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Jun 30, 2022
CLINICAL TRIAL | Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
Natural history through temporal systemic evaluation of subjects identified with PRPF31 mutation-associated retinal dystrophy.
Jul 27, 2021
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.
Jul 5, 2020
Biogen boosts gene therapy strategy with Harvard pact focused on inherited eye disease
Mutations in PRPF31 cause many more cases of RP than do mutations in RPE65, the gene targeted by Spark Tx Luxturna, Harvard researchers say.
Mar 21, 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.
Apr 5, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
Study shows a retinal dystrophy-related phenotype spectrum and its genetic etiology; highlights the complexity of spliceosomal gene network.
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 29, 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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