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Three novel MEFV variants, A66P, R202W and H300Q, were identified among carriers of familial Mediterranean fever in a large cohort of Iranian population.
Healthy individuals may bear E148Q and K695R MEFV gene mutations, as well as R202Q polymorphism in homozygous state. The determined gene alterations contribute to a subtle oxidative stress and may be associated with more frequent episodes of fever and unspecific inflammatory manifestations.
the presence of homozygous M694V gene mutation seems to increase the risk for periodontitis in familial Mediterranean fever patients.
Describe the MEFV mutational spectrum and distribution in a healthy Turkish population, and report a carrier rate that is much higher than expected.
This study shows that p.M694I homozygosity in MEFV is a potential genetic risk factor for the development of renal AA-amyloidosis in Algerian Familial Mediterranean fever patients.
Fever and MEFV gene M694V homozygosity were less frequently detected in Familial Mediterranean fever.
Correlate MEFV genotype and the SAA1 (show SAA1 Proteins) polymorphisms with the clinical manifestations of familial Mediterranean fever and the occurrence of amyloidosis in a large cohort of Armenian patients.
a guard-like mechanism of pyrin regulation, originally identified for Nod-like receptors in plant innate immunity, also exists in humans.
Most patients presenting with PFAPA syndrome have heterozygous MEFV gene mutations.
When compared with the control group, a lower prevalence of the MEFV gene mutation carrier was found in sarcoidosis patients but this was not statistically significant.
These results are consistent with a model in which pyrin acts to limit the release of IL-1beta (show IL1B Proteins) 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 (show STS Proteins), a known caspase-1 (show CASP1 Proteins) 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