|
rs4149584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To report a childhood case of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) carrying the R92Q variant with a vision-threatening bilateral panuveitis.
|
29256170 |
2019 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Efficacy of anakinra in an adult patient with recurrent pericarditis and cardiac tamponade as initial manifestations of tumor necrosis factor receptor-associated periodic syndrome due to the R92Q TNFRSF1A variant.
|
27990755 |
2017 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Clinical observations have identified a group of MS patients carrying the R92Q mutation who have additional TRAPS</span> symptoms.
|
22059991 |
2011 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We describe a case of a 58-year-old patient with TRAPS caused by the low-penetrance R92Q mutation in TNFRSF1A gene.
|
21869706 |
2011 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The frequency of typical TRAPS-related clinical manifestations was significantly lower and the impact of the disease on HRQOL was significantly reduced in patients with the R92Q mutation compared with TRAPS patients carrying structural mutations of TNFRSF1A.
|
21225694 |
2011 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Patients with the autoinflammatory disease Tumour Necrosis Factor receptor-associated periodic syndrome (TRAPS) who suffer from demyelinating disease have been described, and one of the milder TRAPS mutations (R92Q in the TNFRSF1A gene) has been suggested as a risk factor for multiple sclerosis (MS).
|
21565411 |
2011 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To define the frequency of the R92Q tumor necrosis factor receptor-associated periodic syndrome (TRAPS) mutation in patients with familial Mediterranean fever (FMF) and to study the role of this mutation in FMF.
|
20506103 |
2010 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our report expands the spectrum of TNFRSF1A mutations associated with TRAPS, adding further evidence for possible additive effects of a low-penetration R92Q and cysteine residue mutations, and confirms etanercept as an efficacious treatment alternative.
|
18408954 |
2008 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Six of 25 adult MS patients (24%) with symptoms suggestive of TRAPS were found to carry the identical arginine-to-glutamine substitution at amino acid position 92 (R92Q or p.Arg121Gln) encoded by exon 4 of the TNFRSF1A gene.
|
17665448 |
2007 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The R92Q mutation does not appear to be significantly associated with TRAPS.
|
16508982 |
2006 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family.
|
14610673 |
2004 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
|
13130484 |
2003 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
|
11443543 |
2001 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.
|
10902757 |
2000 |
|
rs4149584
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
|
10199409 |
1999 |
|
rs4149584
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
|
rs4149584
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
|
rs4149584
|
|
T |
0.900 |
GeneticVariation |
CLINVAR |
|
|
|