Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

@article{Twigg2013ReducedDO,
  title={Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis},
  author={Stephen R F Twigg and Elena Vorgia and Simon J. McGowan and Ioanna Peraki and Aim{\'e}e L. Fenwick and Vikram Sharma and Maryline Allegra and Andreas Zaragkoulias and Elham Sadighi Akha and Samantha J L Knight and Helen Lord and T. C. U. Forward Lester and Louise Izatt and Anne Katrin Lampe and Shehla N. Mohammed and Fiona J. Stewart and Alain Verloes and Louise E. Wilson and Chris Healy and Paul T Sharpe and Peter Hammond and Jim Hughes and Stephen Taylor and David Johnson and Steven A. Wall and George Mavrothalassitis and Andrew O. M. Wilkie},
  journal={Nature Genetics},
  year={2013},
  volume={45},
  pages={308-313}
}
The extracellular signal–related kinases 1 and 2 (ERK1/2) are key proteins mediating mitogen-activated protein kinase signaling downstream of RAS: phosphorylation of ERK1/2 leads to nuclear uptake and modulation of multiple targets. Here, we show that reduced dosage of ERF, which encodes an inhibitory ETS transcription factor directly bound by ERK1/2 (refs. 2,3,4,5,6,7), causes complex craniosynostosis (premature fusion of the cranial sutures) in humans and mice. Features of this newly… CONTINUE READING
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