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Joshua J McElwee

Explore the profile of Joshua J McElwee including associated specialties, affiliations and a list of published articles. Areas
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Articles 25
Citations 2018
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Recent Articles
1.
Leit S, Greenwood J, Carriero S, Mondal S, Abel R, Ashwell M, et al.
J Med Chem . 2023 Jul; 66(15):10473-10496. PMID: 37427891
TYK2 is a key mediator of IL12, IL23, and type I interferon signaling, and these cytokines have been implicated in the pathogenesis of multiple inflammatory and autoimmune diseases such as...
2.
Leit S, Greenwood J, Mondal S, Carriero S, Dahlgren M, Harriman G, et al.
Bioorg Med Chem Lett . 2022 Jul; 73:128891. PMID: 35842205
TYK2 is a member of the JAK family of kinases and a key mediator of IL-12, IL-23, and type I interferon signaling. These cytokines have been implicated in the pathogenesis...
3.
Lynch E, DiMattia M, Albanese S, van Zundert G, Hansen J, Quispe J, et al.
Proc Natl Acad Sci U S A . 2021 Sep; 118(40). PMID: 34583994
Cytidine triphosphate synthase 1 (CTPS1) is necessary for an effective immune response, as revealed by severe immunodeficiency in CTPS1-deficient individuals [E. Martin ], [] [510], [288-292] ([2014]). CTPS1 expression is...
4.
Takeda A, Maher T, Zhang Y, Lanahan S, Bucklin M, Compton S, et al.
Nat Commun . 2019 Sep; 10(1):4364. PMID: 31554793
Phosphatidylinositol 3-kinase-gamma (PI3Kγ) is highly expressed in leukocytes and is an attractive drug target for immune modulation. Different experimental systems have led to conflicting conclusions regarding inflammatory and anti-inflammatory functions...
5.
Howe M, Dowdell K, Roy A, Niemela J, Wilson W, McElwee J, et al.
Front Immunol . 2019 Sep; 10:2000. PMID: 31507602
Interleukin-2-inducible T cell kinase (ITK) is critical for T cell signaling and cytotoxicity, and control of Epstein-Barr virus (EBV). We identified a patient with a novel homozygous missense mutation (D540N)...
6.
Vardi I, Barel O, Sperber M, Schvimer M, Nunberg M, Field M, et al.
Dig Dis Sci . 2018 Feb; 63(5):1192-1199. PMID: 29484573
Background: Advances in genomics have facilitated the discovery of monogenic disorders in patients with unique gastro-intestinal phenotypes. Syndromic diarrhea, also called tricho-hepato-enteric (THE) syndrome, results from deleterious mutations in SKIV2L...
7.
Ma C, Stinson J, Zhang Y, Abbott J, Weinreich M, Hauk P, et al.
Nat Genet . 2017 Oct; 49(11):1661. PMID: 29074947
This corrects the article DOI: 10.1038/ng.3898.
8.
Ozen A, Comrie W, Ardy R, Conde C, Dalgic B, Beser O, et al.
N Engl J Med . 2017 Jun; 377(1):52-61. PMID: 28657829
Background: Studies of monogenic gastrointestinal diseases have revealed molecular pathways critical to gut homeostasis and enabled the development of targeted therapies. Methods: We studied 11 patients with abdominal pain and...
9.
Ma C, Stinson J, Zhang Y, Abbott J, Weinreich M, Hauk P, et al.
Nat Genet . 2017 Jun; 49(8):1192-1201. PMID: 28628108
Few monogenic causes for severe manifestations of common allergic diseases have been identified. Through next-generation sequencing on a cohort of patients with severe atopic dermatitis with and without comorbid infections,...
10.
Lamborn I, Jing H, Zhang Y, Drutman S, Abbott J, Munir S, et al.
J Exp Med . 2017 Jun; 214(7):1949-1972. PMID: 28606988
MDA5 is a cytosolic sensor of double-stranded RNA (ds)RNA including viral byproducts and intermediates. We studied a child with life-threatening, recurrent respiratory tract infections, caused by viruses including human rhinovirus...