|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Enthesopathy in patients with familial Mediterranean fever: increased prevalence in M694 V variant.
|
23334425 |
2013 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
OMERACT score did not differ between FMF patients with and without M694V gene mutation.
|
23812619 |
2013 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
|
23742958 |
2013 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
M694V homozygosity was associated with an earlier FMF onset (median age 5.5 years, p = 0.0001) and a higher prevalence of peritonitis (p = 0.007) and pleuritis (p = 0.0007) compared to patients without an M694V mutation.
|
23137073 |
2013 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient.
|
21995303 |
2012 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Here, we report the different clinical courses of FMF in a family carrying the same M694V mutation.
|
22790142 |
2012 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients.
|
22037353 |
2012 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V.
|
22281876 |
2012 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The frequencies of three familial Mediterranean fever-related MEFV gene mutations (M694V, V726A and E148Q) were investigated in 70 SLE patients.
|
22532615 |
2012 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
M694V homozygous mutation was found most frequently in definitive FMF group than other groups (49, 9, 8.9%, respectively).
|
20217092 |
2011 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recent studies conducted in populations with a high background carrier rate of MEFV variants have reported an increased frequency of M694V among AS patients with no personal or family history of FMF.
|
21695514 |
2011 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients.
|
21290976 |
2010 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Increased prevalence of M694V in patients with ankylosing spondylitis: additional evidence for a link with familial mediterranean fever.
|
20533539 |
2010 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation.
|
20008920 |
2010 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The profile of MEFV gene mutations in this study suggests that the origin of FMF in Egypt is heterogeneous, a finding in concordance with that for other Arab populations; however, some differences were observed as M694V, the most common mutation reported in Arabs, was not detected in this study.
|
21294448 |
2010 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation.
|
20008920 |
2010 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
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 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most frequent mutation in FMF was M694V and the most frequent genotype was M694V/M694V.
|
20373849 |
2010 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
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 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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
|
|
Familial Mediterranean Fever
|
|
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
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The frequency of M694V mutations in FMF patients with sacroiliitis was 93.7%.
|
18795391 |
2009 |