(Q48046904)

8 February 2018

title

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene (English)

1 reference

8 February 2018

author name string

Moxley RT 3rd

5

1 reference

8 February 2018

C. A. Thornton

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9241283

9 November 2024

J. P. Wymer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9241283

9 November 2024

Z. Simmons

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9241283

9 November 2024

C. McClain

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9241283

9 November 2024

R. T. Moxley

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9241283

9 November 2024

language of work or name

English

0 references

publication date

1 August 1997

1 reference

8 February 2018

August 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9241283

full work available at URL

9 November 2024

http://www.nature.com/articles/ng0897-407

1 reference

http://www.nature.com/articles/ng0897-407.pdf

9 November 2024

1 reference

9 November 2024

1 reference

8 February 2018

volume

16

1 reference

8 February 2018

issue

4

1 reference

8 February 2018

page(s)

407-409

1 reference

8 February 2018

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

cites work

1 reference

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

21 January 2018

1 reference

Somatic instability of CTG repeat in myotonic dystrophy

21 January 2018

1 reference

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 January 2018

1 reference

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

21 January 2018

1 reference

Identification and expression of six family genes in mouse retina

21 January 2018

1 reference

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

21 January 2018

1 reference

Structure, function and expression of a murine homeobox protein AREC3, a homologue of Drosophila sine oculis gene product, and implication in development

21 January 2018

1 reference

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

21 January 2018

1 reference

7 January 2021

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

7 January 2021

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

1 reference

7 January 2021

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

1 reference

7 January 2021

Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure

1 reference

7 January 2021

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

1 reference

7 January 2021

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation

1 reference

7 January 2021

Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing

1 reference

7 January 2021

Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene

1 reference

7 January 2021

Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements

1 reference

7 January 2021

Nucleosome assembly on CTG triplet repeats

1 reference

7 January 2021

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

1 reference

7 January 2021

Isolation and characterization of human muscle cells

1 reference

7 January 2021

Glucose transport in cultured human skeletal muscle cells. Regulation by insulin and glucose in nondiabetic and non-insulin-dependent diabetes mellitus subjects

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0897-407

1 reference

8 February 2018

1 reference

8 February 2018