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 |
None of the Sicilian subjects studied carried the V726A and the M694I FMF-related mutations.
|
16387839 |
2006 |
rs28940579
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
|
25628446 |
2015 |
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 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Despite evidence that environmental factors (EFs) and genetic factors, including MEFV mutations (such as M694V, E148Q) and background modifier genes (MGs), affect the clinical manifestations of FMF, the relative contribution of each remains unknown.
|
22019429 |
2012 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In both cases, S1791 was in compound heterozygosity with MEFV mutation M694V, and the characteristic clinical syndrome of FMF including amyloidosis was found.
|
14636645 |
2004 |
rs61752717
|
|
|
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 |
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 |
Pulmonary manifestations during FMF attacks are significantly more common in the Jewish population bearing the M694V mutation.
|
12746942 |
2003 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Homozygote mutation of M694V was detected in 37 (20.2%) and 4 (5.2%) patients in early onset FMF and adult onset FMF groups, respectively (p < 0.05).
|
19641922 |
2010 |
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 |
Two hundred sixteen children who met the clinical criteria for FMF underwent molecular genetic studies to detect the 3 most common mutations in the Israeli FMF patient population (M694V, V726A, E148Q).
|
12508410 |
2003 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The discovery of the gene responsible for FMF, Mediterranean fever gene (MEFV), and of associated mutations represents a major advance that now allows researchers to establish a strong, although nonexclusive association between one specific mutation, M694V, and the amyloid phenotype.
|
10647956 |
2000 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Both were found in compound heterozygosity with the mutation M694V in single Turkish patients with clinical syndromes characteristic for FMF.
|
11470495 |
2001 |
rs61752717
|
|
|
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 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
|
10364520 |
1999 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Study of the mutation M694V of familial Mediterranean fever in Jews.
|
11336402 |
2001 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
They also show that M694V is the most common mutation in Arab patients with FMF and seems to have an association with the development of amyloidosis and the PFMS.
|
15942916 |
2005 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Patients with FMF amyloidosis carried only M694V mutations in the FMF gene, while FMF without amyloidosis featured other mutations as well.
|
22675837 |
2012 |
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The data supported the findings in literature that FMF patients with M694V homozygote and compound heterozygote for M694V gene mutations experience a more severe clinical course.
|
19115056 |
2009 |
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 |
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 |
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 |
The M694V mutation frequency was lower, and disease severity was relatively mild in FMF children of this region.
|
24071932 |
2014 |