Congenital diseases and semaphorin signaling: overview to date of the evidence linking them

Congenit Anom (Kyoto). 2015 Feb;55(1):26-30. doi: 10.1111/cga.12095.

Abstract

Semaphorins and their receptors, neuropilins and plexins, were initially characterized as a modulator of axonal guidance during development, but are now recognized as a regulator of a wide range of developmental events including morphogenesis and angiogenesis, and activities of the immune system. Owing to the development of next-generation sequencing technologies together with other useful DNA assays, it has also become clear that semaphorin signaling plays a crucial role in many congenital diseases such as retinal degeneration and congenital heart defects. This review summarizes the recent knowledge about the relationship between a variety of congenital diseases and semaphorin signaling.

Keywords: congenital heart defects; plexin; retinal degeneration; semaphorin.

Publication types

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

MeSH terms

  • Animals
  • CHARGE Syndrome / metabolism
  • Hirschsprung Disease / metabolism
  • Humans
  • Kallmann Syndrome / metabolism
  • Retinal Degeneration / metabolism
  • Scimitar Syndrome / metabolism
  • Semaphorins / physiology*
  • Signal Transduction*
  • Tetralogy of Fallot / metabolism
  • Truncus Arteriosus, Persistent / metabolism

Substances

  • Semaphorins