Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa
about
Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from IndiaPrevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.Mutations in spliceosomal proteins and retina degenerationThree gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".Retinitis pigmentosa: genes and disease mechanisms.A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT.Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesPremature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.Identification and functional characterization of a novel splicing mutation in RP gene PRPF31Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families.Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.Inhibin and premature ovarian failure.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.Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.Genetic Variants in CPA6 and PRPF31 are Associated with Variation in Response to Metformin in Individuals with Type 2 Diabetes.
P2860
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P2860
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa
description
2007 nî lūn-bûn
@nan
2007 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մարտին հրատարակված գիտական հոդված
@hy
2007年の論文
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2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutations in the gene coding f ...... dominant retinitis pigmentosa
@ast
Mutations in the gene coding f ...... dominant retinitis pigmentosa
@en
Mutations in the gene coding f ...... dominant retinitis pigmentosa
@nl
type
label
Mutations in the gene coding f ...... dominant retinitis pigmentosa
@ast
Mutations in the gene coding f ...... dominant retinitis pigmentosa
@en
Mutations in the gene coding f ...... dominant retinitis pigmentosa
@nl
prefLabel
Mutations in the gene coding f ...... dominant retinitis pigmentosa
@ast
Mutations in the gene coding f ...... dominant retinitis pigmentosa
@en
Mutations in the gene coding f ...... dominant retinitis pigmentosa
@nl
P2093
P356
P1476
Mutations in the gene coding f ...... dominant retinitis pigmentosa
@en
P2093
Alan C Bird
Andrew Webster
Naushin H Waseem
Sharon A Jenkins
Shomi S Bhattacharya
Veronika Vaclavik
P304
P356
10.1167/IOVS.06-0963
P407
P577
2007-03-01T00:00:00Z