The DOI matches its Crossref record; 121 of the 121 references it cites were found in a registry or an index.
PTPN22: the archetypal non-HLA autoimmunity gene
Abstract
PTPN22 encodes a tyrosine phosphatase that is expressed by haematopoietic cells and functions as a key regulator of immune homeostasis by inhibiting T-cell receptor signalling and by selectively promoting type I interferon responses after activation of myeloid-cell pattern-recognition receptors. A single nucleotide polymorphism of PTPN22, 1858C>T (rs2476601), disrupts an interaction motif in the protein, and is the most important non-HLA genetic risk factor for rheumatoid arthritis and the second most important for juvenile idiopathic arthritis. PTPN22 exemplifies a shared autoimmunity gene, affecting the pathogenesis of systemic lupus erythematosus, vasculitis and other autoimmune diseases. In this Review, we explore the role of PTPN22 in autoimmune connective tissue disease, with particular emphasis on candidate-gene and genome-wide association studies and clinical variability of disease. We also propose a number of PTPN22-dependent functional models of the pathogenesis of autoimmune diseases.
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“PTPN22 encodes a tyrosine phosphatase that dampens T-cell receptor signaling, and polymorphisms have been associated with several autoimmune diseases. 39”
From The contemporary epidemiology, causes, and management of drug-induced liver injury (2026) · cites this paper as [39]
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Petty, R. E., Southwood, T. R. E., Manners, P. J., Baum, J., Glass, D. N., Goldenberg, J., He, X.-H., Maldonado-Cocco, J. A., Orozco-Alcalá, J., Prieur, A., et al. (2004) · PubMed · Cited by 4,176
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A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
Bottini, N., Musumeci, L., Alonso, A., Rahmouni, S., Nika, K., Rostamkhani, M., MacMurray, J., Meloni, G. F., Lucarelli, P., Pellecchia, M., et al. (2004) · Nature Genetics · doi:10.1038/ng1323 · Cited by 1,424
Self-citationGenetically Distinct Subsets within ANCA-Associated Vasculitis
Lyons, P. A., Rayner, T. F., Trivedi, S., Holle, J. U., Watts, R. A., Jayne, D. R. W., Baslund, B., Brenchley, P., Bruchfeld, A., Chaudhry, A. N., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1108735 · Cited by 1,010
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Genetic Association of the R620W Polymorphism of Protein Tyrosine Phosphatase PTPN22 with Human SLE
Kyogoku, C., Ortmann, W. A., Lee, A., Selby, S., Carlton, V. E. H., Chang, M., Ramos, P., Baechler, E. C., Batliwalla, F. M., Novitzke, J., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/423790 · Cited by 672
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The Australo-Anglo-American Spondyloarthritis Consortium (TASC) (2010) · Nature Genetics · doi:10.1038/ng.513 · Cited by 668
Criswell, L. A., Pfeiffer, K. A., Lum, R. F., Gonzales, B., Novitzke, J. M., Kern, M., Moser, K. L., Begovich, A. B., Carlton, V. E. H., Li, W., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/429096 · Cited by 601
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Research works printed but not linked: 1
- Galeazzi, M. et al. Autoinflammatory syndromes. Clin. Exp. Rheumatol. 24, S79–S85 (2006).
Cited by
Drug-induced liver injury—types and phenotypes
Hoofnagle, J. H., & Björnsson, E. S. (2019) · New England Journal of Medicine · doi:10.1056/nejmra1816149 · Cited by 652
Ncf1 polymorphism reveals oxidative regulation of autoimmune chronic inflammation
Holmdahl, R., Sareila, O., Olsson, L. M., Bäckdahl, L., & Wing, K. (2016) · Immunological Reviews · doi:10.1111/imr.12378 · Cited by 131
Immune-mediated drug-induced liver injury: immunogenetics and experimental models
Gerussi, A., Natalini, A., Antonangeli, F., Mancuso, C., Agostinetto, E., Barisani, D., Di Rosa, F., Andrade, R., & Invernizzi, P. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22094557 · Cited by 87
Nicoletti, P., Dellinger, A., Li, Y. J., Barnhart, H. X., Chalasani, N., Fontana, R. J., Odin, J. A., Serrano, J., Stolz, A., Etheridge, A. S., et al. (2023) · Gastroenterology · doi:10.1053/j.gastro.2022.11.036 · Cited by 50
Modulation of TCR Signaling by Tyrosine Phosphatases: From Autoimmunity to Immunotherapy
Castro-Sanchez, P., Teagle, A. R., Prade, S., & Zamoyska, R. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.608747 · Cited by 44
Metadata
- Authors
- Stanford, S. M., & Bottini, N.
- Venue
- Nature Reviews Rheumatology
- Published
- 2014-07-08
- Volume
- 10
- Issue
- 10
- Pages
- 602-611
- ISSN
- 1759-4790
- 1759-4804
- PMC
- PMC4375551
- Cited by
- 227
- References
- 121
- Language
- en
- Licence
- www.springer.com/tdm (tdm)
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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