Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells (Q34994553)

5 August 2017

title

Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells (English)

1 reference

https://api.crossref.org/works/10.1038/MT.2011.7

5 August 2017

Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells (English)

1 reference

24 November 2024

0 references

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21326217

24 November 2024

Romain Da Costa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21326217

24 November 2024

John Neidhardt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21326217

24 November 2024

Esther Glaus

1 reference

5 August 2017

Fabian Schmid

series ordinal

1 reference

5 August 2017

Wolfgang Berger

series ordinal

1 reference

5 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21326217

24 November 2024

publication date

15 February 2011

1 reference

full work available at URL

5 August 2017

http://www.cell.com/article/S1525001616318937/pdf

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21326217

https://europepmc.org/articles/PMC3098652

24 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21326217

https://europepmc.org/articles/PMC3098652?pdf=render

24 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21326217

https://doi.org/10.1038/mt.2011.7

24 November 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21326217

https://api.elsevier.com/content/article/PII:S1525001616318937?httpAccept=text/plain

24 November 2024

1 reference

https://api.crossref.org/works/10.1038/MT.2011.7

https://api.elsevier.com/content/article/PII:S1525001616318937?httpAccept=text/xml

24 November 2024

1 reference

https://api.crossref.org/works/10.1038/MT.2011.7

24 November 2024

1 reference

5 August 2017

1 reference

5 August 2017

1 reference

5 August 2017

page(s)

936-941

1 reference

The molecular basis of human retinal and vitreoretinal diseases

5 August 2017

cites work

1 reference

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8 July 2018

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Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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Splicing in action: assessing disease causing sequence changes

8 July 2018

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Extended base pair complementarity between U1 snRNA and the 5' splice site does not inhibit splicing in higher eukaryotes, but rather increases 5' splice site recognition

8 July 2018

1 reference

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RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

8 July 2018

1 reference

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Are splicing mutations the most frequent cause of hereditary disease?

8 July 2018

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How did alternative splicing evolve?

8 July 2018

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RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

8 July 2018

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8 July 2018

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X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15

8 July 2018

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Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

8 July 2018

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8 July 2018

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A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

8 July 2018

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

8 July 2018

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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

8 July 2018

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8 July 2018

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8 July 2018

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RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

8 July 2018

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8 July 2018

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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

8 July 2018

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

8 July 2018

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8 July 2018

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26 October 2018

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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

26 October 2018

1 reference

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B-cell-specific transgene expression using a self-inactivating retroviral vector with human CD19 promoter and viral post-transcriptional regulatory element

26 October 2018

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26 October 2018

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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

26 October 2018

1 reference

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26 October 2018

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Identification and characterization of a novel RPGR isoform in human retina

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098652

Mutational Screening of theRP2andRPGRGenes in Spanish Families with X-Linked Retinitis Pigmentosa

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21326217

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Establishment and culture of human skin fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21326217

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/MT.2011.7

1 reference

5 August 2017

1 reference

5 August 2017

1 reference