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Vang T Congia M Macis MD Musumeci L Orrú V Zavattari P Nika K Tautz L Taskén K Cucca F Mustelin T Bottini N 《Nature genetics》2005,37(12):1317-1319
A SNP in the gene PTPN22 is associated with type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders. T cells from carriers of the predisposing allele produce less interleukin-2 upon TCR stimulation, and the encoded phosphatase has higher catalytic activity and is a more potent negative regulator of T lymphocyte activation. We conclude that the autoimmune-predisposing allele is a gain-of-function mutant. 相似文献
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Konstantina Katsarou Alexandros Α. Lavdas Panagiota Tsitoura Elisavet Serti Panagiotis Markoulatos Penelope Mavromara Urania Georgopoulou 《Cellular and molecular life sciences : CMLS》2010,67(14):2491-2506
Although HCV is an enveloped virus, naked nucleocapsids have been reported in the serum of infected patients. The HCV core
particle serves as a protective capsid shell for the viral genome and recombinant in vitro assembled HCV core particles induce
strong specific immunity. We investigated the post-binding mechanism of recombinant core particle uptake and its intracellular
fate. In hepatic cells, these particles are internalized, most likely in a clathrin-dependent pathway, reaching early to late
endosomes and finally lysosomes. The endocytic acidic milieu is implicated in trafficking process. Using specific phosphoantibodies,
signaling pathway inhibitors and chemical agents, ERK1/2 was found to be activated in a sustained way after endocytosis, followed by downstream immediate early genes (c-fos and egr-1) modulation. We propose that the intriguing properties of cellular internalization of HCV non-enveloped particles can induce
specific ERK1/2–MAPKs events that could be important in HCV life cycle and pathogenesis of HCV infection. 相似文献
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A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes 总被引:22,自引:0,他引:22
Bottini N Musumeci L Alonso A Rahmouni S Nika K Rostamkhani M MacMurray J Meloni GF Lucarelli P Pellecchia M Eisenbarth GS Comings D Mustelin T 《Nature genetics》2004,36(4):337-338
We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D). The variants encoded by the two alleles, 1858C and 1858T, differ in a crucial amino acid residue involved in association of LYP with the negative regulatory kinase Csk. Unlike the variant encoded by the more common allele 1858C, the variant associated with T1D does not bind Csk. 相似文献
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