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Journal Abstract Search

220 related items for PubMed ID: 21378394

  • 1.
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  • 2. CTG/CAG repeat instability is modulated by the levels of human DNA ligase I and its interaction with proliferating cell nuclear antigen: a distinction between replication and slipped-DNA repair.
    López Castel A, Tomkinson AE, Pearson CE.
    J Biol Chem; 2009 Sep 25; 284(39):26631-45. PubMed ID: 19628465
    [Abstract] [Full Text] [Related]

  • 3. Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.
    Tomé S, Dandelot E, Dogan C, Bertrand A, Geneviève D, Péréon Y, DM contraction study groupPauline Arnaud: Department of genetic, Bichat Hospital, Paris, France, Raphaële Chasserieau: Centre for Neuromuscular Diseases, Hôtel-Dieu Hospital, Nantes, France, Pascal Cintas: Neuromuscular Reference Center, Purpan Hospital, Toulouse, France, Ana-maria Cobo Esteban: Neuromuscular Reference Center, Marin Hospital, Hendaye, France, Marie-Carmen Cruz: Neuromuscular Reference Center, Purpan Hospital, Toulouse, France, Dalil Hamroun: Centre Hospitalo-Universitaire de Montpellier, Montpellier, France, Armelle Magot: Neuromuscular Reference Center, Hôtel-Dieu Hospital, Nantes, France, Alexandra Nadaj-Pakleza Neuromuscular Reference Center, Larrey Hospital, Angers, France, Anne-catherine Aube-Gauthier Neuromuscular Reference Center, Larrey Hospital, Angers, France, Andoni Urtizberea: Neuromuscular Reference Center, Marin Hospital, Hendaye, France., Simon M, Bonnefont JP, Bassez G, Gourdon G.
    Hum Mutat; 2018 Jul 25; 39(7):970-982. PubMed ID: 29664219
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  • 5. 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 25; 119(5):520-6. PubMed ID: 16552576
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  • 6. 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 JL, Chitayat D, Pearson CE.
    Am J Hum Genet; 2003 Nov 25; 73(5):1092-105. PubMed ID: 14574643
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  • 8. Fen1 does not control somatic hypermutability of the (CTG)(n)*(CAG)(n) repeat in a knock-in mouse model for DM1.
    van den Broek WJ, Nelen MR, van der Heijden GW, Wansink DG, Wieringa B.
    FEBS Lett; 2006 Oct 02; 580(22):5208-14. PubMed ID: 16978612
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  • 9. Somatic CTG*CAG repeat instability in a mouse model for myotonic dystrophy type 1 is associated with changes in cell nuclearity and DNA ploidy.
    van den Broek WJ, Wansink DG, Wieringa B.
    BMC Mol Biol; 2007 Jul 23; 8():61. PubMed ID: 17645799
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  • 10. Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice.
    Larson E, Fyfe I, Morton AJ, Monckton DG.
    Neurobiol Dis; 2015 Apr 23; 76():98-111. PubMed ID: 25662336
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  • 11. 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. PubMed ID: 11809728
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  • 12. MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.
    Tomé S, Holt I, Edelmann W, Morris GE, Munnich A, Pearson CE, Gourdon G.
    PLoS Genet; 2009 May 15; 5(5):e1000482. PubMed ID: 19436705
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  • 13. Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats.
    Nakamori M, Pearson CE, Thornton CA.
    Hum Mol Genet; 2011 Feb 01; 20(3):580-8. PubMed ID: 21088112
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  • 14.
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  • 15. Haploinsufficiency of yeast FEN1 causes instability of expanded CAG/CTG tracts in a length-dependent manner.
    Yang J, Freudenreich CH.
    Gene; 2007 May 15; 393(1-2):110-5. PubMed ID: 17383831
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  • 17. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.
    Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG.
    Hum Mol Genet; 2010 Apr 15; 19(8):1399-412. PubMed ID: 20080938
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  • 18. 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.
    Ann Neurol; 2002 Oct 15; 52(4):435-41. PubMed ID: 12325072
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  • 20. 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 01; 20(1):176-85. PubMed ID: 20935170
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