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Analysis of ALK2 interactions in U2O Scells To characterize interactions involving ALK2 in U2OS cells, transient transfection was used to express wild type or R206H variants of ALK2 Transiently expressing U2OS were either used unstimulated, or were stimulated with BMP4 Datasets from unstimulated and BMP4 stimulated cells were compared to identify changes in the protein…
Investigation of ALK2 interactions in Hek293 cells The following BMP4 signal cascade components were chosen for investigation: ALK2 wild type receptor ALK2 mutated receptors: R206H (causes FOP (Fibrodysplasia ossificans progressiva)) Q207D (constitutive active) K235R (dominant negative) ALK6 wild type receptor ALK6 mutated receptor (I200K): causes brachydactyl (shortness of the fingers and toes) BMPRII: type II…
Introduction to Fibrodysplasia ossificans progressiva (FOP, Münchmeyer syndrome) Fibrodysplasia ossificans progressiva (FOP, Münchmeyer syndrome) First mentioned in England around 1740 Orphan disease, approx. one patient per 2 million individuals Approx. 600 cases are documented Autosomal dominant Average life span: 45 years Early indicator: deformed big toes Progressive incidents of inflammation, followed by differentiation of inflamed…