Mechanisms of trinucleotide repeat instability during human development

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

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The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase η

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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

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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

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm

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OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

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Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

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Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

MANLEY, K. M., Shirley, T. L., Flaherty, L. A., & Messer, A. C. (1999) · Nature Genetics · doi:10.1038/70598 · Cited by 415

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse

Wheeler, V. C. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.1.115 · Cited by 395

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

Kennedy, L. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg352 · Cited by 384

Replication slippage involves DNA polymerase pausing and dissociation

Viguera, E., Canceill, D., & Ehrlich, S. D. (2001) · The EMBO Journal · doi:10.1093/emboj/20.10.2587 · Cited by 355

Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli

Kang, S., Jaworski, A., Ohshima, K., & Wells, R. D. (1995) · Nature Genetics · doi:10.1038/ng0695-213 · Cited by 355

Repair of Oxidized Bases in DNA Bubble Structures by Human DNA Glycosylases NEIL1 and NEIL2

Hong, D., MITRA, S. P., & Hazra, T. K. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m308658200 · Cited by 344

Trinucleotide repeats affect DNA replication in vivo

Samadashwily, G., Raca, G., & Mirkin, S. (1997) · Nature Genetics · doi:10.1038/ng1197-298 · Cited by 343

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

Swami, M., Hendricks, A. E., Gillis, T., Massood, T., Mysore, J. S., Myers, R. H., & Wheeler, V. C. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp242 · Cited by 330

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation

Mangiarini, L., Sathasivam, K., Mahal, A., Mott, R., Seller, M. J., & Bates, G. P. (1997) · Nature Genetics · doi:10.1038/ng0297-197 · Cited by 318

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.

van den Broek, W. J., Nelen, M., Wansink, D. G., Coerwinkel, M., Riele, H. T., Groenen, P., & Wieringa, B. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.2.191 · Cited by 309

The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm

Reyniers, E., Vits, L., Boulle, K. D., Roy, B. V., van Velzen, D., de Graaff, E., Verkerk, A. J. M. H., Jorens, H. Z. J., Darby, J. K., Oostra, B. A., et al. (1993) · Nature Genetics · doi:10.1038/ng0693-143 · Cited by 303

Coordination of dual incision and repair synthesis in human nucleotide excision repair

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Trinucleotide expansion in haploid germ cells by gap repair

Kovtun, I. V., & McMurray, C. T. (2001) · Nature Genetics · doi:10.1038/86906 · Cited by 276

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

Dragileva, E., Hendricks, A. E., Teed, A. M., Gillis, T., Lopez, E., Friedberg, E. C., Kucherlapati, R., Edelmann, W., Lunetta, K. L., MacDonald, M. E., et al. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.09.014 · Cited by 247

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects

Goldberg, Y. P., Kremer, B. P. H., Andrew, S. E., Theilmann, J., Graham, R. K., Squitieri, F., Telenius, H., Adam, S., Sajoo, A., Starr, E. M., et al. (1993) · Nature Genetics · doi:10.1038/ng1093-174 · Cited by 246

PCNA ubiquitination and REV1 define temporally distinct mechanisms for controlling translesion synthesis in the avian cell line DT40

Edmunds, C. E., Simpson, L. J., & Sale, J. E. (2008) · Molecular Cell · doi:10.1016/j.molcel.2008.03.024 · Cited by 239

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

Lavedan, C. N., Hofmann-Radvanyi, H., Shelbourne, P., Rabès, J., Duros, C., Savoy, D., Dehaupas, I., Luce, S., Johnson, K. J., & Junien, C. (1993) · Europe PMC (PubMed Central) · Cited by 235

A Back-up Glycosylase in Nth1 Knock-out Mice Is a Functional Nei (Endonuclease VIII) Homologue

Takao, M., Kanno, S., Kobayashi, K., Zhang, Q.-M., Yonei, S., van der Horst, G. T. J., & Yasui, A. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m206884200 · Cited by 226

DNA instability in postmitotic neurons

Gonitel, R., Moffitt, H., Sathasivam, K., Woodman, B., Detloff, P., Faull, R., & Bates, G. (2008) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.0800048105 · Cited by 225

Recognition of RNA Polymerase II and Transcription Bubbles by XPG, CSB, and TFIIH: Insights for Transcription-Coupled Repair and Cockayne Syndrome

Sarker, A. H., Tsutakawa, S. E., Kostek, S. A., Ng, C., Shin, D. S., Peris, M., Campeau, E., Tainer, J. A., Nogales, E., & Cooper, P. K. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.09.022 · Cited by 224

(CAG)n-hairpin DNA binds to Msh2–Msh3 and changes properties of mismatch recognition

Owen, B. A. L., Yang, Z., Lai, M., Gajek, M., Badger, J. D., Hayes, J. J., Edelmann, W., Kucherlapati, R., Wilson, T., & McMurray, C. T. (2005) · Nature Structural & Molecular Biology · doi:10.1038/nsmb965 · Cited by 222

Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain

Shelbourne, P., Keller-McGandy, C. E., Bi, W. L., Yoon, S., Dubeau, L., Veitch, N., Vonsattel, J. P., Wexler, N. S., Arnheim, N., & Augood, S. J. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm054 · Cited by 219

CTG repeat instability and size variation timing in DNA repair‐deficient mice

Savouret, C., Brisson, E., Essers, J., Kanaar, R., Pastink, A., Riele, H. T., Junien, C., & Gourdon, G. (2003) · EMBO Journal · doi:10.1093/emboj/cdg202 · Cited by 215

Triplet repeats form secondary structures that escape DNA repair in yeast

Moore, H., Greenwell, P. W., Liu, C.-P., Arnheim, N., & Petes, T. D. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.4.1504 · Cited by 211

Replication Stalling at Friedreich's Ataxia (GAA)n Repeats In Vivo

Krasilnikova, M. M., & Mirkin, S. M. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.6.2286-2295.2004 · Cited by 207

Human MutY Homolog, a DNA Glycosylase Involved in Base Excision Repair, Physically and Functionally Interacts with Mismatch Repair Proteins Human MutS Homolog 2/Human MutS Homolog 6

Gu, Y., Parker, A. R., Wilson, T., Bai, H., Chang, D., & Lu, A.-L. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m108618200 · Cited by 206

Evolving Views of DNA Replication (In)FidelityPreprint

Kunkel, T. A. (2009) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2009.74.027 · Cited by 206

The GAATTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner

Grabczyk, E. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.14.2815 · Cited by 203

Molecular analysis of juvenile Huntington disease: the major influence on (CAG) n repeat length is the sex of the affected parent

Telenius, H., Kremer, H., Thellmann, J., Andrew, S. E., Almqvist, E. W., Anvret, M., Greenberg, C. R., Greenberg, J., Lucotte, G., Squltierl, F., et al. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.10.1535 · Cited by 203

Pms2 is a genetic enhancer of trinucleotide CAG{middle dot}CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

Gomes-Pereira, M. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh186 · Cited by 201

Characterization of the full fragile X syndrome mutation in fetal gametes

Malter, H. E., Iber, J. C., Willemsen, R., Graaff, E. D., Tarleton, J. C., Leisti, J., Warren, S. T., & Oostra, B. A. (1997) · Nature Genetics · doi:10.1038/ng0297-165 · Cited by 197

Meiotic cell cycle arrest in mammalian oocytes

Tripathi, A., Kumar, K. V. P., & Chaube, S. K. (2010) · Journal of Cellular Physiology · doi:10.1002/jcp.22108 · Cited by 191

RNA pathogenesis of the myotonic dystrophies

Day, J., & Ranum, L. P. W. (2004) · Neuromuscular Disorders · doi:10.1016/j.nmd.2004.09.012 · Cited by 190

Pausing of DNA Synthesis in Vitro at Specific Loci in CTG and CGG Triplet Repeats from Human Hereditary Disease Genes

Kang, S., Ohshima, K., Shimizu, M., Amirhaeri, S., & Wells, R. D. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.45.27014 · Cited by 184

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model

Entezam, A., Biacsi, R. E., Orrison, B. M., Saha, T., Hoffman, G. E., Grabczyk, E., Nussbaum, R. L., & Usdin, K. (2007) · Gene · doi:10.1016/j.gene.2007.02.026 · Cited by 184

Inhibition of FEN-1 Processing by DNA Secondary Structure at Trinucleotide Repeats

Spiro, C., Pelletier, R., Rolfsmeier, M. L., Dixon, M. J., Lahue, R. S., Gupta, G., Park, M. S., Chen, X., Mariappan, S. V. S., & McMurray, C. T. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80236-1 · Cited by 177

Transcription promotes contraction of CAG repeat tracts in human cells

Lin, Y., Dion, V., & Wilson, J. H. (2006) · Nature Structural &Molecular Biology · doi:10.1038/nsmb1042 · Cited by 169

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

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Slipped (CTG)•(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair

Panigrahi, G., Lau, R., Montgomery, S., Leonard, M. R., & Pearson, C. E. (2005) · Nature Structural &Molecular Biology · doi:10.1038/nsmb959 · Cited by 159

Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.

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Stoichiometry of Base Excision Repair Proteins Correlates with Increased Somatic CAG Instability in Striatum over Cerebellum in Huntington's Disease Transgenic Mice

Goula, A.-V., Berquist, B. R., Wilson, D. M., Wheeler, V. C., Trottier, Y., & Mérienne, K. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000749 · Cited by 152

Direct restart of a replication fork stalled by a head-on RNA polymerase

Pomerantz, R. T., & O’Donnell, M. (2010) · Science · doi:10.1126/science.1179595 · Cited by 150

CTCF binding sites promote transcription initiation and prevent DNA methylation on the maternal allele at the imprinted H19/Igf2 locus

Engel, N., Thorvaldsen, J. L., & Bartolomei, M. S. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl237 · Cited by 148

Y-family DNA polymerases in mammalian cells

Guo, C., Kosarek, J. N., Tang, T.-S., & Friedberg, E. C. (2009) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-009-0024-4 · Cited by 147

Factors associated with HD CAG repeat instability in Huntington disease

Wheeler, V. C., Persichetti, F., McNeil, S. M., Mysore, J. S., Mysore, S. S., MacDonald, M. E., Myers, R. H., Gusella, J. F., & Wexler, N. S. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.050930 · Cited by 146

Unequal crossingover between homologous chromosomes is not the major mechanism involved in the generation of new alleles at VNTR loci

Wolff, R. K. (1989) · Genomics · doi:10.1016/0888-7543(89)90076-1 · Cited by 145

Instability of a (CGG)98 repeat in the Fmr1 promoter

Bontekoe, C. J. M. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.16.1693 · Cited by 143

Features of trinucleotide repeat instability in vivo

Kovtun, I. V., & McMurray, C. T. (2008) · Cell Research · doi:10.1038/cr.2008.5 · Cited by 142

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability

Fortune, M. T. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.3.439 · Cited by 141

Large-Scale Expansions of Friedreich's Ataxia GAA Repeats in Yeast

Shishkin, A. A., Voineagu, I., Matera, R. M., Cherng, N., Chernet, B. T., Krasilnikova, M. M., Narayanan, V., Lobachev, K. S., & Mirkin, S. M. (2009) · Molecular Cell · doi:10.1016/j.molcel.2009.06.017 · Cited by 138

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.

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CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination

Libby, R. T., Hagerman, K. A., Pineda, V. V., Lau, R., Cho, D. H., Baccam, S. L., Axford, M. M., Cleary, J. D., Moore, J. M., Sopher, B. L., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000257 · Cited by 138

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy.

Ashizawa, T., Anvret, M., Baiget, M., Barceló, J. M., Brunner, H. G., Cobo, A. M., Dallapiccola, B., Fenwick, R. G., Grandell, U., & Harley, H. G. (1994) · PubMed Central · Cited by 137

CREB-Binding Protein Modulates Repeat Instability in a Drosophila Model for PolyQ Disease

Jung, J., & Bonini, N. M. (2007) · Science · doi:10.1126/science.1139517 · Cited by 133

Vertebrate POLQ and POLβ Cooperate in Base Excision Repair of Oxidative DNA Damage

Yoshimura, M., Kohzaki, M., Nakamura, J., Asagoshi, K., Sonoda, E., Hou, E. W., Prasad, R., Wilson, S. H., Tano, K., Yasui, A., et al. (2006) · Molecular Cell · doi:10.1016/j.molcel.2006.07.032 · Cited by 132

Paradoxical delay in the onset of disease caused by super-long CAG repeat expansions in R6/2 mice

Morton, A. J., Glynn, D., Leavens, W., Zheng, Z., Faull, R. L. M., Skepper, J. N., & Wight, J. M. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.11.015 · Cited by 126

Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility

Voineagu, I., Surka, C., Shishkin, A. A., Krasilnikova, M. M., & Mirkin, S. M. (2009) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1527 · Cited by 122

Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

Brock, G. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.6.1061 · Cited by 122

Analysis of Strand Slippage in DNA Polymerase Expansions of CAG/CTG Triplet Repeats Associated with Neurodegenerative Disease

Petruska, J. A., Hartenstine, M. J., & Goodman, M. F. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.9.5204 · Cited by 120

Transcription-Induced CAG Repeat Contraction in Human Cells Is Mediated in Part by Transcription-Coupled Nucleotide Excision Repair

Lin, Y., & Wilson, J. H. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.00739-07 · Cited by 120

Coordination between Polymerase β and FEN1 Can Modulate CAG Repeat Expansion

Liu, Y., Prasad, R., Beard, W. A., Hou, E. W., Horton, J. K., McMurray, C. T., & Wilson, S. H. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.050286 · Cited by 118

Cooperation of the Cockayne Syndrome Group B Protein and Poly(ADP-Ribose) Polymerase 1 in the Response to Oxidative Stress

Thorslund, T., von Kobbe, C., Harrigan, J. A., Indig, F. E., Christiansen, M., Stevnsner, T., & Bohr, V. A. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.17.7625-7636.2005 · Cited by 118

Instability and chromatin structure of expanded trinucleotide repeats

Dion, V., & Wilson, J. H. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.04.007 · Cited by 117

Cockayne syndrome B protein stimulates apurinic endonuclease 1 activity and protects against agents that introduce base excision repair intermediates

Wong, H., Müftüoğlu, M., Beck, G., Imam, S. Z., Bohr, V. A., & Wilson, D. M. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm404 · Cited by 117

MSH2 ATPase Domain Mutation Affects CTG•CAG Repeat Instability in Transgenic Mice

Tomé, S., Holt, I., Edelmann, W., Morris, G. E., Münnich, A., Pearson, C. E., & Gourdon, G. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000482 · Cited by 114

DNA repair in differentiated cells: Some new answers to old questions

Nouspikel, T. (2006) · Neuroscience · doi:10.1016/j.neuroscience.2006.07.006 · Cited by 109

DNA Polymerase λ Protects Mouse Fibroblasts against Oxidative DNA Damage and Is Recruited to Sites of DNA Damage/Repair

Braithwaite, E. K., Kedar, P. S., Lan, L., Polosina, Y. Y., Asagoshi, K., Poltoratsky, V. P., Horton, J. K., Miller, H., Teebor, G. W., Yasui, A., et al. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.c500256200 · Cited by 109

The efficiency and fidelity of 8-oxo-guanine bypass by DNA polymerases and

McCulloch, S. D., Kokoska, R. J., Garg, P., Burgers, P., & Kunkel, T. A. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp103 · Cited by 106

Increased trinucleotide repeat instability with advanced maternal age.

Kaytor, M., Burright, E., Duvick, L., Zoghbi, H., & Orr, H. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.12.2135 · Cited by 106

Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair

Kim, H., Narayanan, V., Mieczkowski, P. A., Petes, T. D., Krasilnikova, M. M., Mirkin, S. M., & Lobachev, K. S. (2008) · The EMBO Journal · doi:10.1038/emboj.2008.205 · Cited by 106

MSH2-Dependent Germinal CTG Repeat Expansions Are Produced Continuously in Spermatogonia from DM1 Transgenic Mice

Savouret, C., Cordier, C., Megret, J., Riele, H. T., Junien, C., & Gourdon, G. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.24.2.629-637.2004 · Cited by 105

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic [correction of amitotic] mutation mechanism [published erratum appears in Hum Mol Genet 1999 Apr;8(4):717]

Leeflang, E. P. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.2.173 · Cited by 104

Huntington disease expansion mutations in humans can occur before meiosis is completed

Yoon, S., Dubeau, L., de Young, M., Wexler, N. S., & Arnheim, N. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1331390100 · Cited by 104

Replication fork regression in repetitive DNAs

Fouché, N., Özgür, S., Roy, D., & Griffith, J. D. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl757 · Cited by 103

Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline

Dion, V., Lin, Y., Hubert, L., Waterland, R. A., & Wilson, J. H. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn019 · Cited by 95

Replication Inhibitors Modulate Instability of an Expanded Trinucleotide Repeat at the Myotonic Dystrophy Type 1 Disease Locus in Human Cells

Yang, Z., Lau, R., Marcadier, J. L., Chitayat, D. A., & Pearson, C. E. (2003) · The American Journal of Human Genetics · doi:10.1086/379523 · Cited by 86

Base Stacking and Even/Odd Behavior of Hairpin Loops in DNA Triplet Repeat Slippage and Expansion with DNA Polymerase

Hartenstine, M. J., Goodman, M. F., & Petruska, J. A. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.24.18382 · Cited by 83

Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates.

Gomes-Pereira, M., Fortune, M. T., & Monckton, D. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.8.845 · Cited by 83

A Universal Mechanism Ties Genotype to Phenotype in Trinucleotide Diseases

Kaplan, S., Itzkovitz, S., & Shapiro, E. Y. (2007) · PLoS Computational Biology · doi:10.1371/journal.pcbi.0030235 · Cited by 81

Intergenerational Instability of the Expanded CTG Repeat in the DMPK Gene: Studies in Human Gametes and Preimplantation Embryos

Temmerman, N. D., Sermon, K., Seneca, S., Rycke, M. D., Hilven, P., Lissens, W., Steirteghem, A. V., & Liebaers, I. (2004) · The American Journal of Human Genetics · doi:10.1086/422762 · Cited by 79

Hijacking of the mismatch repair system to cause CAG expansion and cell death in neurodegenerative disease

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Widespread distribution of DNA glycosylases removing oxidative DNA lesions in human and rodent brains

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