|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The genotype findings indicate that a relatively small number of genes may be involved in the clinical manifestation of HIDS, with low-penetrance TNFRSF1A variants possibly influencing the HIDS phenotype or MVK mutations contributing to TRAPS.
|
15188372 |
2004 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DNA sequence analysis revealed a heterozygous mutation in the TNFRSF1A (TNFa-receptor 1) gene (T50M) in both father and son causing tumor necrosis factor receptor-associated periodic syndrome (TRAPS).
|
15570662 |
2004 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here we report a case of TRAPS with a novel TNFRSF1A mutation, C70S, in a Japanese family.
|
14610673 |
2004 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
Biomarker
|
disease |
BEFREE |
It is unlikely that a defect in TNFRSF1A shedding per se can fully explain the clinical features that are common to TRAPS patients with different TNFRSF1A mutations.
|
15334481 |
2004 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TRAPS is the first condition for which naturally occurring mutations in a TNF receptor were found; the mutations affect the soluble TNFRSF1A gene in the 12p13 region.
|
15288852 |
2004 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DNA sequencing of exons 1-10 of the TNFRSF1A gene was performed to determine mutations that might be associated with the tumour necrosis factor receptor-associated periodic syndrome (TRAPS).
|
15280569 |
2004 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To elucidate the molecular effects of TRAPS-related mutations, we transfected HEK-293 cells to produce lines stably expressing high levels of either wild-type (WT) or single mutant recombinant forms of TNFRSF1A.
|
15312137 |
2004 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TNF-receptor associated periodic syndrome (TRAPS), on the other hand, is the most frequent autosomal dominantly inherited periodic fever syndrome due to mutations in exons 2-4 and 6 of the TNFRSF1A gene on chromosome 12p13.2.
|
15657603 |
2005 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor-associated periodic syndrome interacts with wild-type tumor necrosis factor receptor I and induces ligand-independent NF-kappaB activation.
|
16142754 |
2005 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TNF-receptor-associated periodic syndrome (TRAPS) is a hereditary fever syndrome that results from mutations in the TNF-receptor superfamily 1A gene (TNFRSF1A).
|
16030167 |
2005 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) results from point mutations in the extracellular domain of TNF receptor 1 (TNFRSF1A), but the effects of the mutations are controversial.
|
16162344 |
2005 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory disease associated with heterozygous mutations in TNF receptor 1 (TNFR1).
|
16684962 |
2006 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic evaluation of all members of her family with a TRAPS index patient disclosed the T50M mutation in TNFRSF1A.
|
16308343 |
2006 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TRAPS is caused by mutations in the gene encoding the TNF Receptor Super Family 1A (TNFRSF1A) on chromosome 12p13.
|
16447098 |
2006 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications.
|
16508982 |
2006 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To the best of our knowledge, we report the first case of compound heterozygosity for 2 TNFRSF1A gene mutations, including a novel one that causes a severe form of TRAPS that responds to anti-inflammatory treatment.
|
16401480 |
2006 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) has been associated with several mutations in the TNF receptor super family 1A (TNFRSF1A), including most cysteine substitutions.
|
16569687 |
2006 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Based on the clinical features and the TNFRSF1A mutation, both siblings were given a diagnosis of TRAPS.
|
17075277 |
2006 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autoinflammatory disorder characterized by periodic attacks of fever and inflammation, due to mutations in the gene coding for the TNF type I receptor (TNFRSF1A).
|
16420550 |
2006 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cytokine concentrations were measured in sequential plasma samples obtained from eight patients with a C33Y mutation in TNFRSF1A and diagnosed with TRAPS, using cytokine bead array.
|
16287931 |
2006 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To explore tumor necrosis factor (TNF)-induced apoptosis in neutrophils from patients with TNF receptor-associated periodic syndrome (TRAPS) and to correlate the results with the different kinds of TNFRSF1A mutations.
|
16508982 |
2006 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The tumor-necrosis-factor-associated periodic syndrome, the brain, and tumor-necrosis-factor-alpha antagonists.
|
17360963 |
2007 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
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 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
Biomarker
|
disease |
BEFREE |
In the present review we discuss new findings describing aberrant trafficking and function of TNFR1 harbouring TRAPS mutations, challenging the hypothesis that TRAPS pathology is driven by defective receptor shedding, and we suggest that TNFR1 might acquire novel functions in the endoplasmic reticulum, distinct from its role as a cell surface receptor.
|
17666110 |
2007 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Exploitation of the differential binding properties of these mAb indicated that mutant (as distinct from WT) TNFRSF1A showed abnormal intracellular retention in the neutrophils of TRAPS patients with the C33Y mutation, with little if any expression of mutant TNFRSF1A on the cell surface or as soluble receptor in plasma.
|
17665435 |
2007 |