MEFV


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MEFV

A gene on chromosome 16p13.3 of the RetRo gene family that encodes pyrin or marenostrin, an important modulator of innate immunity, which is thought to control the inflammatory response in myelomonocytic cells at the level of the cytoskeleton.

Molecular pathology
Defects in MEFV cause Familial Mediterranean fever, both the autosomal dominant and autosomal recessive forms.
References in periodicals archive ?
Familial Mediterranean fever is the result of mutations in the MEFV gene encoding pyrin that is a regulatory component of the intracellular inflammasome complex required for the conversion of pro-interleukin (IL)-1[beta] into active IL-1[beta].
First, it establishes a functional consequence of A744S, a rare MEFV mutation previously not linked to disease and second, it strengthens the dogma of nonfounder pyrin mutations producing a distinct clinical and prognostic disease.
One milliliter of venous blood sample was needed to evaluate MEFV gene mutation with Vienna Lab FMF Strip Assay kit.
Sahin et al., "A case of henoch-schonlein purpura with P369S mutation in MEFV gene," Iranian Journal of Pediatrics, vol.
In addition to ELANE mutation, our patient had positive finding of familial Mediterranean fever (MEFV).
Korkmaz, "The frequency of sacroiliitis in familial Mediterranean fever and the role of HLA-B27 and MEFV mutations in the development of sacroiliitis," Clinical Rheumatology, vol.
The MEFV gene was independently cloned by American and French groups in 1997.
Ailevi Akdeniz Atesi (FMF) MEFV geninde mutasyon saptanmadi Serolojik tetkiklerde kompleman C3, C4 seviyesi normal, ELISA'da (Enzyme-linked immunosorbent assay) anti DS DNA sonucu, mantle!
Ishigatsubo et al., "Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease," Proceedings of the National Academy of Sciences of the United States of America, vol.
Wasslavik et al., "Reduced expression of NLRP3 and MEFV in human ischemic heart tissue," Biochemical and Biophysical Research Communications, vol.
Pyrin, product of the MEFV locus, interacts with the proapoptotic protein, Siva.