FSHD: a repeat contraction disease finally ready to expand (our understanding of its pathogenesis)

PLoS Genet. 2010 Oct 28;6(10):e1001180. doi: 10.1371/journal.pgen.1001180.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Chromosomes, Human, Pair 4 / genetics
  • Female
  • Gene Expression Profiling*
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Models, Genetic
  • Muscle Cells / metabolism
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Dystrophy, Facioscapulohumeral / genetics*
  • RNA Splicing*
  • Repetitive Sequences, Nucleic Acid / genetics

Substances

  • DUX4L1 protein, human
  • Homeodomain Proteins