نتایج جستجو برای: receptor 22 ptpn22
تعداد نتایج: 790456 فیلتر نتایج به سال:
Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a negative regulator of T-cell activation associated with several autoimmune diseases, including systemic lupus erythematosus (SLE). Missense rs2476601 is associated with SLE in individuals with European ancestry. Since the rs2476601 risk allele frequency differs dramatically across ethnicities, we assessed robustness of PTPN22 assoc...
OBJECTIVE We previously demonstrated the presence of two different populations among individuals with adult-onset autoimmune diabetes: those having either a high titer or a low titer of antibodies to GAD (GADAs). Protein tyrosine phosphatase nonreceptor type 22 (PTPN22) has been identified as a new susceptibility gene for type 1 diabetes and other autoimmune diseases. The aim of the present stu...
Type 1 diabetes and thyroid disease are T cell-dependent autoimmune endocrinopathies. The standard substitutive administration of the deficient hormones does not halt the autoimmune process; therefore, development of immunotherapies aiming to preserve the residual hormonal cells, is of crucial importance. PTPN22 C1858T mutation encoding for the R620W lymphoid tyrosine phosphatase variant, plays...
The huge burden of type 1 diabetes mellitus (T1DM) has been a source concern globally since the Industrial Revolution in 18th–19th centuries. To this end, studies have shown that certain environmental changes accompanied may increased risk and disease genetically predisposed individuals. However, documented synthesize these triggers are scarce. As result, current study was conceived to T1DM boo...
PTPN22 encodes the lymphoid tyrosine phosphatase (LYP) and is the second strongest non-HLA genetic risk factor for type 1 diabetes. The PTPN22 susceptibility allele generates an LYP variant with an arginine-to-tryptophan substitution at position 620 (R620W) that has been reported by several studies to impart a gain of function. However, a recent report investigating both human cells and a knock...
A key issue of Really Significant Genes (RSG) that caused Graves Disease is unresolved. RSGs are considered likely major contributors to genetic risk for a disease. These genes should be strongly linked within families and they could become clinically useful as predictors of disease. Some Graves Disease susceptibility genes have been identified. The first identified was the Human-Leucocyte-Anti...
BACKGROUND Bicuspid aortic valves predispose to ascending aortic aneurysms, but the mechanisms underlying this aortopathy remain incompletely characterized. We sought to identify epigenetic pathways predisposing to aneurysm formation in bicuspid patients. METHODS Ascending aortic aneurysm tissue samples were collected at the time of aortic replacement in subjects with bicuspid and trilea...
Abstract The tyrosine phosphatase PTPN22 encodes the enzyme Lyp (PEP in mice) all immune cells. 5–10% of North American population expresses autoimmunity risk allele 1858C>T (rs2476601) causing amino acid substitution R620W (R619W mice). This mutation alters lymphocyte activation, toll-like receptor signaling, and cytokine production. Ptpn22 knockout (PEP-null) alternative allele-express...
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