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Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7306-4_30
Abstract: Trinucleotide repeat (TNR) tracts are inherently unstable during DNA replication, leading to repeat expansions and/or contractions. Expanded tracts are the cause of over 40 neurodegenerative and neuromuscular diseases. In this chapter, we focus on the…
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Keywords:
saccharomyces cerevisiae;
repeat;
trinucleotide repeat;
behavior trinucleotide ... See more keywords
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Published in 2021 at "Progress in Retinal and Eye Research"
DOI: 10.1016/j.preteyeres.2020.100883
Abstract: Fuchs endothelial corneal dystrophy (FECD) is a common cause for heritable visual loss in the elderly. Since the first description of an association between FECD and common polymorphisms situated within the transcription factor 4 (TCF4)…
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Keywords:
expansion;
fuchs endothelial;
repeat;
disease ... See more keywords
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Published in 2017 at "Developmental biology"
DOI: 10.1016/j.ydbio.2017.07.018
Abstract: GW182 (also known asTNRC6) family members are critically involved in the final effector phase of miRNA-mediated mRNA repression. The three mammalian paralogs, TNRC6a, b and c, are thought to be redundant based on Argonaute (Ago)…
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Keywords:
tgf family;
tnrc6c mutants;
trinucleotide repeat;
tnrc6c ... See more keywords
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Published in 2021 at "ACS medicinal chemistry letters"
DOI: 10.1021/acsmedchemlett.1c00064
Abstract: Myotonic dystrophy type 1 originates from d(CTG·CAG) repeats that undergo aberrant expansion during normal processing because the d(CTG) repeat forms stable hairpin structures. Bidirectional transcription of d(CTG·CAG) yields two RNA transcripts that undergo repeat-associated non-ATG…
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Keywords:
transcription;
bidirectional transcription;
target guided;
repeat ... See more keywords
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Published in 2019 at "Cornea"
DOI: 10.1097/ico.0000000000001952
Abstract: PURPOSE To investigate single nucleotide polymorphisms (SNPs) and trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene in a large cohort of German patients with Fuchs endothelial corneal dystrophy (FECD). METHODS Genomic DNA…
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Keywords:
rs613872;
fecd;
corneal;
trinucleotide repeat ... See more keywords
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Published in 2018 at "Genome"
DOI: 10.1139/gen-2017-0132
Abstract: Knowledge of the locations of repeat elements could be very important in the assembly of genome sequences and their assignment to physical chromosomes. Genomic and species relationships among 16 species were investigated using fluorescence in…
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Keywords:
relationships among;
act;
genomic relationships;
trinucleotide repeat ... See more keywords