Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond
Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15–20% of autosomal dominant RP cases.
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Mar 22, 2020
Approaches to Characterize novel pathogenic missense Variants in PRPF31
RP, classified as a rare disease, is the most common cause of inherited blindness worldwide, affecting 1:3500, but extremely heterogeneous.
May 16, 2017
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
Results extended the mutation spectrum of known RP genes in Han Chinese, making a contribution to RP gene diagnosis and the pathogenetic . .
Nov 25, 2016
Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa
Zilin Zhong , Min Yan , Wan Sun , Zehua Wu , Liyun Han , Zheng Zhou , Fang Zheng , Jianjun Chen | Scientific Reports | 6 | 37840 | 25...
Jul 30, 2011
Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa
RP mutations have also been identified in a group of housekeeping genes that are involved in pre-mRNA splicing and represent . . .
Mar 9, 2007
Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa
Identification of RNA transcripts associated with PRPF31-containing splicing complexes using an immunoprecipitation-coupled microarray . . .
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