Associated Papers
STAT3 SH2 Domain Aspartic Acid 661 Mutations Activate Immune Gene Programs.
Lee HK et al.
Journal of Cellular and Molecular Medicine, 2026
Inborn errors of regulatory T-cell differentiation and function.
Oktelik FB et al.
The Journal of Allergy and Clinical Immunology, 2025
A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice.
Toth KA et al.
The Journal of Experimental Medicine, 2024
STAT3 gain of function: Too much of a good thing in the skin!
Ma CS et al.
The Journal of Experimental Medicine, 2024
Targeting C21orf58 is a Novel Treatment Strategy of Hepatocellular Carcinoma by Disrupting the Formation of JAK2/C21orf58/STAT3 Complex.
Jiang H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
A novel gain-of-function STAT3 variant in infantile-onset diabetes associated with multiorgan autoimmunity.
Zhou Q et al.
Molecular Genetics & Genomic Medicine, 2024
JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review.
Atschekzei F et al.
Frontiers in Immunology, 2024
A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice.
Schmitt EG et al.
Jci Insight, 2022
Cutting Edge: Systemic Autoimmunity in Murine STAT3 Gain-of-Function Syndrome Is Characterized by Effector T Cell Expansion in the Absence of Overt Regulatory T Cell Dysfunction.
Woods J et al.
Journal of Immunology (baltimore, Md. : 1950), 2022
Toward Precision Medicine with Human Pluripotent Stem Cells for Diabetes.
Memon B et al.
Stem Cells Translational Medicine, 2022
Structural and mutational analysis of member-specific STAT functions.
Erdogan F et al.
Biochimica Et Biophysica Acta. General Subjects, 2022
Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.
Bartolomé A
International Journal of Molecular Sciences, 2022
A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease.
Deng M et al.
Frontiers in Immunology, 2022
STAT3 Regulates Mitochondrial Gene Expression in Pancreatic β-Cells and Its Deficiency Induces Glucose Intolerance in Obesity.
Schaschkow A et al.
Diabetes, 2021
A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance.
Warshauer JT et al.
The Journal of Experimental Medicine, 2021
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
Tanita K et al.
Journal of Clinical Immunology, 2021
Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
Tanita K et al.
Journal of Clinical Immunology, 2021
Somatic mutations and T-cell clonality in patients with immunodeficiency.
Savola P et al.
Haematologica, 2020
Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics.
Krentz NAJ et al.
Nature Reviews. Endocrinology, 2020
Insights Into Genetic Landscape of Large Granular Lymphocyte Leukemia.
Teramo A et al.
Frontiers in Oncology, 2020
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.
Parlato M et al.
Gastroenterology, 2019
Type 1 Diabetes in STAT Protein Family Mutations: Regulating the Th17/Treg Equilibrium and Beyond.
Fabbri M et al.
Diabetes, 2019
Mutations in the signal transducer and activator of transcription family of genes in cancer.
Shahmarvand N et al.
Cancer Science, 2018
Intracellular B Lymphocyte Signalling and the Regulation of Humoral Immunity and Autoimmunity.
Taher TE et al.
Clinical Reviews in Allergy & Immunology, 2017
STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds.
Nabhani S et al.
Clinical Immunology (orlando, Fla.), 2017
An Activating STAT3 Mutation Causes Neonatal Diabetes through Premature Induction of Pancreatic Differentiation.
Saarimäki-Vire J et al.
Cell Reports, 2017
Clinical, Genetic, and Biochemical Characteristics of Early-Onset Diabetes in the Finnish Population.
Huopio H et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
The Ying and Yang of STAT3 in Human Disease.
Vogel TP et al.
Journal of Clinical Immunology, 2015
A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation.
Wienke J et al.
Oncotarget, 2015
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Haapaniemi EM et al.
Blood, 2015
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Flanagan SE et al.
Nature Genetics, 2014
Rapid and precise diagnosis of T. marneffei pulmonary infection in a HIV-negative patient with autosomal-dominant STAT3 mutation: a case report.
Zhang W et al.
Therapeutic Advances in Respiratory Disease, 0