نتایج جستجو برای: mefv gene mutations
تعداد نتایج: 1225908 فیلتر نتایج به سال:
Background: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory hereditary disease characterized by recurrent episodes of with sterile peritonitis, pleural inflammation, arthritis, and/or erysipelas-like rash. Among all variants the MEFV gene, according to literature, five pathogenic ones have been identified, which in 75% cases lead development typical clinical presentation: V72...
BACKGROUND Traditionally, the diagnosis of familial Mediterranean fever (FMF) has been based on clinical manifestations and the physician's experience. Following the cloning of the gene associated with this disease (MEFV), genetic analysis of its mutations has become available, providing a new tool for the establishment or confirmation of the diagnosis of FMF. OBJECTIVES We analyzed the resul...
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Results 12 patients with idiopathic uveitis were enrolled in this study. 10 of them were female and 2 were male. The youngest patient was a 7-year-old child and the oldest was 57. The most common complaints of patients was blurred vision and then eye redness. One patient was heterozygous for Wt/R761H in the MEFV genetic analyses. Genetic analysis of 12 most common MEFV mutations in the patients...
The hereditary periodic fever syndromes are a group of Mendelian disorders characterized by episodic fever and serosal or synovial inflammation. Familial Mediterranean fever (FMF) and the hyperimmunoglobulinemia D and periodic fever syndrome are both recessively inherited, while three dominantly inherited syndromes have been described, the best-characterized of which is familial Hibernian fever...
Dear Editor, Familial Mediterranean fever (FMF) is a recessively inherited disease associated with mutations in the FMF gene (MEFV), which encodes the pyrin protein. AA amyloidosis is the most devastating complication of FMF. Nonamyloid renal lesions also have been reported including vasculitis, focal diffuse glomerulonephritis, and immunoglobulin A nephropathy. M694V is the most common mutatio...
OBJECTIVES The genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes. METHODS Genotypes of HLA...
OBJECTIVE To investigate the expression of the familial Mediterranean fever (FMF) gene (MEFV) in human synovial fibroblasts. METHODS MEFV messenger RNA in synovial fibroblasts, chondrocytes, and peripheral blood leukocytes (PBLs) was analyzed by semiquantitative and real-time polymerase chain reaction and ribonuclease protection assay. The subcellular localization of pyrin, the MEFV product, ...
Introduction PFAPA syndrome (periodic fever, aphtous stomatitis, pharyngitis, adenitis) is an autoinflammatory disease, for which no genetic marker has been identified yet, and its etiology remains unknown. However, the clinical and biochemical similarities to other autoinflammatory conditions, including Familial Mediterranean Fever (FMF), suggest that a genetic impairment might constitute the ...
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