Associated Papers
Detection of germline variants in human population chronically exposed to high level natural background radiation in Kerala coast.
Jain V et al.
Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 2026
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
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK7_het
Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.
Gao F et al.
Cancer Medicine, 2023
36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1
Oncogenic TYK2 P760L kinase is effectively targeted by combinatorial TYK2, mTOR and CDK4/6 kinase blockade.
Woess K et al.
Haematologica, 2023
Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.
Gao F et al.
Frontiers in Genetics, 2021
34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1
TYK2 Variants in B-Acute Lymphoblastic Leukaemia.
Turrubiartes-Martínez E et al.
Genes, 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
31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.
Diets IJ et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
28973304 (PubMed )
Supplement: dand_exomewideassociationstudy_hmg_2017_supplementaryexcel_ddx328.xlsx › Supp_Table_10
Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences.
Waanders E et al.
Leukemia, 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 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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