Literature DB >> 9399912

Instability of the (CTG)n repeat in congenital myotonic dystrophy.

L J Wong, T Ashizawa.   

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Year:  1997        PMID： 9399912      PMCID： PMC1716094          DOI： 10.1086/301654

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  17 in total

1.  Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.

Authors:  J Myring; A L Meredith; H G Harley; G Kohn; G Norbury; P S Harper; D J Shaw
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

2.  Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development.

Authors:  L Martorell; K Johnson; C A Boucher; M Baiget
Journal:  Hum Mol Genet       Date:  1997-06       Impact factor: 6.150

3.  Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.

Authors:  M Mahadevan; C Tsilfidis; L Sabourin; G Shutler; C Amemiya; G Jansen; C Neville; M Narang; J Barceló; K O'Hoy
Journal:  Science       Date:  1992-03-06       Impact factor: 47.728

4.  An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

Authors:  Y H Fu; A Pizzuti; R G Fenwick; J King; S Rajnarayan; P W Dunne; J Dubel; G A Nasser; T Ashizawa; P de Jong
Journal:  Science       Date:  1992-03-06       Impact factor: 47.728

5.  Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

Authors:  C Lavedan; H Hofmann-Radvanyi; P Shelbourne; J P Rabes; C Duros; D Savoy; I Dehaupas; S Luce; K Johnson; C Junien
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

6.  Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat.

Authors:  T Ashizawa; J R Dubel; P W Dunne; C J Dunne; Y H Fu; A Pizzuti; C T Caskey; E Boerwinkle; M B Perryman; H F Epstein
Journal:  Neurology       Date:  1992-10       Impact factor: 9.910

7.  Somatic instability of CTG repeat in myotonic dystrophy.

Authors:  T Ashizawa; J R Dubel; Y Harati
Journal:  Neurology       Date:  1993-12       Impact factor: 9.910

8.  Direct molecular diagnosis of myotonic dystrophy.

Authors:  B K Hecht; A Donnelly; A K Gedeon; R W Byard; E A Haan; J C Mulley
Journal:  Clin Genet       Date:  1993-06       Impact factor: 4.438

9.  Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors:  J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal:  Cell       Date:  1992-02-21       Impact factor: 41.582

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

Authors:  M Anvret; G Ahlberg; U Grandell; B Hedberg; K Johnson; L Edström
Journal:  Hum Mol Genet       Date:  1993-09       Impact factor: 6.150
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  5 in total

Review 1.  Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy.

Authors:  N Muge Kuyumcu-Martinez; Thomas A Cooper
Journal:  Prog Mol Subcell Biol       Date:  2006

2.  Correction of Glycogen Synthase Kinase 3β in Myotonic Dystrophy 1 Reduces the Mutant RNA and Improves Postnatal Survival of DMSXL Mice.

Authors:  Mei Wang; Wen-Chin Weng; Lauren Stock; Diana Lindquist; Ana Martinez; Genevieve Gourdon; Nikolai Timchenko; Mike Snape; Lubov Timchenko
Journal:  Mol Cell Biol       Date:  2019-10-11       Impact factor: 4.272

3.  Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy.

Authors:  James D Thomas; Łukasz J Sznajder; Olgert Bardhi; Faaiq N Aslam; Zacharias P Anastasiadis; Marina M Scotti; Ichizo Nishino; Masayuki Nakamori; Eric T Wang; Maurice S Swanson
Journal:  Genes Dev       Date:  2017-07-11       Impact factor: 11.361

4.  CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.

Authors:  Lise Barbé; Stella Lanni; Arturo López-Castel; Silvie Franck; Claudia Spits; Kathelijn Keymolen; Sara Seneca; Stephanie Tomé; Ioana Miron; Julie Letourneau; Minggao Liang; Sanaa Choufani; Rosanna Weksberg; Michael D Wilson; Zdenek Sedlacek; Cynthia Gagnon; Zuzana Musova; David Chitayat; Patrick Shannon; Jean Mathieu; Karen Sermon; Christopher E Pearson
Journal:  Am J Hum Genet       Date:  2017-03-02       Impact factor: 11.025

Review 5.  The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington's Disease: A Historical Perspective.

Authors:  Darren G Monckton
Journal:  J Huntingtons Dis       Date:  2021
  5 in total

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