(Q36326993)

English

Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

author name string

Q L Lu

1

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

G E Morris

2

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

S D Wilton

3

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

T Ly

4

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

O V Artem'yeva

5

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

P Strong

6

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

T A Partridge

7

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

language of work or name

0 references

publication date

1 March 2000

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Journal of Cell Biology

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

148

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

5

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

985-996

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Patterns of repair of dystrophic mouse muscle: studies on isolated fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Myonuclear domains in muscle adaptation and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Expression of full-length utrophin prevents muscular dystrophy in mdx mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Genotype/phenotype correlations in Duchenne/Becker dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Specificity and VH sequence of two monoclonal antibodies against the N-terminus of dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

X chromosome-linked muscular dystrophy (mdx) in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

The rat alpha-tropomyosin gene generates a minimum of six different mRNAs coding for striated, smooth, and nonmuscle isoforms by alternative splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Myosin light-chain 1 and 3 gene has two structurally distinct and differentially regulated promoters evolving at different rates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Alternative splicing in the control of gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Rapid mapping by transposon mutagenesis of epitopes on the muscular dystrophy protein, dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

30 September 2017

Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

29 June 2018

A new blocking method for application of murine monoclonal antibody to mouse tissue sections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

29 June 2018

A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

29 June 2018

Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

29 June 2018

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

29 June 2018

Mutations in a novel gene, myoblast city, provide evidence in support of the founder cell hypothesis for Drosophila muscle development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

29 June 2018

Intron sequences involved in lariat formation during pre-mRNA splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

29 June 2018

Developmentally induced, muscle-specific trans factors control the differential splicing of alternative and constitutive troponin T exons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

29 June 2018

Somatic reversion/suppression of the mouse mdx phenotype in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

29 June 2018

Specificity of dystrophin analysis improved with monoclonal antibodies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

29 June 2018

Evolutionary conservation of the dystrophin central rod domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

29 June 2018

Myogenesis: a view from Drosophila.

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

An explanation for the constitutive exon 9 cassette splicing of the DMD gene

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2174546

22 September 2018

Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Aging normal and dystrophic mouse muscle: analysis of myogenicity in cultures of living single fibers

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Direct retroviral-mediated transfer of a dystrophin minigene into mdx mouse muscle in vivo

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Computer assisted signal co-localization for simultaneous detection of antigen by immunohistochemistry and DNA by non-isotopic in situ hybridization

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Monoclonal antibody evidence for structural similarities between the central rod regions of actinin and dystrophin

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Application of Y chromosomal repetitive sequences to sexing mouse embryos

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

The molecular basis of muscular dystrophy in the mdx mouse: a point mutation

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

PCR and immunocytochemical analyses of dystrophin-positive fibers in Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Dystrophin gene transcripts skipping the mdx mutation

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1083%2FJCB.148.5.985

21 January 2018

Bandstab: a PCR-based alternative to cloning PCR products

1 reference

https://pubmed.ncbi.nlm.nih.gov/10704448

12 December 2020

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10.1083/JCB.148.5.985

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

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