Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping (Q81499314)

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scientific article published on 01 January 2009

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English	Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping	scientific article published on 01 January 2009

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18570328%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping (English)

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Europe PubMed Central

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9 January 2020

2

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9 January 2020

author name string

Heidi R Madden

1

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9 January 2020

Mark R Davis

3

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9 January 2020

Steve D Wilton

4

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9 January 2020

publication date

1 January 2009

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9 January 2020

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9 January 2020

30

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9 January 2020

1

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9 January 2020

22-28

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9 January 2020

Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20806

7 January 2021

based on heuristic

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Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons

1 reference

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7 January 2021

based on heuristic

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Antisense oligonucleotide induced exon skipping and the dystrophin gene transcript: cocktails and chemistries

1 reference

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Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping

1 reference

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7 January 2021

based on heuristic

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Function and genetics of dystrophin and dystrophin-related proteins in muscle

1 reference

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7 January 2021

based on heuristic

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An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype

1 reference

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7 January 2021

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ESEfinder: A web resource to identify exonic splicing enhancers

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Molecular, cellular, and pharmacological therapies for Duchenne/Becker muscular dystrophies.

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A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

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Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

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7 January 2021

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Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

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Becker muscular dystrophy with onset after 60 years.

1 reference

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7 January 2021

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A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

1 reference

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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

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7 January 2021

based on heuristic

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The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1 reference

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7 January 2021

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Improved antisense oligonucleotide induced exon skipping in the mdx mouse model of muscular dystrophy

1 reference

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7 January 2021

based on heuristic

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Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD.

1 reference

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Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity

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7 January 2021

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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

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Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene

1 reference

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Dystrophin and mutations: one gene, several proteins, multiple phenotypes

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128th ENMC International Workshop on 'Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy' 22-24 October 2004, Naarden, The Netherlands

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Primary mouse myoblast purification, characterization, and transplantation for cell-mediated gene therapy

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Muscular dystrophies and the dystrophin-glycoprotein complex

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A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion

1 reference

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7 January 2021

based on heuristic

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Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript.

1 reference

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7 January 2021

based on heuristic

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Potential of oligonucleotide-mediated exon-skipping therapy for Duchenne muscular dystrophy.

1 reference

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7 January 2021

based on heuristic

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Identifiers

10.1002/HUMU.20806

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18570328%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18570328%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

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