|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
An initial diagnosis of FMF was suspected based on the genetic analysis, showing the compound heterozygous L110P/E148Q mutations in the MEFV gene that is responsible for FMF.
|
24835548 |
2014 |
|
rs3743930
|
|
|
0.800 |
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 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects for five common MEFV gene mutations (E148Q, M680I, M694V, V726A, P369S) and clinical features.
|
23973724 |
2013 |
|
rs3743930
|
|
|
0.800 |
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 |
|
rs3743930
|
|
|
0.800 |
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 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis.
|
22337722 |
2012 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
This is the first reported case of PLE with a distended right jugular vein due to CP secondary to familial Mediterranean fever associated with E148Q heterozygosity in the MEFV gene.
|
21210266 |
2011 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The role of the E148Q pyrin mutation in the FMF phenotype remains inconclusive, and some authors even view it as a disease-insignificant polymorphism.
|
21598804 |
2011 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We investigated 316 patients with a clinical diagnosis of FMF for 12 MEFV mutations including the 5 most common known mutations M694V, V726A, M694I, M680I, and E148Q by allele-specific hybridization.
|
20151816 |
2010 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We identified 1 homozygous (E148Q/E148Q), 1 compound heterozygous (M694V/E148Q) and 5 heterozygous MEFV gene mutations; none had their own and/or family history compatible with familial Mediterranean fever.
|
20437121 |
2010 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.
|
19967574 |
2010 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our data indicate that the FMF carrier rate and E148Q mutation frequency are high in the Iranian Azeri Turkish population.
|
19929404 |
2010 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We investigated a possible association between Kawasaki disease (KD), a systemic vasculitis of unknown etiology, or its coronary artery lesions (CAL) and MEFV gene variants including E148Q, the most common and mild mutation in the MEFV gene for familial Mediterranean fever or vasculitis-related disorders.
|
19026701 |
2009 |
|
rs3743930
|
|
|
0.800 |
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 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
He was later found to carry E148Q polymorphism of MEFV, the gene responsible for familial Mediterranean fever.
|
18625654 |
2008 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Two of the patients (siblings with definite FMF) were heterozygous for both E148Q and M694I, and the remaining patient (with probable FMF and no family history of the disease) was heterozygous for both P369S and R408Q.
|
18097735 |
2008 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Analysis for FMF mutations in the control group revealed that 5 (5%) individuals bore MEFV gene mutations (3 were heterozygous for the E148Q and 2 were heterozygous for the A744S).
|
16273767 |
2006 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Considering p.E148Q to be a benign polymorphism should reduce the possibility of false-positive diagnoses, while highlighting genetic heterogeneity in FMF.
|
16439437 |
2006 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever.
|
15458961 |
2005 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Because different populations may exhibit different patterns of pyrin mutations, association of the E148Q mutation with FMF should be considered in connection with origin data.
|
15717684 |
2005 |
|
rs3743930
|
|
|
0.800 |
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 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We describe 3 unrelated Japanese patients with familial Mediterranean fever (FMF) due to a compound heterozygous E148Q/M694I mutation in the MEFV gene.
|
15168590 |
2004 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In order to assess the implication of the E148Q variation in FMF, we investigated 233 patients of Sephardic Jewish origin living in France and 213 disease-free relatives of these patients.
|
12955725 |
2003 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
E148Q has reduced penetrance and thus, a proportion of the individuals genetically affected with FMF remain asymptomatic.
|
14578967 |
2003 |
|
rs3743930
|
|
|
0.800 |
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 |