Associated Papers
Rare germline JAK/STAT variants in a Korean cohort amplify innate immune responses to vaccination.
Lee HK et al.
Iscience, 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
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F et al.
The Journal of Experimental Medicine, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.
Kantaputra P et al.
Genes, 2022
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
Luo H et al.
European Journal of Human Genetics : Ejhg, 2021
Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus.
Yin X et al.
Annals of the Rheumatic Diseases, 2021
Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.
Priedigkeit N et al.
Breast Cancer Research : Bcr, 2021
TYK2 Variants in B-Acute Lymphoblastic Leukaemia.
Turrubiartes-Martínez E et al.
Genes, 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
Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.
Ono S et al.
International Journal of Hematology, 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
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
Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia.
Stuchlý J et al.
Scientific Reports, 2017
Tyrosine kinase 2 - Surveillant of tumours and bona fide oncogene.
Leitner NR et al.
Cytokine, 2017
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
A new potential oncogenic mutation in the FERM domain of JAK2 in BCR/ABL1-negative and V617F-negative chronic myeloproliferative neoplasms revealed by a comprehensive screening of 17 tyrosine kinase coding genes.
Aranaz P et al.
Cancer Genetics and Cytogenetics, 2010
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
[Phenotyping and genotyping in patients with inflammatory bowel disease in a reference center in Colombia].
Parra Izquierdo V et al.
Revista De Gastroenterologia Del Peru : Organo Oficial De La Sociedad De Gastroenterologia Del Peru, 0