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Article

Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.

The American journal of pathology - 1 Oct 2014

Farkas Michael H, Lew Deborah S, Sousa Maria E, Bujakowska Kinga, Chatagnon Jonathan, Bhattacharya Shomi S, Pierce Eric A, Nandrot Emeline F

Abstract excerpt

Mutations in the ubiquitously expressed pre-mRNA processing factors 3, 8, and 31 (PRPF3, PRPF8, and PRPF31) cause nonsyndromic dominant retinitis pigmentosa in humans, an inherited retinal degeneration. It is unclear what mechanisms, or which cell types of the retina, are affected. Transgenic mice with the human mutations in these genes display late-onset morphological changes in the retinal pigment epithelium...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25111227
DOI: 10.1016/j.ajpath.2014.06.026
PMCID: PMC4188860

Genes

RPE
PRPF31
PRPF3
PRPF8

Variants

Provenance

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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Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.PMID 25111227Read ↗

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