|
Behcet Syndrome
|
|
0.020 |
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 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
The V726A mutation, although identified in FMF patients with a relatively mild phenotype, has also been detected in patients with renal amyloidosis.
|
15745878 |
2005 |
|
Familial Mediterranean Fever
|
|
0.900 |
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 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Arthritis as the sole episodic manifestation of familial Mediterranean fever.
|
15868622 |
2005 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Arthritis as the sole episodic manifestation of familial Mediterranean fever.
|
15868622 |
2005 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
|
16785446 |
2006 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
CLINVAR |
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
|
16785446 |
2006 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.
|
16378925 |
2006 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
None of the Sicilian subjects studied carried the V726A and the M694I FMF-related mutations.
|
16387839 |
2006 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
|
16785446 |
2006 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
|
16785446 |
2006 |
|
Acute myocardial infarction
|
|
0.010 |
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 |
|
Coronary heart disease
|
|
0.010 |
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 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.
|
16627024 |
2007 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
A rare cause of ascites: Familial Mediterranean fever.
|
18386244 |
2008 |
|
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 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The increased frequency of V726A gene mutation and the rarity of amyloidosis in this study suggest that Egyptian patients may have a milder form of FMF compared to other populations.
|
19777236 |
2010 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.
|
20485448 |
2010 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.
|
20485448 |
2010 |
|
Amyloidosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
The increased frequency of V726A gene mutation and the rarity of amyloidosis in this study suggest that Egyptian patients may have a milder form of FMF compared to other populations.
|
19777236 |
2010 |
|
Ankylosing spondylitis
|
|
0.020 |
GeneticVariation
|
BEFREE |
The aim of this study was to analyze the association of common MEFV variations (M694V, M680I, V726A, and E148Q) with AS in a group of Turkish patients.
|
20669279 |
2010 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice.
|
21600797 |
2011 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient.
|
21995303 |
2012 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever: new phenotypes.
|
22878273 |
2012 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever: new phenotypes.
|
22878273 |
2012 |