MEFV Antibody

1. A novel single base mutation in the coding region of the MEFV gene, named K447M (p.Lys447Met, c.1340 A>T) heterozygote resulting in mutated Pyrin/Marenostrin protein was detected. PMID: 30226974
2. Propose that a variant allele of the MEFV gene may be responsible for the severity of gout. PMID: 27125729
3. its single-nucleotide variant is genetic predictor of tumor reduction in glucocorticoid-treated patients with chronic myelomonocytic leukemia. PMID: 29600428
4. Carrying the pro-inflammatory M694V mutation in MEFV can be a potential cause of early coronary heart disease. PMID: 24702757
5. R202Q/M694V gene mutations related to chronic periodontitis PMID: 28590056
6. Carriage of mutations in the MEFV gene is not associated with development of Postpericardiotomy Syndrome; however, it may affect Postpericardiotomy Syndrome severity. PMID: 28971640
7. One third of our childhood MS patients had a heterozygous mutation in the TNFRSF1A 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. PMID: 28927886
8. The frequency of MEFV gene mutation was detected at a high rate of 35.9% in patients with biopsy-proven primary glomerulonephritis PMID: 28573371
9. 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 PMID: 29642170
10. Pyrin inflammasome activation persisted upon microtubule disassembly in PBMCs of FMF patients but not in cells of patients afflicted with other autoinflammatory diseases. PMID: 27911804
11. A novel missense MEFV variant R204H was identified in Iranian familial Mediterranean fever patients. M694V is the most common MEFV mutation in Iran. PMID: 28943464
12. 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. PMID: 28154935
13. Case Report: autoinflammatory syndrome with relapsing aseptic neutrophilic meningitis and chronic myelitis associated with MEFV/TNFRSF1A mutations. PMID: 28134085
14. 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. PMID: 29178647
15. Contrary to the NLRP3 mutations described in cryopyrin-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. PMID: 29040788
16. 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. PMID: 29031862
17. The study indicates that the MEFV M694V mutation may contribute to the pathogenesis of ankylosing spondylitis. (Meta-analysis) PMID: 28800602
18. The s evaluated the distribution of MEFV mutations in a Turkish population. Their findings confirm the correlation between M694V and FMF associated amyloidosis found in earlier studies. PMID: 27225717
19. we found a significant association between genotypes of variants in rs3743930 with increased Henoch-Schonlein purpura risk, after covariates adjustment. The carriers of homozygous mutant of rs3743930 polymorphisms revealed increased HSP risk than those with wild-type homozygotes. PMID: 27796522
20. MEFV gene variations in exons 2, 3, 5 and 10 associate with major clinical symptoms of familial Mediterranean fever. Arthritis was high in K695R heterozygous genotype. PMID: 28483595
21. These results provide a novel mechanism underlying the anti-inflammatory effects of carbon monoxide, involving the IL-10-dependent upregulation of pyrin expression. PMID: 26435068
22. High carriage rates of MEFV gene mutations in gouty arthritis suggest that it may play an important role in the pathogenesis of the disease and predisposition to the disease. PMID: 27587294
23. The p.M694del variant is associated with autosomal dominantly inherited FMF in Northern European Caucasians. PMID: 27150194
24. Inflammatory bowel disease patients, in populations with a high background carrier rate of MEFV variants, should be screened for MEFV gene mutations, especially those diagnosed as indeterminate colitis. PMID: 25292286
25. This study showed that the medium- to long-term results of the kidney donors who are carriers of the MEFV gene seem to be safe. PMID: 28340799
26. this paper show that the binding of 14-3-3 and PKN proteins to familial Mediterranean fever -associated mutant pyrin is substantially decreased PMID: 27270401
27. We report two patients with mutations in pyrin presenting with recurrent infections and infantile colitis due to familial Mediterranean fever, thus illustrating how an autoinflammatory disorder can mimic a PID. PMID: 27538774
28. RHEB, the main activator of mTOR signaling, is a valid target of miR-4520a with the relative expression levels of the latter being significantly deregulated in FMF patients and highly dependent on the presence of pyrin mutations. PMID: 27636101
29. A patient with Mediterranean fever, her sisters and mother, all had tonsillectomy for tonsillitis, carried heterozygous alterations involving E148Q/P369S/R408Q. PMID: 28001092
30. demonstrated the novel gene mutation in exon 2 of MEFT. We assumed the MEFV mutation was related to the pathogenesis of pyoderma gangrenosum in our cases PMID: 26537665
31. Three novel MEFV variants, A66P, R202W and H300Q, were identified among carriers of familial Mediterranean fever in a large cohort of Iranian population. PMID: 27659338
32. 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. PMID: 27364639
33. the presence of homozygous M694V gene mutation seems to increase the risk for periodontitis in familial Mediterranean fever patients. PMID: 26400644
34. It was found that the most common four mutations (M694V, M680I [G/C], E148Q, V726A) were similar to those previously reported from different regions of Turkey. PMID: 26892483
35. Describe the MEFV mutational spectrum and distribution in a healthy Turkish population, and report a carrier rate that is much higher than expected. PMID: 27791953
36. 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. PMID: 27956278
37. Fever and MEFV gene M694V homozygosity were less frequently detected in Familial Mediterranean fever. PMID: 26842301
38. Correlate MEFV genotype and the SAA1 polymorphisms with the clinical manifestations of familial Mediterranean fever and the occurrence of amyloidosis in a large cohort of Armenian patients. PMID: 27791951
39. a guard-like mechanism of pyrin regulation, originally identified for Nod-like receptors in plant innate immunity, also exists in humans. PMID: 27030597
40. Most patients presenting with PFAPA syndrome have heterozygous MEFV gene mutations. PMID: 26360812
41. 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. PMID: 27053370
42. Most of the very early-onset patients were homozygous for M694V mutations, tended to have more severe symptoms, required relatively high doses of colchicine to control their disease, and were diagnosed after a significant delay. PMID: 27228648
43. As colchicine treatment not only improved the myofascial pain but also prevented FMF-associated amyloidosis and nephropathy, differential diagnosis of fibromyalgia in patients of Mediterranean origin should include FMF and a genetic screening of MEFV. PMID: 25604326
44. MEFV mutations M694V and M680I are associated with Behcet's disease. [meta-analysis] PMID: 26176758
45. Carrier rate for MEFV mutations was lower in the SLE group, which is in agreement with previous observations that FMF may confer some protection from SLE. Exon 10 mutations were associated with SLE nephritis after the exclusion of the E148Q mutation. PMID: 25413357
46. There was no statistically significant difference between patients and controls in incidence of -1661 A/G single nucleotide polymorphism CTLA4 nor with the clinical symptoms of Familial Mediterranean Fever and MEFV gene mutations. PMID: 25643856
47. The presence of M694V was found to be associated with more severe course of FMF, earlier age of onset and more frequent arthritis in the Syrian children with FMF compared to other FMF patients who do not have this mutation. PMID: 25150514
48. Among the MEFV gene mutations M694V (mainly) and also V726A and M680I were the most common ones PMID: 25617110
49. In this study, we investigated whether the full-length MEFV gene (MEFV-fl) and the exon 2-deleted splice isoform (MEFV-d2) expression are associated with or responsible for the clinical conditions of Rheumatoid arthritis PMID: 25730039
50. MEFV mutation-negative familial Mediterranean fever (FMF) by virtue of its classical FMF phenotype is probably associated with a genetic defect upstream or downstream to MEFV related metabolic pathway. PMID: 25887307

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HGNC: 6998

OMIM: 134610

KEGG: hsa:4210

STRING: 9606.ENSP00000219596

UniGene: Hs.632221