Trinucleotide repeat expansion - Open Access .click

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Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases [PDF]

Journal of 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 ...
Mohammadmersad Ghorbani +3 more
doaj +10 more sources

Structural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases [PDF]

Biomolecules
Dynamic mutations in some human genes containing trinucleotide repeats are associated with severe neurodegenerative and neuromuscular disorders—known as Trinucleotide (or Triplet) Repeat Expansion Diseases (TREDs)—which arise when the repeat number of ...
Feng Pan +4 more
doaj +3 more sources

Mechanism of trinucleotide repeat expansion by MutSβ-MutLγ and contraction by FAN1 [PDF]

Nature Communications
Triplet repeat expansion underlies multiple pathologies, including Huntington’s disease, often arising in somatic non-dividing tissues such as the brain. Despite identification of genetic modifiers, mechanistic insights remain limited.
Issam Senoussi +12 more
doaj +4 more sources

The Role of NRF2 in Trinucleotide Repeat Expansion Disorders [PDF]

Antioxidants
Trinucleotide repeat expansion disorders, a diverse group of neurodegenerative diseases, are caused by abnormal expansions within specific genes. These expansions trigger a cascade of cellular damage, including protein aggregation and abnormal RNA ...
Kuo-Hsuan Chang, Chiung-Mei Chen
doaj +4 more sources

Loss of Corneal Nerves and Corneal Haze in Patients with Fuchs’ Endothelial Corneal Dystrophy with the Transcription Factor 4 Gene Trinucleotide Repeat Expansion [PDF]

Ophthalmology Science, 2023
Objective: Seventy percent of Fuchs’ endothelial corneal dystrophy (FECD) cases are caused by an intronic trinucleotide repeat expansion in the transcription factor 4 gene (TCF4). The objective of this study was to characterize the corneal subbasal nerve
Matthew Gillings, MD +8 more
doaj +2 more sources

CTG trinucleotide repeat "big jumps": large expansions, small mice. [PDF]

PLoS Genetics, 2007
Trinucleotide repeat expansions are the genetic cause of numerous human diseases, including fragile X mental retardation, Huntington disease, and myotonic dystrophy type 1.
Mário Gomes-Pereira +6 more
doaj +3 more sources

Expandable DNA Repeat and Human Hereditary Disorders [PDF]

Journal of Kerman University of Medical Sciences, 2016
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia.
Shahin Ramazi +3 more
doaj +3 more sources

Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington's disease. [PDF]