The DOI matches its Crossref record; 155 of the 157 references it cites were found in a registry or an index.
Repeat instability: mechanisms of dynamic mutations
Abstract
Disease-causing repeat instability is an important and unique form of mutation that is linked to more than 40 neurological, neurodegenerative and neuromuscular disorders. DNA repeat expansion mutations are dynamic and ongoing within tissues and across generations. The patterns of inherited and tissue-specific instability are determined by both gene-specific cis-elements and trans-acting DNA metabolic proteins. Repeat instability probably involves the formation of unusual DNA structures during DNA replication, repair and recombination. Experimental advances towards explaining the mechanisms of repeat instability have broadened our understanding of this mutational process. They have revealed surprising ways in which metabolic pathways can drive or protect from repeat instability.
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“By a process that is poorly understood, a small number of specific normal-length STRs undergo somatic or germline expansion and transition to intermediate, pre-mutation, and mutation (affected) repeat unit tract lengths (Mirkin, 2007; Pearson et al., 2005).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as Pearson et al., 2005
In the citing paper
“Notably, a large number of daSTRs known to undergo paternal instability (McMurray, 2010; Pearson et al., 2005) co-localized to boundaries in mouse sperm and not in mouse oocytes (Du et al., 2017), suggesting that daSTRs could be at boundaries when germ line expansion takes place (Figure S3).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as Pearson et al., 2005
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2 of the 157 references couldn’t be matched to a known paper.
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Items 901–926 of 926
Whan, V., Hobbs, M., McWilliam, S., Lynn, D. J., Lutzow, Y. S., Khatkar, M., Barendse, W., Raadsma, H., & Tellam, R. L. (2021) · Figshare · doi:10.6084/m9.figshare.14434402
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Whan, V., Hobbs, M., McWilliam, S., Lynn, D. J., Lutzow, Y. S., Khatkar, M., Barendse, W., Raadsma, H., & Tellam, R. L. (2010) · Figshare · doi:10.6084/m9.figshare.14434393
Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W.-P., Leung, Y. Y., Harms, M. B., Vardarajan, B. N., & Heinzen, E. L. (2024) · Figshare · doi:10.6084/m9.figshare.26673282
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Additional file 2 of Context dependency of nucleotide probabilities and variants in human DNA
Liang, Y., Grønbæk, C., Fariselli, P., & Krogh, A. (2022) · Figshare · doi:10.6084/m9.figshare.19101794
Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W.-P., Leung, Y. Y., Harms, M. B., Vardarajan, B. N., & Heinzen, E. L. (2024) · Figshare · doi:10.6084/m9.figshare.26673267
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Wang, H., Shan, D., Li, J., Zhao, Y., Yan, C., & Liu, F. (2026) · The Cerebellum · doi:10.1007/s12311-026-01980-w
MASTR-seq enables multiplexed analysis of short tandem repeats with sequencing
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Novel Y-STRs with elevated mutation rates further improve male relative differentiation
Zandstra, D., Ralf, A., van der Gaag, K. J., Ghanbari, M., Sijen, T., & Kayser, M. (2026) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2026.103497
Tubeuf, H. (2019) · theses.fr (ABES) · doi:10.70675/e62a0ca5z7722z4c72z9d57z726ae2bc0e42
Etude des éléments régulateurs de l'expression des gènes chez l'humain
Bessière, C. (2018) · theses.fr (ABES) · doi:10.70675/0b26676ez90bfz4f47zba59z90853f19d510
“Ces variations sont retrouvées chez de nombreux mammifères et les CNVs les mieux caractérisés sont les répétitions de trinucléotides (trinucleotide repeats, TNRs) [200].”
BackgroundGene editing approaches of microsatellite disorders : shortening expanded repeats
Poggi, L. (2020) · theses.fr (ABES) · doi:10.70675/741f0470z28a0z4c3bz9e75ze578bdc49074 · Cited by 1
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“…for repeat expansion disorders driven by epigenetic repression; establishing sustained, tissue-relevant FXN reactivation with an acceptable safety profile would provide a transferable model for precision epigenetic therapies in conditions such as fragile X syndrome and myotonic dystrophy [76].”
Trinucleotide Repeat (TNR) expansions mining algorithm based on the Apriori algorithm
Alaqeeli, O. (2026) · Journal of Biological Research - Bollettino della Società Italiana di Biologia Sperimentale · doi:10.4081/jbr.2026.14607
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The Interactome at the N17 Domain of Huntingtin
Sequeira, L. A. (2014) · MacSphere (McMaster University) · doi:10.71548/21114
Metadata
- Authors
- Pearson, C. E., Edamura, K. N., & Cleary, J. D.
- Affiliations
- University of Toronto (CA)
- Hospital for Sick Children (CA)
- Corresponding author
- Pearson, Christopher E.
- Venue
- Nature Reviews Genetics
- Published
- 2005-10
- Volume
- 6
- Issue
- 10
- Pages
- 729-742
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2087505473
- Cited by
- 924
- References
- 157
- Citations by year
- 2026: 13 · 2025: 23 · 2024: 45 · 2023: 29 · 2022: 25 · 2021: 54 · 2020: 27 · 2019: 38 · 2018: 53 · 2017: 45 · 2016: 58 · 2015: 41 · 2014: 55 · 2013: 46 · 2012: 56
- FWCI
- 3.89
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Keywords
- repeat instability, dynamic mutation, trinucleotide repeat disorders, neurodegenerative diseases, neuromuscular disorders, cis-regulatory elements, trans-acting proteins, DNA replication, DNA repair, DNA recombination, DNA secondary structure
- MeSH terms
- DNA Repair, DNA Replication, Humans, Models, Genetic, Mutation, Recombination, Genetic, Trinucleotide Repeat Expansion, Heredodegenerative Disorders, Nervous System, DNA Repeat Expansion, Genomic Instability
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