R-LOOPs on short tandem repeat expansion disorders in neurodegenerative diseases

Y Wu, T Song, Q Xu - Molecular Neurobiology, 2023 - Springer
Short tandem repeats (STRs) are short DNA fragments with a length of 2–6 nucleotides that
are consecutively replicated at certain areas of DNA. Expansions of short tandemmutations

Variation of short tandem repeats within and between populations

W J. Wall, R Williamson, M Petrou… - Human molecular …, 1993 - academic.oup.com
… with great care, as from our data the mutation profiles of the different markers varies widely.
… originated from screening clinics for inherited disease where ethnic information had been …

STRScan: targeted profiling of short tandem repeats in whole-genome sequencing data

H Tang, E Nzabarushimana - BMC bioinformatics, 2017 - Springer
Short tandem repeats (STRs) are found in many prokaryotic and eukaryotic genomes, and
… be associated with human diseases [13]. A preeminent example is the Huntington disease, a …

Comparative genetics of functional trinucleotide tandem repeats in humans and apes

AM Andres, M Soldevila, O Lao, V Volpini… - Journal of molecular …, 2004 - Springer
… Many of these loci are functional short tandem repeats (STRs) … These type of loci share
the mutation dynamics of the rest of … This group of genetic diseases has not been detected in …

FLT3 internal tandem duplication mutations associated with human acute myeloid leukemias induce myeloproliferative disease in a murine bone marrow transplant …

LM Kelly, Q Liu, JL Kutok, IR Williams… - Blood, The Journal …, 2002 - ashpublications.org
… Activating mutations in FLT3 have been identified in approximately 30% of patients with …
mutations observed in this disease. Frequently, the mutation is an in-frame internal tandem

[HTML][HTML] A new variant of endemic pemphigus foliaceus in El-Bagre, Colombia: the Hardy-Weinberg-Castle law and linked short tandem repeats

AM Abreu-Velez, EV Robles… - North American Journal of …, 2009 - ncbi.nlm.nih.gov
… The assumed ancestral haplotype, presumed to carry the disease mutation, was then … -Castle
law to short tandem repeats from HLA II favors the locus D6S291 for disease susceptibility, …

Variable tandem repeats accelerate evolution of coding and regulatory sequences

R Gemayel, MD Vinces, M Legendre… - Annual review of …, 2010 - annualreviews.org
diseases such as Huntington disease. Apart from their role in … sequence repeats (SSRs), or
short tandem repeats (STRs), and … Most mutations in TRs are due not to point mutations but …

Mutation analysis of 28 autosomal short tandem repeats in the Chinese Han population

Y Huang, C Liu, C Xiao, X Chen, X Han, S Yi… - Molecular Biology …, 2021 - Springer
… , at a ratio of 6.04:1, and the mutation rate tended to increase … mutations for long alleles
and expansion mutations for short alleles. No obvious bias was observed in the overall mutation

The Role of Polymorphic Short Tandem (CA)n Repeat Loci Segregation Analysis in the Detection of Duchenne Muscular Dystrophy Carriers and Prenatal Diagnosis

V Ferreiro, F Giliberto, L Francipane, I Szijan - Molecular Diagnosis, 2005 - Springer
… Background: Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked diseases
caused by mutations in the dystrophin gene at Xp21.2; they include gross deletions (60%), …

[HTML][HTML] Targeted oligonucleotides for treating neurodegenerative tandem repeat diseases

R Zain, CIE Smith - Neurotherapeutics, 2019 - Elsevier
… event in these diseases; however, sequence contractions, deletions, and mutations have
also … Chromatin domain boundaries were recently reported to co-localize with short tandem