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

Abstract:

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 recogn...

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Publication status:
Published

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Publisher copy:
10.1038/ng.2539

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, RDM Clinical Laboratory Sciences
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Weatherall Insti. of Molecular Medicine
Role:
Author
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Journal:
Nature genetics
Volume:
45
Issue:
3
Pages:
308-313
Publication date:
2013-03-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:adc5ca06-c2b0-4ade-aec3-636f2daca465
Source identifiers:
375699
Local pid:
pubs:375699

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