Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions
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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
Retinitis pigmentosa–associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells
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DOI: 10.26508/lsa.202201855
Abstract: This study shows that Prpf8 mutations associated with human retinal degeneration in mice alter circRNA expression in cerebellar granule cells and induce their apoptosis. A subset of patients with retinitis pigmentosa (RP) carry mutations in… read more here.
Keywords: degeneration; cerebellar granule; retinitis pigmentosa; prpf8 ... See more keywords
The role of splicing factor PRPF8 in breast cancer
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DOI: 10.3233/thc-thc228028
Abstract: BACKGROUND: Alternative splicing is a mechanism to produce different proteins with diverse functions from one gene. Many splicing factors play an important role in cancer progression. PRPF8 is a core protein component of the spliceosome… read more here.
Keywords: role; prpf8; expression; breast cancer ... See more keywords