OR7-006 – Autophagy as a player in inflammation in TRAPS
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چکیده
منابع مشابه
OR7-006 – Autophagy as a player in inflammation in TRAPS
Introduction Tumor Necrosis Factor Receptor (TNFR) Associated Periodic Syndrome (TRAPS) is a dominant autoinflammatory disorder caused by heterozygous mutations in TNFRSF1A, the gene encoding the TNFalpha receptor 1 (TNFR1). TNFRSF1A mutations induce aberrant localization and accumulation in aggregates of the mutant TNFR1 proteins, elevated levels of reactive oxygen species (ROS) and excessive ...
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 کاملAtg14: A Key Player in Orchestrating Autophagy
Phosphorylation of phosphatidylinositol (PtdIns) by a PtdIns 3-kinase is an essential process in autophagy. Atg14, a specific subunit of one of the PtdIns 3-kinase complexes, targets the complex to the probable site of autophagosome formation, thereby, sorting the complex to function specifically in autophagy. The N-terminal half of Atg14, containing coiled-coil domains, is required to form the...
متن کاملthe significance of conjunction as a cohesive device in teaching writing
the research questions were as follows: 1. is there any relationship between the students concious awareness of the form and implications of the conjuncations and their improvement in using appropriate conjunctions? 2. does students knowledge of the from and the implications of the conjunctions help them to produce more coherent writings. 3. does a comparison between english conjunctions and th...
15 صفحه اولOR6-006 – IL36RN alleles in skin auto-inflammation
Results We found IL36RN recessive mutations in patients with GPP (7/84) and localised pustular psoriasis (2/9 cases of Acrodermatitis Continua of Hallopeau and 3/139 cases of plamar-plantar pustulosis), but not among PV cases. Of note, we also identified several affected individuals who carried a single heterozygous mutation. In fact, we uncovered a significant enrichment of heterozygous IL36RN...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a107