Associated Papers
Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.
Wang J et al.
Acta Ophthalmologica, 2022
The role of splicing factors in retinitis pigmentosa: links to cilia.
Maxwell DW et al.
Biochemical Society Transactions, 2021
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
32098976 (PubMed )
Supplement: 41598_2020_60137_MOESM1_ESM.pdf
Variants in the PRPF8 Gene are Associated with Glaucoma.
Micheal S et al.
Molecular Neurobiology, 2018
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Van Cauwenbergh C et al.
Plos One, 2017
Novel regulatory principles of the spliceosomal Brr2 RNA helicase and links to retinal disease in humans.
Mozaffari-Jovin S et al.
Rna Biology, 2014
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
Towns KV et al.
Human Mutation, 2010
Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.
Pena V et al.
Molecular Cell, 2007
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
McKie AB et al.
Human Molecular Genetics, 2001
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