Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31
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CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from IndiaNovel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese familyA complementation method for functional analysis of mammalian genesMutations in spliceosomal proteins and retina degenerationTemporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.Alternative splicing and retinal degenerationMutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa.NUFIP and the HSP90/R2TP chaperone bind the SMN complex and facilitate assembly of U4-specific proteins.Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosaPre-mRNA splicing and retinitis pigmentosaEvaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.The splicing factor Prp31 is essential for photoreceptor development in Drosophila.A phase I, open-label, single-arm, dose-escalation study of E7107, a precursor messenger ribonucleic acid (pre-mRNA) splicesome inhibitor administered intravenously on days 1 and 8 every 21 days to patients with solid tumors.A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.Variant snRNPs: New players within the spliceosome system.Identification of a disease-causing mutation in a Chinese patient with retinitis pigmentosa by targeted next-generation sequencing.
P2860
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P2860
Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31
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2002 nî lūn-bûn
@nan
2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
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2002年论文
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Disease mechanism for retiniti ...... he splicing factor gene PRPF31
@ast
Disease mechanism for retiniti ...... he splicing factor gene PRPF31
@en
Disease mechanism for retiniti ...... he splicing factor gene PRPF31
@nl
type
label
Disease mechanism for retiniti ...... he splicing factor gene PRPF31
@ast
Disease mechanism for retiniti ...... he splicing factor gene PRPF31
@en
Disease mechanism for retiniti ...... he splicing factor gene PRPF31
@nl
prefLabel
Disease mechanism for retiniti ...... he splicing factor gene PRPF31
@ast
Disease mechanism for retiniti ...... he splicing factor gene PRPF31
@en
Disease mechanism for retiniti ...... he splicing factor gene PRPF31
@nl
P2093
P356
P1476
Disease mechanism for retiniti ...... he splicing factor gene PRPF31
@en
P2093
Eranga N Vithana
Evelyne C Deery
Martin J Warren
Richard J Newbold
Shomi S Bhattacharya
Susan E Wilkie
Victoria A Gallon
P304
P356
10.1093/HMG/11.25.3209
P407
P50
P577
2002-12-01T00:00:00Z