Associated Papers
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
A New Variant in the PRPF6 Gene Leading to Retinitis Pigmentosa: A Case Report.
Ruiz-Justiz AJ et al.
Cureus, 2023
Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation.
Liang Y et al.
International Journal of Molecular Sciences, 2022
Emerging roles of spliceosome in cancer and immunity.
Yang H et al.
Protein & Cell, 2022
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A et al.
Indian Journal of Ophthalmology, 2022
Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations.
Nazlamova L et al.
Frontiers in Genetics, 2022
The role of splicing factors in retinitis pigmentosa: links to cilia.
Maxwell DW et al.
Biochemical Society Transactions, 2021
The Role of the U5 snRNP in Genetic Disorders and Cancer.
Wood KA et al.
Frontiers in Genetics, 2021
Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.
Yang C et al.
Frontiers in Cell and Developmental Biology, 2021
Mutations in spliceosomal proteins and retina degeneration.
Růžičková Š et al.
Rna Biology, 2017
[Pre-mRNA splicing: when the spliceosome loses ground].
Dujardin G et al.
Medecine Sciences : M/s, 2016
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.
Tanackovic G et al.
American Journal of Human Genetics, 2011
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