Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington's disease. [PDF]
J Assist Reprod Genet, 2022 AbstractTrinucleotide repeats (TNRs) are dispersed throughout the human genome. About 20 loci are related to human diseases, such as Huntington’s disease (HD). A larger TNR instability is predominantly observed in the paternal germ cells in some TNR disorders.
Cho IK, Easley CA, Chan AWS.
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DNA base excision repair: a mechanism of trinucleotide repeat expansion. [PDF]
Trends Biochem Sci, 2012 The expansion of trinucleotide repeat (TNR) sequences in human DNA is considered to be a key factor in the pathogenesis of more than 40 neurodegenerative diseases. TNR expansion occurs during DNA replication and also, as suggested by recent studies, during the repair of DNA lesions produced by oxidative stress.
Liu Y, Wilson SH.
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Trinucleotide Repeat Expansion Diseases, RNAi, and Cancer. [PDF]
Trends Cancer, 2018 Many neurodegenerative diseases are caused by unstable trinucleotide repeat (TNR) expansions located in disease-associated genes. siRNAs based on CAG repeat expansions effectively kill cancer cell lines in vitro through RNAi. They also cause significant reduction in tumor growth in a human ovarian cancer mouse model with no toxicity to the treated mice.
Murmann AE, Yu J, Opal P, Peter ME.
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RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility [PDF]
Cell Reports, 2014 Human RTEL1 is an essential, multifunctional helicase that maintains telomeres, regulates homologous recombination, and helps prevent bone marrow failure.
Aisling Frizzell +6 more
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Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene. [PDF]
PLoS One, 2017 Lim GX +7 more
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Generation of a Mouse Model of Fuchs Endothelial Corneal Dystrophy by Knock-in of CTG Trinucleotide Repeat Expansion in the TCF4 Gene. [PDF]
Invest Ophthalmol Vis SciOyama Y +9 more
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Tandem repeat disorders: from diagnosis to emerging therapeutic strategies [PDF]
EncephalitisTandem repeat disorders (TRDs) are genetic conditions characterized by the abnormal expansion of repetitive DNA sequences within specific genes. The growing number of identified TRDs highlights their complexity, with varied molecular mechanisms ranging ...
Jangsup Moon
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Drugging DNA Damage Repair Pathways for Trinucleotide Repeat Expansion Diseases. [PDF]
J Huntingtons Dis, 2021 Benn CL, Gibson KR, Reynolds DS.
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Bisulfite Treatment of CG-Rich Track of Trinucleotide Repeat Expansion Disorder: Make the Sequence Less CG Rich. [PDF]
Adv Biomed Res, 2021 Joz Abbasalian Z +2 more
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Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes. [PDF]
Genes (Basel), 2021 Tekendo-Ngongang C +3 more
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