[HTML][HTML] 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Repeat expansion diseases

H Paulson - Handbook of clinical neurology, 2018 - Elsevier
More than 40 diseases, most of which primarily affect the nervous system, are caused by
expansions of simple sequence repeats dispersed throughout the human genome …

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

RE Mukamel, RE Handsaker, MA Sherman, AR Barton… - Science, 2021 - science.org
Many human proteins contain domains that vary in size or copy number because of variable
numbers of tandem repeats (VNTRs) in protein-coding exons. However, the relationships of …

[HTML][HTML] On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - ASBMB
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

[HTML][HTML] An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

SR Chintalaphani, SS Pineda, IW Deveson… - Acta Neuropathologica …, 2021 - Springer
Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …

The impact of short tandem repeat variation on gene expression

SF Fotsing, J Margoliash, C Wang, S Saini, R Yanicky… - Nature …, 2019 - nature.com
Short tandem repeats (STRs) have been implicated in a variety of complex traits in humans.
However, genome-wide studies of the effects of STRs on gene expression thus far have had …

[HTML][HTML] Lysosomal cathepsins and their regulation in aging and neurodegeneration

V Stoka, V Turk, B Turk - Ageing research reviews, 2016 - Elsevier
Lysosomes and lysosomal hydrolases, including the cathepsins, have been shown to
change their properties with aging brain a long time ago, although their function was not …

[HTML][HTML] ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

E Dolzhenko, MF Bennett, PA Richmond, B Trost… - Genome biology, 2020 - Springer
Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly
more pathogenic repeat expansions remain to be discovered. Existing methods for detecting …

Multiple Pathways of Recombination Induced by Double-Strand Breaks in Saccharomyces cerevisiae

F Pâques, JE Haber - Microbiology and molecular biology reviews, 1999 - Am Soc Microbiol
The budding yeast Saccharomyces cerevisiae has been the principal organism used in
experiments to examine genetic recombination in eukaryotes. Studies over the past decade …

Transcriptional regulatory elements in the human genome

GA Maston, SK Evans, MR Green - Annu. Rev. Genomics Hum …, 2006 - annualreviews.org
The faithful execution of biological processes requires a precise and carefully orchestrated
set of steps that depend on the proper spatial and temporal expression of genes. Here we …