Monckton DG - Search Results

1

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice.

Libby RT, Monckton DG, Fu YH, Martinez RA, McAbney JP, Lau R, Einum DD, Nichol K, Ware CB, Ptacek LJ, Pearson CE, La Spada AR. Libby RT, et al. Among authors: monckton dg. Hum Mol Genet. 2003 Jan 1;12(1):41-50. doi: 10.1093/hmg/ddg006. Hum Mol Genet. 2003. PMID: 12490531

2

Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.

Taylor AS, Barros D, Gobet N, Schuepbach T, McAllister B, Aeschbach L, Randall EL, Trofimenko E, Heuchan ER, Barszcz P, Ciosi M, Morgan J, Hafford-Tear NJ, Davidson AE, Massey TH, Monckton DG, Jones L, Network RIOTEHD, Xenarios I, Dion V. Taylor AS, et al. Among authors: monckton dg. NAR Genom Bioinform. 2022 Dec 5;4(4):lqac089. doi: 10.1093/nargab/lqac089. eCollection 2022 Dec. NAR Genom Bioinform. 2022. PMID: 36478959 Free PMC article.

3

Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.

Kim KH, Hong EP, Lee Y, McLean ZL, Elezi E, Lee R, Kwak S, McAllister B, Massey TH, Lobanov S, Holmans P, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Kim KH, et al. Among authors: monckton dg. Proc Natl Acad Sci U S A. 2024 Apr 16;121(16):e2322924121. doi: 10.1073/pnas.2322924121. Epub 2024 Apr 12. Proc Natl Acad Sci U S A. 2024. PMID: 38607933 Free PMC article.

4

Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cells.

Raaijmakers RHL, Ausems CRM, Willemse M, Cumming SA, van Engelen BGM, Monckton DG, van Bokhoven H, Wansink DG. Raaijmakers RHL, et al. Among authors: monckton dg. Stem Cell Res Ther. 2024 Sep 15;15(1):302. doi: 10.1186/s13287-024-03913-y. Stem Cell Res Ther. 2024. PMID: 39278936 Free PMC article.

5

Modification of Huntington's disease by short tandem repeats.

Hong EP, Ramos EM, Aziz NA, Massey TH, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Lomeikaite V, Monckton DG, Long JD, Lucente D, Wheeler VC, Gillis T, MacDonald ME, Sequeiros J, Gusella JF, Lee JM. Hong EP, et al. Among authors: monckton dg. Brain Commun. 2024 Jan 23;6(2):fcae016. doi: 10.1093/braincomms/fcae016. eCollection 2024. Brain Commun. 2024. PMID: 38449714 Free PMC article.

6

Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males.

Monckton DG, Cayuela ML, Gould FK, Brock GJ, Silva R, Ashizawa T. Monckton DG, et al. Hum Mol Genet. 1999 Dec;8(13):2473-8. doi: 10.1093/hmg/8.13.2473. Hum Mol Genet. 1999. PMID: 10556295

7

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

Fortune MT, Vassilopoulos C, Coolbaugh MI, Siciliano MJ, Monckton DG. Fortune MT, et al. Among authors: monckton dg. Hum Mol Genet. 2000 Feb 12;9(3):439-45. doi: 10.1093/hmg/9.3.439. Hum Mol Genet. 2000. PMID: 10655554

8

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 MT, Monckton DG. Gomes-Pereira M, et al. Among authors: monckton dg. Hum Mol Genet. 2001 Apr 1;10(8):845-54. doi: 10.1093/hmg/10.8.845. Hum Mol Genet. 2001. PMID: 11285250

9

Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm.

Zhang Y, Monckton DG, Siciliano MJ, Connor TH, Meistrich ML. Zhang Y, et al. Among authors: monckton dg. Hum Mol Genet. 2002 Apr 1;11(7):791-8. doi: 10.1093/hmg/11.7.791. Hum Mol Genet. 2002. PMID: 11929851

10

Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1.

Abbruzzese C, Costanzi Porrini S, Mariani B, Gould FK, McAbney JP, Monckton DG, Ashizawa T, Giacanelli M. Abbruzzese C, et al. Among authors: monckton dg. Ann Neurol. 2002 Oct;52(4):435-41. doi: 10.1002/ana.10304. Ann Neurol. 2002. PMID: 12325072

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