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<i>MSH2</i> knock-down shows CTG repeat stability and concomitant upstream demethylation at the <i>DMPK</i> locus in myotonic dystrophy type 1 human embryonic stem cells

2020-09-25

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG repeat in the DMPK gene, where expansion size and somatic mosaicism correlates with disease severity and age of onset. While it is known that the mismatch repair protein MSH2 contributes to the unstable nature of the repeat, its role on other disease-related features, such as CpG methylation upstream of the repeat, is unknown. In this study, we inves...

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Literature Corpus work
eb49f39f-92d7-5464-b7a1-3664011e7732
DOI
10.1101/2020.09.25.313197
Open publication

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<i>MSH2</i> knock-down shows CTG repeat stability and concomitant upstream demethylation at the <i>DMPK</i> locus in myotonic dystrophy type 1 human embryonic stem cellsDOI 10.1101/2020.09.25.313197
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