(Q45986854)

18 December 2017

title

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. (English)

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18 December 2017

author

Marius Ader

4

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18 December 2017

Franco Pagani

6

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18 December 2017

author name string

Gaby Tanner

1

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18 December 2017

Esther Glaus

2

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18 December 2017

Daniel Barthelmes

3

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18 December 2017

Johannes Fleischhauer

5

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18 December 2017

Wolfgang Berger

7

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18 December 2017

John Neidhardt

8

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18 December 2017

publication date

1 February 2009

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18 December 2017

published in

Human Mutation

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18 December 2017

volume

30

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18 December 2017

issue

2

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18 December 2017

page(s)

255-263

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18 December 2017

Effect of gene therapy on visual function in Leber's congenital amaurosis

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Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four

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7 January 2021

Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals

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Influence of RNA secondary structure on the pre-mRNA splicing process

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Isolation of genes from complex sources of mammalian genomic DNA using exon amplification.

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7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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7 January 2021

Rhodopsin C terminus, the site of mutations causing retinal disease, regulates trafficking by binding to ADP-ribosylation factor 4 (ARF4).

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7 January 2021

Genomic splice-site analysis reveals frequent alternative splicing close to the dominant splice site.

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7 January 2021

On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention

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7 January 2021

Pre-mRNA splicing and human disease

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7 January 2021

Alternative splicing: therapeutic target and tool.

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Cross-sectional study of visual acuity and electroretinogram in two types of dominant drusen

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7 January 2021

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7 January 2021

Suppression of the 5' splice site mutation in the Nagase analbuminemic rat with mutated U1snRNA.

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7 January 2021

Light in retinitis pigmentosa

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7 January 2021

Toward a gene therapy for dominant disease: validation of an RNA interference-based mutation-independent approach

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7 January 2021

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

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7 January 2021

AAV-mediated delivery of ciliary neurotrophic factor prolongs photoreceptor survival in the rhodopsin knockout mouse

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7 January 2021

Rhodopsin signaling and organization in heterozygote rhodopsin knockout mice

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7 January 2021

Are splicing mutations the most frequent cause of hereditary disease?

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7 January 2021

Safety and efficacy of gene transfer for Leber's congenital amaurosis

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7 January 2021

Electroporation and RNA interference in the rodent retina in vivo and in vitro

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7 January 2021

Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy

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7 January 2021

Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.

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7 January 2021

The splicing machinery is a genetic modifier of disease severity

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7 January 2021

A new type of mutation causes a splicing defect in ATM.

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7 January 2021

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

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7 January 2021

The U1 snRNP-associated factor Luc7p affects 5' splice site selection in yeast and human

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

Determinants of the inherent strength of human 5' splice sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

Use of an exon-trapping vector for the evaluation of splice-site mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa

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7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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7 January 2021

Silencing gene therapy for mutant membrane, secretory, and lipid proteins in retinitis pigmentosa (RP).

1 reference

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7 January 2021

Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms

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https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

Defects in pre-mRNA processing as causes of and predisposition to diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

Splicing in disease: disruption of the splicing code and the decoding machinery

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20861

7 January 2021

Identifiers

DOI

10.1002/HUMU.20861

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18 December 2017

PubMed ID

18837008

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18 December 2017