|
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
|
|
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
|
|
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 |
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 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 |
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
|
|
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 |
The frequency of M694V mutations in FMF patients with sacroiliitis was 93.7%.
|
18795391 |
2009 |
|
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 |
To investigate MEFV mutations among patients with familial Mediterranean fever (FMF), their relatives, and healthy controls in the Black Sea region of Turkey; to compare 3 different MEFV mutation analysis methods; to evaluate the role of MEFV mutations in the diagnosis of FMF; and to investigate the role of M694V in the development of amyloidosis.
|
18061974 |
2008 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
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 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
To evaluate whether inflammatory alleles of pyrin, the gene responsible for familial Mediterranean fever (FMF) may play an opposite role in CHD and in longevity, we examined three FMF-associated mutations, M694V (A2080G), M694I (G2082A), and V726A (T2177C), encoded by the FMF gene (MEFV) in 121 patients affected by acute myocardial infarction (AMI), in 68 centenarians, and in 196 age-matched controls from Sicily.
|
16387839 |
2006 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The homozygosity of M694V mutation in the MEFV gene is associated with arthritis in FMF patients.
|
14727057 |
2005 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
MEFV mutations are found to be increased both in FMF and non-FMF associated secondary amyloidosis in our study; however, no clear association between M694V and amyloidosis is observed, except in the non-FMF group.
|
15122067 |
2004 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The frequencies of three FMF-related MEFV mutations (M694V, M680I and V726A) were investigated in BD patients (n = 57) by molecular genetic studies using a polymerase chain reaction with the ARMS method.
|
14727457 |
2004 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Pulmonary manifestations during FMF attacks are significantly more common in the Jewish population bearing the M694V mutation.
|
12746942 |
2003 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation.
|
12563686 |
2003 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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 |