Mehul Sharma
Overview
Explore the profile of Mehul Sharma including associated specialties, affiliations and a list of published articles.
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24
Citations
207
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Recent Articles
1.
Gong Q, Sharma M, Kuan E, Glass M, Chander A, Singh M, et al.
bioRxiv
. 2024 Sep;
PMID: 39314416
The generation and maintenance of protective immunity is a dynamic interplay between host and environment that is impacted by age. Understanding fundamental changes in the healthy immune system that occur...
2.
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism
Samra S, Sharma M, Vaseghi-Shanjani M, Del Bel K, Byres L, Lin S, et al.
HGG Adv
. 2023 Dec;
5(1):100259.
PMID: 38041405
Microtubule affinity-regulating kinase 4 (MARK4) is a serine/threonine kinase that plays a key role in tau phosphorylation and regulation of the mammalian target of rapamycin (mTOR) pathway. Abnormal tau phosphorylation...
3.
Vaseghi-Shanjani M, Yousefi P, Sharma M, Samra S, Sifuentes E, Turvey S, et al.
Front Allergy
. 2023 Sep;
4:1237852.
PMID: 37727514
Transcription factors (TFs) are critical components involved in regulating immune system development, maintenance, and function. Monogenic defects in certain TFs can therefore give rise to inborn errors of immunity (IEIs)...
4.
Mohajeri A, Vaseghi-Shanjani M, Rosenfeld J, Yang G, Lu H, Sharma M, et al.
J Med Genet
. 2023 Jun;
60(11):1092-1104.
PMID: 37316189
Background: Helios (encoded by ), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its...
5.
Sharma M, Leung D, Momenilandi M, Jones L, Pacillo L, James A, et al.
J Exp Med
. 2023 Mar;
220(5).
PMID: 36884218
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. We have identified 16 patients from 10...
6.
Fu M, Merrill S, Sharma M, Gibson W, Turvey S, Kobor M
Front Genet
. 2023 Feb;
14:1113086.
PMID: 36814905
Rare diseases (RDs), more than 80% of which have a genetic origin, collectively affect approximately 350 million people worldwide. Progress in next-generation sequencing technology has both greatly accelerated the pace...
7.
Fornes O, Jia A, Kuehn H, Min Q, Pannicke U, Schleussner N, et al.
Sci Immunol
. 2023 Jan;
8(79):eade7953.
PMID: 36662884
Interferon regulatory factor 4 (IRF4) is a transcription factor (TF) and key regulator of immune cell development and function. We report a recurrent heterozygous mutation in IRF4, p.T95R, causing an...
8.
Biggs C, Cordeiro-Santanach A, Prykhozhij S, Deveau A, Lin Y, Del Bel K, et al.
JCI Insight
. 2022 Dec;
7(24).
PMID: 36546480
Primary atopic disorders are a group of inborn errors of immunity that skew the immune system toward severe allergic disease. Defining the biology underlying these extreme monogenic phenotypes reveals shared...
9.
Sharma M, Fu M, Lu H, Sharma A, Modi B, Michalski C, et al.
Blood
. 2022 Jul;
140(17):1858-1874.
PMID: 35789258
The discovery of humans with monogenic disorders has a rich history of generating new insights into biology. Here we report the first human identified with complete deficiency of nuclear factor...
10.
Mumtaz S, Sharma M, Fu M, Sharma A, Mir J, Rehman A, et al.
Heart Vessels
. 2022 Feb;
37(8):1373-1379.
PMID: 35178605
Background: Worsening heart failure (WHF) is defined as persistent or worsening symptoms of heart failure that require an escalation in intravenous therapy or initiation of mechanical and ventilatory support during...