Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity (Q47747960)

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English	Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22595968

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity (English)

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22595968

myotonic dystrophy

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based on heuristic

inferred from title

quantitative trait

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based on heuristic

inferred from title

Darren G Monckton

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Darren G Monckton

15

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author name string

Fernando Morales

1

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5 February 2018

http://europepmc.org/abstract/MED/22595968

Jillian M Couto

2

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http://europepmc.org/abstract/MED/22595968

Catherine F Higham

3

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http://europepmc.org/abstract/MED/22595968

Grant Hogg

4

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http://europepmc.org/abstract/MED/22595968

Patricia Cuenca

5

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http://europepmc.org/abstract/MED/22595968

Claudia Braida

6

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http://europepmc.org/abstract/MED/22595968

Richard H Wilson

7

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http://europepmc.org/abstract/MED/22595968

Berit Adam

8

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http://europepmc.org/abstract/MED/22595968

Gerardo del Valle

9

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http://europepmc.org/abstract/MED/22595968

Roberto Brian

10

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http://europepmc.org/abstract/MED/22595968

Mauricio Sittenfeld

11

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http://europepmc.org/abstract/MED/22595968

Tetsuo Ashizawa

12

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http://europepmc.org/abstract/MED/22595968

Alison Wilcox

13

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http://europepmc.org/abstract/MED/22595968

Douglas E Wilcox

14

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http://europepmc.org/abstract/MED/22595968

publication date

16 May 2012

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http://europepmc.org/abstract/MED/22595968

Human Molecular Genetics

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http://europepmc.org/abstract/MED/22595968

21

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http://europepmc.org/abstract/MED/22595968

16

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5 February 2018

http://europepmc.org/abstract/MED/22595968

3558-3567

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22595968

Understanding what determines the frequency and pattern of human germline mutations

1 reference

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Microsatellite repeat instability and neurological disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS185

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%2FDDS185

21 January 2018

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

1 reference

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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

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Anticipation in myotonic dystrophy: fact or fiction?

1 reference

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21 January 2018

Somatic instability of CTG repeat in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS185

21 January 2018

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

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21 January 2018

Survival and mortality of myotonic dystrophy type 1 (Steinert's disease) in the population of Belgrade

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A general method for the detection of large CAG repeat expansions by fluorescent PCR

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21 January 2018

250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1.

1 reference

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21 January 2018

Epidemiological and genetic studies of myotonic dystrophy type 1 in Taiwan

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS185

21 January 2018

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS185

21 January 2018

A general test of association for quantitative traits in nuclear families

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS185

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%2FDDS185

21 January 2018

High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations.

1 reference

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21 January 2018

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

1 reference

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21 January 2018

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

1 reference

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21 January 2018

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

1 reference

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21 January 2018

Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease

1 reference

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21 January 2018

Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS185

21 January 2018

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS185

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS185

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS185

21 January 2018

Pathogenic mechanisms of myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS185

21 January 2018

A novel approach to investigate tissue-specific trinucleotide repeat instability

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS185

21 January 2018

Continuous and periodic expansion of CAG repeats in Huntington's disease R6/1 mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS185

21 January 2018

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.

1 reference

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21 January 2018

Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?

1 reference

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21 January 2018

Real-time DNA sequencing from single polymerase molecules

1 reference

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21 January 2018

Continuous base identification for single-molecule nanopore DNA sequencing

1 reference

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21 January 2018

A universal mechanism ties genotype to phenotype in trinucleotide diseases

1 reference

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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

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21 January 2018

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.

1 reference

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21 January 2018

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

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21 January 2018

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins

1 reference

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21 January 2018

Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

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Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA.

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Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.

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A tetranucleotide repeat mouse minisatellite displaying substantial somatic instability during early preimplantation development

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

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

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Hypermutable myotonic dystrophy CTG repeats in transgenic mice

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Identifiers

10.1093/HMG/DDS185

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22595968

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22595968

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