Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells-Reference-Cited by-同舟云学术

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Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells

Published:2018-11-27 Issue: Volume:9 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Pešović Jovan,Perić Stojan,Brkušanin Miloš,Brajušković Goran,Rakočević-Stojanović Vidosava,Savić-Pavićević Dušanka

Funder

Ministarstvo Prosvete, Nauke i Tehnološkog Razvoja

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference49 articles.

1. Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.;Axford;PLoS Genet.,2013

2. CpG methylation, a parent-of-origin effect for maternal-biased transmission of congenital myotonic dystrophy.;Barbé;Am. J. Hum. Genet.,2017

3. DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.;Bettencourt;Ann. Neurol.,2016

4. Identification and characterization of 5’ CCG interruptions in complex DMPK expanded alleles.;Botta;Eur. J. Hum. Genet.,2017

5. 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.;Braida;Hum. Mol. Genet.,2010

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4. Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications;Nature Reviews Genetics;2024-03-11

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