Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.
Sign Up to like & getrecommendations! Published in 2017 at "Stem cell research"
DOI: 10.1016/j.scr.2017.08.003
Abstract: A human iPSC line was generated from fibroblasts of a patient affected with autosomal dominant Retinitis Pigmentosa (RP) carrying the mutation p.Gly56Arg in the NR2E3 gene. The transgene-free iPSCs were generated with the human OSKM… read more here.
Keywords: retinitis pigmentosa; nr2e3 gene; stem cell; autosomal dominant ... See more keywords
Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1393825
Abstract: ABSTRACT Purpose: To expand the genotype/phenotype correlations in patients with autosomal dominant retinitis pigmentosa (adRP) harboring PRPF8 variants. Materials and Methods: Two patients, a father and his daughter, harboring a novel p.PRPF8-Glu2331* variant, underwent ophthalmic… read more here.
Keywords: prpf8; clinical phenotypes; autosomal dominant; dominant retinitis ... See more keywords
Antisense oligonucleotide therapy for proline-23-histidine autosomal dominant retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2023 at "Current Opinion in Ophthalmology"
DOI: 10.1097/icu.0000000000000947
Abstract: Purpose of review To discuss antisense oligonucleotide (ASON) therapy for autosomal dominant retinitis pigmentosa (adRP) caused by the proline-23-histidine (P23H) mutation in the rhodopsin gene. Recent findings Viral and nonviral therapies to treat adRP are… read more here.
Keywords: antisense oligonucleotide; retinitis pigmentosa; therapy; proline histidine ... See more keywords
Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Investigation"
DOI: 10.2139/ssrn.3155753
Abstract: Mutations in pre-mRNA processing factors (PRPFs) cause 40% of autosomal dominant retinitis pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed PRPFs cause retinal disease. To understand the molecular basis of this phenotype,… read more here.
Keywords: retinitis pigmentosa; autosomal dominant; impaired alternative; dominant retinitis ... See more keywords