2021
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans
Barak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O, Erson-Omay EZ, Harmancı AS, Guy M, Gültekin B, Kilic D, Rai DK, Goc N, Aguilera SM, Gülez B, Altinok S, Ozcan K, Yarman Y, Coskun S, Sempou E, Deniz E, Hintzen J, Cox A, Fomchenko E, Jung SW, Ozturk AK, Louvi A, Bilgüvar K, Connolly ES, Khokha MK, Kahle KT, Yasuno K, Lifton RP, Mishra-Gorur K, Nicoli S, Günel M. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans. Nature Medicine 2021, 27: 2165-2175. PMID: 34887573, PMCID: PMC8768030, DOI: 10.1038/s41591-021-01572-7.Peer-Reviewed Original ResearchMeSH KeywordsBrainCyclophilinsExome SequencingHumansIntracranial AneurysmMutationNeovascularization, PathologicRNA-Binding ProteinsWnt Signaling PathwayConceptsGenome-wide association studiesPeptidyl-prolyl cis-transPathogenesis of IAContribution of variantsCommon genetic variantsVertebrate modelDeleterious mutationsWnt activatorAssociation studiesWhole-exome sequencingSignificant enrichmentGenetic variantsWntAngiogenesis regulatorsMutationsGene mutationsBrain angiogenesisIntracranial aneurysm ruptureJMJD6AngiogenesisCerebrovascular morphologyCerebrovascular integrityIntracerebral hemorrhageAneurysm ruptureVariants
2015
Reck enables cerebrovascular development by promoting canonical Wnt signaling
Ulrich F, Carretero-Ortega J, Menéndez J, Narvaez C, Sun B, Lancaster E, Pershad V, Trzaska S, Véliz E, Kamei M, Prendergast A, Kidd KR, Shaw KM, Castranova DA, Pham VN, Lo BD, Martin BL, Raible DW, Weinstein BM, Torres-Vázquez J. Reck enables cerebrovascular development by promoting canonical Wnt signaling. Development 2015, 143: 147-159. PMID: 26657775, PMCID: PMC4725199, DOI: 10.1242/dev.123059.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, Genetically ModifiedBlood-Brain BarrierBrainCell LineCerebrovascular CirculationEndothelial CellsGPI-Linked ProteinsHuman Umbilical Vein Endothelial CellsHumansMutationNeovascularization, PhysiologicVascular Endothelial Growth Factor AWnt Signaling PathwayZebrafishZebrafish ProteinsConceptsCanonical WntForward genetic screenCysteine-rich proteinBlood-brain barrierVascular endothelial growth factorReversion-inducing cysteine-rich proteinGenetic screenLethal mutantsProper expressionEndothelial cellsInactivating lesionMolecular markersPivotal modulatorCancer biologyCultured endothelial cellsKazal motifsVascular biologyProtective interfaceMutantsBrain blood vesselsEndothelial growth factorWntBBB formationBiologyRECK