|
rs28940580
|
|
|
0.890 |
GeneticVariation |
BEFREE |
We report the first case of FMF associated with M680I in Japan.
|
19967574 |
2010 |
|
rs28940580
|
|
|
0.890 |
GeneticVariation |
BEFREE |
Furthermore, the statistically significant predominance of strong heterozygous mutations such as M694V and M680I in patients with hematolymphoid neoplasm; none had own and/or family history compatible with FMF, is interesting.
|
20518828 |
2010 |
|
rs28940580
|
|
|
0.890 |
GeneticVariation |
BEFREE |
White-blood cell count, CRP and IL-8 levels were higher in patients with FMF than in healthy subjects (p < 0.05) and also higher in M680I carriers than in the patients with M694V allele carriers.
|
18300119 |
2008 |
|
rs28940580
|
|
|
0.890 |
GeneticVariation |
BEFREE |
Haplotype analysis of 376 Familial Mediterranean Fever (FMF) patients and 100 controls from Lebanon was performed using 4 microsatellite loci to study founder effects for the five most frequent mutations within the MEFV gene (M694V, M694I, V726A, M680I and E148Q).
|
17711558 |
2008 |
|
rs28940580
|
|
|
0.890 |
GeneticVariation |
BEFREE |
In this study, the frequencies of three FMF-related MEFV mutations (M694V, M680I and V726A) were investigated in FMF patients with (AA-FMF, n = 37) and without amyloidosis (non-AA-FMF, n = 35), in patients with secondary amyloidosis related to non-FMF inflammatory conditions (S-AA, n = 19) and in a non-inflammatory control group (n = 185) by molecular genetic studies using polymerase chain reaction with the ARMS (amplification refractory mutation system) method.
|
15122067 |
2004 |
|
rs28940580
|
|
|
0.890 |
GeneticVariation |
BEFREE |
To our knowledge, this is the first association between FMF and the M680I mutation later complicated by nephrotic syndrome and fibrillary glomerulonephritis.
|
12908875 |
2003 |
|
rs28940580
|
|
|
0.890 |
GeneticVariation |
BEFREE |
Recently, the gene responsible for FMF, MEFV, has been cloned and four missense mutations (M680I, M694V, V726A and M694I) have been described.
|
10709887 |
2000 |
|
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 |