Notch and disease: a growing field

Semin Cell Dev Biol. 2012 Jun;23(4):473-80. doi: 10.1016/j.semcdb.2012.02.005. Epub 2012 Feb 20.


Signals through the Notch receptors are used throughout development to control cellular fate choices. Our intention here is to provide an overview of the involvement of Notch signaling in human disease, which, keeping pace with the known biology of the pathway, manifests itself in a pleiotropic fashion. A pathway with such broad action in normal development, a profound involvement in the biology of adult stem cells and intricate and complex controls governing its activity, poses numerous challenges. We provide an overview of Notch related pathologies identified thus far and emphasize aspects that have been modeled in experimental systems in order to understand the underlying pathobiology and, hopefully, help the definition of rational therapeutic avenues.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Alagille Syndrome / genetics
  • Alagille Syndrome / metabolism
  • Animals
  • Bone Diseases, Metabolic / genetics
  • Bone Diseases, Metabolic / metabolism
  • CADASIL / genetics
  • CADASIL / metabolism
  • Cardiovascular Diseases / genetics
  • Cardiovascular Diseases / metabolism
  • Genetic Pleiotropy
  • Humans
  • Mutation*
  • Neoplasms / genetics
  • Oncogenes
  • Receptors, Notch / genetics*
  • Receptors, Notch / metabolism
  • Receptors, Notch / physiology
  • Signal Transduction / genetics*


  • Receptors, Notch