Associated Papers
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.
Chang L et al.
European Journal of Human Genetics : Ejhg, 2026
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
Modeling Retinitis Pigmentosa with Patient-Derived iPSCs.
Leong YC et al.
Advances in Experimental Medicine and Biology, 2023
Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.
Fuster-García C et al.
Genes, 2020
Patient-derived induced pluripotent stem cells for modelling genetic retinal dystrophies.
Foltz LP et al.
Progress in Retinal and Eye Research, 2019
Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective.
Dalvi S et al.
Advances in Experimental Medicine and Biology, 2019
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion.
Reiner J et al.
Npj Genomic Medicine, 2018
Mutations in spliceosomal proteins and retina degeneration.
Růžičková Š et al.
Rna Biology, 2017
Targeted RP9 ablation and mutagenesis in mouse photoreceptor cells by CRISPR-Cas9.
Lv JN et al.
Scientific Reports, 2017
Using Stem Cells to Model Diseases of the Outer Retina.
Yvon C et al.
Computational and Structural Biotechnology Journal, 2015
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
Modeling retinal degeneration using patient-specific induced pluripotent stem cells.
Jin ZB et al.
Plos One, 2011
Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex.
Maita H et al.
Experimental Cell Research, 2005
PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor.
Maita H et al.
Experimental Cell Research, 2004
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.
Keen TJ et al.
European Journal of Human Genetics : Ejhg, 2002
Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.
Srikanth P et al.
Journal of Neurogenetics, 0