2023
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
Zhao S, Mekbib K, van der Ent M, Allington G, Prendergast A, Chau J, Smith H, Shohfi J, Ocken J, Duran D, Furey C, Hao L, Duy P, Reeves B, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu P, Wang Y, Mane S, Piwowarczyk P, Fehnel K, See A, Iskandar B, Aagaard-Kienitz B, Moyer Q, Dennis E, Kiziltug E, Kundishora A, DeSpenza T, Greenberg A, Kidanemariam S, Hale A, Johnston J, Jackson E, Storm P, Lang S, Butler W, Carter B, Chapman P, Stapleton C, Patel A, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay E, Zhao H, Moreno-De-Luca A, Proctor M, Smith E, Orbach D, Alper S, Nicoli S, Boggon T, Lifton R, Gunel M, King P, Jin S, Kahle K. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. Nature Communications 2023, 14: 7452. PMID: 37978175, PMCID: PMC10656524, DOI: 10.1038/s41467-023-43062-z.Peer-Reviewed Original ResearchConceptsEphrin receptor B4Galen malformationBrain arteriovenous malformationsP120 RasGAPTransmitted variantsArteriovenous malformationsDe novo variantsSingle-cell transcriptomesSignificant burdenCerebrovascular developmentIntegrative genomic analysisEndothelial cellsVenous networkAdditional probandsMalformationsNovo variantsMissense variantsGenomic analysisDevelopmental angiogenesisVascular developmentDamaging variantsVeinRasGAPIntegrated analysisPatients
2013
A truncation allele in vascular endothelial growth factor c reveals distinct modes of signaling during lymphatic and vascular development
Villefranc JA, Nicoli S, Bentley K, Jeltsch M, Zarkada G, Moore JC, Gerhardt H, Alitalo K, Lawson ND. A truncation allele in vascular endothelial growth factor c reveals distinct modes of signaling during lymphatic and vascular development. Development 2013, 140: 1497-1506. PMID: 23462469, PMCID: PMC3596992, DOI: 10.1242/dev.084152.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAnimalsAnimals, Genetically ModifiedAutocrine CommunicationBlood VesselsCell MovementCodon, NonsenseEmbryo, NonmammalianFemaleLymphatic SystemMiceMice, KnockoutNeovascularization, PhysiologicParacrine CommunicationProtein IsoformsSignal TransductionVascular Endothelial Growth Factor CZebrafishZebrafish ProteinsConceptsMigratory persistenceLymphatic developmentSensitized genetic backgroundTip cell positionVascular endothelial growth factor CEndothelial cell dynamicsDeficient endothelial cellsFactor CTime-lapse analysisMutant embryosVertebrate embryosTruncation alleleEctopic blood vesselsFilopodia stabilityAngiogenesis defectsDistinct modesEndothelial cellsDevelopmental angiogenesisLymphatic vasculatureVascular developmentLymphatic defectsGenetic backgroundReceptor FLT4VEGFCCell position
2012
miRNAs in endothelial cell signaling: The endomiRNAs
Santoro M, Nicoli S. miRNAs in endothelial cell signaling: The endomiRNAs. Experimental Cell Research 2012, 319: 1324-1330. PMID: 23262024, PMCID: PMC3648629, DOI: 10.1016/j.yexcr.2012.12.009.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBlood VesselsEndothelial CellsHumansMicroRNAsMultigene FamilyNeovascularization, PhysiologicRNA InterferenceSignal Transduction