Notch signaling and inherited disease syndromes

Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R9-13. doi: 10.1093/hmg/ddg052.


The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in organisms as diverse as insects, nematodes, echinoderms and mammals. Disruptions in conserved developmental pathways frequently result in inherited congenital anomalies in humans. Mutations in genes encoding Notch pathway components underlie three inherited human diseases: Alagille syndrome, spondylocostal dysostosis, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Mouse models for these three diseases have been developed, and are leading to novel insights into the pathology of these diseases in humans.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Alagille Syndrome / genetics
  • Animals
  • Dementia, Multi-Infarct / genetics
  • Dysostoses / genetics
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism*
  • Membrane Proteins / physiology
  • Models, Biological
  • Mutation
  • Receptors, Notch
  • Signal Transduction*


  • Membrane Proteins
  • Receptors, Notch

Associated data

  • OMIM/118450