Associated Papers
Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.
Hoffmann M et al.
Scientific Reports, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
41438753 (PubMed )
Supplement: Table1.pdf
Allosteric TYK2 inhibition: redefining autoimmune disease therapy beyond JAK1-3 inhibitors.
Jensen LT et al.
Ebiomedicine, 2023
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.
Hayashi T et al.
Human Molecular Genetics, 2023
36645181 (PubMed )
Supplement: supplementary_materials_r1_ddad008.zip › Supplementary_Materials_R1_ddad008.pdf
Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.
Ogishi M et al.
The Journal of Experimental Medicine, 2022
Novel mutations of TYK2 leading to divergent clinical phenotypes.
Lv G et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022
An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.
Das J et al.
Expert Review of Clinical Immunology, 2021
Mycobacterium Intracellulare Infection Associated with TYK2 Deficiency: A Case Report and Review of the Literature.
Guo W et al.
Infection and Drug Resistance, 2020
Identification of rare coding variants in TYK2 protective for rheumatoid arthritis in the Japanese population and their effects on cytokine signalling.
Motegi T et al.
Annals of the Rheumatic Diseases, 2019
Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia.
Nemoto M et al.
Scientific Reports, 2018
Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.
Jiang J et al.
Journal of Personalized Medicine, 2018
A new heterozygous TYK2 gene mutation: Case report and review of the literature.
Xie L et al.
International Journal of Immunopathology and Pharmacology, 0
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