(Q34267388)

1 August 2017

1 reference

title

Transgenic mouse models for myotonic dystrophy type 1 (DM1) (English)

1 reference

17 March 2024

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14526185

17 March 2024

1 reference

17 March 2024

author name string

D. G. Wansink

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14526185

17 March 2024

B. Wieringa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14526185

17 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14526185

17 March 2024

publication date

1 January 2003

1 reference

full work available at URL

1 August 2017

https://www.karger.com/Article/Pdf/72859

1 reference

Cytogenetics and Genome Research

17 March 2024

published in

1 reference

1 August 2017

100

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1 August 2017

230-242

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1 August 2017

1-4

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Mutant DMPK 3'-UTR transcripts disrupt C2C12 myogenic differentiation by compromising MyoD.

1 August 2017

1

1 reference

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

17 March 2024

2

1 reference

Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice

17 March 2024

3

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.

17 March 2024

4

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Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy

17 March 2024

5

1 reference

Myotonic dystrophy kinase modulates skeletal muscle but not cardiac voltage-gated sodium channels.

17 March 2024

6

1 reference

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

17 March 2024

7

1 reference

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

17 March 2024

8

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

17 March 2024

9

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

17 March 2024

10

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Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis

17 March 2024

11

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

17 March 2024

12

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Nucleosome assembly on CTG triplet repeats

17 March 2024

13

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

17 March 2024

14

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A physical map of the mouse genome

17 March 2024

15

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Expanding complexity in myotonic dystrophy

17 March 2024

16

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Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

17 March 2024

17

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Genome maintenance mechanisms for preventing cancer

17 March 2024

18

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Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

17 March 2024

19

1 reference

Age-dependent and tissue-specific CAG repeat instability occurs in mouse knock-in for a mutant Huntington's disease gene

17 March 2024

21

1 reference

Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs

17 March 2024

22

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

17 March 2024

23

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Identification and expression of six family genes in mouse retina

17 March 2024

24

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Six family genes--structure and function as transcription factors and their roles in development

17 March 2024

25

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Drosophila homolog of the myotonic dystrophy-associated gene, SIX5, is required for muscle and gonad development.

17 March 2024

26

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

17 March 2024

27

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Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy

17 March 2024

28

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An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

17 March 2024

29

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Structural features of trinucleotide repeats associated with DNA expansion

17 March 2024

30

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

17 March 2024

31

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Myotonic dystrophy--a multigene disorder.

17 March 2024

32

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Trinucleotide repeats (CGG)22TGG(CGG)43TGG(CGG)21 from the fragile X gene remain stable in transgenic mice.

17 March 2024

33

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Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice

17 March 2024

34

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MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability

17 March 2024

35

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Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

17 March 2024

36

1 reference

The WD40-repeat protein CreC interacts with and stabilizes the deubiquitinating enzyme CreB in vivo in Aspergillus nidulans

17 March 2024

37

1 reference

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

17 March 2024

38

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Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

17 March 2024

39

1 reference

17 March 2024

Myotonic dystrophies

40

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

17 March 2024

41

1 reference

17 March 2024

Frataxin knockin mouse

42

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Hypermutable myotonic dystrophy CTG repeats in transgenic mice

17 March 2024

43

1 reference

Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder

17 March 2024

44

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Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activity

17 March 2024

45

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Myotonic dystrophy (DM) protein kinase levels in congenital and adult DM patients

17 March 2024

46

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The ancient regulatory-protein family of WD-repeat proteins

17 March 2024

47

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Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

17 March 2024

48

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Dominantly inherited, non-coding microsatellite expansion disorders

17 March 2024

49

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

17 March 2024

50

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Effects of age and gene dose on skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase

17 March 2024

51

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Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice

17 March 2024

52

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Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

17 March 2024

53

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Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

17 March 2024

54

1 reference

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

17 March 2024

55

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An experimentally derived data set constructed for testing large-scale DNA sequence assembly algorithms

17 March 2024

56

1 reference

The WD repeat: a common architecture for diverse functions

17 March 2024

57

1 reference

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

17 March 2024

58

1 reference

MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase

17 March 2024

59

1 reference

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

17 March 2024

60

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Biomedicine. Reconstructing myotonic dystrophy

17 March 2024

61

1 reference

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

17 March 2024

62

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Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR

17 March 2024

63

1 reference

Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios

17 March 2024

64

1 reference

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

17 March 2024

65

1 reference

17 March 2024

Identifiers

DOI

10.1159/000072859

1 reference

release_fwu2v6xf75ehjknfa55wgoitea

1 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fwu2v6xf75ehjknfa55wgoitea

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference