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 ResearchConceptsGenome-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
2014
miRNAs Expression Profile in Zebrafish Developing Vessels
Ristori E, Nicoli S. miRNAs Expression Profile in Zebrafish Developing Vessels. Methods In Molecular Biology 2014, 1214: 129-150. PMID: 25468601, DOI: 10.1007/978-1-4939-1462-3_7.Peer-Reviewed Original ResearchConceptsExpression profilesZebrafish embryonic developmentSmall RNA librariesSmall noncoding RNAsDeep sequencing strategyQuantification of miRNAsPrimary endothelial cellsMiRNAs expression profilesRNA librariesNovel miRNAEmbryonic developmentNoncoding RNAsEndothelial cellsRNA strategySequence variantsSequencing strategyMiRNAsRNACellsMiRNAEarly stagesFACSAngiogenesisVariants