|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Specifically, the data from our American series are insufficient to evaluate the hypothesis that the M694V/M694V genotype confers a more severe phenotype, or increases the risk of amyloidosis; but both our data and the recent literature (160) indicate that amyloidosis can occur in FMF patients with only 1 copy, or no copies, of the M694V mutation.
|
9715731 |
1998 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Homozygosity for the M694V mutation, predominant among North African Jews, is associated with a severe course and prognosis for FMF.
|
10224214 |
1999 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.
|
10234504 |
1999 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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
|
|
Familial Mediterranean Fever
|
|
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
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
A Turkish patient with episodic fever and thoracic pain is described in whom a homozygous M694V mutation of the MEFV gene confirmed the clinical diagnosis of familial Mediterranean fever.
|
10667038 |
2000 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Sixty-five patients clinically diagnosed as having FMF underwent molecular genetic studies using polymerase chain reaction and restriction endonuclease digestion methods to detect the presence of the 4 mutations (M694V, V726A, M680I, M694I).
|
10852276 |
2000 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
These results provide evidence that FMF patients without the M694V mutation are also at risk for the development of amyloidosis.
|
10905662 |
2000 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
|
11175300 |
2001 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Study of the mutation M694V of familial Mediterranean fever in Jews.
|
11336402 |
2001 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cranial nerve lesions and abnormal visually evoked potentials associated with the M694V mutation in familial Mediterranean fever.
|
12189462 |
2002 |
|
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 |
|
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 |
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 |
Several mutations have been identified of which the homozygous form of the M694V mutation is associated with a more severe expression of FMF.
|
12781406 |
2003 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 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 |