Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype
about
Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese familyGenomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosaA linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneityRP11 is the second most common locus for dominant retinitis pigmentosa.Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.Pre-mRNA splicing and retinitis pigmentosaGenetic modifiers of retinal degeneration in the rd3 mouse.Evaluation 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.A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetranceAutosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.
P2860
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P2860
Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype
description
1996 nî lūn-bûn
@nan
1996 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Evidence for a major retinitis ...... bimodal expressivity phenotype
@ast
Evidence for a major retinitis ...... bimodal expressivity phenotype
@en
Evidence for a major retinitis ...... bimodal expressivity phenotype
@nl
type
label
Evidence for a major retinitis ...... bimodal expressivity phenotype
@ast
Evidence for a major retinitis ...... bimodal expressivity phenotype
@en
Evidence for a major retinitis ...... bimodal expressivity phenotype
@nl
prefLabel
Evidence for a major retinitis ...... bimodal expressivity phenotype
@ast
Evidence for a major retinitis ...... bimodal expressivity phenotype
@en
Evidence for a major retinitis ...... bimodal expressivity phenotype
@nl
P2093
P2860
P1476
Evidence for a major retinitis ...... bimodal expressivity phenotype
@en
P2093
C F Inglehearn
E Tarttelin
M Al-Maghtheh
S Bhattacharya
P2860
P304
P407
P577
1996-10-01T00:00:00Z