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 tandem … mutations …
are consecutively replicated at certain areas of DNA. Expansions of short tandem … mutations …
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 …
… 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 …
… 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 …
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 …
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, …
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 …
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 …
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%), …
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 …
also … Chromatin domain boundaries were recently reported to co-localize with short tandem …