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
Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.
Hennighausen L et al.
Bmc Genomics, 2025
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N et al.
Nature Communications, 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
The perfect storm: unraveling the interplay of genetic predisposition and viral triggers in type 1 diabetes pathogenesis.
Veronese-Paniagua DA et al.
Frontiers in Endocrinology, 2025
Deciphering the immunocellular regulatory network in inflammatory bowel disease: from susceptibility genes to cellular effectors and toward precision therapies.
Wu Z et al.
Frontiers in Immunology, 2025
Exome Sequencing of a Blastomycosis Case-Control Cohort From Manitoba and Northwestern Ontario, Canada.
Jankowski P et al.
Mycoses, 2024
Untangling the genetics of beta cell dysfunction and death in type 1 diabetes.
Robertson CC et al.
Molecular Metabolism, 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
The Relationship between COVID-19 Severity in Children and Immunoregulatory Gene Polymorphism.
Kozak K et al.
Viruses, 2023
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.
Arniani S et al.
Leukemia, 2022
Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset.
Saevarsdottir S et al.
Annals of the Rheumatic Diseases, 2022
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C et al.
Human Genetics, 2022
Large-scale integration of the plasma proteome with genetics and disease.
Ferkingstad E et al.
Nature Genetics, 2021
De-coding genetic risk variants in type 1 diabetes.
Shapiro MR et al.
Immunology and Cell Biology, 2021
Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis.
Heng AHS et al.
Bmc Medical Genomics, 2021
Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years.
Kerner G et al.
American Journal of Human Genetics, 2021
Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg.
Alves-Leon SV et al.
Frontiers in Genetics, 2021
TYK2 Variants in B-Acute Lymphoblastic Leukaemia.
Turrubiartes-Martínez E et al.
Genes, 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
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
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
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
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
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
Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathway.
Ehm MG et al.
Plos One, 2017
Isogenic Cellular Systems Model the Impact of Genetic Risk Variants in the Pathogenesis of Type 1 Diabetes.
Wallet MA et al.
Frontiers in Endocrinology, 2017
Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity.
Dendrou CA et al.
Science Translational Medicine, 2016
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
Rare variants, autoimmune disease, and arthritis.
Chung SA et al.
Current Opinion in Rheumatology, 2016