2023
Haematopoietic stem and progenitor cell heterogeneity is inherited from the embryonic endothelium
Ghersi J, Baldissera G, Hintzen J, Luff S, Cheng S, Xia I, Sturgeon C, Nicoli S. Haematopoietic stem and progenitor cell heterogeneity is inherited from the embryonic endothelium. Nature Cell Biology 2023, 25: 1135-1145. PMID: 37460694, PMCID: PMC10415179, DOI: 10.1038/s41556-023-01187-9.Peer-Reviewed Original ResearchConceptsHaemogenic endothelial cellsHaematopoietic stemPost-transcriptional repressionHuman pluripotent stem cellsProgenitor cell heterogeneityCell cycle statePluripotent stem cellsG2/MZebrafish leadsAorta-gonadBlood lineagesEmbryonic endotheliumExpansion of HSPCsEndothelial cellsProliferative outputDifferent cell cycle statesLymphoid progenitorsCell heterogeneityLineagesMiR-128Jag1bHSPCsMyeloid lineageStem cellsCycle state
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