CTG trinucleotide repeat "big jumps": large expansions, small mice [PDF]
PLoS Genetics, 2005 Trinucleotide repeat expansions are the genetic cause of numerous human diseases, including fragile X mental retardation, Huntington disease, and myotonic dystrophy type 1. Disease severity and age of onset are critically linked to expansion size. Previous mouse models of repeat instability have not recreated large intergenerational expansions ("big ...
Arnold Munnich +12 more
doaj +12 more sources
Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4. [PDF]
PLoS ONE, 2018 Fuchs Endothelial Corneal Dystrophy (FECD) is a late onset, autosomal dominant eye disease that can lead to loss of vision. Expansion of a CTG trinucleotide repeat in the third intron of the transcription factor 4 (TCF4) gene is highly associated with ...
Eric D Wieben +7 more
doaj +4 more sources
Comparative (computational) analysis of the DNA methylation status of trinucleotide repeat expansion diseases. [PDF]
J Nucleic Acids, 2013 Previous studies have examined DNA methylation in different trinucleotide repeat diseases. We have combined this data and used a pattern searching algorithm to identify motifs in the DNA surrounding aberrantly methylated CpGs found in the DNA of ...
Ghorbani M, Taylor SJ, Pook MA, Payne A.
europepmc +9 more sources
Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy [PDF]
Annals of Clinical and Translational Neurology, 2020 Objective Trinucleotide GGC repeat expansion in the 5’UTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID).
Pu Fang +11 more
doaj +4 more sources
Base excision repair of oxidative DNA damage coupled with removal of a CAG repeat hairpin attenuates trinucleotide repeat expansion [PDF]
Nucleic Acids Research, 2014 Trinucleotide repeat (TNR) expansion is responsible for numerous human neurodegenerative diseases. However, the underlying mechanisms remain unclear. Recent studies have shown that DNA base excision repair (BER) can mediate TNR expansion and deletion by ...
Meng Xu +5 more
semanticscholar +4 more sources
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. [PDF]
PLoS ONE, 2012 Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation.
Eric D Wieben +6 more
doaj +4 more sources
Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia [PDF]
BioTechniques, 2011 Friedreich ataxia is a neurodegenerative disorder caused by the expansion of a GAA trinucleotide repeat sequence within the first intron of the FXN gene.
Timothy P. Holloway +3 more
doaj +3 more sources
DNA Methylation and Trinucleotide Repeat Expansion Diseases [PDF]
, 2012 Copyright @ 2012 InTech This article has been made available through the Brunel Open Access Publishing Fund. This article is made available through the Brunel Open Access Publishing Fund.
M. Pook
semanticscholar +8 more sources
Drugging DNA Damage Repair Pathways for Trinucleotide Repeat Expansion Diseases. [PDF]
J Huntingtons Dis, 2021 DNA damage repair (DDR) mechanisms have been implicated in a number of neurodegenerative diseases (both genetically determined and sporadic).
Benn CL, Gibson KR, Reynolds DS.
europepmc +4 more sources
Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion [PDF]
Brain Sciences, 2023 Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinucleotide GGC repeats in NOTCH2NLC.
Yusran Ady Fitrah +24 more
doaj +3 more sources