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  • Stéphanie Tomé, Ian Holt, Winfried Edelmann, Glenn E. Morris, Arnold Munnich, Christopher E. Pearson +1 other
  • 2009
Myotonic dystrophy type 1 (DM1) is associated with one of the most highly unstable CTG*CAG repeat expansions. The formation of further repeat expansions in transgenic mice carrying expanded CTG*CAG tracts requires the mismatch repair (MMR) proteins MSH2 and MSH3, forming the MutSbeta complex. It has been proposed that binding of MutSbeta to CAG hairpins(More)
The genetic basis of myotonic dystrophy type I (DM1) is the expansion of a CTG tract located in the 3' untranslated region of DMPK. Expression of mutant RNAs encoding expanded CUG repeats plays a central role in the development of cardiac disease in DM1. Expanded CUG tracts form both nuclear and cytoplasmic aggregates, yet the relative significance of such(More)
  • Nguyen Thuy Duong, Glenn E. Morris, Le Thanh Lam, Qiuping Zhang, Caroline A. Sewry, Catherine M. Shanahan +1 other
  • 2014
Nesprin-1-giant and nesprin-2-giant regulate nuclear positioning by the interaction of their C-terminal KASH domains with nuclear membrane SUN proteins and their N-terminal calponin-homology domains with cytoskeletal actin. A number of short isoforms lacking the actin-binding domains are produced by internal promotion. We have evaluated the significance of(More)
This demonstration will present the first stage of the ROO tool, a Protégé plugin that facilitates domain experts with little or no knowledge engineering experience to build ontologies. The ontology authoring process is assisted by offering task-driven suggestions and appropriate help, based on an ontology construction methodology developed at Ordnance(More)
Five subtypes of dopamine receptor exist in two subfamilies: two D(1)-like (D(1) and D(5)) and three D(2)-like (D(2), D(3) and D(4)). We produced novel monoclonal antibodies against all three D(2)-like receptors and used them to localize receptors in Ntera-2 (NT-2) cells, the human neuronal precursor cell line. Most of the immunostaining for all three(More)
Almost 30 years ago, the monoclonal antibody Py was developed to detect pyramidal neurons in the CA3 region of the rat hippocampus. The utility of this antibody quickly expanded when several groups discovered that it could be used to identify very specific populations of neurons in the normal, developing, and diseased or injured central nervous system.(More)
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