Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. (Q41854562)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825571%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy (English)

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26 October 2019

Muntoni F

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26 October 2019

Melis MA

series ordinal

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26 October 2019

Ganau A

series ordinal

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26 October 2019

Dubowitz V

series ordinal

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26 October 2019

language of work or name

English

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publication date

1 January 1995

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American Journal of Human Genetics

26 October 2019

published in

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26 October 2019

volume

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26 October 2019

issue

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26 October 2019

page(s)

151-157

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Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.

26 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

The structural and functional diversity of dystrophin

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Upstream regions of the human cardiac actin gene that modulate its transcription in muscle cells: presence of an evolutionarily conserved repeated motif

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Duchenne muscular dystrophy gene product is not identical in muscle and brain.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Identification of a myocyte nuclear factor that binds to the muscle-specific enhancer of the mouse muscle creatine kinase gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

A new myocyte-specific enhancer-binding factor that recognizes a conserved element associated with multiple muscle-specific genes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Cross-binding of factors to functionally different promoter elements in c-fos and skeletal actin genes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Specificity of expression of the muscle and brain dystrophin gene promoters in muscle and brain cells

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Dystrophin is transcribed in brain from a distant upstream promoter.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

The myoD Gene Family: Nodal Point During Specification of the Muscle Cell Lineage

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Developmental and tissue-specific regulation of mouse dystrophin: The embryonic isoform in muscular dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Mapping of dystrophin brain promoter: A deletion of this region is compatible with normal intellect

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Positive and negative regulatory DNA elements including a CCArGG box are involved in the cell type-specific expression of the human muscle dystrophin gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Dystrophin isoforms expressed in the mouse retina

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801315

Brain-type and muscle-type promoters of the dystrophin gene differ greatly in structure

18 August 2018

1 reference

12 December 2020

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy

1 reference

12 December 2020

1 reference

12 December 2020

Transcription of the dystrophin gene in Duchenne muscular dystrophy muscle

1 reference

12 December 2020

The interaction of actin with dystrophin

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825571%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

PubMed publication ID

7825571

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825571%20AND%20SRC:MED&resulttype=core&format=json