A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes

By N. Bottini, L. Musumeci, A. Alonso, S. Rahmouni, K. Nika, M. Rostamkhani, J. Macmurray, G. Meloni, P. Lucarelli, Maurizio Pellecchia and 3 more. Nature Genetics, 2004

1,504 citations recorded by the source corpus.

Subfields: Genetics, Immunology, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/0575b34daf48d7de288ad3d9d92757a8ad75fa04

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In Genetics

1. Carl D. Langefeld
2. Wentian Li
3. Shimon Sakaguchi
4. Kristin G. Ardlie

In Immunology

1. Shimon Sakaguchi
2. T. Nomura
3. M. Ono
4. N. Tonks
5. E. Shevach
6. Alexander Y. Rudensky
7. W. Zou

In Molecular Biology

1. Chris P. Ponting
2. Carl D. Langefeld
3. Andreas Heger
4. N. Tonks

Citations in the corpus

• Protein tyrosine phosphatases: from genes, to function, to disease (2006, background): “This mutation has been determined to be a common risk factor for autoimmune diseases, including type I diabete”
• Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. (2004, background): “Since this SNP has also independently been associated with type 1 diabetes (T1D) (Bottini et al. 2004) and previous data have linked defi-”
• Foxp3+CD25+CD4+ natural regulatory T cells in dominant self‐tolerance and autoimmune disease (2006, background): “The autoimmune susceptible PTPN22 variant (R620W) is a gain-of-function mutant showing an increase in intrinsic phosphatase activity (149, 150).”
• A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution. (2010, background): “4) (Bottini et al. 2004; Barrett et al. 2008; Baranzini 2009; Hafler et al. 2009).”
• Type 1 diabetes: etiology, immunology, and therapeutic strategies. (2011, background): “Indeed, the LYP protein is an important negative regulator of T-cell receptor signaling by way of dephosphorylation of Src family kinases Lck and Fyn, ITAMs of the TCR /CD3 complex, as well as ZAP-70, Vav, valosincontaining protein, and other key signaling molecules (476).”
• Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. (2005, background): “Positive associations with T1D, RA, SLE, Graves disease, and autoimmune Addison disease have been reported elsewhere (Begovich et al. 2004; Bottini et al. 2004; Kyogoku et al. 2004; Smyth et al. 2004; Velaga et al. 2004).”
• A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. (2004, neutral): “Electronic-Database Information The accession number and URLs for data presented herein are as follows: dbSNP, http://www.ncbi.nlm.nih.gov/SNP/ GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for PTPN22 major splice variant [accession number NM_015967]) Genotype-IBD Sharing Test (GIST), http://phg.mc”