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PRPF31 gene

Known as: PRP31, PRPF31, pre-mRNA processing factor 31 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing.
Purpose The purpose of this study was to investigate the disease-causing mutations for retinitis pigmentosa (RP) patients and… 
2015
2015
NUFIP and the HSP 90 / R 2 TP chaperone bind the SMN complex and facilitate assembly of U 4-specific proteins
The Sm proteins are loaded on snRNAs by the SMN complex, but how snRNP-specific proteins are assembled remains poorly… 
2014
2014
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.
PURPOSE Mutations at some retinitis pigmentosa (RP) loci are associated with variable penetrance and expressivity, exacerbating… 
2013
2013
A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT
Mutations in PRPF31 have been implicated in retinitis pigmentosa, a blinding disease caused by degeneration of rod photoreceptors… 
2009
2009
Eye on RNA unwinding
  • D. Brow
  • Nature Structural &Molecular Biology
  • 2009
  • Corpus ID: 33969217
Biochemical studies on the spliceosomal helicase Brr2 reveal that it is activated by Prp8, the master regulator of the splicing… 
2008
2008
Prpf31 Knock-In Mouse as a Model of Retinitis Pigmentosa 11
2007
2007
Gene symbol: PRPF31.
2007
2007
Mutant Alleles of PRPF31 Linked to Retinitis Pigmentosa and Containing Premature Stop Codons Are Subject to Nonsense-Mediated Decay (NMD)
2006
2006
Clinical Characterization of RP11 in Five Families With Identified PRPF31 Mutations
2003
2003
Novel deletion in the pre‐mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family
We report the identification of a novel 12 bp deletion of the pre‐mRNA splicing gene PRPF31 in a large Chinese family with… 
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