SOX10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

  title={SOX10 mutation disrupts neural crest development in Dom Hirschsprung mouse model},
  author={E. M. Southard-Smith and L. Kos and W. Pavan},
  journal={Nature Genetics},
  • E. M. Southard-Smith, L. Kos, W. Pavan
  • Published 1998
  • Biology, Medicine
  • Nature Genetics
  • Hirschsprung disease (HSCR, MIM ♯142623) is a multigenic neuocristopathy (neural crest disorder) characterized by absence of enteric ganglia in a variable portion of the distal colon. Subsets of HSCR individuals also present with neural crest-derived melanocyte deficiencies (Hirschsprung-Waardenburg, HSCR-WS, MIM ♯277580). Murine models have been instrumental in the identification and analysis of HSCR disease genes. These include mice with deficiencies of endothelin B receptor (Ednrbs–l refs 1… CONTINUE READING
    682 Citations
    Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease.
    • 141
    • PDF
    The role of SOX10 during enteric nervous system development.
    • 48
    Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients*
    • 129
    • PDF
    Knockout mouse models of Hirschsprung’s disease
    • 13
    Enteric Neuron Imbalance and Proximal Dysmotility in Ganglionated Intestine of the Sox10Dom/+ Hirschsprung Mouse Model
    • 19
    • PDF


    Defects in enteric innervation and kidney development in mice lacking GDNF
    • 1,131
    Piebald lethal (sl) acts early to disrupt the development of neural crest-derived melanocytes.
    • W. Pavan, S. Tilghman
    • Biology, Medicine
    • Proceedings of the National Academy of Sciences of the United States of America
    • 1994
    • 129
    • PDF