OR10-002 - A novel TNFR1 transcript of TRAPS gene
نویسندگان
چکیده
منابع مشابه
OR10-002 - A novel TNFR1 transcript of TRAPS gene
Methods Expression of TNFRSF1A transcripts was performed by RT-PCR in a range of human cells and tissues. Exon 2 splicing and transcriptional activity were analysed in HEK293T and SW480 cells by in vitro alternative splicing and luciferase assays, respectively. We constructed haplotypes containing rs4149570, rs767455 and rs1800692 in controls (n=70), TRAPS (n=111) and TRAPS-like patients (n=450...
متن کاملOR10-004 - Circulating micrornas in TRAPS
Results We identified a 6 miRNAs signature able to discriminate TRAPS from healthy controls. Moreover, 4 miRNAs were differentially expressed between patients treated with the interleukin (IL)-1 receptor antagonist anakinra and untreated patients. Of these, miR-92a-3p expression was found to be reduced in untreated patients, while its expression levels were similar to healthy controls in sample...
متن کاملOR10-006 - Canakinumab in patients with TRAPS
Introduction TNF-receptor associated periodic syndrome (TRAPS) is a rare, dominantly inherited periodic fever syndrome due to mutations of the TNFRSF1A gene. The IL-1 receptor antagonist anakinra has been reported to be an efficacious daily treatment. Canakinumab (CAN) is a fully human monoclonal selective anti-IL-1b antibody with a T1/2 of ~4 wks. Interim clinical and PK data of CAN treatment ...
متن کاملOR10-005 - Treatment responses in TRAPS: Eurofever/ Eurotraps
Results In total there was treatment data on 113 patients with 45 different PSV of TNFRSF1A. Patients came from 14 countries and 94.5% were of European Caucasian ancestry. 16 patients had only received symptomatic treatment. Of 48 patients given steroids only with attacks 20 (42%) reported complete success (CR) in terminating acute attacks but 38 (79%) were either converted to biologic therapy ...
متن کاملOR10-001 - Altered mitochondrial ROS and metabolism in TRAPS
Introduction Mutations in TNFR1 cause the familial autosomal-dominant autoinflammatory disorder TNF receptor-associated periodic syndrome (TRAPS). Most TRAPS-associated mutations in TNFR1 disrupt normal receptor function and cause retention of the mutant protein in the ER. Cells expressing mutant TNFR1 have enhanced MAP Kinase activation at baseline and hyper-responsiveness to innate immune sti...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a186