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Items: 1 to 20 of 107

1.

MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1.

Flower M, Lomeikaite V, Ciosi M, Cumming S, Morales F, Lo K, Hensman Moss D, Jones L, Holmans P; TRACK-HD Investigators ; OPTIMISTIC Consortium , Monckton DG, Tabrizi SJ.

Brain. 2019 Jun 19. pii: awz115. doi: 10.1093/brain/awz115. [Epub ahead of print]

2.

MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice.

Tomé S, Manley K, Simard JP, Clark GW, Slean MM, Swami M, Shelbourne PF, Tillier ER, Monckton DG, Messer A, Pearson CE.

PLoS Genet. 2013;9(2):e1003280. doi: 10.1371/journal.pgen.1003280. Epub 2013 Feb 28.

3.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Moss DJH, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S; TRACK-HD investigators; REGISTRY investigators, Holmans P, Jones L, Tabrizi SJ.

Lancet Neurol. 2017 Sep;16(9):701-711. doi: 10.1016/S1474-4422(17)30161-8. Epub 2017 Jun 20. Erratum in: Lancet Neurol. 2017 Sep;16(9):683.

PMID:
28642124
4.

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients.

Morales F, Vásquez M, Santamaría C, Cuenca P, Corrales E, Monckton DG.

DNA Repair (Amst). 2016 Apr;40:57-66. doi: 10.1016/j.dnarep.2016.01.001. Epub 2016 Mar 8.

PMID:
26994442
5.

Length-dependent CTG·CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells.

Du J, Campau E, Soragni E, Jespersen C, Gottesfeld JM.

Hum Mol Genet. 2013 Dec 20;22(25):5276-87. doi: 10.1093/hmg/ddt386. Epub 2013 Aug 9.

6.

Disease-associated repeat instability and mismatch repair.

Schmidt MHM, Pearson CE.

DNA Repair (Amst). 2016 Feb;38:117-126. doi: 10.1016/j.dnarep.2015.11.008. Epub 2015 Dec 12. Review.

PMID:
26774442
7.

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 WJ, Nelen MR, Wansink DG, Coerwinkel MM, te Riele H, Groenen PJ, Wieringa B.

Hum Mol Genet. 2002 Jan 15;11(2):191-8.

PMID:
11809728
8.

Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches.

Pinto RM, Dragileva E, Kirby A, Lloret A, Lopez E, St Claire J, Panigrahi GB, Hou C, Holloway K, Gillis T, Guide JR, Cohen PE, Li GM, Pearson CE, Daly MJ, Wheeler VC.

PLoS Genet. 2013 Oct;9(10):e1003930. doi: 10.1371/journal.pgen.1003930. Epub 2013 Oct 31.

9.

No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3.

Hellenbroich Y, Kaulich M, Opitz S, Schwinger E, Zühlke C.

Psychiatr Genet. 2004 Jun;14(2):61-3.

PMID:
15167689
11.

Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation.

Seriola A, Spits C, Simard JP, Hilven P, Haentjens P, Pearson CE, Sermon K.

Hum Mol Genet. 2011 Jan 1;20(1):176-85. doi: 10.1093/hmg/ddq456. Epub 2010 Oct 8.

PMID:
20935170
12.

MSH3 Promotes Dynamic Behavior of Trinucleotide Repeat Tracts In Vivo.

Williams GM, Surtees JA.

Genetics. 2015 Jul;200(3):737-54. doi: 10.1534/genetics.115.177303. Epub 2015 May 11.

13.
14.

Msh2-Msh3 interferes with Okazaki fragment processing to promote trinucleotide repeat expansions.

Kantartzis A, Williams GM, Balakrishnan L, Roberts RL, Surtees JA, Bambara RA.

Cell Rep. 2012 Aug 30;2(2):216-22. doi: 10.1016/j.celrep.2012.06.020. Epub 2012 Aug 2.

15.
16.

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

Dragileva E, Hendricks A, Teed A, Gillis T, Lopez ET, Friedberg EC, Kucherlapati R, Edelmann W, Lunetta KL, MacDonald ME, Wheeler VC.

Neurobiol Dis. 2009 Jan;33(1):37-47. doi: 10.1016/j.nbd.2008.09.014. Epub 2008 Sep 30.

17.

Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSbeta, but clustered slip-outs are poorly repaired.

Panigrahi GB, Slean MM, Simard JP, Gileadi O, Pearson CE.

Proc Natl Acad Sci U S A. 2010 Jul 13;107(28):12593-8. doi: 10.1073/pnas.0909087107. Epub 2010 Jun 22.

18.

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.

Foiry L, Dong L, Savouret C, Hubert L, te Riele H, Junien C, Gourdon G.

Hum Genet. 2006 Jun;119(5):520-6. Epub 2006 Mar 22.

PMID:
16552576
19.

Large expansion of CTG•CAG repeats is exacerbated by MutSβ in human cells.

Nakatani R, Nakamori M, Fujimura H, Mochizuki H, Takahashi MP.

Sci Rep. 2015 Jun 5;5:11020. doi: 10.1038/srep11020.

20.

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.

Morales F, Couto JM, Higham CF, Hogg G, Cuenca P, Braida C, Wilson RH, Adam B, del Valle G, Brian R, Sittenfeld M, Ashizawa T, Wilcox A, Wilcox DE, Monckton DG.

Hum Mol Genet. 2012 Aug 15;21(16):3558-67. doi: 10.1093/hmg/dds185. Epub 2012 May 16.

PMID:
22595968

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