|
rs28940578
|
|
|
0.900 |
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 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Although the M694I mutation is less common among Mediterranean populations, it was present in 22 (76%) of 29 Japanese patients with FMF (previously reported cases).
|
18097735 |
2008 |
|
rs28940578
|
|
|
0.900 |
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 |
|
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 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.
|
20937419 |
2011 |
|
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 |
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.
|
24383976 |
2013 |
|
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 |
Genomic analysis showed the patient to be heterozygous for the E148Q/M694I mutation in the MEFV gene, and we diagnosed familial Mediterranean fever.
|
22766764 |
2013 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever.
|
15168590 |
2004 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
None of the Sicilian subjects studied carried the V726A and the M694I FMF-related mutations.
|
16387839 |
2006 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and L110P/E148Q/M694I (17.5%), and no patient carried the M694V mutation, the most common mutation in Mediterranean patients with FMF.
|
19531756 |
2009 |
|
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 |
|
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 |
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 |
|
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 |
|
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 |
|
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 |
None of the Sicilian subjects studied carried the V726A and the M694I FMF-related mutations.
|
16387839 |
2006 |
|
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 |
|
rs28940579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The M694V and V726A allelic frequencies were, respectively, significantly higher and lower in the group with amyloidosis, compared to the control FMF group.
|
15018633 |
2004 |
|
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 |
|
rs28940579
|
|
|
0.900 |
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 |
|
rs28940579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Forty-two BD patients who had no symptoms and family history for FMF and 66 healthy controls were screened for common MEFV gene mutations (E148Q, M680I, M694V, and V726A).
|
15903027 |
2005 |
|
rs28940579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The increased frequency of V726A gene mutation and the rarity of amyloidosis in this study suggest that Egyptian patients may have a milder form of FMF compared to other populations.
|
19777236 |
2010 |