Property Summary

NCBI Gene PubMed Count 331
PubMed Score 909.51
PubTator Score 1348.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 2.000 3.9e-73

Protein-protein Interaction (1)

Gene RIF (358)

PMID Text
27228648 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.
27053370 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.
26486615 50% of the heterozygous MEFV mutation carriers exhibited elevated S100A12 levels, supporting previous observations that S100 molecules are very sensitive biomarkers of subclinical inflammation.
26399837 Found a higher than expected carrier rate of MEFV gene mutations in populations from central/southeastern European countries. 40% of detected carriers carry the K695R mutation.
26360812 Most patients presenting with PFAPA syndrome have heterozygous MEFV gene mutations.
26347139 TRIM20 and TRIM21 mediate precision autophagy, controlling the hub signaling machineries and key factors, inflammasome and type I interferon, directing cardinal innate immunity response systems in humans.
26176758 MEFV mutations M694V and M680I are associated with Behcet's disease. [meta-analysis]
26123310 This is the first report of non-transmitted, acquired familial Mediterranean fever, associated with a Janus Kinase 2 driven clonal expansion of a somatic Mediterranean fever gene exon 10 mutation.
26005881 Patients with typical characteristics of FMF, with some rare mutations (A744S, P369S) should be treated in the same manner as patients with a common mutation.
26003477 Identification of rare mutations in the MEFV gene in a Turkish population.
25887307 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.
25730039 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
25703702 The four most common mutations and allelic frequencies in the marenostrin gene causing familial mediterranean fever in the Turkish children were M694V (36.50%), E148Q (32.77%), V726A (14.09%), and M694I (4.41%).
25671271 finding of MEFV mutations in two patients with myelodysplastic syndrome and Sweet's syndrome
25649364 The majority of FMF-associated mutations are located in the B30.2 (SPRY) domain, which functions as a ligand binding or a signal transduction domain, at the carboxy terminus of the protein.
25643856 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.
25617110 Among the MEFV gene mutations M694V (mainly) and also V726A and M680I were the most common ones
25604326 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.
25599741 Letter/Case Report: heterozygote E148Q mutation in patient with episodic fever and kidney allograft dysfunction.
25536725 MEFV mutation allelic frequency was not different between ankylosing spondylitis patients and healthy controls after adjusting for mutations studied
25449140 No significant difference in mutation frequency between diabetic and non-diabetic children was observed in a study of MEFV gene mutations in Egyptian children with type 1 diabetes mellitus
25413357 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.
25394530 Mutations in genetic biomarker MEFV gene related to inflammation processes may play a crucial role in chronic renal failure patients who require long-term hemodialysis.
25393764 study of mutations in MEFV associated with Familial Mediterranean fever in a Cypriot population
25286988 exon 10 genetic polymorphism is associated with adult-onset Still's disease in Japanese patients
25261100 Data indicate that the most frequent mutation of Mediterranean fever protein MEFV in Japanese patients was E148Q (40.2%), followed by M694I (21.0%), L110P (18.8%), P369S (5.4%), and R408Q (5.4%).
25232290 MEFV mutations may be related to Henoch-Schonlein purpura susceptibility in Egyptian children.
25150514 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.
25036284 the M694V allele of the pyrin was associated with AS risk in the Chinese Han population and that this mutation may be associated with the inflammatory response in the development of AS.
24980720 Results show the first report of a new mutation in exon 10 of the MEFV gene in two Turkish families. This novel pattern of insertion mutation may provide important information for further studies on FMF pathogenesis.
24965843 MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in Inflammatory myopathy with abundant macrophages (IMAM).
24929125 Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V).
24862656 Results show that children who were carriers of MEFV mutations had an 18 times higher risk of developing systemic-onset juvenile idiopathic arthritis than wild-type carriers.
24718488 analysis of the R202Q alteration of MEFV genes in Turkish children
24712487 The results of this study indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with multiple sclerosis.
24708999 Of the MEFV gene variants the most frequent genotype was the E148Q heterozygosity in hereditary periodic fever syndrome.
24564907 Our findings suggest that MEFV mutations may represent a susceptibility factor for enthesitis related arthritis in the populations of the eastern Mediterranean.
24433404 Cardiac involvement is common in children with Familial Mediterranean fever. Pericardial effusions are significantly related to the presence of mutation types E 148Q, P 369S, V726A.
24383976 MEFV gene analysis showed compound heterozygosity for L110P, E148Q, and M694I in three patients with Familial Mediterranean fever
24381109 Our study is reflecting the mutational heterogeneity of MEFV and summarize mutational spectrum of Turkey's geographical regions and overall Turkey.
24261764 The MEFV gene variations analyzed in our study do not seem to increase the overall susceptibility to systemic lupus erythematosus and do not have any strong association with its clinical manifestations.
24251727 Cluster of patients with familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic
24071932 Report frequency of MEFV mutations and relatively mild disease severity in Turkish children with familial Mediterranean fever.
24064016 MEFV mutations including E148Q mutation were not associated with the development of adult onset Still's disease in Korean patients.
24009456 In a population with a high prevalence of MEFV gene mutations, they did not find an increased mutation rate in patients with primary osteoarthritis.
23981758 MEFV mutations, especially, E148Q and M694V, mutations might be associated with Henoch-Schonlein purpura and may affect clinical presentation and laboratory findings in HSP patients.
23973724 Based on our results, MEFV mutations appear to have a role in the pathogenesis of Behcet's disease
23844200 is the first statistical demonstration that heterozygosity is not responsible for classical Mendelian FMF per se, but constitutes a susceptibility factor for clinically-similar multifactorial forms of the disease.
23812619 study found that familial Mediterranean fever (FMF) patients with or without M694V gene mutation had an increased prevalence of enthesal abnormalities compared with control group; OMERACT score to dertermine enthesitis did not differ between FMF patients with and without M694V gene mutation
23800337 genetic association studies in a population of young women in Turkey: Data suggest that mutations in MEFV are associated with dysmenorrhea with pain that is refractory to NSAIDs (non-steroidal anti-inflammatory agents).
23663176 missense mutations associated with recurrent aphthous stomatitis in Turkish population
23633568 carriage of the familial Mediterranean fever gene (MEFV) mutation Met694Val conferred Behcet disease risk in the Turkish population
23592051 genetic polymorphism is associated with longevity in the Ashkenazi population in Israel
23588594 Mutations of the MEFV gene may be responsible for rheumatic diseases other than FMF, and patients with JIA especially males, ANA negatives, and ERA subgroups should be screened for MEFV gene mutations in countries where FMF is frequent.
23505238 MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
23479736 ribotoxic stress activates the human pyrin inflammasome through a mechanism that requires p38 MAPK signaling and microtubule stability.
23360841 The results of this study suggest that MEFV gene mutations are not positively associated with a predisposition to develop rheumatoid arthritis (RA) but might increase the severity of (RA).
23356447 MEFV gene variations may be one of the geographic/region-specific potential pathogenetic links between ndyloarthritis/ankylosing spondylitis in the Turkish population.
23325590 we did not find an association between carrying a rare variant in the MEFV gene and the risk to develop multiple sclerosis
23297013 MEFV missense mutations are positively associated with predisposition to develop multiple sclerosis in Turkish population.
23269568 Genetic variations in MEFV may have role in adult onset Still's disease pathogenesis.
23228227 FMF phenotype analysis is a good indicator for disease progression in patients diagnosed with familial mediterranean fever.
23206693 this work identifies decreased expression of NLRP3 and MEFV mRNA in human ischemic heart tissue compared with non-ischemic myocardium.
23164758 When inflammatory bowel disease accompanied familial Mediterranean fever, the most common mutation was M694 V; however, the high rate (25%) of K695R mutation in our patients with FMF and IBD was not observed in previous studies.
23155201 Common gene mutations were identified in familial Mediterranean fever patients with joint involvement.
23137073 Genetic analysis confirmed M694V as the most prevalent Mediterranean fever (MEFV) gene mutation in 46 out of 59 patients (78%)in Germany.
23053724 analysis of individual variant rates revealed a significant increase in the frequency of MEFV gene mutations in dysmenorrhea patients compared with the control group
23038988 12 common mutations in the MEFV gene were analyzed, and the M694V variant was found to be associated with an adverse familial Mediterranean fever clinical outcome in the Armenian-American population.
23031807 Of the 891 patients investigated, 420 (47.13%) had at least one mutation. The most frequent MEFV mutation was E148Q, followed by M694V, M680I (G/C), P369S, V726A, R761H, A744S, M694I, K695R and F479L mutations
23015306 the presence of an NLRP3 variant with the co-existence of MEFV variants contributed to atypical autoinflammatory disease.
22960328 MEFV mutations are associated with predisposition to ankylosing spondylitis.
22953644 Report frequency of MEFV gene mutation in patients admitted to hospital with preliminary diagnosis of familian mediterranean fever who undergone a prior appendectomy.
22934972 The findings of this work may suggest a crucial relationship between mutant MEFV/pyrin and remarkable ASC up-regulation in familial Mediterranean fever inflammation.
22884555 Study shows that Familial Mediterranean fever patients who are MEFV M694V homozygotes, demonstrated a less favorable response to prophylactic colchicine treatment, manifested by the need for higher daily doses and resulting in an increased rate of side effects.
22810105 MEFV variations may be an additional susceptibility factor for IBD in certain parts of the world where the carrier rate is high, and the genetic background of the IBD patients may show regional changes.
22808562 Pyrin gene mutations in Greek patients with Behcet's disease are not more common than those in the general population.
22798132 Mutations in the MEFV gene, which is located in the short arm of chromosome 16, have been demonstrated to cause Familial Mediterranean Fever. Direct analysis of the MEFV gene is the only method to definitively diagnose Familial Mediterranean Fever.
22790142 Report 3 sibling FMF patients who have the M694V mutation with different clinical presentations. While the sister presented with abdominal pain, one of the brothers presented with erysipelas-like erythema and the other brother with bilateral sacroiliitis.
22783597 MEFV gene mutations are more frequent in Iranian Azeri Turkish children with Henoch-Schonlein Purpura (HSP) & it may be regarded as a genetic test for the diagnosis of HSP in Iranian Azeri Turkish patients.
22771921 The genotype and allele frequencies of R202Q polymorphism showed a statistically significant difference between FMF patients and controls and especially the homozygous AA genotype was significantly higher in FMF patients than healthy controls.
22705602 Among Turkish patients with familial Mediterranean fever disease, 46.6% had a heterozygous genotype, 19.9% had a homozygous genotype, and 74 (33.49%) had a compound heterozygous genotype. The most common mutation detected was heterozygote M694V (46/221)
22614345 genetics of familial Mediterranean fever is more complex than has previously been reported; heterozygous patients presenting a severe phenotype should be further analyzed for less common secondary MEFV mutations, using gene sequencing
22580583 This clinical observation supports recent findings contrasting the notion of periodic fever being a pure autosomal recessive disorder associated with recurrence of mutations leading to loss of protein function.
22532615 MEFV mutation carriage appears to modify the systemic lupus erythematosus (SLE) disease phenotype in that it contributes to an excess of inflammatory manifestations.
22467954 Data showed prevalence of familial Mediterranian fever gene mutations in Japanese people.
22453916 This is a review, which summarizes the current state of knowledge of the relationship between inherited variants in the MEFV gene and hematologic neoplasms. [review]
22451026 The prevalence of the two allele-MEFV mutations in patients with Henoch-Schonlein purpura (HSP) was found higher than that of the general population.
22368275 Human pyrin is required to detect intracellular Burkholderia cenocepacia leading to IL-1beta processing and release.
22351163 high frequency of inherited variants in the MEFV gene in patients with MDS and AML.
22337722 The MEFV gene appears to be another immunologically relevant gene locus which contributes to multiple sclerosis susceptibility.
22281876 Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G-->A are novel in Hispanic Chilean patients with hereditary periodic fever syndrome.
22207183 The rate of MEFV mutation among male and female patients were 56.78 and 48.88%, respectively.
22037353 Our findings confirmed that homozygous M694V is associated with amyloidosis in the Turkish population as well similar to Armenia, Israel, and Arabian countries.
22019805 study describes the MEFV mutational spectrum and distribution in the Algerian population; it shows that p.M694I is the most common MEFV mutation in Algerians
21901355 Report no significant relationship between the MEFV mutations in the Behcet's disease group and clinical findings.
21833519 Letter/Case Report: describe clinical response to thalidomide and colchicine in two siblings with Behcet's disease carrying a single mutated MEFV allele.
21819621 The relation between reduced MEFV expression level and Familial Mediterranean Fever was confirmed.
21789721 Allelic frequencies of the major mutations in the mutation positive groups, including M694V, E148Q, M680I(G>C), and V726A, accounted for 48.4, 16.5, 13.5, and 9.7%, respectively.
21695514 Populations with a high background carrier rate of MEFV variants have an increased frequency of M694V among ankylosing spondylitis patients with no personal or family history of Familial Mediterranean fever.
21623663 Definite MEFV mutations (M694V and M680I)seem to be a susceptibility factor for Behcet's disease in our cohort of Iranian Azeri Turkish patients.
21615705 Our results also point out a possible role of exon 2 deleted MEFV transcript in FMF pathogenesis.
21562927 This is the first report to show that an MEFV variant other than missense mutation is responsible for the familial Mediterranean fever phenotype.
21385537 The overall MEFV high carrier frequency in our cohort of Behcet's disease patients seems to be attributed to their Mediterranean extraction rather than related to Behcet's disease.
21366387 MEFV E148Q polymorphism has no effect on IL-1beta in Henoch-Schonlein purpura.
21299735 MEFV mutation may aggravate the phenotype of multiple sclerosis and predispose familial Mediterranean fever patients to develop multiple sclerosis.
21294448 analysis of the five most common MEFV mutations in Egyptian patients diagnosed with Familial Mediterranean fever (FMF); profile of MEFV gene mutations in this study suggests that the origin of FMF in Egypt is heterogeneous
21284530 Discusses the role of MEFV and TNFRS1a in the initiation of heart involvement in pericardial diseases [review]
21246368 Our data represent the first report of MEFV gene mutations causing FMF in Moroccans. The M694V and M694I are the most common MEFV mutations in Moroccan population; while the most common mutation in Arabs from the Middle-East, the V726A, was not found.
21231959 Prevalence of MEFV gene mutations and their clinical correlations in Turkish children with Henoch-Schonlein purpura.
21179105 Authors propose that a single gene deletion in MEFV resulting in alpha-thalessemia might be the cause of familial Mediterranean fever.
21153919 There is a high incidence of MEFV gene mutations in the Turkish population
20937419 Data show that five different MEFV mutations were detected in this one family.
20845072 The clinical spectrum of arthritis in 71 familial Mediterranean fever patients was retrospectively investigated. Mutations in the familial Mediterranean (MEFV) gene were screened.
20828792 In periodic fever, aphthous stomatitis, pharyngitis, and adenopathy (PFAPA) syndrome, MEFV is a modifier gene associated with an attenuated disease severity.
20828792 Observational study of gene-disease association. (HuGE Navigator)
20677014 Observational study of gene-disease association. (HuGE Navigator)
20669279 familial mediterranean fever-related MEFV variations are associated with ankylosing spondylitis, and these variations may contribute to the pathogenesis of ankylosing spondylitis, especially where prevalence of familial mediterranean fever is high.
20669279 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20645115 Mediterranean fever (MEFV) gene mutations might be one of the genetic predisposition factors in the development of ARF/RHD
20645115 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20602240 Observational study of gene-disease association. (HuGE Navigator)
20549290 Observational study of gene-disease association. (HuGE Navigator)
20534143 Observational study of gene-disease association. (HuGE Navigator)
20533539 The allele frequency of all MEFV(Mediterranean fever) variants in Ankylosing spondilitis (AS) patients was significantly higher than controls; M694V was the only variant that was significantly more common in the AS group
20533539 Observational study of gene-disease association. (HuGE Navigator)
20518828 found a high frequency of carriers for MEFV gene in patients with multiple myeloma and acute lymphocytic leukaemia.
20518828 Observational study of gene-disease association. (HuGE Navigator)
20506103 Observational study of gene-disease association. (HuGE Navigator)
20485448 Observational study of gene-disease association. (HuGE Navigator)
20483145 The results suggest that Multiple Sclerosis (MS) patients with MEFV mutation have the susceptibility to develop a more progressive disease. Moreover, these data suggest that MEFV mutations may increase the risk of MS development.
20483145 Observational study of gene-disease association. (HuGE Navigator)
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20437121 This study reports for the first time a possibly high prevalence of MEFV gene mutations in patients with myeloid neoplasm, especially myelodysplastic syndrome, polycythemia vera and acute myeloid leukemia.
20437121 Observational study of gene-disease association. (HuGE Navigator)
20406964 Observational study of gene-disease association. (HuGE Navigator)
20391345 The frequency of 6 of the most common Mediterranean fever gene mutations, M680I, M694V, M694I, V726A, P369S, and A744S, in 74 infertile men, 155 men diagnosed with familial Mediterranean fever and 55 healthy fertile men in eastern Turkey.
20391345 Observational study of gene-disease association. (HuGE Navigator)
20373849 Observational study of gene-disease association. (HuGE Navigator)
20306331 Disease-causing MEFV mutations and familial Mediterrean fever disease rate were increased among Turkish patients with inflammatory bowel disease.
20306331 Observational study of gene-disease association. (HuGE Navigator)
20224922 Study of the prevalence of MEFV mutations in patients with ulcerative colitis (UC) leads to the suggestion that patients with a severe form of the disease should be identified for MEFV mutations before the judgment of colectomy.
20224922 Observational study of gene-disease association. (HuGE Navigator)
20217092 The most commonly encountered MEFV mutation among the patients patients with FMF was M694V homozygote (25%).
20217092 Observational study of gene-disease association. (HuGE Navigator)
20194447 Observational study of gene-disease association. (HuGE Navigator)
20177433 Observational study of gene-disease association. (HuGE Navigator)
20165923 Results determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city.
20165923 Observational study of genotype prevalence. (HuGE Navigator)
20151816 investigated 316 patients with a clinical diagnosis of familial Mediterranean fever for 12 MEFV mutations including the 5 most common known mutations M694V, V726A, M694I, M680I, and E148Q
20151816 Observational study of gene-disease association. (HuGE Navigator)
20113338 Observational study of gene-disease association. (HuGE Navigator)
20041150 Rare missense variants of the MEFV gene are, collectively, associated with risk of fibromyalgia syndrome along with high levels of plasma IL-1beta.
20041150 Observational study of gene-disease association. (HuGE Navigator)
20031469 MEFV gene mutations appear to be an aggravating factor for the severity of rheumatoid arthritis in Turkish patients.
20031469 Observational study of gene-disease association. (HuGE Navigator)
20008920 Observational study of gene-disease association. (HuGE Navigator)
19998717 A 17-year-old Japanese male was diagnosed with familial Mediterranean fever (FMF)with identification of the Mediterranean fever gene (MEFV) mutation demonstrating M6941.
19934105 P369S/R408Q substitutions are associated with a highly variable phenotype, and are infrequently associated with typical familial Mediterranean fever symptoms.
19934083 Regular colchicine therapy may be administered to symptomatic patients with MEVF gene compound heterozygous mutations, regardless of the mutation type.
19934083 Observational study of gene-disease association. (HuGE Navigator)
19929404 Genotyping revealed that the carrier rate in the Azeri Turkish population was 25.5%, with E148Q being the most common mutation (11.5%) followed by V726A (1.75%).
19929404 Observational study of genotype prevalence. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19863562 MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever
19863562 Observational study of gene-disease association. (HuGE Navigator)
19845843 MEFV was the most frequent mutation found in Turkish children with Familial Mediterranean fever. The 5 most common mutations found in the MEFV gene were M694V, E148Q, M6801, V726A, and M6941
19845843 Observational study of gene-disease association. (HuGE Navigator)
19820675 The MEFV gene mutation frequency in FMF patients with acute abdomen surgical intervention was significantly higher than that in patients without such intervention
19820675 Observational study of gene-disease association. (HuGE Navigator)
19820229 Meta-analysis of gene-disease association. (HuGE Navigator)
19784369 common variants in the MEFV region do not contribute to Crohn's disease and ulcerative colitis susceptibility
19784369 Observational study of gene-disease association. (HuGE Navigator)
19777236 An association was shown between the development of amyloidosis and the presence of mutations at position 694 within the MEFV gene.
19777236 Observational study of gene-disease association. (HuGE Navigator)
19762364 Observational study of gene-disease association. (HuGE Navigator)
19755381 these results declare MEFV to be the first auto-inflammatory gene regulated by nonsense-mediated decay.
19729025 The experimental crystal structure of the pyrin B30.2 domain serves as a basis for an accurate modelling of mutations associated with familial Mediterranean fever.
19714479 The present study aims to investigate the population genetics of MEFV in Turkish familial mediterranean fever patients.
19688293 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19675583 observed high levels of nucleotide variation of MEFV gene, an excess of intermediate-frequency alleles, reduced population differentiation and a genealogy with two common haplotypes separated by deep branches.
19641922 Observational study of gene-disease association. (HuGE Navigator)
19579027 Report a high frequency of MEFV mutations in PFAPA, a periodic fever disease, of unknown etiology, characterized by aphthous stomatitis, pharyngitis and cervical adenitis.
19531756 AA amyloidosis rarely occurs in Japanese familial Mediterranean fever patients, probably due to difference in patterns of the MEFV genotype between Japanese and Mediterranean patients
19531756 Observational study of gene-disease association. (HuGE Navigator)
19494323 intracellular pyrin levels positively regulate monocyte-derived macrophage IL-1beta responsiveness to Francisella challenge
19489440 Observational study of genotype prevalence. (HuGE Navigator)
19479871 A single mutation in the MEFV gene may be much more common than was previously thought and may include up to 25% of patients who are diagnosed as having familial Mediterranean fever.
19479870 A significant subset of familial Mediterranean fever patients are carriers of only 1 MEFV mutation and demonstrate that complete MEFV sequencing is not likely to yield a second mutation.
19473580 Observational study of gene-disease association. (HuGE Navigator)
19465590 The clinical picture of patients carrying a single MEFV mutation
19449169 distribution of MEFV mutation is slightly different in the Aegean region of Turkey to other parts of Turkey & other ethnic groups where Familial Mediterranean Fever(FMF)is commonly seen; study may add some knowledge to the mutational spectrum data on FMF
19423540 Observational study of gene-disease association. (HuGE Navigator)
19397405 Observational study of genotype prevalence. (HuGE Navigator)
19373257 familial Mediterranean fever -like manifestations and related diseases were observed more often in MEFV mutation carriers.
19373257 Observational study of gene-disease association. (HuGE Navigator)
19346738 Observational study of gene-disease association. (HuGE Navigator)
19309279 We did not find an association between MEFV gene mutations and inflammatory bowel disease phenotypic characteristics. However, in patients without MEFV mutations, extraintestinal disease frequencies were higher (p<0.05).
19309279 Observational study of gene-disease association. (HuGE Navigator)
19262573 We identified the first mutations present outside of the MEFV gene open reading frame, and demonstrated that two of them may interfere with the regulation of the enhancer activity at nucleotide positions -571 and -414.
19262573 Observational study of gene-disease association. (HuGE Navigator)
19253030 The objective of this study was to identify the frequency and distribution of 12 MEFV mutations in 153 Syrian patients and perform a genotype-phenotype correlation in the patients' cohort.
19253030 Observational study of gene-disease association. (HuGE Navigator)
19210876 high prevalence of mutations of the MEFV genes in Japanese rheumatoid arthritis patients
19210876 Observational study of gene-disease association. (HuGE Navigator)
19119044 MEFV gene mutation carriage rate was not found to be significantly higher in ankylosing spondylitis patients when compared with healthy controls.
19115056 Observational study of gene-disease association. (HuGE Navigator)
19033264 Observational study of gene-disease association. (HuGE Navigator)
19026701 No associations were detected between the MEFV gene variants and the development of KD or CAL formation in KD.
19026701 Observational study of gene-disease association. (HuGE Navigator)
19026119 in Mediteranean fever (MEFV) patients a group of 3'-UTR (untranslated regions) polymorphisms in the MEFV gene that are clustered in two haplotypes
19026119 Observational study of gene-disease association. (HuGE Navigator)
19014044 Observational study of gene-disease association. (HuGE Navigator)
18984609 Observational study of gene-disease association. (HuGE Navigator)
18843775 34% of Henoch-Schonlein purpura patients were found to be heterozygous for one of the screened MEFV(Mediterranean fever protein) mutations: p.M694V , p.M680I , p.V726A , and p.E148Q
18843775 Observational study of gene-disease association. (HuGE Navigator)
18832548 Positive genetic testing for a single heterozygous mutation in the MEFV gene M694V confirmed the diagnosis of familial Mediterranean Fever.
18825879 Observational study of gene-disease association. (HuGE Navigator)
18795391 HLA-B27 positivity and/or M694V mutation may play a role in the development of sacroiliitis and the severity of seronegative spondyloarthropathy.
18795391 Observational study of gene-disease association. (HuGE Navigator)
18725973 Human genotype suggests that host genetics is a key factor in host-microbe interaction determining a specific profile of commensal microbiota in the human gut.
18725973 Observational study of gene-disease association. (HuGE Navigator)
18691160 the MEFV mutation pattern is non-uniform regarding distribution, phenotypic expression, neutrality and population genetics characteristics. Jews are the candidate population for founder effects in MEFV.
18662100 Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever is reported.
18648395 single or multiexon MEFV gene copy number changes do not contribute substantially, if at all, to the MEFV mutation spectrum.
18609258 Mediterranean fever gene (MEFV) mutations are an additional genetic susceptibility factor in Behcet's disease.
18609258 Observational study of gene-disease association. (HuGE Navigator)
18597091 Observational study of gene-disease association. (HuGE Navigator)
18577712 pyrin is cleaved by caspase-1 at Asp330, a site remote from the B30.2 domain
18576390 genotype associations remained significant in the subgroup of patients with psoriatic JIA
18576390 Observational study of gene-disease association. (HuGE Navigator)
18512793 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
18496034 MEFV mutation frequency seems to correlate positively with Mediterranean influence of the tested population.
18496034 Observational study of genotype prevalence. (HuGE Navigator)
18403822 Observational study of gene-disease association. (HuGE Navigator)
18389382 Observational study of gene-disease association. (HuGE Navigator)
18353061 M694V homozygosity is associated with phenotype II and amyloidosis compared to other common genotypes in Turkish patients with FMF.
18353061 Observational study of gene-disease association. (HuGE Navigator)
18340637 MEVF mutation seems not to play a role in in Crohn's disease in a Mediterranean area
18330885 Data show that Siva and pyrin are co-expressed, and that pyrin modulates the apoptotic response to oxidative stress mediated by Siva.
18328141 MEFV mutations occur in Japanese familial Mediterranean fever(FMF)patients though FMF is rare in Japan; genetic analyses on 14 Japanese FMF patients in this study revealed that E148Q and M694I are frequent alleles
18318646 performed molecular analysis in two families with FMF. In the first family, we report two brothers with a common genotype (M694V/V726A) but with different phenotype. In the second, we identified the M694V and K695R mutations in a presymptomatic carrier.
18307385 Observational study of genetic testing. (HuGE Navigator)
18300119 It is concluded that the clinical features and inflammatory-cytokine activities were higher in patients with FMF during the attack-free period than in healthy subjects, and the different genotype might be related to different clinical pictures.
18300119 Observational study of gene-disease association. (HuGE Navigator)
18266121 we found a higher disease severity score and higher prevalence of amyloidosis in FMF patients who were M694V mutation carriers.
18266121 Observational study of gene-disease association. (HuGE Navigator)
18219832 Observational study of gene-disease association. (HuGE Navigator)
18177471 Observational study of gene-disease association. (HuGE Navigator)
18177471 Carriage of mutated MEFV was not associated with the course and severity of IgA nephropathy or findings in kidney biopsy and urine analysis.
18177465 Observational study of genotype prevalence. (HuGE Navigator)
18177465 59 of 71 (83.1%) FMF patients in Crete had at least one MEFV mutation, five patients were homozygotes and 54 heterozygotes for FMF-associated mutations.
18097735 The allele frequencies of disease-causing mutations of MEFV(Mediterranean fever), even M694I, were <0.001. While those of E148Q, P369S, and R408Q were 0.23, 0.057, and 0.054, respectively
18061974 in Turkish Mediterranean Fever patients and their families, frequency of carriers was 27%, and the M694V/M694V genotype was more common in patients with amyloidosis
18061974 Observational study of gene-disease association. (HuGE Navigator)
18035151 study confirms that alterations in the MEFV gene are important susceptibility factors for the development of posyarteritis nodosa
18006045 Common Mediterranean mutations are frequent in the Azeri Turkish FMF patients but with some differences in the frequency of individual mutations.
18006045 Observational study of genotype prevalence. (HuGE Navigator)
18000697 mutation R761H should be included in the mutation scanning analysis researches or considered if the patient has M694V/? mutation especially in Turkish Mediterranean fever patients
17964261 PSTPIP1 mutants require pyrin to induce formation of ASC pyroptosome, a molecular platform that recruits and activates caspase-1.
17938136 study found Iranian Jews with familial Mediterranean fever have a unique spectrum of mutations including a newly described mutation, G632S, with a non-typical phenotype
17889261 intermittent hydroarthrosis may be autoinflammatory diorder associated with MEFV mutation
17711558 Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.
17711558 Observational study of gene-disease association. (HuGE Navigator)
17710881 familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with no pathologic mutation in the LMX1B gene
17697637 A review of familial Mediterranean fever caused by pyrin mutations.
17696266 critically ill patients with systemic inflammatory response syndrome and sepsis have increased pyrin mutations, and patients with SIRS and sepsis carrying the pyrin mutation seem to be susceptible for a severe disease course
17696266 Observational study of gene-disease association. (HuGE Navigator)
17665427 Observational study of gene-disease association. (HuGE Navigator)
17665427 This study shows a high prevalence of mutations of the MEFV gene in patients with anti-citrullinated protein antibody-negative palindromic rheumatism.
17594097 A novel mutation of the MEFV gene in a Greek family related to a non-classical, variably expressed FMF phenotype is reported.
17566872 spectrum of the MEFV mutations among our sampled Lebanese Familial Mediterranean Fever patients shows the high heterogeneity at the allelic level when compared to Arab and non-Arab populations
17566872 Observational study of genotype prevalence. (HuGE Navigator)
17520284 The onset of UC in infants should prompt a search for MEFV mutations as this association may influence the management of the disease.
17489852 spectrum of MEFV alterations in familial Mediterranean fever patients and healthy individuals in Greece
17469185 Country of recruitment, rather than MEFV genotype, is the key risk factor for renal amyloidosis in familial Mediterranean fever.
17454935 Observational study of gene-disease association. (HuGE Navigator)
17454935 MEFV appears to be a susceptibility and modifier gene in Behcet's disease.
17276496 Observational study of genotype prevalence. (HuGE Navigator)
17276496 The profile of the MEFV gene mutations in the Tunisian population is concordant with other Arab populations but with some differences.
17195238 Reduced expression of the MEFV gene is associated with inflammation and that it may be one of the pathogenic mechanisms of the attacks of inflammation in familial Mediterranean fever patients.
17102945 Observational study of gene-disease association. (HuGE Navigator)
17102945 Though the effects of the MEFV genotypes seem clear, there are definitely other modifying factors or genes such as MICA on the development of amyloidosis and on the course of the disease
17090974 Observational study of gene-disease association. (HuGE Navigator)
17067447 in Ethiopian Jews in Israel, comon polymorphism in MEFV locus was found and a relatively high rate of mutation E148Q was detected
17067442 one MEFV mutation may indeed be conferring a heightened inflammation as suggested by the increased frequency in inflammatory symptoms; the carrier status for MEFV mutations seem to be unique, in that they cause an alteration in the state of "health".
16907704 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16785446 The C-terminal B30.2 domain of pyrin is necessary and sufficient for the interaction with caspase-1 to modulate IL-1beta production.
16730661 A putative novel MEFV missense mutation, S702C, was localized on the constructed 3-D model.
16721494 MEFV mutations may act as a genetic susceptibility factor for vasculitides in familial mediterranean fever patients.
16707534 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
16627024 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
16627024 The severity of the disease and development of amyloidosis seem to have an association with M694V, the most common mutation in Syrian FMF patients.
16614989 Observational study of gene-disease association. (HuGE Navigator)
16614989 MEFV gene mutation show correlation between ulcertive colitis and familial mediterranean fever gene alteration.
16523438 MEFV protein mutations are associated with Familial Mediterranean fever
16523434 The gene coding the disease (MEFV) is identified on the 16th chromosome. The most common MEFV mutations are M694V, M680I, V726A and M694I located on exon 10 and E148Q located on exon 2.
16439335 Observational study of genotype prevalence. (HuGE Navigator)
16387839 Observational study of gene-disease association. (HuGE Navigator)
16387839 Carrying the proinflammatory M694V pyrin allele increases the risk for myocardial infarction. Conversely, the wild-type pyrin genotype leads to longevity in a modern environment with reduced pathogen load and improved infection control.
16378925 Observational study of genotype prevalence. (HuGE Navigator)
16378925 MEFV protein mutations are associated with Familial Mediterranean fever
16255051 Observational study of genotype prevalence. (HuGE Navigator)
16245224 Observational study of gene-disease association. (HuGE Navigator)
16245224 Our results indicate a relationship between some HLA-DR/DQ alleles and MEFV mutations in Mediterranean fever patients.
16234278 Observational study of gene-disease association. (HuGE Navigator)
16225401 Observational study of genetic testing. (HuGE Navigator)
16118480 Observational study of gene-disease association. (HuGE Navigator)
16037825 data suggest that both pyrin and cryopyrin are capable of assembling independent inflammasome complexes with ASC and procaspase-1, and activating caspase-1 via ASC oligomerization
15958759 Observational study of gene-disease association. (HuGE Navigator)
15942916 Observational study of genotype prevalence. (HuGE Navigator)
15903027 Observational study of gene-disease association. (HuGE Navigator)
15903027 The occurrence of frequent MEFV mutations in BD patients suggests that the MEFV gene is involved in the pathogenesis of Behcet's disease.
15805719 FMF is caused by mutations in the MEFV gene that encodes pyrin/marenostrin.
15724392 In Egyptian familial Mediterranean fever patients, the M694V mutation was detected in 20 patients (100%) and V726A mutation in 17 patients (85%).
15717684 Observational study of gene-disease association. (HuGE Navigator)
15717684 E148Q mutation is significantly frequent in familial Mediterranean fever
15674370 Observational study of gene-disease association. (HuGE Navigator)
15667491 Observational study of gene-disease association. (HuGE Navigator)
15667491 MEFV mutations are not associated with Crohn Disease susceptibility, yet the presence of these mutations appears to be associated with a stricturing disease pattern and extraintestinal disease manifestations of Crohn Disease.
15643295 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15458961 Observational study of gene-disease association. (HuGE Navigator)
15146467 Observational study of genetic testing. (HuGE Navigator)
15122067 Observational study of gene-disease association. (HuGE Navigator)
15071491 Observational study of gene-disease association. (HuGE Navigator)
15018633 Observational study of gene-disease association. (HuGE Navigator)
14985395 cellular location of mutant isoforms, in the presence or absence of ASC protein
14727457 Observational study of gene-disease association. (HuGE Navigator)
14727057 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
14636645 S1791 was in compound heterozygosity with MEFV mutation M694V
14615741 Observational study of gene-disease association. (HuGE Navigator)
14595024 Pyrin binds the PSTPIP1/CD2BP1 protein
14578967 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
12966608 Observational study of gene-disease association. (HuGE Navigator)
12955725 Observational study of gene-disease association. (HuGE Navigator)
12929299 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
12929299 In 412 FMF patients genotyped for MEFV mutations, M694V/M694V was the most common genotype (27%), followed by M694V/V726A (16%). The full genotype could be assessed in 57% of the patients, and one disease-causing mutation in an additional 26%.
12905488 Observational study of gene-disease association. (HuGE Navigator)
12762136 Observational study of gene-disease association. (HuGE Navigator)
12700594 Observational study of gene-disease association. (HuGE Navigator)
12687559 Observational study of gene-disease association. (HuGE Navigator)
12687559 Disease severity and the development of amyloidosis in failial Mediterranean Fever are differentially affected by genetic variations within and outside the MEFV gene.
12615073 there is a cryopyrin signaling pathway activated through the induced proximity of ASC, which is negatively regulated by pyrin
12461684 penetrance of paired recognised pathogenic MEFV mutations may frequently be incomplete
12401847 Observational study of genotype prevalence. (HuGE Navigator)
12401847 In phenotype II amyloidosis patients, the distribution of the four common MEFV mutations was not significantly different from that found in all FMF patients with typical symptoms who do or do not develop amyloidosis.
12384939 MEFV message levels are related to both the genotype and the phenotype, and suggest that the pathophysiology of FMF relies on a quantitative defect of MEFV mRNA expression.
12180071 Observational study of genotype prevalence. (HuGE Navigator)
12124996 The effects of I591T mutation imply possibly a mild mutation, benign polymorphism, or a variant influenced by another modifier.
12105243 Observational study of gene-disease association. (HuGE Navigator)
12105243 mutational spectrum in the genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks
12077709 Observational study of gene-disease association. (HuGE Navigator)
11781702 Observational study of gene-disease association. (HuGE Navigator)
11588211 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11484206 Observational study of genotype prevalence. (HuGE Navigator)
11464248 Observational study of genotype prevalence. (HuGE Navigator)
11175300 Observational study of gene-disease association. (HuGE Navigator)
11139244 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLT      1 - 70
LQVLRAINQRLLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKTPDHPEGNEGNGPRPYGGGAA     71 - 140
SLRCSQPEAGRGLSRKPLSKRREKASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSA    141 - 210
GRLQGLAGGAPGQKECRPFEVYLPSGKMRPRSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRAR    211 - 280
PTPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSGHPQASGSRSP    281 - 350
GCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSLSQEHQGHRVRPIEEVALEHK    351 - 420
KKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQM    421 - 490
VGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLL    491 - 560
HQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGNKWERLP    561 - 630
DGPQRFDSCIIVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQ    631 - 700
ASSVPPTRLLIKEPPKRVGIFVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPL    701 - 770
TICPVGGQGPD                                                               771 - 781
//

Text Mined References (335)

PMID Year Title
27228648 Update on Auto-Inflammatory Diseases and Familial Mediterranean Fever.
27066000 2016 Update on Pyrin Functions and Mechanisms of Familial Mediterranean Fever.
27053370 2016 Prevalence and significance of MEFV gene mutations in patients with sarcoidosis.
26486615 Increased serum concentrations of neutrophil-derived protein S100A12 in heterozygous carriers of MEFV mutations.
26399837 The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations.
26360812 2016 Could familial Mediterranean fever gene mutations be related to PFAPA syndrome?
26347139 2015 TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immunity.
26176758 2015 Association between MEFV Mutations M694V and M680I and Behçet's Disease: A Meta-Analysis.
26123310 2015 Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis.
26005881 Familial Mediterranean fever with a single MEFV mutation: comparison of rare and common mutations in a Turkish paediatric cohort.
26003477 2015 Familial Mediterranean fever gene mutations in north-eastern part of Anatolia with special respect to rare mutations.
25887307 2015 Familial Mediterranean fever without MEFV mutations: a case-control study.
25730039 2015 Decreased MEFV gene expression in rheumatoid arthritis patients.
25703702 2015 The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T).
25671271 2015 Sweet's syndrome in patients with MDS and MEFV mutations.
25649364 2014 Familial Mediterranean Fever.
25643856 2015 Mediterranean fever gene mutations: correlation with cytotoxic T-lymphocyte-associated antigen 4 gene polymorphism.
25617110 2014 [Familial Mediterranean Fever in children and adolescents in Georgia].
25604326 2015 [Heterozygote forms of familial Mediterranean fever can be manifested in adults as myofacial pain syndrome].
25599741 2015 Familial Mediterranean fever E148Q mutation, episodic fever and kidney allograft dysfunction.
25536725 2014 MEFV mutation frequency and effect on disease severity in ankylosing spondylitis.
25449140 2015 A study of familial Mediterranean Fever (MEFV) gene mutations in Egyptian children with type 1 diabetes mellitus.
25413357 2015 Familial Mediterranean fever gene (MEFV) mutations and disease severity in systemic lupus erythematosus (SLE): implications for the role of the E148Q MEFV allele in inflammation.
25394530 2015 Bc??--RFLP profiles for serum amiloid A1 and mutated MEFV gene prevalence in chronic renal failure patients requiring long-term hemodialysis.
25393764 2015 Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.
25286988 2015 Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease.
25261100 2014 Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations.
25232290 2014 MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura.
25150514 2015 Familial Mediterranean fever in Syrian children: phenotype-genotype correlation.
25127057 2014 TRIM proteins regulate autophagy and can target autophagic substrates by direct recognition.
25036284 2014 Mutations in the B30.2 domain of pyrin and the risk of ankylosing spondylitis in the Chinese Han population: a case-control study.
24980720 2014 A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.
24965843 2014 MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages.
24929125 2014 Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V).
24862656 2014 MEFV mutations in Egyptian children with systemic-onset juvenile idiopathic arthritis.
24718488 2014 Clinical evaluation of R202Q alteration of MEFV genes in Turkish children.
24712487 2015 The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients.
24708999 Periodic fevers in adult Greeks: clinical and molecular presentation.
24564907 Are MEFV mutations susceptibility factors in enthesitis-related arthritis patients in the eastern Mediterranean?
24433404 2014 MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study.
24383976 2013 Three Japanese patients (mother and two children) with familial Mediterranean fever associated with compound heterozygosity for L110P/E148Q/M694I and an autosomal true dominant inheritance pattern.
24381109 2014 The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey.
24261764 2014 MEFV gene variations in patients with systemic lupus erythematosus.
24251727 2014 Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.
24071932 2014 The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey.
24064016 MEFV gene mutations and their clinical significance in Korean patients with adult-onset Still's disease.
24009456 2013 The presence of MEFV gene mutations in patients with primary osteoarthritis who require surgery.
23981758 2013 MEFV gene mutations in Henoch-Schönlein purpura.
23973724 2013 Common MEFV gene mutations in Turkish patients with Behcet's disease.
23844200 2013 The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach.
23812619 2013 Does enthesopathy relate to M694V gene mutation in patients with Familial Mediterranean fever?
23800337 2013 Frequency of MEFV mutation and genotype-phenotype correlation in cases with dysmenorrhea.
23663176 2013 Association between MEFV gene mutations and recurrent aphthous stomatitis in a cohort of Turkish patients.
23633568 2013 Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.
23592051 2013 E148Q MEFV mutation carriage and longevity in individuals of Ashkenazi origin.
23588594 2013 MEFV gene mutations in Turkish children with juvenile idiopathic arthritis.
23505238 2014 MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
23479736 2013 Ribotoxic stress through p38 mitogen-activated protein kinase activates in vitro the human pyrin inflammasome.
23360841 2013 Association of MEFV gene mutations with rheumatoid factor levels in patients with rheumatoid arthritis.
23356447 2013 High prevalence of spondyloarthritis and ankylosing spondylitis among familial Mediterranean fever patients and their first-degree relatives: further evidence for the connection.
23325590 2013 Rare MEFV variants are not associated with risk to develop multiple sclerosis and severity of disease.
23297013 2013 Association of missense mutations of Mediterranean fever (MEFV) gene with multiple sclerosis in Turkish population.
23269568 2013 The association of TNFRSF1A gene and MEFV gene mutations with adult onset Still's disease.
23228227 2013 Phenotype 2 familial mediterranean fever: evaluation of 22 case series and review of the literature on phenotype 2 FMF.
23206693 2013 Reduced expression of NLRP3 and MEFV in human ischemic heart tissue.
23164758 2013 Association of inflammatory bowel disease with familial Mediterranean fever in Turkish children.
23155201 2013 The scintigraphic evaluation and genetic correlation of joint involvements in pediatric patients with familial Mediterranean fever.
23137073 2013 Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk.
23053724 2013 Increased frequency of MEFV gene mutations in patients with primary dysmenorrhea.
23038988 2013 The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA.
23031807 2012 Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.
23015306 2013 In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome.
22960328 2012 Common Mediterranean fever (MEFV) gene mutations associated with ankylosing spondylitis in Turkish population.
22953644 2012 The frequency of MEFV gene mutation in patients admitted to hospital with preliminary diagnosis of familian mediterranean fever who undergone a prior appendectomy.
22934972 2013 Apoptosis-associated speck-like protein containing a CARD (ASC) expression profiles in familial Mediterranean fever (FMF) patients with different MEFV mutation patterns.
22884555 2012 Incomplete response to colchicine in M694V homozygote FMF patients.
22810105 2013 Association of the MEFV gene variations with inflammatory bowel disease in Turkey.
22808562 2012 Mediterranean fever gene mutations in Greek patients with Behcet's disease.
22798132 2012 A rare cause of massive ascites: familial Mediterranean fever.
22790142 2012 Three family members with familial Mediterranean fever carrying the M694V mutation showed different clinical presentations.
22783597 MEFV gene mutations (M694V, V726A, M680I, and A744S) in Iranian children with Henoch-Schönlein purpura.
22771921 2012 Significance of MEFV gene R202Q polymorphism in Turkish familial Mediterranean fever patients.
22705602 A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.
22614345 2012 Frequency of alterations in the MEFV gene and clinical signs in familial Mediterranean fever in Central Anatolia, Turkey.
22580583 2012 Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population.
22532615 2012 Familial Mediterranean FeVer gene (MEFV) mutations as a modifier of systemic lupus erythematosus.
22467954 2012 Clinical relevance of MEFV gene mutations in Japanese patients with unexplained fever.
22453916 2012 High frequency of inherited variants in the MEFV gene in patients with hematologic neoplasms: a genetic susceptibility?
22451026 2013 Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schönlein purpura without FMF symptoms.
22368275 2012 Activation of the pyrin inflammasome by intracellular Burkholderia cenocepacia.
22351163 2012 Frequency of inherited variants in the MEFV gene in myelodysplastic syndrome and acute myeloid leukemia.
22337722 2012 Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis.
22281876 2012 Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience.
22207183 2012 Evaluating MEFV mutation frequency in Turkish familial Mediterranean fever suspected patients and gender correlation: a retrospective study.
22037353 2012 Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients.
22019805 2011 Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population.
21901355 2012 The frequency of MEFV gene mutations in Behcet's disease and their relation with clinical findings.
21833519 2012 Clinical response to thalidomide and colchicine in two siblings with Behcet's disease carrying a single mutated MEFV allele.
21819621 2011 Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever.
21789721 2011 [MEFV gene mutation spectrum in familial Mediterranean fever (FMF) : a single center study in the Aegean region of Turkey].
21695514 2011 Familial Mediterranean fever and seronegative arthritis.
21623663 2011 Common MEFV mutations in Iranian Azeri Turkish patients with Behçet's disease.
21615705 2011 Increased expression of exon 2 deleted MEFV transcript in familial Mediterranean fever patients.
21562927 2012 Enhanced exon 2 skipping caused by c.910G>A variant and alternative splicing of MEFV genes in two independent cases of familial Mediterranean fever.
21385537 MEFV, TNFRSF1A and CARD15 mutation analysis in Behçet's disease.
21366387 2011 Lack of effect of the MEFV E148Q polymorphism on IL-1? in Henoch-Schönlein purpura.
21299735 2011 Familial Mediterranean fever (FMF) and multiple sclerosis: an association study in one of the world's largest FMF cohorts.
21294448 2010 Analysis of common MEFV mutations in Egyptian patients with familial Mediterranean fever: molecular characterisation of the disease.
21284530 2011 Autoinflammatory diseases and cardiovascular manifestations.
21246368 2012 MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.
21231959 2011 Prevalence of MEFV gene mutations and their clinical correlations in Turkish children with Henoch-Schönlein purpura.
21179105 2011 Familial Mediterranean fever with a single MEFV mutation: can a deletion resulting in ?-thalassemia be the cause?
21153919 2011 Common Familial Mediterranean Fever gene mutations in a Turkish cohort.
20937419 Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.
20845072 2011 Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation.
20828792 2011 The familial Mediterranean fever gene as a modifier of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome.
20677014 2010 An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
20669279 2010 Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis.
20645115 2011 Mediterranean fever (MEFV) gene mutation frequency is not increased in adults with rheumatic heart disease.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20602240 2010 MEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese children.
20549290 2010 Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance.
20534143 2010 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.
20533539 2010 Increased prevalence of M694V in patients with ankylosing spondylitis: additional evidence for a link with familial mediterranean fever.
20518828 2010 The rate of MEFV gene mutations in hematolymphoid neoplasms.
20506103 2010 Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.
20485448 2010 Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.
20483145 2010 Evaluation of common mutations in the Mediterranean fever gene in Multiple Sclerosis patients: is it a susceptibility gene?
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20437121 2010 High frequency of MEFV gene mutations in patients with myeloid neoplasm.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
20391345 2010 Mediterranean fever gene mutation analysis in infertile Turkish males.
20373849 2010 Genotype-phenotype correlation in patients with familial Mediterranean fever in East Anatolia (Turkey).
20306331 2010 The association of inflammatory bowel disease and Mediterranean fever gene (MEFV) mutations in Turkish children.
20224922 2011 MEFV gene mutations and its impact on the clinical course in ulcerative colitis patients.
20217092 2011 Familial Mediterranean fever gene mutation frequencies and genotype-phenotype correlations in the Aegean region of Turkey.
20194447 2010 Familial Mediterranean fever in children presenting with attacks of fever alone.
20177433 2010 Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.
20165923 2011 Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.
20151816 2010 MEFV gene mutations in Egyptian patients with familial Mediterranean fever.
20113338 2010 Rapidly progressive Creutzfeldt-Jakob disease in patients with Familial Mediterranean Fever.
20041150 2009 Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.
20031469 2010 Prevalence and significance of MEFV gene mutations in a cohort of patients with rheumatoid arthritis.
20008920 2010 Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation.
19998717 2009 A Japanese case of familial Mediterranean fever with a MEFV gene mutation.
19934105 2010 Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.
19934083 2010 MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.
19929404 2010 Common Mediterranean fever gene mutations in the Azeri Turkish population of Iran.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19863562 2009 MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.
19845843 2009 Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype-phenotype correlation in children.
19820675 Surgery for acute abdomen and MEFV mutations in patients with FMF.
19820229 2009 Is E148Q a benign polymorphism or a disease-causing mutation?
19784369 2009 Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.
19777236 2010 MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.
19762364 2010 Neutrophil-derived S100A12 as novel biomarker of inflammation in familial Mediterranean fever.
19755381 2009 Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay.
19729025 2009 The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever.
19714479 2010 MEFV heterogeneity in Turkish Familial Mediterranean Fever patients.
19688293 2009 Does breast-feeding affect severity of familial Mediterranean fever?
19675583 2009 A population genetics study of the familial Mediterranean fever gene: evidence of balancing selection under an overdominance regime.
19641922 2010 Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: results of a single center in Central Anatolia.
19584923 2009 Pyrin Modulates the Intracellular Distribution of PSTPIP1.
19579027 2010 MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA.
19531756 2009 Clinical and genetic features of familial Mediterranean fever in Japan.
19494323 2009 Pyrin critical to macrophage IL-1beta response to Francisella challenge.
19489440 2009 [Familial Mediterranean fever as representative autoinflammatory disease].
19479871 2009 Clinical disease among patients heterozygous for familial Mediterranean fever.
19479870 2009 Familial Mediterranean fever with a single MEFV mutation: where is the second hit?
19473580 Common MEFV mutations and polymorphisms in an elderly population: an association with E148Q polymorphism and rheumatoid factor levels.
19465590 2009 The clinical spectrum of 94 patients carrying a single mutated MEFV allele.
19449169 2010 MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
19397405 2009 Screening for Familial Mediterranean Fever M694V and V726A mutations in the Greek population.
19373257 2009 MEFV mutation carriage in Israeli Jewish individuals from ethnicities with low risk for familial Mediterranean fever.
19346738 2009 Increased serum osteoprotegerin levels associated with decreased bone mineral density in familial Mediterranean fever.
19309279 2009 Detection of MEFV gene mutations in patients with inflammatory bowel disease.
19262573 2009 Characterization of new mutations in the 5'-flanking region of the familial Mediterranean fever gene.
19253030 2010 Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation.
19210876 MEFV mutations in Japanese rheumatoid arthritis patients.
19158676 2009 AIM2 activates the inflammasome and cell death in response to cytoplasmic DNA.
19119044 2009 Clinical significance of MEFV mutations in ankylosing spondylitis.
19115056 2009 The clinical and genetical features of 124 children with Familial Mediterranean fever: experience of a single tertiary center.
19109554 2009 Pyrin and ASC co-localize to cellular sites that are rich in polymerizing actin.
19033264 The effect of plasminogen activator inhibitor-1 -675 4G/5G polymorphism on familial Mediterranean fever (FMF) disease.
19026701 2009 Lack of association between E148Q MEFV variant and Kawasaki disease.
19026119 MEFV gene 3'-UTR Alu repeat polymorphisms in patients with familial Mediterranean fever.
19014044 Relation between microalbuminuria and gene mutations in familial Mediterranean fever.
18984609 2009 MEFV mutations in systemic onset juvenile idiopathic arthritis.
18843775 2008 MEFV mutations modify the clinical presentation of Henoch-Schönlein purpura.
18832548 2009 A child with recurrent episodes of fever and joint pain.
18825879 2008 Growth in familial mediterranean fever: effect of attack rate, genotype and colchicine treatment.
18795391 2009 The frequency of sacroiliitis in familial Mediterranean fever and the role of HLA-B27 and MEFV mutations in the development of sacroiliitis.
18725973 2008 Predominant role of host genetics in controlling the composition of gut microbiota.
18691160 2008 The population genetics of familial mediterranean fever: a meta-analysis study.
18662100 2008 Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever.
18648395 2008 Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.
18609258 Molecular analysis of MEFV gene mutations among Palestinian patients with Behcet's disease.
18597091 2008 The rate and significance of Mediterranean fever gene mutations in patients with ankylosing spondylitis: a three-month, longitudinal clinical study.
18577712 2008 The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment.
18576390 2008 Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.
18512793 2008 A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children.
18496034 2008 Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations.
18403822 2008 Familial Mediterranean Fever in Armenian population.
18389382 2009 The spectrum of FMF mutations and genotypes in the referrals to molecular genetic laboratory at Kirikkale University in Turkey.
18353061 2008 Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population.
18340637 2008 Familial mediterranean fever gene (MEVF) mutations in Crohn's disease in a Mediterranean area.
18330885 2008 Pyrin, product of the MEFV locus, interacts with the proapoptotic protein, Siva.
18328141 MEFV mutation analysis of familial Mediterranean fever in Japan.
18318646 2008 Different intrafamilial clinical presentation of FMF mutation carriers.
18307385 2008 Comparison of the results of PCR-RFLP and reverse hybridization methods used in molecular diagnosis of FMF.
18300119 2008 The relationship between the MEFV genotype, clinical features, and cytokine-inflammatory activities in patients with familial mediterranean fever.
18266121 2008 Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features.
18219832 2007 Familial Mediterranean fever gene and protection against asthma.
18177471 2008 Mutations in the familial Mediterranean fever gene of patients with IgA nephropathy and other forms of glomerulonephritis.
18177465 2008 Familial Mediterranean Fever in Crete: a genetic and structural biological approach in a population of 'intermediate risk'.
18097735 2008 Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations.
18061974 2008 MEFV mutations in patients with familial Mediterranean fever in the Black Sea region of Turkey: Samsun experience [corrected].
18035151 2007 Prevalence of the MEFV gene mutations in childhood polyarteritis nodosa.
18006045 2008 Common MEFV mutation analysis in Iranian Azeri Turkish patients with familial Mediterranean fever.
18000697 2008 A very frequent mutation and remarkable association of R761H with M694V mutations in Turkish familial Mediterranean fever patients.
17964261 2007 Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants.
17938136 2007 Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.
17889261 2008 May some cases of intermittent hydrarthrosis represent an atypical form of calcium pyrophosphate dihydrate crystal deposition disease? Usefulness of mutational analysis of the MEFV gene.
17711558 2008 Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.
17710881 2007 Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis.
17697637 2007 Hereditary immunologic disorders caused by pyrin and cryopyrin.
17696266 2007 The rate of pyrin mutations in critically ill patients with systemic inflammatory response syndrome and sepsis: a pilot study.
17665427 2007 An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism.
17594097 2007 A novel mutation of the familial Mediterranean fever gene in a Greek family related to a non-classical, variably expressed FMF phenotype.
17566872 2008 MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center.
17520284 2008 The familial Mediterranean fever (MEFV) gene may be a modifier factor of inflammatory bowel disease in infancy.
17489852 2007 MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.
17469185 2007 Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever.
17454935 Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis.
17431422 2007 The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing.
17276496 2007 MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.
17195238 2007 Association between reduced levels of MEFV messenger RNA in peripheral blood leukocytes and acute inflammation.
17102945 2007 The contribution of genotypes at the MICA gene triplet repeat polymorphisms and MEFV mutations to amyloidosis and course of the disease in the patients with familial Mediterranean fever.
17090974 2007 The M694V variant of the familial Mediterranean fever gene is associated with sporadic early-onset Alzheimer's disease in an Italian population sample.
17067447 A molecular basis for the absence of familial Mediterranean fever in Ethiopian Jews.
17067442 Are carriers for MEFV mutations "healthy"?
16907704 2006 Lack of association between genetic variation in 9 innate immunity genes and baseline CRP levels.
16785446 2006 The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
16730661 2006 Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).
16721494 2007 Vasculitis in siblings with familial Mediterranean fever: a report of three cases and review of the literature.
16707534 2006 A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients.
16627024 Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.
16614989 2006 Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: evidence for a potential disease-modifying effect?
16523438 Is MEFV P706 polymorphism important in familial Mediterranean fever patients?
16523434 Two sisters with familial Mediterranean fever: lack of correlation between genotype and phenotype?
16498413 2006 Structural and functional insights into the B30.2/SPRY domain.
16439335 2006 Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.
16403826 2006 Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations.
16387839 2006 Role of the pyrin M694V (A2080G) allele in acute myocardial infarction and longevity: a study in the Sicilian population.
16378925 Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.
16255051 2005 MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.
16245224 2005 Relationship between HLA-DR, HLA-DQ alleles and MEFV gene mutations in familial Mediterranean fever (FMF) patients.
16234278 2006 Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.
16225401 2005 Comparison of amplification refractory mutation system and polymerase chain reaction-restriction fragment length polymorphism techniques used for the investigation of MEFV gene exon 10 point mutations in familial Mediterranean fever patients living in Cukurova region (Turkey).
16118480 Genetic risk factors of amyloidogenesis in familial Mediterranean fever.
16037825 2006 Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization.
15958759 2005 Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene.
15942916 2005 The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series.
15903027 2005 MEFV gene is a probable susceptibility gene for Behçet's disease.
15805719 2005 A Japanese patient with familial Mediterranean fever associated with compound heterozygosity for pyrin variant E148Q/M694I.
15724392 2004 Application of refractory fragment amplification system for detection of Egyptian variant of Familial Mediterranean Fever.
15717684 2005 Familial Mediterranean fever and E148Q pyrin gene mutation in Greece.
15674370 2005 Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease.
15667491 2005 The familial Mediterranean fever (MEVF) gene as a modifier of Crohn's disease.
15643295 2005 Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15458961 2005 E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever.
15146467 2004 An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.
15122067 2004 Association of FMF-related (MEFV) point mutations with secondary and FMF amyloidosis.
15071491 2004 Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis.
15024744 2004 The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hot-spot" at the MEFV locus.
15018633 2004 Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects.
14985395 2004 Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC.
14727457 MEFV mutations are increased in Behçet's disease (BD) and are associated with vascular involvement.
14727057 2005 MEFV mutations in familial Mediterranean fever: association of M694V homozygosity with arthritis.
14679589 2004 A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
14636645 Familial Mediterranean fever with amyloidosis associated with novel exon 2 mutation (S1791) of the MEFV gene.
14615741 2003 Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura.
14595024 2003 Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.
14578967 2003 Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population.
12966608 2003 Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation?
12955725 2003 The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.
12929299 2003 Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.
12905488 2003 Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations.
12762136 2003 Serum amyloid A1 and tumor necrosis factor-alpha alleles in Turkish familial Mediterranean fever patients with and without amyloidosis.
12700594 2003 Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients.
12687559 2003 The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever.
12646168 2003 ASC is an activating adaptor for NF-kappa B and caspase-8-dependent apoptosis.
12615073 2003 Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12461684 2002 The significance of paired MEFV mutations in individuals without symptoms of familial Mediterranean fever.
12401847 2002 MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study.
12384939 2002 Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever.
12180071 2002 Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus.
12124996 2002 I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?
12105243 2002 Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.
12077709 2002 Genotype/phenotype correlations in Arab patients with familial Mediterranean fever.
12054656 2002 ASC, which is composed of a PYD and a CARD, is up-regulated by inflammation and apoptosis in human neutrophils.
11781702 2001 Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations.
11588211 2001 Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148.
11498534 2001 Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis.
11484206 2001 Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state.
11470495 2001 Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease.
11468188 2001 The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.
11464248 2001 Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.
11464238 2001 The spectrum of Familial Mediterranean Fever (FMF) mutations.
11175300 2001 Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
11139244 2001 Is the Ala138Gly alteration of MEFV gene important for amyloidosis?
11115844 2000 Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus.
10854105 2000 Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity.
10842288 2000 Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.
10807793 2000 The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators.
10787449 2000 The genetic basis of autosomal dominant familial Mediterranean fever.
10782044 2000 The familial mediterranean fever protein interacts and colocalizes with a putative Golgi transporter.
10737995 2000 The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?
10666224 2000 Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin.
10612841 2000 MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.
10364520 1999 MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
10234504 1999 Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.
10090880 1999 Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
10024914 1998 Pyrin/marenostrin mutations in familial Mediterranean fever.
9735379 1998 The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases.
9668175 1998 Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
9653642 1998 A transcriptional Map of the FMF region.
9572633 1998 Familial Mediterranean fever: from the clinical syndrome to the cloning of the pyrin gene.
9288758 1997 Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.
9288094 1997 A candidate gene for familial Mediterranean fever.
9177779 1997 Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3.
9152834 1997 Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees.