Associated Papers
Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing.
Banik P et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.
Yang C et al.
Frontiers in Cell and Developmental Biology, 2021
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G et al.
Experimental Eye Research, 2020
Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa.
Xie D et al.
Genetic Testing and Molecular Biomarkers, 2018
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
Martin-Merida I et al.
Investigative Ophthalmology & Visual Science, 2017
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
Rose AM et al.
Scientific Reports, 2016
26781568 (PubMed )
Supplement: srep19450-s1.pdf
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
de Sousa Dias M et al.
Molecular Vision, 2013
A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.
Lu F et al.
Plos One, 2013
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
Audo I et al.
Bmc Medical Genetics, 2010
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
Rio Frio T et al.
The Journal of Clinical Investigation, 2008
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Martínez-Gimeno M et al.
Investigative Ophthalmology & Visual Science, 2003
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
Vithana EN et al.
Molecular Cell, 2001
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