Expandable DNA repeats and human disease

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481 · see citing works

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

Spada, A. L., Wilson, E. M., Lubahn, D. B., Harding, A., & Fischbeck, K. (1991) · Nature · doi:10.1038/352077a0 · Cited by 2,801 · see citing works

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

Brook, J. D., McCurrach, M. E., Harley, H. G., Buckler, A., Church, D. M., Aburatani, H., Hunter, K. W., Stanton, V. P., Thirion, J., Hudson, T. J., et al. (1992) · Cell · doi:10.1016/0092-8674(92)90154-5 · Cited by 2,754 · see citing works

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

Mahadevan, M. S., Tsilfidis, C., Sabourin, L. A., Shutler, G., Amemiya, C. T., Jansen, G., Neville, C., Narang, M. A., Barceló, J. M., O'Hoy, K., et al. (1992) · Science · doi:10.1126/science.1546325 · Cited by 1,656 · see citing works

Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy

Miller, J. W., Urbinati, C. R., Teng‐umnuay, P., Stenberg, M. G., Byrne, B. J., Thornton, C. A., & Swanson, M. S. (2000) · The EMBO Journal · doi:10.1093/emboj/19.17.4439 · Cited by 937 · see citing works

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

Kremer, E., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., Warren, S., Schlessinger, D., Sutherland, G., & Richards, R. (1991) · Science · doi:10.1126/science.1675488 · Cited by 929 · see citing works

Repeat instability: mechanisms of dynamic mutations

Pearson, C. E., Edamura, K. N., & Cleary, J. D. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1689 · Cited by 924 · see citing works

Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic Dystrophy

Philips, A. V., Timchenko, L., & Cooper, T. A. (1998) · Science · doi:10.1126/science.280.5364.737 · Cited by 818 · see citing works

Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome

Tassone, F., Hagerman, R. J., Taylor, A. K., Gane, L. W., Godfrey, T. E., & Hagerman, P. J. (2000) · The American Journal of Human Genetics · doi:10.1086/302720 · Cited by 775 · see citing works

A Muscleblind Knockout Model for Myotonic Dystrophy

Kanadia, R. N., Johnstone, K. A., Mankodi, A., Lungu, C., Thornton, C. A., Esson, D., Timmers, A. M., Hauswirth, W. W., & Swanson, M. S. (2003) · Science · doi:10.1126/science.1088583 · Cited by 743 · see citing works

Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat

Mankodi, A. K., Logigian, E. L., Callahan, L. M., McClain, C., White, R. J., Henderson, D., Krym, M., & Thornton, C. A. (2000) · Science · doi:10.1126/science.289.5485.1769 · Cited by 738 · see citing works

Repeat instability : mechanisms of dynamic mutations

Pearson, C. E. (2005) · Medical Entomology and Zoology · Cited by 711 · see citing works

Trinucleotide repeats that expand in human disease form hairpin structures in vitro

Gacy, A. M., Goellner, G. M., Juranić, N., Macura, S. I., & McMurray, C. T. (1995) · Cell · doi:10.1016/0092-8674(95)90074-8 · Cited by 569 · see citing works

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

Sherman, S. L., Jacobs, P. A., Morton, N. E., Froster‐Iskenius, U., Howard‐Peebles, P. N., Nielsen, K. B., Partington, M. W., Sutherland, G. R., TURNER, G. M., & Watson, M. (1985) · Human Genetics · doi:10.1007/bf00291644 · Cited by 510 · see citing works

Muscleblind proteins regulate alternative splicing

Ho, T. H., Charlet‐Berguerand, N., Poulos, M. G., Singh, G., Swanson, M. S., & Cooper, T. A. (2004) · The EMBO Journal · doi:10.1038/sj.emboj.7600300 · Cited by 494 · see citing works

RNA-MEDIATED NEUROMUSCULAR DISORDERS

Ranum, L. P. W., & Cooper, T. A. (2006) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.29.051605.113014 · Cited by 472 · see citing works

Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

Davis, B. M., McCurrach, M. E., Taneja, K. L., Singer, R. H., & Housman, D. E. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.14.7388 · Cited by 468 · see citing works

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells

Fardaei, M. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.7.805 · Cited by 464 · see citing works

OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

Kovtun, I. V., Liu, Y., Bjoras, M., Klungland, A., Wilson, S. H., & McMurray, C. T. (2007) · Nature · doi:10.1038/nature05778 · Cited by 433 · see citing works

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8

Moseley, M. L., Zu, T., Ikeda, Y., Gao, W., Mosemiller, A. K., Daughters, R. S., Chen, G., Weatherspoon, M. R., Clark, H. B., Ebner, T. J., et al. (2006) · Nature Genetics · doi:10.1038/ng1827 · Cited by 422 · see citing works

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 · see citing works

Expansion and Length-Dependent Fragility of CTG Repeats in Yeast

Freudenreich, C. H., Kantrow, S. M., & Zakian, V. A. (1998) · Science · doi:10.1126/science.279.5352.853 · Cited by 403 · see citing works

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 · see citing works

Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy

Kanadia, R., Shin, J., Yuan, Y., Beattie, S. G., Wheeler, T. M., Thornton, C. A., & Swanson, M. S. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0604970103 · Cited by 372 · see citing works

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles

Kunst, C. B. (1994) · Cell · doi:10.1016/0092-8674(94)90134-1 · Cited by 361 · see citing works

RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila

Jin, P., Zarnescu, D. C., Zhang, F. P., Pearson, C. E., Lucchesi, J. C., Moses, K., & Warren, S. T. (2003) · Neuron · doi:10.1016/s0896-6273(03)00533-6 · Cited by 360 · see citing works

Protein composition of the intranuclear inclusions of FXTAS

Iwahashi, C., Yasui, D. H., An, H. J., Greco, C., Tassone, F., Nannen, K., Babineau, B. A., Lebrilla, C. B., Hagerman, R. J., & Hagerman, P. J. (2005) · Brain · doi:10.1093/brain/awh650 · Cited by 359 · see citing works

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 · see citing works

Trinucleotide repeats affect DNA replication in vivo

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

The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure.

Fry, M., & Loeb, L. A. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.11.4950 · Cited by 317 · see citing works

Sticky DNA

Sakamoto, N., Chastain, P. D., Parniewski, P., Ohshima, K., Pandolfo, M., Griffith, J. D., & Wells, R. D. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80474-8 · Cited by 313 · see citing works

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 · see citing works

Antisense Transcription and Heterochromatin at the DM1 CTG Repeats Are Constrained by CTCF

Cho, D. H., Thienes, C. P., Mahoney, S. E., Analau, E., Filippova, G. N., & Tapscott, S. J. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.09.002 · Cited by 283 · see citing works

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 · see citing works

Alternative Structures in Duplex DNA Formed within the Trinucleotide Repeats of the Myotonic Dystrophy and Fragile X Loci

Pearson, C. E., & Sinden, R. R. (1996) · Biochemistry · doi:10.1021/bi9601013 · Cited by 258 · see citing works

DNA structures, repeat expansions and human hereditary disorders

Mirkin, S. M. (2006) · Current Opinion in Structural Biology · doi:10.1016/j.sbi.2006.05.004 · Cited by 246 · see citing works

CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro

Usdin, K., & Woodford, K. J. (1995) · Nucleic Acids Research · doi:10.1093/nar/23.20.4202 · Cited by 241 · see citing works

Slippery DNA and diseases

Kunkel, T. A. (1993) · Nature · doi:10.1038/365207a0 · Cited by 222 · see citing works

(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 · see citing works

DNA secondary structure: A common and causative factor for expansion in human disease

McMurray, C. T. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.5.1823 · Cited by 219 · see citing works

Stability of a CTG/CAG Trinucleotide Repeat in Yeast Is Dependent on Its Orientation in the Genome

Freudenreich, C. H., Stavenhagen, J. B., & Zakian, V. A. (1997) · Molecular and Cellular Biology · doi:10.1128/mcb.17.4.2090 · Cited by 219 · see citing works

RNA structure of trinucleotide repeats associated with human neurological diseases

Sobczak, K. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg766 · Cited by 218 · see citing works

Alanine tracts: the expanding story of human illness and trinucleotide repeats

Brown, L. (2003) · Trends in Genetics · doi:10.1016/j.tig.2003.11.002 · Cited by 218 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells

Cleary, J., Nichol, K., Wang, Y.-H., & Pearson, C. E. (2002) · Nature Genetics · doi:10.1038/ng870 · Cited by 206 · see citing works

Advances in mechanisms of genetic instability related to hereditary neurological diseases

Wells, R. D. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki697 · Cited by 206 · see citing works

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

Anvret, M., Ahlberg, G., Grandell, U., et al. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.9.1397 · Cited by 198 · see citing works

Ribonuclease Dicer Cleaves Triplet Repeat Hairpins into Shorter Repeats that Silence Specific Targets

Krol, J., Fiszer, A., Mykowska, A., Sobczak, K., de Mezer, M., & Krzyżosiak, W. J. (2007) · Molecular Cell · doi:10.1016/j.molcel.2007.01.031 · Cited by 197 · see citing works

Evidence of founder chromosomes in fragile X syndrome

Richards, R. I., Holman, K. J., Friend, K. L., Kremer, E. J., Hillen, D., Staples, A., Brown, W. T., Goonewardena, P., Tarleton, J. C., Schwartz, C. E., et al. (1992) · Nature Genetics · doi:10.1038/ng0792-257 · Cited by 184 · see citing works

Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae

Miret, J. J., Pessoa-Brandão, L., & Lahue, R. S. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.21.12438 · Cited by 178 · see citing works

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 · see citing works

CUG Repeats Present in Myotonin Kinase RNA Form Metastable “Slippery” Hairpins

Напиерала, М., & Krzyżosiak, W. J. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.49.31079 · Cited by 175 · see citing works

Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats

Kino, Y. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh056 · Cited by 172 · see citing works

GAA Instability in Friedreich's Ataxia Shares a Common, DNA-Directed and Intraallelic Mechanism with Other Trinucleotide Diseases

Gacy, A. M., Goellner, G. M., Spiro, C., Chen, X., Gupta, G., Bradbury, E. M., Dyer, R. B., Mikesell, M. J., Yao, J. Z., Johnson, A. J., et al. (1998) · Molecular Cell · doi:10.1016/s1097-2765(00)80058-1 · Cited by 170 · see citing works

The Spinocerebellar Ataxia 8 Noncoding RNA Causes Neurodegeneration and Associates with Staufen in Drosophila

Mutsuddi, M., Marshall, C. M., Benzow, K. A., Koob, M. D., & Rebay, I. (2004) · Current Biology · doi:10.1016/j.cub.2004.01.034 · Cited by 169 · see citing works

Replication and Expansion of Trinucleotide Repeats in Yeast

Pelletier, R., Krasilnikova, M. M., Samadashwily, G. M., Lahue, R. S., & Mirkin, S. M. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.4.1349-1357.2003 · Cited by 164 · see citing works

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 · see citing works

Slipped-strand DNAs formed by long (CAG)middle dot(CTG) repeats: slipped-out repeats and slip-out junctions

Pearson, C. E. (2002) · Nucleic Acids Research · doi:10.1093/nar/gkf572 · Cited by 155 · see citing works

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 · see citing works

Recombination‐induced CAG trinucleotide repeat expansions in yeast involve the MRE11–RAD50–XRS2 complex

Richard, G., Goellner, G. M., McMurray, C. T., & Haber, J. E. (2000) · The EMBO Journal · doi:10.1093/emboj/19.10.2381 · Cited by 135 · see citing works

Genetic Instabilities in (CTG·CAG) Repeats Occur by Recombination

Jakupciak, J. P., & Wells, R. D. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.33.23468 · Cited by 123 · see citing works

The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer

Handa, V. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg818 · Cited by 119 · see citing works

Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy

Lu, X. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.1.53 · Cited by 116 · see citing works

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.

Jodice, C., Malaspina, P., Persichetti, F., Novelletto, A., Spadaro, M., Giunti, P., Morocutti, C., Terrenato, L., Harding, A. E., & Frontali, M. (1994) · PubMed Central · Cited by 112 · see citing works

Polyalanine Expansion in Synpolydactyly Might Result from Unequal Crossing-Over of HOXD13

Warren, S. T., Muragaki, Y., Mundlos, S., Upton, J. M., & Olsen, B. R. (1997) · Science · doi:10.1126/science.275.5298.408 · Cited by 110 · see citing works

Inhibition of Flap Endonuclease 1 by Flap Secondary Structure and Relevance to Repeat Sequence Expansion

Henricksen, L. A., Tom, S., Liu, Y., & Bambara, R. A. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m909635199 · Cited by 107 · see citing works

The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation

Amack, J. D. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.18.1879 · Cited by 105 · see citing works

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 · see citing works

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 · see citing works

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 98 · see citing works

Unpaired Structures in SCA10 (ATTCT)n·(AGAAT)n Repeats

Potaman, V. N., Bissler, J. J., Hashem, V. I., Oussatcheva, E. A., Lu, L., Shlyakhtenko, L. S., Lyubchenko, Y. L., Matsuura, T., Ashizawa, T., Leffak, M., et al. (2003) · Journal of Molecular Biology · doi:10.1016/s0022-2836(03)00037-8 · Cited by 96 · see citing works

Hairpin Formation during DNA Synthesis Primer Realignmentin Vitro in Triplet Repeat Sequences from Human Hereditary Disease Genes

Ohshima, K., & Wells, R. D. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.27.16798 · Cited by 95 · see citing works

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.

Lia, A., Seznec, H., Hofmann-Radvanyi, H., Radvanyi, F., Duros, C., Saquet, C., Blanche, M., Junien, C., & Gourdon, G. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.8.1285 · Cited by 94 · see citing works

Facile FMR1 mRNA structure regulation by interruptions in CGG repeats

Напиерала, М. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki186 · Cited by 93 · see citing works

Replication fork dynamics and dynamic mutations: the fork-shift model of repeat instability.

Cleary, J., & Pearson, C. E. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.03.008 · Cited by 92 · see citing works

GGA·TCC-interrupted Triplets in Long GAA·TTC Repeats Inhibit the Formation of Triplex and Sticky DNA Structures, Alleviate Transcription Inhibition, and Reduce Genetic Instabilities

Sakamoto, N., Larson, J. E., Iyer, R. R., Montermini, L., Pandolfo, M., & Wells, R. D. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m101852200 · Cited by 89 · see citing works

Über myotonische Dystrophie mit Katarakt

Fleischer, B. (1918) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/bf02018704 · Cited by 88 · see citing works

The involvement of non-B DNA structures in gross chromosomal rearrangements

Bacolla, A., Wojciechowska, M., Kośmider, B., Larson, J. E., & Wells, R. D. (2006) · DNA repair · doi:10.1016/j.dnarep.2006.05.032 · Cited by 88 · see citing works

Structure-dependent Recombination Hot Spot Activity of GAA·TTC Sequences from Intron 1 of the Friedreich's Ataxia Gene

Напиерала, М., Dere, R., Vetcher, A. A., & Wells, R. D. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m309596200 · Cited by 80 · see citing works

Saccharomyces cerevisiae Srs2 DNA Helicase Selectively Blocks Expansions of Trinucleotide Repeats

Bhattacharyya, S., & Lahue, R. S. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.17.7324-7330.2004 · Cited by 80 · see citing works

Saccharomyces cerevisiae Flap Endonuclease 1 Uses Flap Equilibration To Maintain Triplet Repeat Stability

Liu, Y., Zhang, H., Veeraraghavan, J., Bambara, R. A., & Freudenreich, C. H. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.9.4049-4064.2004 · Cited by 76 · see citing works

Sticky DNA, a Long GAA·GAA·TTC Triplex That Is Formed Intramolecularly, in the Sequence of Intron 1 of the Frataxin Gene

Vetcher, A. A., Напиерала, М., Iyer, R. R., Chastain, P. D., Griffith, J. D., & Wells, R. D. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m205209200 · Cited by 74 · see citing works

Hairpin Structure-forming Propensity of the (CCTG·CAGG) Tetranucleotide Repeats Contributes to the Genetic Instability Associated with Myotonic Dystrophy Type 2

Dere, R., Напиерала, М., Ranum, L. P. W., & Wells, R. D. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m406415200 · Cited by 72 · see citing works

Recent progress in spinocerebellar ataxia type-10 (SCA10)

Lin, X., & Ashizawa, T. (2005) · The Cerebellum · doi:10.1080/14734220510007897 · Cited by 65 · see citing works

Postreplication Repair Inhibits CAG · CTG Repeat Expansions in Saccharomyces cerevisiae

Daee, D. L., Mertz, T. M., & Lahue, R. S. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.01167-06 · Cited by 54 · see citing works

Long CTG Tracts from the Myotonic Dystrophy Gene Induce Deletions and Rearrangements during Recombination at the APRT Locus in CHO Cells

Meservy, J. L., Sargent, R. G., Iyer, R. R., Chan, F., McKenzie, G. J., Wells, R. D., & Wilson, J. H. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.9.3152-3162.2003 · Cited by 50 · see citing works

An Origin of DNA Replication in the Promoter Region of the Human Fragile X Mental Retardation (FMR1) Gene

Gray, S. J., Gerhardt, J., Doerfler, W., Small, L. E., & Fanning, E. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.01382-06 · Cited by 49 · see citing works

Mismatch Repair Blocks Expansions of Interrupted Trinucleotide Repeats in Yeast

Rolfsmeier, M. L., Dixon, M. J., & Lahue, R. S. (2000) · Molecular Cell · doi:10.1016/s1097-2765(00)00146-5 · Cited by 44 · see citing works

Positioned to expand

Mirkin, S. M., & Smirnova, E. V. (2002) · Nature Genetics · doi:10.1038/ng0502-5 · Cited by 43 · see citing works

Fen1 does not control somatic hypermutability of the (CTG)n· (CAG)n repeat in a knock‐in mouse model for DM1

van den Broek, W. J. A. A., Nelen, M. R., van der Heijden, G. W., Wansink, D. G., & Wieringa, B. (2006) · FEBS Letters · doi:10.1016/j.febslet.2006.08.059 · Cited by 38 · see citing works

Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats

Rindler, P. M., Clark, R. M., Pollard, L., Biase, I. D., & Bidichandani, S. I. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl846 · Cited by 38 · see citing works

Both CAG repeats and inverted DNA repeats stimulate spontaneous unequal sister-chromatid exchange in Saccharomyces cerevisiae

Nag, D. K. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh901 · Cited by 37 · see citing works

Contractions and Expansions of CAG/CTG Trinucleotide Repeats occur during Ectopic Gene Conversion in Yeast, by a MUS81-independent Mechanism

Richard, G., Cyncynatus, C., & Dujon, B. (2003) · Journal of Molecular Biology · doi:10.1016/s0022-2836(02)01405-5 · Cited by 35 · see citing works

The AUUCU Repeats Responsible for Spinocerebellar Ataxia Type 10 Form Unusual RNA Hairpins

Handa, V., Yeh, H. J. C., McPhie, P., et al. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m503495200 · Cited by 34 · see citing works

DM2 CCTG•CAGG Repeats are Crossover Hotspots that are More Prone to Expansions than the DM1 CTG•CAG Repeats in Escherichia coli

Dere, R., & Wells, R. D. (2006) · Journal of Molecular Biology · doi:10.1016/j.jmb.2006.05.012 · Cited by 20 · see citing works

Possible Involvement of the RNAi Pathway in Trinucleotide Repeat Expansion Diseases

Malinina, L. V. (2005) · Journal of Biomolecular Structure and Dynamics · doi:10.1080/07391102.2005.10531230 · Cited by 17 · see citing works

Polyalanine and Polyglutamine Diseases: Possible Common Mechanisms?

Abu‐Baker, A., & Rouleau, G. A. (2006) · Elsevier eBooks · doi:10.1016/b978-012369462-1/50034-x · Cited by 6 · see citing works

The RNA-Mediated Disease Process in Myotonic Dystrophy

Thornton, C. A., Swanson, M. S., & Cooper, T. A. (2006) · Elsevier eBooks · doi:10.1016/b978-012369462-1/50004-1 · Cited by 3 · see citing works

The DNA-damage response in human biology and disease

Jackson, S. P., & Bartek, J. (2009) · Nature · doi:10.1038/nature08467 · Cited by 6,092 · see citing works

Coming of age: ten years of next-generation sequencing technologies

Goodwin, S., McPherson, J. D., & McCombie, W. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.49 · Cited by 4,352 · see citing works

Fragile X syndrome

Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838 · see citing works

Mechanisms of trinucleotide repeat instability during human development

McMurray, C. T. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2828 · Cited by 496 · see citing works

Abundant contribution of short tandem repeats to gene expression variation in humans

Gymrek, M., Willems, T., Guilmatre, A., Zeng, H., Markus, B., Georgiev, S., Daly, M. J., Price, A. L., Pritchard, J. K., Sharp, A. J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3461 · Cited by 410 · see citing works

Repeat instability as the basis for human diseases and as a potential target for therapy

López Castel, A., Cleary, J. D., & Pearson, C. E. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2854 · Cited by 429 · see citing works

Towards population-scale long-read sequencing

De Coster, W., Weissensteiner, M. H., & Sedlazeck, F. J. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-021-00367-3 · Cited by 323 · see citing works

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Beck, J., Poulter, M., Hensman, D., Rohrer, J. D., Mahoney, C. J., Adamson, G., Campbell, T., Uphill, J., Borg, A., Fratta, P., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.01.011 · Cited by 345 · see citing works

Genome-wide profiling of heritable and de novo STR variations

Willems, T., Zielinski, D., Yuan, J., Gordon, A., Gymrek, M., & Erlich, Y. (2017) · Nature Methods · doi:10.1038/nmeth.4267 · Cited by 329 · see citing works

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy

Du, H., Cline, M. S., Osborne, R. J., Tuttle, D. L., Clark, T. A., Donohue, J. P., Hall, M. P., Shiue, L., Swanson, M. S., Thornton, C. A., et al. (2010) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1720 · Cited by 332 · see citing works

The landscape of human STR variation

Willems, T., Gymrek, M., Highnam, G., The 1000 Genomes Project Consortium, Mittelman, D., & Erlich, Y. (2014) · Genome Research · doi:10.1101/gr.177774.114 · Cited by 283 · see citing works

Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries

Sun, J. H., Zhou, L., Emerson, D. J., Phyo, S. A., Titus, K. R., Gong, W., Gilgenast, T. G., Beagan, J. A., Davidson, B. L., Tassone, F., et al. (2018) · Cell · doi:10.1016/j.cell.2018.08.005 · Cited by 249 · see citing works

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

Bettencourt, C., Hensman‐Moss, D., Flower, M., Wiethoff, S., Brice, A., Goizet, C., Stevanin, G., Koutsis, G., Karadima, G., Panas, M., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24656 · Cited by 227 · see citing works

Dynamic alternative DNA structures in biology and disease

Wang, G., & Vasquez, K. M. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-022-00539-9 · Cited by 196 · see citing works

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 · see citing works

The Genetics of <i>Neisseria</i> Species

Rotman, E., & Seifert, H. S. (2014) · Annual Review of Genetics · doi:10.1146/annurev-genet-120213-092007 · Cited by 122 · see citing works

Involvement of long noncoding RNAs in diseases affecting the central nervous system

Pastori, C., & Wahlestedt, C. (2012) · RNA Biology · doi:10.4161/rna.20482 · Cited by 100 · see citing works

Expanded CAG/CTG Repeat DNA Induces a Checkpoint Response That Impacts Cell Proliferation in Saccharomyces cerevisiae

Sundararajan, R., & Freudenreich, C. H. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001339 · Cited by 36 · see citing works

A new type of tandem repeats in Myotis petax (Chiroptera, Vespertilionidae) mitochondrial control region

Gorobeyko, U. V., Sheremetyeva, I. N., Kazakov, D. V., et al. (2023) · Molecular Biology Reports · doi:10.1007/s11033-023-08468-4 · Cited by 3 · see citing works

Characteristic enrichment of DNA repeats in different genomes

Cox, R., & Mirkin, S. M. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5237 · Cited by 137 · see citing works

ProRepeat: an integrated repository for studying amino acid tandem repeats in proteins

Luo, H., Lin, K., David, A., Nijveen, H., & Leunissen, J. A. M. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr1019 · Cited by 17 · see citing works

Instability of large direct repeats in retrovirus vectors

Rhode, B. W., Emerman, M., & Temin, H. M. (1987) · Journal of Virology · doi:10.1128/jvi.61.3.925-927.1987 · Cited by 50 · see citing works

Search for Tandem Repeats in the First Chromosome from the Rice Genome

Korotkov, E., Kamionskaya, A. M., & Korotkova, M. A. (2020) · Lecture notes in computer science · doi:10.1007/978-3-030-57821-3_26