title: In Brief: (mis)splicing in disease.
abstract: Splicing of pre-mRNAs is a crucial step in the gene expression pathway. Disruption of splicing has been linked to the pathogenesis of several human diseases and is particularly widespread in cancer. Recently, a number of mutations affecting genes of the core spliceosome machinery have been identified in haematological malignancies, yet the effect of such mutations on RNA splicing is unclear. A better understanding of how mis-splicing contributes to malignancies may provide diagnostic or prognostic information and new drug targets for therapeutic approaches.
authors.affiliation: Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Simona
authors.initials: S
authors.lastname: Pedrotti
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Cooper
mesh_terms: D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D015316:Genetic Therapy; D006801:Humans; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D009369:Neoplasms / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D010641:Phenotype; D012322:RNA Precursors / Q000378:metabolism*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000378:metabolism*
chemical_list: D012322:RNA Precursors; D012333:RNA, Messenger
keywords: cancer; myelodysplastic syndromes; spliceosomal mutations; splicing