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Human Polyclonal MEFV Primary Antibody for WB - ABIN1881537
Cosan, Ustek, Oku, Duymaz-Tozkir, Cakiris, Abaci, Ocal, Aral, Gül: Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis. in Arthritis and rheumatism 2010
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Human Polyclonal MEFV Primary Antibody for ELISA, WB - ABIN269824
Rabinovich, Livneh, Langevitz, Brezniak, Shinar, Pras, Shinar: Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene. in Annals of the rheumatic diseases 2005
Human Polyclonal MEFV Primary Antibody for ELISA, WB - ABIN561791
Taskiran, Cetinkaya, Balci-Peynircioglu, Akkaya, Yilmaz: The effect of colchicine on pyrin and pyrin interacting proteins. in Journal of cellular biochemistry 2012
Human Polyclonal MEFV Primary Antibody for IP, WB - ABIN1169260
Papin, Cuenin, Agostini, Martinon, Werner, Beer, Grütter, Grütter, Tschopp: The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. in Cell death and differentiation 2007
One third of our childhood MS patients had a heterozygous mutation in the TNFRSF1A (显示 TNFRSF1A 抗体) and/or MEFV gene. This proportion by far exceeds the number of mutations expected and was higher than in adult MS patients, suggesting that these mutations might contribute to the pathogenesis of childhood MS.
The frequency of MEFV gene mutation was detected at a high rate of 35.9% in patients with biopsy-proven primary glomerulonephritis
Sequencing analysis found exon 2 mutations of the MEFV gene (c.329T>C [L110P], and c.442G>C [E148Q]). INTERVENTION: Her arthritis was well-controlled with colchicine treatment, but fever, and rashes were not. OUTCOMES: She eventually received tocilizumab, in addition to colchicine, and her symptoms completely disappeared. LESSONS: MEFV mutations may exist in AOSD patients, and treatment with colchicine might
Pyrin inflammasome activation persisted upon microtubule disassembly in PBMCs of FMF patients but not in cells of patients afflicted with other autoinflammatory diseases.
A novel missense MEFV variant R204H was identified in Iranian familial Mediterranean fever patients. M694V is the most common MEFV mutation in Iran.
This article summarizes the broad spectrum of clinical presentations associated with MEFV mutations and analyzes the effect of the gene dose on the phenotypical expression. Furthermore, the impact of the molecular genetic analysis on the diagnostics of a patient and on the individualized management of the disease is discussed.
Case Report: autoinflammatory syndrome with relapsing aseptic neutrophilic meningitis and chronic myelitis associated with MEFV/TNFRSF1A (显示 TNFRSF1A 抗体) mutations.
The mutations of p.R42W, p.L110P, p.E148Q, p.R202Q, p.E230K, p.369PS, and p.R408Q, which have been reported in many Familial Mediterranean Fever patients, had significant allele frequency differences with the disease-causing mutations.
Contrary to the NLRP3 (显示 NLRP3 抗体) mutations described in cryopyrin (显示 NLRP3 抗体)-associated periodic syndrome, FMF-associated MEFV mutations do not lead to a constitutive activation of Pyrin. Rather, FMF-associated mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome without affecting other canonical inflammasomes.
There was a statistically significant different response to surgical treatment between patients with periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) Syndrome with and without coexistence of Familial Mediterranean Fever features and MEFV mutations.
Pyrin (MEFV) is required for inflammasome activation and IL18 (显示 IL18 抗体) maturation, which promote intestinal barrier integrity and prevent colon inflammation and tumorigenesis.
Mechanistically, Yersinia pseudotuberculosis YopM recruits and activates the mouse host kinases PRK1 (显示 PKN1 抗体) and PRK2 (显示 PKN2 抗体) to negatively regulate pyrin by phosphorylation.
These results are consistent with a model in which pyrin acts to limit the release of IL-1beta (显示 IL1B 抗体) generated by activation and assembly of inflammasomes in response to subclinical immune challenges.
pyrin has a critical role in the innate immune response, possibly by acting on ASC (显示 STS 抗体), a known caspase-1 (显示 CASP1 抗体) activator
This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome.
Mediterranean fever protein
, Mediterranean fever
, familial mediterranean fever