Associated Papers
Heritability and Transcriptional Impact of JAK3, STAT5A and STAT6 Variants in a Tyrolean Family.
Lee HK et al.
International Journal of Molecular Sciences, 2026
Impact of rare JAK/STAT germline mutations on vaccination-induced innate immune responses in a Tyrolian population.
Hennighausen L et al.
International Journal of Biological Sciences, 2026
Rare germline JAK/STAT variants in a Korean cohort amplify innate immune responses to vaccination.
Lee HK et al.
Iscience, 2025
Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.
Hennighausen L et al.
Bmc Genomics, 2025
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
Association study of the JAK/STAT signaling pathway with susceptibility to COVID-19 in moroccan patient and in-silico analysis of rare variants.
El Houdi M et al.
Virus Research, 2025
Insights into the genetic landscape of systemic sclerosis.
El-Halwagi A et al.
Best Practice & Research. Clinical Rheumatology, 2024
Integration of risk variants from GWAS with SARS-CoV-2 RNA interactome prioritizes FUBP1 and RAB2A as risk genes for COVID-19.
Shi W et al.
Scientific Reports, 2023
Allosteric TYK2 inhibition: redefining autoimmune disease therapy beyond JAK1-3 inhibitors.
Jensen LT et al.
Ebiomedicine, 2023
Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.
Zhao M et al.
Frontiers in Genetics, 2023
Host Genetic Risk Factors Associated with COVID-19 Susceptibility and Severity in Vietnamese.
Nhung VP et al.
Genes, 2022
Targeted Sequencing of Cytokine-Induced PI3K-Related Genes in Ulcerative Colitis, Colorectal Cancer and Colitis-Associated Cancer.
Razali NN et al.
International Journal of Molecular Sciences, 2022
Coding and regulatory variants are associated with serum protein levels and disease.
Emilsson V et al.
Nature Communications, 2022
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C et al.
Human Genetics, 2022
The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus.
Pellenz FM et al.
Diabetes & Metabolism Journal, 2021
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
Genetic Investigation of Inverse Psoriasis.
Göblös A et al.
Life (basel, Switzerland), 2021
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.
Schnappauf O et al.
Pediatric Rheumatology Online Journal, 2021
Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.
Ye Y et al.
Experimental Hematology & Oncology, 2021
Association of GTF2I, NFKB1, and TYK2 Regional Polymorphisms With Systemic Sclerosis in a Chinese Han Population.
Liu C et al.
Frontiers in Immunology, 2021
Type I Interferon and the Spectrum of Susceptibility to Viral Infection and Autoimmune Disease: A Shared Genomic Signature.
Sugrue JA et al.
Frontiers in Immunology, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
Genetics of systemic sclerosis.
Ishikawa Y et al.
Journal of Scleroderma and Related Disorders, 2020
A novel targeted RNA-Seq panel identifies a subset of adult patients with acute lymphoblastic leukemia with BCR-ABL1-like characteristics.
Sánchez R et al.
Blood Cancer Journal, 2020
Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage.
Li Z et al.
Plos One, 2020
Catalytically Impaired TYK2 Variants are Protective Against Childhood- and Adult-Onset Systemic Lupus Erythematosus in Mexicans.
Contreras-Cubas C et al.
Scientific Reports, 2019
Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.
Kerner G et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
The TYK2-P1104A Autoimmune Protective Variant Limits Coordinate Signals Required to Generate Specialized T Cell Subsets.
Gorman JA et al.
Frontiers in Immunology, 2019
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.
Boisson-Dupuis S et al.
Science Immunology, 2018
Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.
Moon CM et al.
Inflammatory Bowel Diseases, 2018
The psoriasis-protective TYK2 I684S variant impairs IL-12 stimulated pSTAT4 response in skin-homing CD4+ and CD8+ memory T-cells.
Enerbäck C et al.
Scientific Reports, 2018
Comprehensive analysis of three TYK2 gene variants in the susceptibility to Chagas disease infection and cardiomyopathy.
Leon Rodriguez DA et al.
Plos One, 2018
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
Dand N et al.
Human Molecular Genetics, 2017
Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.
Demirkaya E et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
A rare coding allele in IFIH1 is protective for psoriatic arthritis.
Budu-Aggrey A et al.
Annals of the Rheumatic Diseases, 2017
Tyrosine kinase 2 - Surveillant of tumours and bona fide oncogene.
Leitner NR et al.
Cytokine, 2017
Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway.
López-Isac E et al.
Annals of the Rheumatic Diseases, 2016
Tyrosine kinase-2 gene polymorphisms are associated with ulcerative colitis and Crohn's disease in Turkish Population.
Can G et al.
Clinics and Research in Hepatology and Gastroenterology, 2015
Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.
Thareja G et al.
Bmc Genomics, 2015
TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits.
Diogo D et al.
Plos One, 2015
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Christodoulou K et al.
Gut, 2013
Tyrosine kinase 2 (TYK2) in cytokine signalling and host immunity.
Strobl B et al.
Frontiers in Bioscience (landmark Edition), 2011
Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.
Tomasson MH et al.
Blood, 2008
Genetic alterations in the tyrosine kinase transcriptome of human cancer cell lines.
Ruhe JE et al.
Cancer Research, 2007
Unraveling the genetics of systemic lupus erythematosus.
Harley JB et al.
Springer Seminars in Immunopathology, 2006