(Q38014906)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22650324%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Exon skipping for nonsense mutations in Duchenne muscular dystrophy: too many mutations, too few patients? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22650324%20AND%20SRC:MED&resulttype=core&format=json

Duchenne muscular dystrophy

2 February 2020

main subject

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22650324%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Yusuke Echigoya

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22650324%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Toshifumi Yokota

1

1 reference

ORCID Public Data File 2021

author name string

Hanna Kolski

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22650324%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

language of work or name

English

0 references

publication date

1 June 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22650324%20AND%20SRC:MED&resulttype=core&format=json

Expert Opinion on Biological Therapy

2 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22650324%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22650324%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22650324%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

1141-1152

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22650324%20AND%20SRC:MED&resulttype=core&format=json

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

2 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Functional improvement of dystrophic muscle by myostatin blockade.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Progress in gene therapy for Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Immune responses to AAV in canine muscle monitored by cellular assays and noninvasive imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Restoring dystrophin expression in duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

In-frame Dystrophin Following Exon 51-Skipping Improves Muscle Pathology and Function in the Exon 52–Deficient mdx Mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Systemic administration of PRO051 in Duchenne's muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Morpholino antisense oligomers: design, preparation, and properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Sustained dystrophin expression induced by peptide-conjugated morpholino oligomers in the muscles of mdx mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Vivo-Morpholinos: a non-peptide transporter delivers Morpholinos into a wide array of mouse tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Octa-guanidine morpholino restores dystrophin expression in cardiac and skeletal muscles and ameliorates pathology in dystrophic mdx mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Phosphorothioate oligonucleotides inhibit the intrinsic tenase complex by an allosteric mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Chemical treatment enhances skipping of a mutated exon in the dystrophin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

A renaissance for antisense oligonucleotide drugs in neurology: exon skipping breaks new ground

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Hybrid spectrin type repeats produced by exon-skipping in dystrophin

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Differential stabilities of alternative exon-skipped rod motifs of dystrophin

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Internal deletion compromises the stability of dystrophin

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Computational study of the human dystrophin repeats: interaction properties and molecular dynamics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Two forms of mouse syntrophin, a 58 kd dystrophin-associated protein, differ in primary structure and tissue distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Ca2+-calmodulin binding to mouse alpha1 syntrophin: syntrophin is also a Ca2+-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Alpha1-syntrophin-deficient skeletal muscle exhibits hypertrophy and aberrant formation of neuromuscular junctions during regeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

alpha1-syntrophin gene disruption results in the absence of neuronal-type nitric-oxide synthase at the sarcolemma but does not induce muscle degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

In vivo requirement of the alpha-syntrophin PDZ domain for the sarcolemmal localization of nNOS and aquaporin-4

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Alpha1-syntrophin modulates turnover of ABCA1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Transgenic mdx mice expressing dystrophin with a deletion in the actin-binding domain display a "mild Becker" phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Becker muscular dystrophy with onset after 60 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Long-term restoration of cardiac dystrophin expression in golden retriever muscular dystrophy following rAAV6-mediated exon skipping

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Antisense oligo-mediated multiple exon skipping in a dog model of duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

PTC124 targets genetic disorders caused by nonsense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

PTC124, nonsense mutations and Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Current status of pharmaceutical and genetic therapeutic approaches to treat DMD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

The heart in human dystrophinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Translational research and therapeutic perspectives in dysferlinopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Therapeutic exon skipping for dysferlinopathies?

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Allele-specific silencing of mutant huntingtin and ataxin-3 genes by targeting expanded CAG repeats in mRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Myotonic dystrophy: antisense oligonucleotide inhibition of DMPK gene expression in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.693469

10.1517/14712598.2012.693469

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22650324%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference