Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation - Bluteau, Dominique; Balduini, Alessandra; Balayn, Nathalie; Currao, Manuela; Nurden, Paquita; Deswarte, Caroline; Leverger, Guy; Noris, Patrizia; Perrotta, Silverio; Solary, Eric; Vainchenker, William; Debili, Najet; et al. (The Journal of clinical investigation, 2014)
Keywords: 5' Untranslated Regions; Adolescent; Adult; Base Sequence; Binding Sites; Biomedical research; Cell Differentiation; Cellular signal transduction; Chromosome Breakage; Chromosome Disorders - genetics; Core Binding Factor Alpha 2 Subunit - metabolism; Defects; Development and progression; Enzyme Activation; Extracellular signal-regulated kinases; Female; Gene expression; Gene Expression Regulation; Gene mutations; Gene Silencing; Genetic aspects; Human health and pathology; Humans; Infant; Intercellular Signaling Peptides and Proteins; Leukemia; Life Sciences; Male; MAP Kinase Signaling System; Megakaryocytes - cytology; Middle Aged; Molecular Sequence Data; Mutation; Nuclear Proteins - genetics; Patients; Pedigree; Proteins; Proto-Oncogene Protein c-fli-1 - metabolism; Receptors, Thrombopoietin - metabolism; Scholarships & fellowships; Signal Transduction; Thrombocytopenia; Thrombocytopenia - congenital; Thrombocytopenia - genetics; Transcription factors; Young Adult