Varaico: Literature-Extracted Genetic Variants

Gene:ZAP70
Variant:p.W163C
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ZAP70

NM_001079.4:p.W163C

Associated Papers

Kazachstania pintolopesii triggers an immune-endothelial-fibroblast cascade and drives inflammatory arthritis and tissue fibrosis in genetically susceptible hosts.

Zhang H et al.

Frontiers in Cellular and Infection Microbiology, 2025

The potential of PTPN22 as a therapeutic target for rheumatoid arthritis.

Carmona FD et al.

Expert Opinion on Therapeutic Targets, 2018

Genetic association of ankylosing spondylitis with TBX21 influences T-bet and pro-inflammatory cytokine expression in humans and SKG mice as a model of spondyloarthritis.

Lau MC et al.

Annals of the Rheumatic Diseases, 2017

Loss of the Protein Tyrosine Phosphatase PTPN22 Reduces Mannan-Induced Autoimmune Arthritis in SKG Mice.

Sood S et al.

Journal of Immunology (baltimore, Md. : 1950), 2016

The SKG Mutation in ZAP-70 also Confers Arthritis Susceptibility in C57 Black Mouse Strains.

Guerard S et al.

Scandinavian Journal of Immunology, 2016

Quantitative reduction of the TCR adapter protein SLP-76 unbalances immunity and immune regulation.

Siggs OM et al.

Journal of Immunology (baltimore, Md. : 1950), 2015

Association of TCR/CD3, PTPN22, CD28 and ZAP70 gene polymorphisms with type 1 diabetes risk in Tunisian population: family based association study.

Ferjeni Z et al.

Immunology Letters, 2015

Immunodeficiency and immune dysregulation associated with proximal defects of T cell receptor signaling.

Notarangelo LD

Current Opinion in Immunology, 2014

T cell receptor-associated protein tyrosine kinases: the dynamics of tolerance regulation by phosphorylation and its role in systemic lupus erythematosus.

Barrera-Vargas A et al.

Human Immunology, 2014

A ZAP-70 kinase domain variant prevents thymocyte-positive selection despite signalling CD69 induction.

Siggs OM et al.

Immunology, 2014

Contribution of PTPN22, CD28, CTLA-4 and ZAP-70 variants to the risk of type 1 diabetes in Tunisians.

Zouidi F et al.

Gene, 2014

Association of ZAP70 and PTPN6, but Not BANK1 or CLEC2D, with inflammatory bowel disease in the Tunisian population.

Bouzid D et al.

Genetic Testing and Molecular Biomarkers, 2013

A hypomorphic allele of ZAP-70 reveals a distinct thymic threshold for autoimmune disease versus autoimmune reactivity.

Hsu LY et al.

The Journal of Experimental Medicine, 2009

Lymphocyte signaling: beyond knockouts.

Saveliev A et al.

Nature Immunology, 2009

Opposing functions of the T cell receptor kinase ZAP-70 in immunity and tolerance differentially titrate in response to nucleotide substitutions.

Siggs OM et al.

Immunity, 2007

Bruton's tyrosine kinase is essential for human B cell tolerance.

Ng YS et al.

The Journal of Experimental Medicine, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."