نتایج جستجو برای: pyrin
تعداد نتایج: 772 فیلتر نتایج به سال:
Introduction Familial Mediterranean Fever (FMF) is considered a rare disease in Japan. Our institution began screening for MEFV gene mutations in patients with periodic fever in 2005. Among the 18 patients screened, we have identified 11 (56.5%) FMF patients with heterozygous M694I/E148Q mutations. Among the other 7 patients, no pathogenic mutations were detected by the direct sequencing of all...
Introduction The importance of MEFV gene protein, Pyrin/Marenostrin (P/M) in the inflammatory pathway is well established. P/M is expressed in neutrophils, eosinophils, monocytes, dendritic cells and synovial fibroblasts. There are many MEFV transcripts which are generated by alternative splicing events including deleted exons 2,3,4,5,7 and 8 in several combinations or individually. Some of the...
Description MEFV is the gene responsible for familial Mediterranean fever, an autosomal recessive condition mostly seen in Jews, Armenians, Arabs, and Turks, characterized by recurrent episodes of painful inflammation in the abdomen, chest, and/or joints. The gene expresses itself mostly in peripheral blood leucocytes, particularly in mature granulocytes and their precursors. The expressed prot...
The human tripartite motif (TRIM) family comprises 70 members, including HIV restriction factor TRIM5alpha and disease-associated proteins TRIM20 (pyrin) and TRIM21. TRIM proteins have conserved domain architecture but diverse cellular roles. Here, we describe how the C-terminal PRYSPRY domain mediates diverse TRIM functions. The crystal structure of TRIM21 PRYSPRY in complex with its target Ig...
Methods Dual luciferase assay was used to validate a predicted miR-4520a recognition element in the 3’UTR region of the Rheb gene. The expression levels of pyrin, miR4520a and its putative target Rheb were validated in monocytes from FMF patients (n=9) and compared with healthy controls (n=8). Patients were off colchicine for two days (attack-free period) and monocytes were isolated from PBMCs....
Pyrin domain (PYD)-containing proteins are key components of pathways that regulate inflammation, apoptosis, and cytokine processing. Their importance is further evidenced by the consequences of mutations in these proteins that give rise to autoimmune and hyperinflammatory syndromes. PYDs, like other members of the death domain (DD) superfamily, are postulated to mediate homotypic interactions ...
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