1: A modifier protein in CTLA-4 haploinsufficiency.
Turnbull C, Bones J, Stanley M, Medhavy A, Wang H, Lorenzo AMD, Cappello J, Shanmuganandam S, Pandey A, Seneviratne S, Brown GJ, Meng X, Fulcher D, Burgio G, Man SM, de Lucas Collantes C, Gasior M, López Granados E, Martin P, Jiang SH, Cook MC, Ellyard JI, Athanasopoulos V, Corry B, Canete PF, Vinuesa CG.
Turnbull C, et al. Among authors: lorenzo amd.
Sci Adv. 2023 Dec 8;9(49):eadi9566. doi: 10.1126/sciadv.adi9566. Epub 2023 Dec 6.
Sci Adv. 2023.
PMID: 38055819
Free PMC article.
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A Novel Mutation in Nucleoporin 35 Causes Murine Degenerative Colonic Smooth Muscle Myopathy.
Parish IA, Stamp LA, Lorenzo AM, Fowler SM, Sontani Y, Miosge LA, Howard DR, Goodnow CC, Young HM, Furness JB.
Parish IA, et al.
Am J Pathol. 2016 Sep;186(9):2254-61. doi: 10.1016/j.ajpath.2016.04.016. Epub 2016 Jul 16.
Am J Pathol. 2016.
PMID: 27427419
Free PMC article.
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