A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping (Q33523810)

27 July 2017

title

A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping (English)

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Duchenne muscular dystrophy

27 July 2017

main subject

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Virginia Arechavala-Gomeza

inferred from title

author

object named as

Virginia Arechavala-Gomeza

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Francesco Muntoni

object named as

Francesco Muntoni

1 reference

27 July 2017

Gemma L Walmsley

1 reference

27 July 2017

Marta Fernandez-Fuente

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27 July 2017

Margaret M Burke

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27 July 2017

Nicole Nagel

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27 July 2017

Angela Holder

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27 July 2017

Rachael Stanley

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27 July 2017

Kate Chandler

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27 July 2017

Stanley L Marks

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27 July 2017

G Diane Shelton

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27 July 2017

Richard J Piercy

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27 July 2017

language of work or name

English

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publication date

13 January 2010

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27 July 2017

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27 July 2017

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27 July 2017

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27 July 2017

page(s)

e8647

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Creative Commons Attribution 4.0 International

27 July 2017

start time

13 January 2010

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April 2022 Public Data File from Crossref

copyrighted

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

PTEN contributes to profound PI3K/Akt signaling pathway deregulation in dystrophin-deficient dog muscle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

The value of mammalian models for duchenne muscular dystrophy in developing therapeutic strategies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Cardiac involvement in Beagle-based canine X-linked muscular dystrophy in Japan (CXMDJ): electrocardiographic, echocardiographic, and morphologic studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Challenges and opportunities in dystrophin-deficient cardiomyopathy gene therapy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Molecular mechanisms of muscular dystrophies: old and new players

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Canine and feline models of human inherited muscle diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Inheritance of occipital bone hypoplasia (Chiari type I malformation) in Cavalier King Charles Spaniels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Newly identified neuromuscular disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Advances in Duchenne muscular dystrophy gene therapy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Molecular analysis of a spontaneous dystrophin 'knockout' dog.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Alternative dystrophin gene transcripts in golden retriever muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

The structural and functional diversity of dystrophin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Development of Duchenne-type cardiomyopathy. Morphologic studies in a canine model.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Dystrophic phenotype of canine X-linked muscular dystrophy is mitigated by adenovirus-mediated utrophin gene transfer.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Differential expression of dystrophin isoforms in strains of mdx mice with different mutations

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Exon–Intron Organization of the Human Dystrophin Gene

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2800183

Major clinical and histopathological characteristics of canine X-linked muscular dystrophy in Japan, CXMDJ

31 October 2018

1 reference

12 December 2020

Enigmatic conflict of clinical and molecular diagnosis in Duchenne/Becker muscular dystrophy

1 reference

12 December 2020

Changes of skeletal muscle in young dystrophin-deficient cats: a morphological and morphometric study

1 reference

12 December 2020

Expansion of revertant fibers in dystrophic mdx muscles reflects activity of muscle precursor cells and serves as an index of muscle regeneration

1 reference

12 December 2020

Ringo, a Golden Retriever Muscular Dystrophy (GRMD) dog with absent dystrophin but normal strength

1 reference

12 December 2020

Canine X-linked muscular dystrophy in Japan (CXMDJ)

1 reference

12 December 2020

The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs

1 reference

12 December 2020

An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy

1 reference

12 December 2020

Dystrophin deficiency causes lethal muscle hypertrophy in cats

1 reference

12 December 2020

Localization and quantitation of the chromosome 6-encoded dystrophin-related protein in normal and pathological human muscle

1 reference

12 December 2020

Two hot spots of recombination in the DMD gene correlate with the deletion prone regions

1 reference

12 December 2020

Deletion of the dystrophin muscle promoter in feline muscular dystrophy

1 reference

12 December 2020

Dystrophin-positive fibers in Duchenne dystrophy: origin and correlation to clinical course

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0008647

Identifiers

DOI

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27 July 2017

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27 July 2017

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