Here are a few scientific articles: the first two links are about retinitis pigmentosa in general, and the following ones focus on the PRPF31 gene, exploring its roles and impact on the retina.
- Facts About Retinitis Pigmentosa | National Eye Institute
- Retinitis Pigmentosa: Genes and Disease Mechanisms. Ferrari, Stefano et al. Current genomics vol. 12,4 (2011): 238-49.
- Gene of the month: PRPF31. Rose, Anna & Luo, Rong & Radia, Utsav & Bhattacharya, Shomi. (2017). Journal of Clinical Pathology. 70. 10.1136/jclinpath-2016-203971.
- Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
- AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31+/- iPSC-Derived RPE Cells
- Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells
- Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing.
- Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?
- Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations
- A spliceosomal recycling factor that reanneals U4 and U6 small nuclear ribonucleoprotein particles.
- Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
- RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di‐snRNPs in Cajal bodies
- Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa
- Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations