Familial Mediterranean Fever
|
|
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 |
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common mutations in children with FMF in Turkey were M694V and R202Q.
|
30284126 |
2019 |
Familial Mediterranean Fever
|
|
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 |
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common MEFV (MEditerranean FeVer) mutation was M694V in FMF patients.
|
28980897 |
2018 |
Familial Mediterranean Fever
|
|
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 |
Familial Mediterranean Fever
|
|
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 |
Familial Mediterranean Fever
|
|
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 |
Familial Mediterranean Fever
|
|
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 |
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
M694V homozygosis is highly associated withal typical features of FMF and with amyloidosis.
|
27791951 |
2017 |
Familial Mediterranean Fever
|
|
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 |
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The FMF phenotype is known to be more severe in patients carrying the p.M694V mutation.
|
27333294 |
2016 |
Familial Mediterranean Fever
|
|
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 |
Familial Mediterranean Fever
|
|
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 |
Familial Mediterranean Fever
|
|
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 |
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
|
25628446 |
2015 |
Familial Mediterranean Fever
|
|
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 |
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The M694V mutation frequency was lower, and disease severity was relatively mild in FMF children of this region.
|
24071932 |
2014 |
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
CLINVAR |
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 |
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
Familial Mediterranean Fever
|
|
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 |
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
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 |
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
|
24123366 |
2014 |
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The allele frequency of M694V among the FMF patients with radiographic sacroiliitis was significantly higher in comparison with those without sacroiliitis (OR 4.3).
|
23356447 |
2013 |
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
All 12 common mutations in the MEFV gene were analyzed and the M694V variant was found to be associated with an adverse FMF clinical outcome in the Armenian-American population, manifested by earlier onset of disease, increased severity of disease, and renal amyloidosis.
|
23038988 |
2013 |
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Furthermore, carriage of the familial Mediterranean fever gene (MEFV) mutation Met694Val, which is known to cause recessively inherited familial Mediterranean fever, conferred BD risk in the Turkish population (OR, 2.65; P = 1.8 × 10(-12)).
|
23633568 |
2013 |