2017
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis
Timberlake AT, Furey CG, Choi J, Nelson-Williams C, Loring E, Galm A, Kahle K, Steinbacher D, Larysz D, Persing J, Lifton R, Bilguvar K, Mane S, Tikhonova I, Castaldi C, Knight J. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: e7341-e7347. PMID: 28808027, PMCID: PMC5584457, DOI: 10.1073/pnas.1709255114.Peer-Reviewed Original ResearchConceptsBone morphogenetic proteinRas/ERKDe novo mutationsNovo mutationsRas/ERK pathwayDamaging de novo mutationsHigh locus heterogeneityRare syndromic diseaseCommon risk variantsInhibitor of WntSyndromic craniosynostosesNew genesParent-offspring triosSyndromic diseaseMorphogenetic proteinsNegative regulatorERK pathwayMore cranial suturesGenesMidline craniosynostosisRisk variantsWntLocus heterogeneityMutationsExome sequencing
2015
Vascular Endothelial Growth Factor Receptor 3 Controls Neural Stem Cell Activation in Mice and Humans
Han J, Calvo CF, Kang TH, Baker KL, Park JH, Parras C, Levittas M, Birba U, Pibouin-Fragner L, Fragner P, Bilguvar K, Duman RS, Nurmi H, Alitalo K, Eichmann AC, Thomas JL. Vascular Endothelial Growth Factor Receptor 3 Controls Neural Stem Cell Activation in Mice and Humans. Cell Reports 2015, 10: 1158-1172. PMID: 25704818, PMCID: PMC4685253, DOI: 10.1016/j.celrep.2015.01.049.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell DifferentiationCell ProliferationCells, CulturedEmbryonic Stem CellsExtracellular Signal-Regulated MAP KinasesHippocampusHumansMiceMice, Inbred C57BLNeural Stem CellsNeurogenesisProto-Oncogene Proteins c-aktRecombinant ProteinsSignal TransductionVascular Endothelial Growth Factor CVascular Endothelial Growth Factor Receptor-3ConceptsHuman embryonic stem cellsNeural stem cellsVascular endothelial growth factor receptor 3Growth factor receptor 3NSC activationStem cellsProgenitor cellsAdult hippocampal neural stem cellsEmbryonic stem cellsNeural stem cell activationStem cell activationQuiescent neural stem cellsNeural progenitor cellsCell fateReceptor 3Specific regulatorsAdult mammalian hippocampusMolecular mechanismsCell cycleHippocampal neural stem cellsLigand VEGFERK pathwayConditional deletionNew neuronsVEGFR3