Results 1 to 10 of about 17,057 (211)

Effect of Trinucleotide Repeats in the Huntington's Gene on Intelligence [PDF]

open access: yesEBioMedicine, 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.
Amy L Conrad   +2 more
exaly   +5 more sources

Trinucleotide Repeats: A structural perspective [PDF]

open access: yesFrontiers 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
doaj   +5 more sources

TALEN-Induced Double-Strand Break Repair of CTG Trinucleotide Repeats

open access: yesCell Reports, 2018
Summary: Trinucleotide repeat expansions involving CTG/CAG triplets are responsible for several neurodegenerative disorders, including myotonic dystrophy and Huntington’s disease. Because expansions trigger the disease, contracting repeat length could be
Valentine Mosbach   +2 more
exaly   +4 more sources

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]

open access: yesFrontiers 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
doaj   +2 more sources

Construction of DNA/RNA Triplex Helices Based on GAA/TTC Trinucleotide Repeats [PDF]

open access: yesBio-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
doaj   +2 more sources

Conformational and migrational dynamics of slipped-strand DNA three-way junctions containing trinucleotide repeats [PDF]

open access: yesNature 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
doaj   +2 more sources

Variation within the Huntington's disease gene influences normal brain structure. [PDF]

open access: yesPLoS ONE, 2012
Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we
Mark Mühlau   +9 more
doaj   +3 more sources

Trinucleotide repeat disorders

open access: yes, 2018
Trinucleotide repeat disorders comprise a variable group of inherited neurodegenerative diseases, with a large range in prevalence figures. There is a broad range in clinical presentations, but many of these diseases lead to some form of ataxia or other movement disorders, which are frequently combined with cognitive or psychiatric disturbances.
den Dunnen, Wilfred; id_orcid
openaire   +4 more sources

Bioinformatics Analysis of the Interaction of miRNAs and piRNAs with Human mRNA Genes Having di- and Trinucleotide Repeats. [PDF]

open access: yesGenes (Basel), 2022
The variability of nucleotide repeats is considered one of the causes of diseases, but their biological function is not understood. In recent years, the interaction of miRNAs and piRNAs with the mRNAs of genes responsible for developing neurodegenerative
Belkozhayev A   +8 more
europepmc   +2 more sources

Signatures of selection in mammalian clock genes with coding trinucleotide repeats: Implications for studying the genomics of high‐pace adaptation [PDF]

open access: yesEcology 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
doaj   +2 more sources

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