Short tandem repeats in human exons: a target for disease mutations
BE Madsen, P Villesen, C Wiuf - BMC genomics, 2008 - Springer
… Here we focus on a class of very short tandem repeats and their contribution to … human
genes have STRs in their exons according to the definition used in this paper. Despite their short …
genes have STRs in their exons according to the definition used in this paper. Despite their short …
Origin of alternative splicing by tandem exon duplication
FA Kondrashov, EV Koonin - Human molecular genetics, 2001 - academic.oup.com
… undiscovered or that duplicated exons were secondarily lost in … exons in a human gene is
significantly more similar to a homologous exon in a Xenopus laevis gene, and the other exon …
significantly more similar to a homologous exon in a Xenopus laevis gene, and the other exon …
Profiling of short-tandem-repeat disease alleles in 12,632 human whole genomes
… of the repeated trinucleotide CAG within protein-coding exons. Examples of PolyQ diseases
are … Huntington disease is caused by an expansion of the CAG repeats in the first exon of the …
are … Huntington disease is caused by an expansion of the CAG repeats in the first exon of the …
Abundant contribution of short tandem repeats to gene expression variation in humans
… human traits is largely unknown. Here we report a genome-wide survey of the contribution of
short tandem … classes, to gene expression in humans. Our survey identified 2,060 significant …
short tandem … classes, to gene expression in humans. Our survey identified 2,060 significant …
Instability of short tandem repeats (microsatellites) in human cancers
R Wooster, AM Cleton-Jansen, N Collins, J Mangion… - Nature …, 1994 - nature.com
… cancers, examining the CAG repeatin exon 1 of AR in breast cancers. … repeats in several
human cancers. Three groups recently … Analysis of short tandem repeats Twelve short tandem …
human cancers. Three groups recently … Analysis of short tandem repeats Twelve short tandem …
The clinical importance of tandem exon duplication-derived substitutions
L Martinez Gomez, F Pozo, TA Walsh… - Nucleic Acids …, 2021 - academic.oup.com
… As part of a large-scale proteomics analysis of alternative splicing in the human reference
set, we found that tandem exon duplication-derived substitutions were detected significantly …
set, we found that tandem exon duplication-derived substitutions were detected significantly …
Interpreting short tandem repeat variations in humans using mutational constraint
… On the other hand, STRs in coding exons showed significantly reduced estimated mutation
… In contrast to strong levels of constraint in coding exons, the STRs that we had previously …
… In contrast to strong levels of constraint in coding exons, the STRs that we had previously …
Genetics and genomics of core short tandem repeat loci used in human identity testing
JM Butler - Journal of forensic sciences, 2006 - Wiley Online Library
… decade, the human identity testing community has settled on a set of core short tandem repeat
(… identity testing are located in a gene coding region (ie, exon) or are trinucleotide repeats, …
(… identity testing are located in a gene coding region (ie, exon) or are trinucleotide repeats, …
Modern origin of numerous alternatively spliced human introns from tandem arrays
D Zhuo, R Madden, SA Elela… - Proceedings of the …, 2007 - National Acad Sciences
… Consistent with this view is the observation that most of the human exons that have no …
-specific exons have not been examined, and it is unclear whether they were produced by exon-…
-specific exons have not been examined, and it is unclear whether they were produced by exon-…
Origins and evolution of Human tandem duplicated exon substitution events
L Martinez-Gomez, D Cerdán-Vélez… - Genome Biology and …, 2022 - academic.oup.com
… of tandem duplicated exon substitution events in vertebrates, arthropods, and nematodes.
Twelve human gene families have orthologues with tandem duplicated exon substitution …
Twelve human gene families have orthologues with tandem duplicated exon substitution …
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