Joshua McElwee
Overview
Explore the profile of Joshua McElwee including associated specialties, affiliations and a list of published articles.
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13
Citations
2707
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Recent Articles
1.
Chovanec J, Tunc I, Hughes J, Halstead J, Mateja A, Liu Y, et al.
Blood Adv
. 2022 Sep;
7(9):1796-1810.
PMID: 36170795
Serum tryptase is a biomarker used to aid in the identification of certain myeloid neoplasms, most notably systemic mastocytosis, where basal serum tryptase (BST) levels >20 ng/mL are a minor...
2.
Diogo D, Tian C, Franklin C, Alanne-Kinnunen M, March M, Spencer C, et al.
Nat Commun
. 2018 Oct;
9(1):4285.
PMID: 30327483
Phenome-wide association studies (PheWAS) have been proposed as a possible aid in drug development through elucidating mechanisms of action, identifying alternative indications, or predicting adverse drug events (ADEs). Here, we...
3.
Afzali B, Gronholm J, Vandrovcova J, OBrien C, Sun H, Vanderleyden I, et al.
Nat Immunol
. 2017 May;
18(7):813-823.
PMID: 28530713
The transcriptional programs that guide lymphocyte differentiation depend on the precise expression and timing of transcription factors (TFs). The TF BACH2 is essential for T and B lymphocytes and is...
4.
Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, et al.
Science
. 2015 Jul;
349(6246):436-40.
PMID: 26206937
Mutations in the LRBA gene (encoding the lipopolysaccharide-responsive and beige-like anchor protein) cause a syndrome of autoimmunity, lymphoproliferation, and humoral immune deficiency. The biological role of LRBA in immunologic disease...
5.
Buchbinder D, Baker R, Lee Y, Ravell J, Zhang Y, McElwee J, et al.
J Clin Immunol
. 2014 Dec;
35(2):119-24.
PMID: 25516070
Purpose: Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two patients presented with the prior clinical diagnosis of common variable immunodeficiency (CVID) disorder marked by an early age of...
6.
Lucas C, Zhang Y, Venida A, Wang Y, Hughes J, McElwee J, et al.
J Exp Med
. 2014 Dec;
211(13):2537-47.
PMID: 25488983
Class IA phosphatidylinositol 3-kinases (PI3K), which generate PIP3 as a signal for cell growth and proliferation, exist as an intracellular complex of a catalytic subunit bound to a regulatory subunit....
7.
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
Milner J, Vogel T, Forbes L, Ma C, Stray-Pedersen A, Niemela J, et al.
Blood
. 2014 Nov;
125(4):591-9.
PMID: 25359994
Germline loss-of-function mutations in the transcription factor signal transducer and activator of transcription 3 (STAT3) cause immunodeficiency, whereas somatic gain-of-function mutations in STAT3 are associated with large granular lymphocytic leukemic,...
8.
Kuehn H, Ouyang W, Lo B, Deenick E, Niemela J, Avery D, et al.
Science
. 2014 Sep;
345(6204):1623-1627.
PMID: 25213377
Cytotoxic T lymphocyte antigen-4 (CTLA-4) is an inhibitory receptor found on immune cells. The consequences of mutations in CTLA4 in humans are unknown. We identified germline heterozygous mutations in CTLA4...
9.
Common dysregulation network in the human prefrontal cortex underlies two neurodegenerative diseases
Narayanan M, Huynh J, Wang K, Yang X, Yoo S, McElwee J, et al.
Mol Syst Biol
. 2014 Aug;
10:743.
PMID: 25080494
Using expression profiles from postmortem prefrontal cortex samples of 624 dementia patients and non-demented controls, we investigated global disruptions in the co-regulation of genes in two neurodegenerative diseases, late-onset Alzheimer's...
10.
Zhang Y, Yu X, Ichikawa M, Lyons J, Datta S, Lamborn I, et al.
J Allergy Clin Immunol
. 2014 Mar;
133(5):1400-9, 1409.e1-5.
PMID: 24589341
Background: Identifying genetic syndromes that lead to significant atopic disease can open new pathways for investigation and intervention in allergy. Objective: We sought to define a genetic syndrome of severe...