Trinucleotide Repeats: A structural perspective [PDF]
Frontiers in Neurology, 2013 Trinucleotide repeat (TNR) expansions are present in a wide range of genes involved in several neurological disorders, being directly involved in the molecular mechanisms underlying pathogenesis through modulation of gene expression and/or the function ...
Bruno eAlmeida +3 more
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Chronic Exposure to Cadmium and Antioxidants Does Not Affect the Dynamics of Expanded CAG•CTG Trinucleotide Repeats in a Mouse Cell Culture System of Unstable DNA [PDF]
Frontiers in Cellular Neuroscience, 2021 More than 30 human disorders are caused by the expansion of simple sequence DNA repeats, among which triplet repeats remain the most frequent. Most trinucleotide repeat expansion disorders affect primarily the nervous system, through mechanisms of ...
Mário Gomes-Pereira, Darren G. Monckton
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Construction of DNA/RNA Triplex Helices Based on GAA/TTC Trinucleotide Repeats [PDF]
Bio-Protocol, 2021 Atypical DNA and RNA secondary structures play a crucial role in simple sequence repeat (SSR) diseases, which are associated with a class of neurological and neuromuscular disorders known as “anticipation diseases,” where the age of disease onset ...
Jiahui Zhang +4 more
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Conformational and migrational dynamics of slipped-strand DNA three-way junctions containing trinucleotide repeats [PDF]
Nature Communications, 2021 DNA three-way junctions are branched structures formed during replication, repair, and recombination, and are involved in models of repeat expansion. Here the authors use single-molecule Förster resonance energy transfer to reveal the dynamics of DNA ...
Tianyu Hu +2 more
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Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing [PDF]
Genome Medicine, 2017 Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably.
Qian Liu +4 more
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Effect of Trinucleotide Repeats in the Huntington's Gene on Intelligence [PDF]
EBioMedicine, 2018 Background: Huntington's Disease (HD) is caused by an abnormality in the HTT gene. This gene includes trinucleotide repeats ranging from 10 to 35, and when expanded beyond 39, causes HD.
Jessica K. Lee +6 more
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Signatures of selection in mammalian clock genes with coding trinucleotide repeats: Implications for studying the genomics of high‐pace adaptation [PDF]
Ecology and Evolution, 2017 Climate change is predicted to affect the reproductive ecology of wildlife; however, we have yet to understand if and how species can adapt to the rapid pace of change.
Melanie B. Prentice +8 more
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Validation of methylation-specific polymerase chain reaction method and evaluation of FMR1 gene pre-mutations in premature ovarian insufficiency [PDF]
مجله پزشکی دانشگاه علوم پزشکی تبریز, 2022 Background. Fragile X-associated premature ovarian insufficiency is clinically defined as a type of early ovarian failure with irregular menstrual cycles, increased follicle-stimulating hormone, premature menopause, and infertility.
Fatemeh Afkhami +3 more
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Highly specific contractions of a single CAG/CTG trinucleotide repeat by TALEN in yeast. [PDF]
PLoS ONE, 2014 Trinucleotide repeat expansions are responsible for more than two dozens severe neurological disorders in humans. A double-strand break between two short CAG/CTG trinucleotide repeats was formerly shown to induce a high frequency of repeat contractions ...
Guy-Franck Richard +5 more
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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 +1 more source