OR13-005 – Investigation of clinical and laboratory significance of TNFRSF1A intron by reverse-phase protein microarray
نویسندگان
چکیده
Methods Clinical history was documented along with clinical response to prednisolone, anakinra and etanercept. Intracellular signaling pathways that govern inflammation associated with TNFRSF1A signaling pathways were examined in peripheral blood mononuclear cells (PBMC) using reverse-phase protein microarray. Profiles were compared between the subject with intronic change, C33Y TRAPS subjects and matched healthy control.
منابع مشابه
The intracellular signalling pathway signature (the signalome) in PBMCs in the presence of a common TRAPS-associated genetic variant, TNFRSF1A p.(Arg121Gln) (legacy p.R92Q) is distinct from normal PBMCs and from other pathogenic variants
Question Like other disorders with a strong genetic association, a growing sequence dataset from various autoinflammatory syndrome patients continues to identify many variants of uncertain significance (VUS), i.e. missense and intronic variants or small insertions/deletions, for which the impact on protein function and pathways, and therefore the clinical significance, is unknown. Since it is u...
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2013