Trinucleotide Repeat Expansion

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  Subject Areas on Research

  • Altered diffusion tensor imaging measurements in aged transgenic Huntington disease rats. 
  • An interdomain interaction of the androgen receptor is required for its aggregation and toxicity in spinal and bulbar muscular atrophy. 
  • Analysis of the mouse transcriptome for genes involved in the function of the nervous system. 
  • Arithmetic difficulties in females with the fragile X premutation. 
  • CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. 
  • Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. 
  • Expanded polyglutamine stretches form an 'aggresome'. 
  • Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy. 
  • Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. 
  • Increased 4R-Tau Induces Pathological Changes in a Human-Tau Mouse Model. 
  • Loss of Fhit expression in non-small-cell lung cancer: correlation with molecular genetic abnormalities and clinicopathological features. 
  • Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009). 
  • Pathogenesis of inclusion bodies in (CAG)n/Qn-expansion diseases with special reference to the role of tissue transglutaminase and to selective vulnerability. 
  • Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms. 
  • The FMR1 premutation and reproduction. 
  • Therapy development in Huntington disease: From current strategies to emerging opportunities. 
  • Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy. 
  • X-Linked Spinal and Bulbar Muscular Atrophy: From Clinical Genetic Features and Molecular Pathology to Mechanisms Underlying Disease Toxicity.