|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
FMF-knockin (FMF-KI) mice that express chimeric pyrin protein with FMF mutation (MefvV726A/V726A) exhibit an autoinflammatory disorder mediated by autoactivation of the pyrin inflammasome.
|
30457980 |
2019 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our data suggest that M694V/V726A pyrin inflammasome mutations leading to FMF disease may contribute to gender-specific differences in microbial community structure in FMF patients.
|
29997616 |
2018 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
In contrast, patients having E148Q or V726A mutant allele showed fewer clinical FMF symptoms.
|
28483595 |
2017 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
A FMF-knock-in mouse strain that expresses chimeric pyrin protein with a V726A mutation (Mefv<sup>V726A/V726A</sup>) was generated to model human FMF.
|
27998728 |
2017 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
CLINVAR |
Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.
|
27659338 |
2016 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
CLINVAR |
Evidence of digenic inheritance in autoinflammation-associated genes.
|
27994174 |
2016 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
CLINVAR |
Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population.
|
26690517 |
2015 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
|
25628446 |
2015 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
CLINVAR |
Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.
|
25393764 |
2015 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients.
|
24071932 |
2014 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
|
23742958 |
2013 |
|
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 |
|
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 |
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 |
|
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 |
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 |
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 |
|
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 |