Associated Papers
The role of splicing factors in retinitis pigmentosa: links to cilia.
Maxwell DW et al.
Biochemical Society Transactions, 2021
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Nazlamova L et al.
Human Genetics, 2021
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G et al.
Experimental Eye Research, 2020
Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.
Valdés-Sánchez L et al.
Molecular Medicine (cambridge, Mass.), 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report.
Bryant L et al.
The British Journal of Ophthalmology, 2019
A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa.
Wheway G et al.
Frontiers in Genetics, 2019
A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance.
Bhatia S et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2018
Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa.
Xie D et al.
Genetic Testing and Molecular Biomarkers, 2018
A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.
Zheng Y et al.
International Journal of Ophthalmology, 2018
Mutations in spliceosomal proteins and retina degeneration.
Růžičková Š et al.
Rna Biology, 2017
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 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
A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family.
Saini S et al.
Experimental Eye Research, 2012
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
Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.
Ghazawy S et al.
The British Journal of Ophthalmology, 2007
A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP).
Wilkie SE et al.
Biochimica Et Biophysica Acta, 2006
[Novel splice-site mutation in the pre-mRNA splicing gene PRPF31 in a Chinese family with autosomal dominant retinitis pigmentosa].
Lu SS et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.
Yuan L et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005
Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.
Wang L et al.
American Journal of Medical Genetics. Part A, 2003
Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.
Deery EC et al.
Human Molecular Genetics, 2002
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