Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers (Q35195438)

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scientific article published on May 1, 1992

Language	Label	Description	Also known as
English	Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers	scientific article published on May 1, 1992

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scholarly article

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Europe PubMed Central

7 August 2017

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

1 reference

Europe PubMed Central

7 August 2017

Duchenne muscular dystrophy

1 reference

based on heuristic

inferred from title

supporting evidence

1 reference

based on heuristic

inferred from title

chromosomal deletion syndrome

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1570844

10 October 2022

author name string

C. J. Klein

1

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10 October 2022

D. D. Coovert

2

1 reference

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10 October 2022

D. E. Bulman

3

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1570844

10 October 2022

P. N. Ray

4

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10 October 2022

J. R. Mendell

5

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10 October 2022

A. H. Burghes

6

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10 October 2022

language of work or name

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publication date

1 May 1992

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7 August 2017

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1570844/?tool=EBI

online access status

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10 October 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1570844/pdf/?tool=EBI

Portable Document Format

online access status

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10 October 2022

https://europepmc.org/articles/PMC1682584

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1570844

10 October 2022

https://europepmc.org/articles/PMC1682584?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1570844

10 October 2022

American Journal of Human Genetics

1 reference

Europe PubMed Central

7 August 2017

50

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Europe PubMed Central

7 August 2017

5

1 reference

Europe PubMed Central

7 August 2017

950-959

1 reference

Europe PubMed Central

7 August 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=1682584

28 July 2018

Frameshift mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

A cDNA clone from the Duchenne/Becker muscular dystrophy gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

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=1682584

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

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=1682584

28 July 2018

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

Molecular analysis of ethyl methanesulfonate-induced reversion of a chromosomally integrated mutant shuttle vector gene in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

Dystrophin is transcribed in brain from a distant upstream promoter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

28 July 2018

Clinical investigation in duchenne dystrophy: 2. Determination of the ?power? of therapeutic trials based on the natural history

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

27 September 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=1682584

27 September 2018

Dystrophin is localized to the plasma membrane of human skeletal muscle fibers by electron-microscopic cytochemical study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

27 September 2018

Germline mosaicism and Duchenne muscular dystrophy mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682584

15 November 2018

Proportion of HeLa cell genome complementary to transfer RNA and 5 s RNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1570844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1570844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/1570844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1570844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunoelectron microscopic localization of dystrophin in myofibres

1 reference

https://pubmed.ncbi.nlm.nih.gov/1570844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1570844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutation in the human dystrophin gene: identification through western blot analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1570844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1570844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructural localization of dystrophin in human muscle by using gold immunolabelling

1 reference

https://pubmed.ncbi.nlm.nih.gov/1570844

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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