Nature Communications (May 2017)

Cellular interplay via cytokine hierarchy causes pathological cardiac hypertrophy in RAF1-mutant Noonan syndrome

  • Jiani C. Yin,
  • Mathew J. Platt,
  • Xixi Tian,
  • Xue Wu,
  • Peter H. Backx,
  • Jeremy A. Simpson,
  • Toshiyuki Araki,
  • Benjamin G. Neel

DOI
https://doi.org/10.1038/ncomms15518
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 11

Abstract

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The human congenital disorder Noonan Syndrome (NS) is caused by germ-line mutations that hyperactivate the RAS/ERK signalling pathway, and can feature pathologic cardiac enlargement. Here, the authors find that a complex cellular and molecular interplay involving a cytokine hierarchy underlies cardiac hypertrophy caused by a NS-associatedRafallele.