Article
Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.
PloS one - 19 Jan 2011
Cao Huibi, Wu Jing, Lam Simon, Duan Rongqi, Newnham Catherine, Molday Robert S, Graziotto John J, Pierce Eric A, Hu Jim
Abstract excerpt
BACKGROUND: Genetic mutations in several ubiquitously expressed RNA splicing genes such as PRPF3, PRP31 and PRPC8, have been found to cause retina-specific diseases in humans. To understand this intriguing phenomenon, most studies have been focused on testing two major hypotheses. One hypothesis assumes that these mutations interrupt retina-specific interactions that are important for RNA splicing, implying that...
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