Mutations in signal transduction pathways and inherited diseases

Curr Opin Genet Dev. 1992 Jun;2(3):455-8. doi: 10.1016/s0959-437x(05)80157-1.

Abstract

Intracellular signal transduction pathways have central roles in processes such as growth, differentiation, neurotransmission and development. The aberrant expression of components of various signal transduction pathways has profound consequences for cellular functions. Recent findings indicate that many cases of neoplasia and inherited diseases have, at their roots, mutations in key steps of signalling pathways.

Publication types

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

MeSH terms

  • Animals
  • GTP-Binding Proteins / genetics*
  • GTPase-Activating Proteins
  • Genetic Diseases, Inborn / genetics*
  • Humans
  • Mutation
  • Oncogene Protein p21(ras)
  • Proteins
  • Signal Transduction / genetics*
  • ras GTPase-Activating Proteins

Substances

  • GTPase-Activating Proteins
  • Proteins
  • ras GTPase-Activating Proteins
  • GTP-Binding Proteins
  • Oncogene Protein p21(ras)