(Q50439859)

English

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.

scientific article published on 15 January 2010

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scholarly article

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

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. (English)

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

0 references

myotonic dystrophy

1 reference

based on heuristic

inferred from title

Jean-Louis Mandel

11

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

Catharina G Faber

object named as

Catharina G Faber

12

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Darren G Monckton

object named as

Darren G Monckton

15

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9

object named as

Michel Koenig

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

author name string

Claudia Braida

1

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

Rhoda K A Stefanatos

2

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

Berit Adam

3

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

Navdeep Mahajan

4

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

Hubert J M Smeets

5

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

Florence Niel

6

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

Cyril Goizet

7

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

Benoit Arveiler

8

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

Clotilde Lagier-Tourenne

10

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

Christine E M de Die-Smulders

13

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

Frank Spaans

14

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

publication date

15 January 2010

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

Human Molecular Genetics

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

19

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

8

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

1399-1412

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Anticipation in myotonic dystrophy: fact or fiction?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Myotonic dystrophy associated with hereditary motor and sensory neuropathy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Myotonic dystrophy. A reassessment by conventional and more recently introduced neurophysiological techniques.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Minisatellite repeat coding as a digital approach to DNA typing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Frequency and stability of the myotonic dystrophy type 1 premutation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Replication fork dynamics and dynamic mutations: the fork-shift model of repeat instability

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

(CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

RNA pathogenesis of the myotonic dystrophies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Fragile X-associated tremor/ataxia syndrome (FXTAS).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Protein composition of the intranuclear inclusions of FXTAS.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Charcot-Marie-Tooth disease: a clinico-genetic confrontation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Mfold web server for nucleic acid folding and hybridization prediction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Interruptions in the Triplet Repeats of SCA1 and FRAXA Reduce the Propensity and Complexity of Slipped Strand DNA (S-DNA) Formation†

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ015

21 January 2018

Identifiers

10.1093/HMG/DDQ015

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/20080938

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