Associated Papers
Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.
Hennighausen L et al.
Bmc Genomics, 2025
Genetic Mutations and Small Bowel Ulcerating Disease: Role in Diagnosis?
Modi R et al.
Current Gastroenterology Reports, 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
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
Community analysis of large-scale molecular dynamics simulations elucidated dynamics-driven allostery in tyrosine kinase 2.
Lesgidou N et al.
Proteins, 2024
The role of admixture in the rare variant contribution to inflammatory bowel disease.
Astore C et al.
Genome Medicine, 2023
Human 8-cell embryos enable efficient induction of disease-preventive mutations without off-target effect by cytosine base editor.
Wei Y et al.
Protein & Cell, 2023
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
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.
Sazonovs A et al.
Nature Genetics, 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
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage.
Li Z et al.
Plos One, 2020
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
Vidmar L et al.
Scientific Reports, 2019
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL 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
A rare coding allele in IFIH1 is protective for psoriatic arthritis.
Budu-Aggrey A et al.
Annals of the Rheumatic Diseases, 2017
MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.
Rinner B et al.
Scientific Reports, 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
Rare variants, autoimmune disease, and arthritis.
Chung SA et al.
Current Opinion in Rheumatology, 2016
Protective alleles and modifier variants in human health and disease.
Harper AR et al.
Nature Reviews. Genetics, 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
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Christodoulou K et al.
Gut, 2013
A new heterozygous TYK2 gene mutation: Case report and review of the literature.
Xie L et al.
International Journal of Immunopathology and Pharmacology, 0