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Journal Abstract Search

544 related items for PubMed ID: 20080938

  • 21. 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. PubMed ID: 22595968
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  • 24. Chemotherapeutic deletion of CTG repeats in lymphoblast cells from DM1 patients.
    Hashem VI, Pytlos MJ, Klysik EA, Tsuji K, Khajavi M, Ashizawa T, Sinden RR.
    Nucleic Acids Res; 2004 Aug 15; 32(21):6334-46. PubMed ID: 15576360
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  • 25. Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1.
    Mangin A, de Pontual L, Tsai YC, Monteil L, Nizon M, Boisseau P, Mercier S, Ziegle J, Harting J, Heiner C, Gourdon G, Tomé S.
    Int J Mol Sci; 2021 Mar 05; 22(5):. PubMed ID: 33807660
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  • 26. Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease.
    Spits C, Seneca S, Hilven P, Liebaers I, Sermon K.
    J Med Genet; 2010 Oct 05; 47(10):700-3. PubMed ID: 20644219
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  • 27. Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1.
    Piñeiro E, Fernàndez-López L, Gamez J, Marcos R, Surrallés J, Velázquez A.
    Nucleic Acids Res; 2003 Dec 01; 31(23):6733-40. PubMed ID: 14627806
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  • 28. An intergenerational contraction of the CTG repeat in Japanese myotonic dystrophy.
    Matsumura R, Namikawa T, Miki T, Kihira T, Yamagata H, Mano Y, Takayanagi T.
    J Neurol Sci; 1996 Jul 01; 139(1):48-51. PubMed ID: 8836971
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  • 30. Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length.
    Panaite PA, Kuntzer T, Gourdon G, Barakat-Walter I.
    Respir Physiol Neurobiol; 2013 Oct 01; 189(1):22-6. PubMed ID: 23811192
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  • 34. Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family.
    Fontana L, Santoro M, D'Apice MR, Peluso F, Gori G, Morrone A, Novelli G, Dosa L, Botta A.
    Acta Myol; 2020 Mar 01; 39(1):13-18. PubMed ID: 32607474
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  • 35. 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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  • 38. [Somatic mosaicism of p(CTG)n expansion in a case of myotonic dystrophy with parotid tumor].
    Ogata K, Takahashi A, Oguchi N, Ishitoya J, Fuse S, Shimpo T.
    Rinsho Shinkeigaku; 1998 Aug 01; 38(8):736-8. PubMed ID: 9916519
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  • 39. 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 RD.
    J Mol Biol; 2006 Jun 30; 360(1):21-36. PubMed ID: 16753177
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