Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis
Eswarakumar VP, Özcan F, Lew ED, Bae JH, Tomé F, Booth CJ, Adams DJ, Lax I, Schlessinger J. Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2006, 103: 18603-18608. PMID: 17132737, PMCID: PMC1693709, DOI: 10.1073/pnas.0609157103.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCraniofacial DysostosisCraniosynostosesGene Expression RegulationMiceMutagenesis, Site-DirectedNIH 3T3 CellsReceptor, Fibroblast Growth Factor, Type 2Signal TransductionConceptsFGF receptorsDocking protein FRS2alphaCommon craniofacial abnormalitySelective uncouplingPremature fusionSkull developmentFunction mutationsDominant mutationsNormal skull developmentMurine model systemMutationsSevere bone disordersModel systemFGFR2cCraniofacial abnormalitiesCalvaria organ culturesPathwayOrgan cultureFRS2alphaSkull vaultMutantsPharmacological approachesFusionFGFRUncoupling