(Q34399378)

1 August 2017

Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues (English)

1 reference

1 August 2017

1 reference

1 reference

Arturo López Castel

1

1 reference

1 August 2017

Masayuki Nakamori

2

1 reference

1 August 2017

Stephanie Tomé

3

1 reference

1 August 2017

David Chitayat

4

1 reference

1 August 2017

Geneviève Gourdon

5

1 reference

1 August 2017

Charles A Thornton

6

1 reference

1 August 2017

Christopher E Pearson

7

1 reference

1 August 2017

1 November 2010

1 reference

1 August 2017

Human Molecular Genetics

1 reference

1 August 2017

20

1 reference

1 August 2017

1

1 reference

1 August 2017

1-15

1 reference

Presence of 5-methylcytosine in CpNpG trinucleotides in the human genome

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Repeat instability as the basis for human diseases and as a potential target for therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

CTCF shapes chromatin by multiple mechanisms: the impact of 20 years of CTCF research on understanding the workings of chromatin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Epigenetic signatures associated with different levels of differentiation potential in human stem cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Inactive X chromosome-specific histone H3 modifications and CpG hypomethylation flank a chromatin boundary between an X-inactivated and an escape gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Human DNA methylomes at base resolution show widespread epigenomic differences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Aging and environmental exposures alter tissue-specific DNA methylation dependent upon CpG island context

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Tissue-specific variation in DNA methylation levels along human chromosome 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

MECP2 promoter methylation and X chromosome inactivation in autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Chromatin remodeling in the noncoding repeat expansion diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Tissue specific differentially methylated regions (TDMR): Changes in DNA methylation during development.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Epigenetics: differential DNA methylation in mammalian somatic tissues

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

DNA methylation signatures within the human brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Chromatin structure of repeating CTG/CAG and CGG/CCG sequences in human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

A CTCF-binding silencer regulates the imprinted genes AWT1 and WT1-AS and exhibits sequential epigenetic defects during Wilms' tumourigenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Myotonic dystrophies type 1 and 2: a summary on current aspects.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

RNA-mediated neuromuscular disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Intra- and interindividual epigenetic variation in human germ cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Repeat instability: mechanisms of dynamic mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

The de novo methylation activity of Dnmt3a is distinctly different than that of Dnmt1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Clinical and molecular aspects of the myotonic dystrophies: a review.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Double-stranded siRNA targeted to the huntingtin gene does not induce DNA methylation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Genomic imprinting: CTCF protects the boundaries

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

The UCSC Genome Browser Database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

CpG methylation modifies the genetic stability of cloned repeat sequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Expanding complexity in myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

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.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Myotonic dystrophy: will the real gene please step forward!

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Is myotonic dystrophy a single-gene disorder?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

DNA methylation in early development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Age at onset in Huntington's disease and methylation at D4S95

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

A study of DNA methylation in myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Hypermethylation of telomere-like foldbacks at codon 12 of the human c-Ha-ras gene and the trinucleotide repeat of the FMR-1 gene of fragile X.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Methylation at the D4S95 locus and predictive testing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Methylation at the Huntington disease-linked D4S95 locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Methylation analysis of CGG sites in the CpG island of the human FMR1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

6 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

DMPK protein isoforms are differentially expressed in myogenic and neural cell lineages.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Expression of the myotonic dystrophy locus-associated homeodomain protein in congenital myotonic dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Independent regulation of the myotonic dystrophy 1 locus genes postnatally and during adult skeletal muscle regeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

The DMWD protein from the myotonic dystrophy (DM1) gene region is developmentally regulated and is present most prominently in synapse-dense brain areas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Genome-wide demethylation destabilizes CTG.CAG trinucleotide repeats in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Possible de novo CTG repeat expansion in the DMPK gene of a patient with cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Stalling of human methyltransferase at single-strand conformers from the Huntington's locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Postmortem examination of two fragile X brothers with an FMR1 full mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Somatic expansion of the (CAG)n repeat in Huntington disease brains

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Gene expression analyses reveal molecular relationships among 20 regions of the human CNS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

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/10.1093%2FHMG%2FDDQ427

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Intriguing association between disease associated unstable trinucleotide repeat and CpG island.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Reduction of CAG expansions in cerebellar cortex and spinal cord of DRPLA.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000673

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

27 October 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ427

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy

1 reference

12 December 2020

Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability

1 reference

12 December 2020

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene

1 reference

12 December 2020

Reduced expression of DMAHP/SIX5 gene in myotonic dystrophy muscle

1 reference

12 December 2020

Variation of CTG-repeat number of the DMPK gene in muscle tissue

1 reference

12 December 2020

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

1 reference

12 December 2020

Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development

1 reference

12 December 2020

Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters

1 reference

12 December 2020

Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels

1 reference

12 December 2020

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

1 reference

12 December 2020

Epigenetic marks by DNA methylation specific to stem, germ and somatic cells in mice

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ427

1 reference

1 August 2017

1 reference

1 August 2017

1 reference