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Article

PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture.

European journal of human genetics : EJHG - 1 Apr 2020

Azizzadeh Pormehr Leila, Ahmadian Shahin, Daftarian Narsis, Mousavi Seyed Ahmad, Shafiezadeh Mahshid

Abstract excerpt

PRPF31 is ubiquitously expressed splicing factor and has an essential role in the pre-mRNA splicing in all tissues. However, it is not clear how reduced expression of this general splicing factor leads to retinal restricted disease, retinitis pigmentosa (RP). In this study, we used RNA interference and RNA-sequencing to mimic the PRPF31 haploinsufficiency in human organotypic retinal cultures (HORCs). We examined...

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Identifiers

PMID: 31654038
DOI: 10.1038/s41431-019-0531-1
PMCID: PMC7080750

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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