rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
• Late-onset FMF approaches 30% in late adulthood, but in general, onset of FMF after the age of 40 (late onset FMF) is rare, usually associated with M694V heterozygosity.
|
31401792 |
2020 |
rs28940579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
FMF-knockin (FMF-KI) mice that express chimeric pyrin protein with FMF mutation (MefvV726A/V726A) exhibit an autoinflammatory disorder mediated by autoactivation of the pyrin inflammasome.
|
30457980 |
2019 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The most common mutations in children with FMF in Turkey were M694V and R202Q.
|
30284126 |
2019 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Among the genotypes tested, homozygosity to the M</span>694V MEFV mutation was found to be associated with the most grievous phenotype in the clinical spectrum of FMF.
|
30171907 |
2019 |
rs28940579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our data suggest that M694V/V726A pyrin inflammasome mutations leading to FMF disease may contribute to gender-specific differences in microbial community structure in FMF patients.
|
29997616 |
2018 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The most common MEFV (MEditerranean FeVer) mutation was M694V in FMF patients.
|
28980897 |
2018 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our data suggest that M694V/V726A pyrin inflammasome mutations leading to FMF disease may contribute to gender-specific differences in microbial community structure in FMF patients.
|
29997616 |
2018 |
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This study shows that p.M694I homozygosity is a potential genetic risk factor for the development of renal AA-amyloidosis in Algerian FMF patients.
|
27956278 |
2017 |
rs28940579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In contrast, patients having E148Q or V726A mutant allele showed fewer clinical FMF symptoms.
|
28483595 |
2017 |
rs28940579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A FMF-knock-in mouse strain that expresses chimeric pyrin protein with a V726A mutation (Mefv<sup>V726A/V726A</sup>) was generated to model human FMF.
|
27998728 |
2017 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Furthermore, the MEFV gene-mediated inflammatory pathway increased serum acute phase reactants, and the changes in the R202Q and M694V could play a role in inflammatory-genetic diseases, such as FMF, FMF-associated amyloidosis and chronic periodontitis.
|
28590056 |
2017 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
THP-1 monocytes expressing PAAND pyrin mutations demonstrated spontaneous caspase-1-dependent IL-1β and IL-18 secretion, as well as cell death, which were significantly greater than those of wild-type and the FMF-associated mutation p.M694V.
|
28835462 |
2017 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Genetic testing revealed an apparent homozygote p.S734L LPIN2 mutation in two siblings, a heterozygote p.M694V MEFV mutation in one patient with familial Mediterranean fever and heterozygote p.Q219H PSTPIPI variant of unknown significance in one patient.
|
27860302 |
2017 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
M694V homozygosis is highly associated withal typical features of FMF and with amyloidosis.
|
27791951 |
2017 |
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Patients with a sure FMF</span> phenotype had a higher frequency of MEFV exon 10 mutation (M694I) and a lower frequency of MEFV exon 3 mutations (P369S, R408Q) compared with those with a probable FMF phenotype.
|
27473114 |
2016 |
rs28940579
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.
|
27659338 |
2016 |
rs28940579
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
Evidence of digenic inheritance in autoinflammation-associated genes.
|
27994174 |
2016 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
These results indicate that the presence of homozygous M694V gene mutation seems to increase the risk for periodontitis in FMF patients.
|
26400644 |
2016 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The FMF phenotype is known to be more severe in patients carrying the p.M694V mutation.
|
27333294 |
2016 |
rs28940578
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
|
25628446 |
2015 |
rs28940579
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population.
|
26690517 |
2015 |
rs28940579
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
|
25628446 |
2015 |
rs28940579
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.
|
25393764 |
2015 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We report on a familial Mediterranean fever (FMF) patient homozygous for p.M694V in the MEFV gene who developed chronic myelomonocytic leukemia (CMML) leading to an uncontrolled and fatal inflammatory syndrome.
|
26076658 |
2015 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Consistently, THP-1 cells transfected with FMF-associated M694V mutant pyrin displayed lower LPS/ATP-induced IL-1β compared with wild-type pyrin-transfected cells.
|
26074413 |
2015 |