(Q34499428)

2 August 2017

Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus (English)

1 reference

2 August 2017

16

0 references

Denis Furling

15

Denis Furling

1 reference

2 August 2017

Martin Baraibar

11

0 references

Mário Gomes-Pereira

Mário Gomes-Pereira

12

0 references

Andreas Hoeflich

Andreas Hoeflich

10

0 references

Jean-Yves Hogrel

Jean-Yves Hogrel

8

0 references

author name string

Aline Huguet

1

1 reference

2 August 2017

Fadia Medja

2

1 reference

2 August 2017

Annie Nicole

3

1 reference

2 August 2017

Alban Vignaud

4

1 reference

2 August 2017

Céline Guiraud-Dogan

5

1 reference

2 August 2017

Arnaud Ferry

6

1 reference

2 August 2017

Valérie Decostre

7

1 reference

2 August 2017

Friedrich Metzger

9

1 reference

2 August 2017

Jack Puymirat

13

1 reference

2 August 2017

Guillaume Bassez

14

1 reference

2 August 2017

Geneviève Gourdon

17

1 reference

2 August 2017

29 November 2012

1 reference

2 August 2017

1 reference

2 August 2017

8

1 reference

2 August 2017

11

1 reference

2 August 2017

e1003043

1 reference

Creative Commons Attribution 4.0 International

2 August 2017

start time

29 November 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3510028/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Cellular toxicity of expanded RNA repeats: focus on RNA foci

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Myotonic dystrophy mouse models: towards rational therapy development.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Separation of fast from slow anabolism by site-specific PEGylation of insulin-like growth factor I (IGF-I).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Alternative splicing dysregulation secondary to skeletal muscle regeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Long tract of untranslated CAG repeats is deleterious in transgenic mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Non-ATG-initiated translation directed by microsatellite expansions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Open-label trial of recombinant human insulin-like growth factor 1/recombinant human insulin-like growth factor binding protein 3 in myotonic dystrophy type 1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Insulin-like growth factors (IGFs), IGF receptors, and IGF-binding proteins: roles in skeletal muscle growth and differentiation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Impaired recovery of dysferlin-null skeletal muscle after contraction-induced injury in vivo

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Alternative splicing in disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

CTG trinucleotide repeat "big jumps": large expansions, small mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Pre-mRNA splicing and human disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Myotonic dystrophy: the role of RNA CUG triplet repeats

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Tissue-specific and developmentally regulated alternative splicing in mouse skeletal muscle ryanodine receptor mRNA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Developmental control of the excitability of muscle: transplantation experiments on a myotonic mouse mutant

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period.

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003043

Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003043

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003043

Myotonic dystrophy transgenic mice exhibit pathologic abnormalities in diaphragm neuromuscular junctions and phrenic nerves.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003043

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003043

DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003043

Whole body insulin resistance in myotonic dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003043

Peripheral neuropathy is linked to a severe form of myotonic dystrophy in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003043

Impact of ageing on proteasome structure and function in human lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003043

Differential susceptibility of muscles to myotonia and force impairment in a mouse model of myotonic dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003043

Slow myosin heavy chain expression in the absence of muscle activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003043

MRI of tibialis anterior skeletal muscle in myotonic dystrophy type 1.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Accurate assessment of in situ isometric contractile properties of hindlimb plantar and dorsal flexor muscle complex of intact mice.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Overexpression of insulin-like growth factor-binding protein-2 in transgenic mice reduces postnatal body weight gain

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510028

Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin–proteasome pathway

27 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003043

Postabsorptive and insulin-stimulated energy and protein metabolism in patients with myotonic dystrophy type 1

21 January 2018

1 reference

12 December 2020

GH secretion status in myotonic dystrophy

1 reference

12 December 2020

Monitoring activity and inhibition of 26S proteasomes with fluorogenic peptide substrates

1 reference

12 December 2020

The physiological effects of IGF-1 (class 1:Ea transgene) over-expression on exercise-induced damage and adaptation in dystrophic muscles of mdx mice

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1003043

Identifiers

DOI

1 reference

2 August 2017

1 reference

2 August 2017

1 reference