Cited by 496Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancerGenetics and Neurodevelopmental Disorders

The DOI matches its Crossref record; 128 of the 129 references it cites were found in a registry or an index.

Mechanisms of trinucleotide repeat instability during human development

Open access

McMurray, Cynthia T.·2010·Nature Reviews Genetics

DOI 10.1038/nrg2828PMC PMC3175376

Open this paper in CoChat — free account

Abstract

Trinucleotide expansion underlies several human diseases. Expansion occurs during multiple stages of human development in different cell types, and is sensitive to the gender of the parent who transmits the repeats. Repair and replication models for expansions have been described, but we do not know whether the pathway involved is the same under all conditions and for all repeat tract lengths, which differ among diseases. Currently, researchers rely on bacteria, yeast and mice to study expansion, but these models differ substantially from humans. We need now to connect the dots among human genetics, pathway biochemistry and the appropriate model systems to understand the mechanism of expansion as it occurs in human disease.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1038/nrg2828

Cites

128 of 128 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase η
Masutani, C., Kusumoto, R., Yamada, A., Dohmae, N., Yokoi, M., Yuasa, M., Araki, M., Iwai, S., Takio, K., & Hanaoka, F. (1999) · Nature · doi:10.1038/21447 · Cited by 1,292
Transcription-coupled DNA repair: two decades of progress and surprises
Hanawalt, P. C., & Spivak, G. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2549 · Cited by 1,081
Expandable DNA repeats and human disease
Mirkin, S. M. (2007) · Nature · doi:10.1038/nature05977 · Cited by 934
Eukaryotic Translesion Polymerases and Their Roles and Regulation in DNA Damage Tolerance
Waters, L. S., Minesinger, B. K., Wiltrout, M. E., D'Souza, S., Woodruff, R. V., & Walker, G. C. (2009) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00034-08 · Cited by 591
Mutagenicity, toxicity and repair of DNA base damage induced by oxidation
Bjelland, S., & Seeberg, E. C. (2003) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2003.07.002 · Cited by 526
Repeat expansion disease: progress and puzzles in disease pathogenesis
Spada, A. R. L., & Taylor, J. P. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2748 · Cited by 497
Transcription-coupled nucleotide excision repair in mammalian cells: Molecular mechanisms and biological effects
Fousteri, M., & Mullenders, L. H. (2008) · Cell Research · doi:10.1038/cr.2008.6 · Cited by 487
Replication fork stalling at natural impediments
Mirkin, E. V., & Mirkin, S. M. (2007) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00030-06 · Cited by 482
Mechanisms in Eukaryotic Mismatch Repair
Modrich, P. L. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.r600022200 · Cited by 459

Show all 129 references

Sorted by citations

Items 301–400 of 485

Fructose-2,6-bisphosphate restores DNA repair activity of PNKP and ameliorates neurodegenerative symptoms in Huntington’s disease
Chakraborty, A., Sreenivasmurthy, S. G., Miller, W., Huai, W., Biswas, T., Mandal, S. M., Boscá, L., Krishnan, B., Ghosh, G., & Hazra, T. K. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2406308121 · Cited by 8
‘Cut from the same cloth’: Shared microsatellite variants among cancers link to ectodermal tissues-neural tube and crest cells
Karunasena, E., McIver, L. J., Bavarva, J. H., Wu, X., Zhu, H., & Garner, H. R. (2015) · Oncotarget · doi:10.18632/oncotarget.4194 · Cited by 8
The deoxyribose phosphate lyase of DNA polymerase β suppresses a processive DNA synthesis to prevent trinucleotide repeat instability
Lai, Y., Weizmann, Y., & Liu, Y. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky700 · Cited by 8
Epigenetic editing for autosomal dominant neurological disorders
Waldo, J. J., Halmai, J. A. N. M., & Fink, K. D. (2024) · Frontiers in Genome Editing · doi:10.3389/fgeed.2024.1304110 · Cited by 8
Multifaceted nucleic acid probing with a rationally upgraded molecular rotor
Kha, T., Shi, Q., Pandya, N., & Zhu, R. (2024) · Chemical Science · doi:10.1039/d4sc00141a · Cited by 8
Microsatellite break-induced replication generates highly mutagenized extrachromosomal circular DNAs
Gadgil, R. Y., Rider, S. D., Shrestha, R., Alhawach, V., Hitch, D. C., & Leffak, M. (2024) · NAR Cancer · doi:10.1093/narcan/zcae027 · Cited by 8
Aging, longevity and health
Rasmussen, L. J., Sander, M., Wewer, U. M., & Bohr, V. A. (2011) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2011.07.004 · Cited by 8
Differential repair enzyme-substrate selection within dynamic DNA energy landscapes
Völker, J., & Breslauer, K. J. (2021) · Quarterly Reviews of Biophysics · doi:10.1017/s0033583521000093 · Cited by 8
Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia
Balakrishnan, S., Aggarwal, S., Muthulakshmi, M., Meena, A. K., Borgohain, R., Kandadai, R. M., Yareeda, S., Ranganath, P., & Dalal, A. B. (2022) · Neurology India · doi:10.4103/0028-3886.349660 · Cited by 8
Cleidocranial dysplasia: Clinical overview and genetic considerations
Hassan, N. M. M., Dhillon, A., & Huang, B. (2016) · Pediatric Dental Journal · doi:10.1016/j.pdj.2016.04.001 · Cited by 8
Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development
Hsia, G. S. P., Musso, C. M., Alvizi, L., Brito, L. A., Kobayashi, G. S., Pavanello, R. C. M., Zatz, M., Gardham, A., Wakeling, E. L., Zechi‐Ceide, R. M., et al. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00149 · Cited by 9
Role of DNA methylation in genome stability
Kovalchuk, I. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-85679-9.00023-4 · Cited by 8
341 Repeats Is Not Enough for Methylation in a New Fragile X Mouse Model
Colvin, S. M., Lea, N., Zhang, Q., Wienisch, M., Kaiser, T., Aida, T., & Feng, G. (2022) · eNeuro · doi:10.1523/eneuro.0142-22.2022 · Cited by 9
Differential efficacies of Cas nucleases on microsatellites involved in human disorders and associated off-target mutations
Poggi, L., Emmenegger, L., Descorps‐Declère, S., Dumas, B., & Richard, G. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab569 · Cited by 8
Genetic testing: predictive value of genotyping for diagnosis and management of disease
Özgüç, M. (2011) · The EPMA Journal · doi:10.1007/s13167-011-0077-y · Cited by 7
FAM171B is a novel polyglutamine protein widely expressed in the mammalian brain
Tran, Q., Sudasinghe, A. K., Jones, B., Xiong, K., Cohen, R. E., Sharlin, D. S., Hartert, K. T., & Goellner, G. M. (2021) · Brain Research · doi:10.1016/j.brainres.2021.147540 · Cited by 7
Strong positive cooperativity in binding to the A3T3 repeat by Hoechst 33258 derivatives attaching the quinoline units at the end of a branched linker
Koda, H., Brazier, J. A., Onishi, I., & Sasaki, S. (2015) · Bioorganic & Medicinal Chemistry · doi:10.1016/j.bmc.2015.05.056 · Cited by 7
The 26S proteasome drives trinucleotide repeat expansions
Concannon, C., & Lahue, R. S. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt295 · Cited by 7
Maternal FMR1 premutation allele expansion and contraction in fraternal twins
Alfaro, M. P., COHEN, M. P., & Vnencak‐Jones, C. L. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36123 · Cited by 7
Chromatin Modifiers Alter Recombination Between Divergent DNA Sequences
Chakraborty, U., Mackenroth, B., Shalloway, D. I., & Alani, E. (2019) · Genetics · doi:10.1534/genetics.119.302395 · Cited by 7
The features of polyglutamine regions depend on their evolutionary stability
Mier, P., & Andrade-Navarro, M. A. (2020) · BMC Evolutionary Biology · doi:10.1186/s12862-020-01626-3 · Cited by 7
Trinucleotide Repeat Disorders
Ramakrishnan, S., & Gupta, V. (2021) · StatPearls · Cited by 7
The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion
Stevanoni, M., Palumbo, E., & Russo, A. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006201 · Cited by 7
Problems and solutions for the analysis of somatic CAG repeat expansion and their relationship to Huntington's disease toxicity
Budworth, H., & McMurray, C. T. (2016) · Rare Diseases · doi:10.1080/21675511.2015.1131885 · Cited by 6
Self-citation
The shaping of a molecular linguist: How a career studying DNA energetics revealed the language of molecular communication
Breslauer, K. J. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100522 · Cited by 6
Strand-specific effect of Rad26 and TFIIS in rescuing transcriptional arrest by CAG trinucleotide repeat slip-outs
Xu, J., Chong, J. P. C., & Wang, D. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab573 · Cited by 6
A small unstructured nucleic acid disrupts a trinucleotide repeat hairpin
Figueroa, A. A., Cattie, D. J., & Delaney, S. (2011) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2011.08.130 · Cited by 7
The genome-wide landscape of small insertion and deletion mutations in Monopterus albus
Chen, F., Lai, F., Luo, M., Han, Y., Cheng, H., & Zhou, R. (2019) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2019.02.002 · Cited by 6
Role of telomere shortening in anticipation of inflammatory bowel disease
Truta, B., Wohler, E., Sobreira, N. L. D. M., Datta, L. W., & Brant, S. R. (2020) · World Journal of Gastrointestinal Pharmacology and Therapeutics · doi:10.4292/wjgpt.v11.i4.69 · Cited by 6
An oxidized abasic lesion inhibits base excision repair leading to DNA strand breaks in a trinucleotide repeat tract
Beaver, J. M., Lai, Y., Rolle, S. J., Weng, L., Greenberg, M. M., & Liu, Y. (2018) · PLoS ONE · doi:10.1371/journal.pone.0192148 · Cited by 6
Repurposing Oseltamivir Against C A G Repeat Mediated Toxicity in Huntington’s Disease and Spinocerebellar Ataxia Using Cellular and Drosophila Model
Singh, K. P., Gupta, K., Shukla, S., Kumari, A., & Kumar, A. (2025) · ACS Omega · doi:10.1021/acsomega.4c10338 · Cited by 5
Mining large-scale repetitive sequences in a MapReduce setting
Cao, H., Phinney, M. A., Petersohn, D., Merideth, B. R., & Shyu, C. R. (2016) · International Journal of Data Mining and Bioinformatics · doi:10.1504/ijdmb.2016.074873 · Cited by 5
Identification of Novel Microsatellite Markers <1 Mb from the HTT CAG Repeat and Development of a Single-Tube Tridecaplex PCR Panel of Highly Polymorphic Markers for Preimplantation Genetic Diagnosis of Huntington Disease
Zhao, M., Chen, M., Lee, C. G. L., & Chong, S. S. (2016) · Clinical Chemistry · doi:10.1373/clinchem.2016.255711 · Cited by 5
Effects of Molecular Crowding on Structures and Functions of Nucleic Acids
Endoh, T., Tateishi‐Karimata, H., & Sugimoto, N. (2023) · Springer eBooks · doi:10.1007/978-981-19-9776-1_40 · Cited by 5
A study of CAG repeat instability of HTT gene following spermatogenesis, by single sperm analysis
Jamali, Z., Dianatpour, M., Miryounesi, M., & Modarressi, M. H. (2018) · Gene Reports · doi:10.1016/j.genrep.2018.07.013 · Cited by 5
A novel naphthyridine tetramer that recognizes tandem G–G mismatches by the formation of an interhelical complex
Lu, Y., Dohno, C., & Nakatani, K. (2019) · Chemical Communications · doi:10.1039/c9cc08111a · Cited by 5
Repeat expansion disorders
Srinivasan, S. R., de Gusmão, C. M., Korecka, J. A., & Khurana, V. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-85654-6.00048-4 · Cited by 6
Pyrrole–Imidazole Polyamides – A Frontrunner in Nucleic Acid‐Based Small Molecule Drugs
Vaijayanthi, T., Pandian, G. N., & Sugiyama, H. (2023) · Advanced Therapeutics · doi:10.1002/adtp.202300022 · Cited by 5
A new small molecule DoNA binding to CAG repeat RNA
Chen, Q., Yamada, T., Miyagawa, K., Murata, A., Shoji, M., & Nakatani, K. (2023) · Bioorganic & Medicinal Chemistry · doi:10.1016/j.bmc.2023.117580 · Cited by 5
Modulation of trinucleotide repeat instability by DNA polymerase β polymorphic variant R137Q
Ren, Y., Lai, Y., Laverde, E. E., Lei, R., Rein, H. L., & Liu, Y. (2017) · PLoS ONE · doi:10.1371/journal.pone.0177299 · Cited by 5
Time-resolved FRET screening identifies small molecular modifiers of mutant Huntingtin conformational inflexibility in patient-derived cells
Wilbertz, J. H., Frappier, J., Muller, S., Gratzer, S., Englaro, W., Stanek, L. M., & Calamini, B. (2022) · SLAS DISCOVERY · doi:10.1016/j.slasd.2021.10.005 · Cited by 5
Discovery and Quality Analysis of a Comprehensive Set of Structural Variants and Short Tandem RepeatsPreprint
Jakubosky, D. A., Smith, E. N., D’Antonio, M., Bonder, M. J., Greenwald, W. W. Y., D’Antonio‐Chronowska, A., Matsui, H., Stegle, O., Montgomery, S. B., DeBoever, C., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/713198 · Cited by 5
Spatially coordinated heterochromatinization of distal short tandem repeats in fragile X syndromePreprint
Zhou, L., Ge, C., Malachowski, T., Kim, J. H., Chandradoss, K. R., Chuanbin, S., Wu, H., Rojas, L. A., Wallace, O. B., Titus, K. R., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.04.23.441217 · Cited by 5
Tandem MutSβ binding to long extruded DNA trinucleotide repeats underpins pathogenic expansionsPreprint
Li, J., Wang, H., & Yang, W. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.12.12.571350 · Cited by 5
Base excision repair within structure-forming repeat sequences and its impact on cancer and other diseases
Cohen, C., Coombes, M. C., Merlo, C., Kontor, C. A., Meah, R., & Whitaker, A. M. (2025) · NAR Cancer · doi:10.1093/narcan/zcaf051 · Cited by 4
Performance Comparison Between Deep Neural Network and Machine Learning Based Classifiers for Huntington Disease Prediction From Human DNA Sequence
Vishnuppriya, C., & Tamilpavai, G. (2024) · IEEE Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbb.2024.3493203 · Cited by 4
Tissue-dependent regulation of RNAP II dynamics
Goula, A.-V., Festenstein, R., & Mérienne, K. (2013) · Transcription · doi:10.4161/trns.25971 · Cited by 4
Application of the Burrows-Wheeler Transform for Searching for Approximate Tandem Repeats
Danek, A., Pokrzywa, R., Makałowska, I., & Polański, A. (2012) · Lecture notes in computer science · doi:10.1007/978-3-642-34123-6_23 · Cited by 4
A Selective Alkylating Agent for CTG Repeats in Myotonic Dystrophy Type 1
Lee, J., Li, K., & Zimmerman, S. C. (2022) · ACS Chemical Biology · doi:10.1021/acschembio.1c00949 · Cited by 4
MRSMRS: Mining repetitive sequences in a MapReduce setting
Cao, H., Phinney, M. A., Petersohn, D., Merideth, B. R., & Shyu, C. (2014) · IEEE International Conference on Bioinformatics and Biomedicine (BIBM) · doi:10.1109/bibm.2014.6999201 · Cited by 4
Expansion of CAG Repeats in Escherichia coli Is Controlled by Single-Strand DNA Exonucleases of Both Polarities
Jackson, A., Okely, E. A., & Leach, D. R. F. (2014) · Genetics · doi:10.1534/genetics.114.168245 · Cited by 5
A Study on Triplet Repeat Expansion Disorders in Western Indian Population
F, S. J. S. (2015) · Hereditary Genetics · doi:10.4172/2161-1041.1000141 · Cited by 4
Microsatellite Instability
Schlötterer, C. (2021) · Wiley eBooks · doi:10.1002/9780470015902.a0029309 · Cited by 5
Genetics
Vnencak‐Jones, C. L., & Best, D. H. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-816061-9.00006-0 · Cited by 3
Genetics of Ataxias: Hereditary Forms
Tirada, N. P., & Levy, L. M. (2013) · American Journal of Neuroradiology · doi:10.3174/ajnr.a3783 · Cited by 3
Experimenting with Trinucleotide Repeats: Facts and Technical Issues
Richard, G. (2019) · Methods in molecular biology · doi:10.1007/978-1-4939-9784-8_1 · Cited by 3
Establishment of FXS-A9 panel with a single human X chromosome from fragile X syndrome-associated individual
Nakayama, Y., Adachi, K., Shioda, N., Maeta, S., Nanba, E., & Kugoh, H. (2020) · Experimental Cell Research · doi:10.1016/j.yexcr.2020.112419 · Cited by 4
Selectively recognizing extrahelical conformations of DNA trinucleotide repeats by a hydroxylated porphyrin ligand
Zhang, Q., Gao, H., Yan, C., Yang, T., Zheng, X., Xu, Q., Wang, D., Zhou, X., & Shao, Y. (2021) · Analytica Chimica Acta · doi:10.1016/j.aca.2021.339265 · Cited by 3
Unraveling the role of relative telomere length and CAG expansion on initial symptoms of juvenile Huntington disease
PerezGrovas‐Saltijeral, A., Ochoa, A., Jara‐Prado, A., Velázquez‐Cruz, R., Rivera‐Paredez, B., de Montellano, D. J. D., Benitez-Alonso, E. O., Santamaría‐Olmedo, M., Sevilla‐Montoya, R., Marfil‐Marín, E., et al. (2022) · European Journal of Neurology · doi:10.1111/ene.15644 · Cited by 3
Nonparametric modeling and analysis of association between Huntington's disease onset and CAG repeats
Yanyuan Ma, B., & Wang, Y. (2013) · Statistics in Medicine · doi:10.1002/sim.5971 · Cited by 3
Finding Approximate Tandem Repeats With The Burrows-Wheeler Transform
Danek, A., & Pokrzywa, R. (2012) · doi:10.5281/zenodo.1055358 · Cited by 3
AuNP-CTG based probing system targeting CAG repeat DNA and RNA sequences
Le, B. H., Joo, H. N., Hwang, D. W., Kim, K. W., & Seo, Y. J. (2017) · Bioorganic & Medicinal Chemistry Letters · doi:10.1016/j.bmcl.2017.06.067 · Cited by 3
Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington’s disease
Cho, I. K., Easley, C. A., & Chan, A. W. S. (2022) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-022-02594-x · Cited by 3
Gene–Environment Interactions in Repeat Expansion Diseases: Mechanisms of Environmentally Induced Repeat Instability
Calluori, S., Stark, R., & Pearson, B. L. (2023) · Biomedicines · doi:10.3390/biomedicines11020515 · Cited by 3
Genome Instability of Repetitive Sequence: Lesson from the Ribosomal RNA Gene Repeat
Kobayashi, T. (2016) · Springer eBooks · doi:10.1007/978-4-431-55873-6_10 · Cited by 3
Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otterPreprint
Tesi, N., Salazar, A., Zhang, Y., van der Lee, S. J., Hulsman, M., Knoop, L., Wijesekera, S., Křížová, J., Schneider, A.-F. E., Pennings, M., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.03.15.585288 · Cited by 4
A human CAGinSTEM platform for decoding HTT repeats’ somatic instability links CAG interruption to HD pathology in neurons
Zobel, M., Damaggio, G., Mignogna, M. L., Besusso, D., Scalzo, D., Cossu, A., Trovesi, C., Crosti, M., Cortina, F., Campus, I., et al. (2025) · Cell Reports · doi:10.1016/j.celrep.2025.116685 · Cited by 3
REV1 inhibition enhances trinucleotide repeat mutagenesis
Siegel, A., Almstead, D., Kothandaraman, N., Reich, J., Lamkin, E. N., Victor, J., Grover, A., Ikeh, K., Koval, H., Crompton, A., et al. (2025) · Open Biology · doi:10.1098/rsob.250234 · Cited by 2
Effects of Molecular Crowding on Structures and Functions of Nucleic Acids
Endoh, T., Tateishi‐Karimata, H., & Sugimoto, N. (2023) · Springer eBooks · doi:10.1007/978-981-16-1313-5_40-1 · Cited by 2
3D epigenomics and 3D epigenopathies
Lee, K., Kim, J. W., & Kim, J. H. (2024) · BMB Reports · doi:10.5483/bmbrep.2023-0249 · Cited by 3
Evolutionary perspective of the CAG/CAA interplay coding for pure polyglutamine stretches in proteins
Moreno-Rodríguez, A., Pérez‐Pulido, A. J., & Mier, P. (2025) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqaf075 · Cited by 2
Post-Zygotic and Inter-Individual Structural Genetic Variation in a Presumptive Enhancer Element of the Locus between the IL10Rβ and IFNAR1 Genes
Razzaghian, H. R., Forsberg, L. A., Prakash, K. R., Przerada, S., Paprocka, H., Żywicka, A., Westerman, M. P., Pedersen, N. L., OʼHanlon, T. P., Rider, L. G., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0067752 · Cited by 2
Premutation huntingtin allele adopts a non-B conformation and contains a hot spot for DNA damage
Jarem, D. A., & Delaney, S. (2011) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2011.11.013 · Cited by 4
Two different genetic diseases in the same patient: Coincident, concomitant, or causally related?
Gräf, J., Hellenbroich, Y., Veelken, N., Figueroa, K. P., Wolff, S., Pulst, S. M., & Brüggemann, N. (2016) · Movement Disorders · doi:10.1002/mds.26539 · Cited by 2
Fragile X Syndrome: A Disorder of Synaptic Protein Synthesis Dynamics
Muddashetty, R. S., Nalavadi, V., & Bassell, G. J. (2012) · Journal of the Indian Institute of Science · Cited by 2
Mini- and Micro-Satellite Markers in Health, Disease and Evolution
Galani, V., Markoula, S., Lazaros, L. A., Ladias, P., & Georgiou, I. A. (2015) · Springer eBooks · doi:10.1007/978-1-4939-3070-8_7 · Cited by 2
Contraction of a Maternal Fragile X Mental Retardation 1 Premutation Allele
Miranda, P., Jiraanont, P., Abrams, L. J., Basuta, K., Youngblom, J. H., Schneider, A. K., Hagerman, R. J., & Tassone, F. (2015) · Journal of Medical Cases · doi:10.14740/jmc2301w · Cited by 2
Genetic Mechanisms of Memory Disorders (Excluding Alzheimer's Disease)
Kaas, G. A., Hawkins, K. E., & Sweatt, J. D. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-809324-5.21125-5 · Cited by 3
Torsional stress promotes trinucleotidic expansion in spermatids
Simard, O., Niavarani, S.-R., Gaudreault, V., & Boissonneault, G. (2017) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2017.04.001 · Cited by 2
DNA trinucleotide (GAA) repeats in human genome: hint for disease pathogenesis?
Singh, H. N., Scheiber‐Mojdehkar, B., & Rajeswari, M. R. (2017) · Journal of Biomolecular Structure and Dynamics · doi:10.1080/07391102.2017.1341336 · Cited by 2
Erratum: Mechanisms of trinucleotide repeat instability during human development
McMurray, C. T. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2917 · Cited by 2
Self-citation
Gene editing for HD: Therapeutic prospects
Chen, R. Z., & Vogt, T. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95672-7.00021-2 · Cited by 2
DNASCANNER v2: A Web-Based Tool to Analyze the Characteristic Properties of Nucleotide Sequences
Preeti, P., Riyaz, A., Choudhury, A., Choudhury, P. R., Pradhan, N., Singh, A., Nakul, M., Dudeja, C., Yadav, A., Nath, S. K., et al. (2024) · Journal of Computational Biology · doi:10.1089/cmb.2023.0227 · Cited by 1
DRED: A Comprehensive Database of Genes Related to Repeat Expansion Diseases
Shi, Q., Dai, M., Ma, Y., Liu, J., Liu, X., & Wang, X. (2024) · Genomics Proteomics & Bioinformatics · doi:10.1093/gpbjnl/qzae068 · Cited by 1
Slippage reconfiguration of trinucleotide repeat hairpins impedes resolution by human replication protein A
Kuang, Y.-C., Chen, S.-W., Chang, H.-Y., Ni, C.-W., Chi, P., & Lee, I. (2026) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2526355123 · Cited by 1
Therapeutic Strategies Targeting the Molecular Pathogenesis of Myotonic Dystrophy Type 1: Current Status and Future Directions
Chahine, M., Ginjupalli, V. K. M., Jauvin, D., & Boutjdir, M. (2026) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-026-00848-3 · Cited by 1
Functional Consequences of Variable Tandem Repeats within the Yeast Cyc8 Transcriptional Regulator
Bio-ingenieurswetenschappen, F. (2012) · Cited by 1
COMPUTATIONAL ANALYSIS OF THE SIMPLE SEQUENCE REPEATS IN MUCIN-6 OF FOVEOLAR CELLS
Tee, S.-H. (2013) · Cited by 1
Molecular and Genetic Therapies
Narayanaswami, P., & Živković, S. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-71317-7.00011-1 · Cited by 1
Mitochondrial Dysfunction in Brain and Muscle Pathology of Huntington’s Disease
Rivera, S., McMurray, C. T., & Ayala‐Peña, S. (2014) · Springer eBooks · doi:10.1007/978-3-642-30018-9_133 · Cited by 1
Self-citation
A study of the impact of DNA helical rise on protein-DNA interaction
Pedone, F., Mazzei, F., & Santoni, D. (2018) · Genomics · doi:10.1016/j.ygeno.2018.11.009 · Cited by 1
Methods to Study Trinucleotide Repeat Instability Induced by DNA Damage and Repair
Lai, Y., Lei, R., Ren, Y., & Liu, Y. (2019) · Methods in molecular biology · doi:10.1007/978-1-4939-9500-4_5 · Cited by 1
Quantifying Replication Fork Progression at CTG Repeats by 2D Gel Electrophoresis
Viterbo, D., & Richard, G. (2019) · Methods in molecular biology · doi:10.1007/978-1-4939-9784-8_4 · Cited by 1
Mechanisms of Mutation
Strauss, B. S. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-800892-8.00001-4 · Cited by 1
Somatic mosaicism in inherited bone marrow failure and chromosomal instability syndrome
Biswas, P., & Verma, R. S. (2021) · Genome Instability & Disease · doi:10.1007/s42764-021-00041-2 · Cited by 1
Expansion of human disease causing triplet repeats in vertebrate genomes: an evolutionary perspective
Murthy, S., & Mishra, R. K. (2025) · Proceedings of the Indian National Science Academy · doi:10.1007/s43538-025-00578-w · Cited by 1
Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVASPreprint
Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/597781 · Cited by 1
MASTR-seq: Multiplexed Analysis of Short Tandem Repeats with sequencingPreprint
Chuanbin, S., Chandradoss, K. R., Malachowski, T., Boya, R., Ryu, H.-S., Brennand, K., & Phillips‐Cremins, J. E. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.04.29.591790 · Cited by 1
Gene editing approaches of microsatellite disorders : shortening expanded repeats
Poggi, L. (2020) · theses.fr (ABES) · doi:10.70675/741f0470z28a0z4c3bz9e75ze578bdc49074 · Cited by 1
IDENTIFICATION OF ACTIVITIES INVOLVED IN CAG/CTG REPEAT INSTABILITY
Chan, N. L. S. (2011) · UKnowledge (University of Kentucky)

Authors: McMurray, C. T.
Affiliations: Lawrence Berkeley National Laboratory (US)
Corresponding author: McMurray, Cynthia T.
ORCID: McMurray, Cynthia T.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2010-10-18
Volume: 11
Issue: 11
Pages: 786-799
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg2828
PMC: PMC3175376
OpenAlex: W1970814720
Cited by: 496
References: 129
Citations by year: 2026: 12 · 2025: 18 · 2024: 30 · 2023: 23 · 2022: 21 · 2021: 29 · 2020: 28 · 2019: 35 · 2018: 41 · 2017: 31 · 2016: 41 · 2015: 38 · 2014: 28 · 2013: 48 · 2012: 42
FWCI: 3.33
Type: journal article
Language: en
Update notices: erratum (2010-11-10)
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health
National Cancer Institute (CA-092584, P01CA092584)
National Institute of General Medical Sciences (GM 066359, R01GM066359)
National Institute of Neurological Disorders and Stroke (NS069177, RC1NS069177, R01NS040738, R01NS060115, R01NS062384, NS 40738, NS060115, NS062384)
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 › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: trinucleotide repeat expansion, repeat instability, human development, DNA repair, DNA replication, model organisms, trinucleotide repeat disorders
MeSH terms: Animals, Female, Humans, Human Development, Male, Models, Biological, Saccharomyces cerevisiae, Spermatogonia, Trinucleotide Repeats, Trinucleotide Repeat Expansion, Chromosomal Instability, Growth and Development, Mice

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Mechanisms of trinucleotide repeat instability during human development

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks