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Pre-mRNA splicing and retinitis pigmentosa Mordes D; Luo X; Kar A; Kuo D; Xu L; Fushimi K; Yu G; Sternberg P Jr; Wu JYMol Vis 2006[Oct]; 12 (ä): 1259-71Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinal diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) genes identified, four encode ubiquitously expressed proteins involved in pre-mRNA splicing, demonstrating the important role that pre-mRNA splicing plays in the pathogenesis of retinal degeneration. This review focuses on recent progress in identifying adRP mutations in genes encoding pre-mRNA splicing factors and the potential underlying molecular mechanisms.|*RNA Precursors[MESH]|*RNA Splicing[MESH]|Animals[MESH]|Humans[MESH]|Neurodegenerative Diseases/genetics[MESH]|Retinal Degeneration/genetics[MESH]|Retinitis Pigmentosa/*genetics/pathology/physiopathology[MESH] |
