| http://purl.uniprot.org/citations/23354439 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23354439 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23354439 | http://www.w3.org/2000/01/rdf-schema#comment | "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 recognized clinical disorder include multiple-suture synostosis, craniofacial dysmorphism, Chiari malformation and language delay. Mice with functional Erf levels reduced to ∼30% of normal exhibit postnatal multiple-suture synostosis; by contrast, embryonic calvarial development appears mildly delayed. Using chromatin immunoprecipitation in mouse embryonic fibroblasts and high-throughput sequencing, we find that ERF binds preferentially to elements away from promoters that contain RUNX or AP-1 motifs. This work identifies ERF as a novel regulator of osteogenic stimulation by RAS-ERK signaling, potentially by competing with activating ETS factors in multifactor transcriptional complexes."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2539"xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2539"xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Hughes J."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Hughes J."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Johnson D."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Johnson D."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Stewart F.J."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Stewart F.J."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "McGowan S.J."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "McGowan S.J."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Taylor S."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Taylor S."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Healy C."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Healy C."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Wilson L.C."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Wilson L.C."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Verloes A."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Verloes A."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Sharpe P.T."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Sharpe P.T."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Hammond P."xsd:string |
| http://purl.uniprot.org/citations/23354439 | http://purl.uniprot.org/core/author | "Hammond P."xsd:string |