Articles with "trinucleotide repeat" as a keyword



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Measuring Dynamic Behavior of Trinucleotide Repeat Tracts In Vivo in Saccharomyces cerevisiae.

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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… read more here.

Keywords: saccharomyces cerevisiae; repeat; trinucleotide repeat; behavior trinucleotide ... See more keywords
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TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease

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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)… read more here.

Keywords: expansion; fuchs endothelial; repeat; disease ... See more keywords
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Trinucleotide repeat containing 6c (TNRC6c) is essential for microvascular maturation during distal airspace sacculation in the developing lung

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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)… read more here.

Keywords: tgf family; tnrc6c mutants; trinucleotide repeat; tnrc6c ... See more keywords
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Versatile Target-Guided Screen for Discovering Bidirectional Transcription Inhibitors of a Trinucleotide Repeat Disease.

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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… read more here.

Keywords: transcription; bidirectional transcription; target guided; repeat ... See more keywords

Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy.

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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… read more here.

Keywords: rs613872; fecd; corneal; trinucleotide repeat ... See more keywords
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Genomic relationships among sixteen species of Avena based on (ACT)6 trinucleotide repeat FISH.

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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… read more here.

Keywords: relationships among; act; genomic relationships; trinucleotide repeat ... See more keywords