BiomoleculesDynamic 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
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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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Studies on Copper and Aβ-Induced Conformational Changes in CAG/CTG Trinucleotide Repeats Sequence [PDF]
Journal of Alzheimer's Disease Reports, 2017 DNA conformation and stability are critical for the normal cell functions, which control many cellular processes in life, such as replication, transcription, DNA repair, etc.
M. Govindaraju +5 more
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Generation of Rhesus Macaque Embryos with Expanded CAG Trinucleotide Repeats in the Huntingtin Gene. [PDF]
CellsRyu J +8 more
europepmc +3 more sources
Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis [PDF]
Frontiers in NeuroscienceFragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID). However, its diagnostic rate needs to be improved by screening for specific populations.
Jianmei Huang +12 more
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µLAS: Sizing of expanded trinucleotide repeats with femtomolar sensitivity in less than 5 minutes. [PDF]
Sci Rep, 2019 We present µLAS, a lab-on-chip system that concentrates, separates, and detects DNA fragments in a single module. µLAS speeds up DNA size analysis in minutes using femtomolar amounts of amplified DNA.
Malbec R +9 more
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Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia. [PDF]
Neurol Genet, 2018 Spinocerebellar ataxia type 2 (SCA2), an autosomal dominant cerebellar disorder belonging to the polyglutamine (polyQ) diseases, is characterized by progressive ataxia, slow saccadic eye movement, hyporeflexia, peripheral neuropathy, and pyramidal and ...
Tojima M +6 more
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Small interfering RNAs based on huntingtin trinucleotide repeats are highly toxic to cancer cells. [PDF]
EMBO Rep, 2018 Murmann AE +10 more
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Mismatch repair enhances convergent transcription-induced cell death at trinucleotide repeats by activating ATR. [PDF]
DNA Repair (Amst), 2016 Chatterjee N, Lin Y, Wilson JH.
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