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 |
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 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The most common mutations in children with FMF in Turkey were M694V and R202Q.
|
30284126 |
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 |
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 |
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 |
M694V homozygosis is highly associated withal typical features of FMF and with amyloidosis.
|
27791951 |
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 |
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 |
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 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Forty-seven genetic-negative, 60 genetically heterogeneous and 57 p.M694V homozygous FMF patients were enrolled to the study.
|
25887307 |
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 |
In order to determine the association between M694V and clinical features of FM</span>F, we compared the disease features between patients with and without this mutation.
|
25150514 |
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 |
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations.
|
24318677 |
2014 |
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Typical FMF phenotype frequencies were decreased in patients carrying 2 or a single low-penetrance mutations compared with those carrying 2 or a single high-penetrance mutations (M694I), with an opposite trend for the atypical FMF phenotype.
|
24797171 |
2014 |
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I.
|
24593212 |
2014 |
rs28940579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients.
|
24071932 |
2014 |