Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.T714A
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STAT3

NM_139276.3:p.T714A

Associated Papers

Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.

Jacob M et al.

International Journal of Molecular Sciences, 2023

STAT3 is critical for skeletal development and bone homeostasis by regulating osteogenesis.

Zhou S et al.

Nature Communications, 2021

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

Asano T et al.

The Journal of Experimental Medicine, 2021

Phospho-Ser727 triggers a multistep inactivation of STAT3 by rapid dissociation of pY705-SH2 through C-terminal tail modulation.

Yang J et al.

International Immunology, 2020

A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome.

Chaimowitz NS et al.

Frontiers in Pediatrics, 2019

Hyper IgE recurrent infection syndrome in South Asia: is there a different outcome?

de Silva R et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2018

Myeloid-derived cullin 3 promotes STAT3 phosphorylation by inhibiting OGT expression and protects against intestinal inflammation.

Li X et al.

The Journal of Experimental Medicine, 2017

28280036 (PubMed )
Supplement: JEM_20161105_sm.pdf

Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.

Bocchini CE et al.

Blood, 2016

The Ying and Yang of STAT3 in Human Disease.

Vogel TP et al.

Journal of Clinical Immunology, 2015

A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report.

Haenen F et al.

Journal of Pediatric Genetics, 2013

14-3-3ζ interacts with stat3 and regulates its constitutive activation in multiple myeloma cells.

Zhang J et al.

Plos One, 2012

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