Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To evaluate differences between the patients with familial Mediterranean fever (FMF) with homozygous (Hom), heterozygous (Het) and compound heterozygous (cHet) MEFV mutations in terms of clinical features and severity of the disease, as well as frequency of concomitant disorders, without focusing on Exon 10 mutations.
|
31603074 |
2020 |
Familial Mediterranean Fever
|
1.000 |
Biomarker
|
disease |
BEFREE |
The causative gene of the FMF is named Mediterranean Fever gene (MEFV).
|
31352561 |
2020 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Apulian region has a consistent clustering of MEFV variants and FMF families with affected individuals in multiple consecutive generations.
|
31401792 |
2020 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The symptomatic mother of the index case and her affected maternal uncle had compound heterozygous FMF-associated MEFV mutations, p.Met680Ile and p.Arg761His.
|
31376265 |
2020 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FMF is associated with mutations in the MEFV gene encoding pyrin and is characterized by recurrent, often stress-provoked attacks of fever and serositis, but sometimes also by chronic subclinical inflammation.
|
31337526 |
2019 |
Familial Mediterranean Fever
|
1.000 |
Biomarker
|
disease |
BEFREE |
Pyrin is encoded by <i>MEFV</i>, the gene that is mutated in patients with familial Mediterranean fever (FMF).
|
31456795 |
2019 |
Familial Mediterranean Fever
|
1.000 |
Biomarker
|
disease |
BEFREE |
The gene for familial Mediterranean fever (MEFV) encodes the pyrin protein and contains a 998 bp CpG island, covering the second exon, which is differentially methylated in FMF patients compared to healthy controls.
|
28863210 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Among the genotypes tested, homozygosity to the M694V MEFV mutation was found to be associated with the most grievous phenotype in the clinical spectrum of FMF.
|
30171907 |
2019 |
Familial Mediterranean Fever
|
1.000 |
Biomarker
|
disease |
BEFREE |
Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever.
|
30284126 |
2019 |
Familial Mediterranean Fever
|
1.000 |
Biomarker
|
disease |
BEFREE |
TNF signaling promoted the expression of pyrin in response to multiple stimuli and was required for inflammasome activation in response to canonical pyrin stimuli and in myeloid cells from FMF-KI mice.
|
30457980 |
2019 |
Familial Mediterranean Fever
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results indicate that Pyrin inflammasome activation is solely controlled by Pyrin (de)phosphorylation in FMF patients while a second control mechanism restricts its activation in healthy donors/non-FMF patients.
|
31589380 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To explore the frequency of MEFV gene mutations in children with Henoch-Schönlein purpura who had no prior familial Mediterranean fever diagnosis and to evaluate the association of MEFV mutations with the clinical and laboratory features of Henoch-Schönlein purpura.
|
30826945 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever.
|
29173686 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Potential role of pyrin, the protein mutated in familial Mediterranean fever, during inflammatory cell migration.
|
30582517 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic data on the 9 most common MEFV variants were available for 45 children (88%) in the PFAPA/FMF group.
|
30361059 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A genetic study revealed a heterozygous mutation of the MEFV gene, c.442G>C (E148Q), which is typical of familial Mediterranean fever.
|
30847869 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of Familial Mediterranean Fever was confirmed by the genetic study of MEFV gene; the homozygous mutation M694 V in exon was documented.
|
31533789 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fifteen autoinflammation/immune-related genes (ADA2-CARD14-IL10RA-LPIN2-MEFV-MVK-NLRC4-NLRP12-NLRP3-NOD2-PLCG2-PSTPIP1-SLC29A3-TMEM173-TNFRSF1A) were used to screen 196 subjects from adult/pediatric clinics, each with an initial clinical suspicion of one or more sAID diagnosis with the exclusion of typical familial Mediterranean fever (FMF) patients.
|
30783801 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial Mediterranean fever (FMF) is the most common hereditary monogenic autoinflammatory disease caused by mutations in the MEFV gene.
|
30714637 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mediterranean fever (MEFV) gene mutations are associated with familial Mediterranean fever (FMF).
|
31682063 |
2019 |
Familial Mediterranean Fever
|
1.000 |
Biomarker
|
disease |
BEFREE |
In addition, demographic findings, Mediterranean fever (MEFV) gene analysis, symptoms at disease onset, time interval between the diagnoses of FMF and PFMS, co-existent diseases, and treatment responses were evaluated.
|
30293156 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An MEFV gene mutation has been identified as the cause of FMF.
|
31494649 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
He had been unsuccessfully treated with colchicine for having familial Mediterranean fever without an identifiable MEFV mutation since the age of 4-year.
|
31586650 |
2019 |
Familial Mediterranean Fever
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MEFV variants in exon 10 may affect clinical presentation of HSP in populations where FMF is common.
|
30513227 |
2019 |
Familial Mediterranean Fever
|
1.000 |
Biomarker
|
disease |
BEFREE |
Evaluation of analytical factors associated with targeted MEFV gene sequencing using long-range PCR/massively parallel sequencing of whole blood DNA for molecular diagnosis of Familial Mediterranean fever.
|
31173732 |
2019 |