U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.
about
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophySmelling the roses and seeing the light: gene therapy for ciliopathiesAlternative splicing and retinal degenerationImprovement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndromeTherapeutic activity of modified U1 core spliceosomal particlesTargeting RNA splicing for disease therapy.RNA-based therapeutic approaches for coagulation factor deficiencies.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotidesExon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations.Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.Upregulation of functional Kv11.1a isoform expression by modified U1 small nuclear RNA.Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
P2860
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P2860
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.
description
2011 nî lūn-bûn
@nan
2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
@zh-my
2011年学术文章
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2011年學術文章
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2011年學術文章
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name
U1 snRNA-mediated gene therape ...... ceptionally mild BBS mutation.
@en
U1 snRNA-mediated gene therape ...... ceptionally mild BBS mutation.
@nl
type
label
U1 snRNA-mediated gene therape ...... ceptionally mild BBS mutation.
@en
U1 snRNA-mediated gene therape ...... ceptionally mild BBS mutation.
@nl
prefLabel
U1 snRNA-mediated gene therape ...... ceptionally mild BBS mutation.
@en
U1 snRNA-mediated gene therape ...... ceptionally mild BBS mutation.
@nl
P2093
P2860
P356
P1433
P1476
U1 snRNA-mediated gene therape ...... ceptionally mild BBS mutation.
@en
P2093
Daniel Barthelmes
Esther Glaus
Fabian Schmid
Gudrun Nürnberg
Harald Gaspar
John Neidhardt
Manfred Fliegauf
Wolfgang Berger
P2860
P304
P356
10.1002/HUMU.21509
P577
2011-07-01T00:00:00Z