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

doi:10.1038/ng.2539

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

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

Nature genetics - 1 Mar 2013

Twigg Stephen R F, Vorgia Elena, McGowan Simon J, Peraki Ioanna, Fenwick Aimée L, Sharma Vikram P, Allegra Maryline, Zaragkoulias Andreas, Sadighi Akha Elham, Knight Samantha J L, Lord Helen, Lester Tracy, Izatt Louise, Lampe Anne K, Mohammed Shehla N, Stewart Fiona J, Verloes Alain, Wilson Louise C, Healy Chris, Sharpe Paul T, Hammond Peter, Hughes Jim, Taylor Stephen, Johnson David, Wall Steven A, Mavrothalassitis George, Wilkie Andrew O M

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cranial Sutures

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Craniosynostoses

Share to Embryonic Development

Share to Fibroblasts

Share to MAP Kinase Signaling System

Share to Osteogenesis

Share to Repressor Proteins

Share to Transcription Factor AP-1

Source

Open in PubMed Open full text

Identifiers

PMID: 23354439
DOI: 10.1038/ng.2539
PMCID: PMC3683605

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.PMID 23354439Read ↗

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.Semantic proximity Read ↗

Noonan syndrome-like phenotype associated with an ERF frameshift variant.Semantic proximity Read ↗

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.Semantic proximity Read ↗

Erf Affects Commitment and Differentiation of Osteoprogenitor Cells in Cranial Sutures via the Retinoic Acid Pathway.Semantic proximity Read ↗

Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways.Semantic proximity Read ↗

Identification of conserved skeletal enhancers associated with craniosynostosis risk genes.Semantic proximity Read ↗

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.Semantic proximity Read ↗

Transcriptional repressor erf determines extraembryonic ectoderm differentiation.Semantic proximity Read ↗

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.Semantic proximity Read ↗

ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.Semantic proximity Read ↗

Identification of conserved skeletal enhancers associated with craniosynostosis risk genesSemantic proximity Read ↗

Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.