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
2018
Whole-Exome Sequencing of an Exceptional Longevity Cohort
Nygaard HB, Erson-Omay EZ, Wu X, Kent BA, Bernales CQ, Evans DM, Farrer MJ, Vilariño-Güell C, Strittmatter SM. Whole-Exome Sequencing of an Exceptional Longevity Cohort. The Journals Of Gerontology Series A 2018, 74: 1386-1390. PMID: 29750252, PMCID: PMC6696723, DOI: 10.1093/gerona/gly098.Peer-Reviewed Original ResearchConceptsGenetic basisRare protein-altering variantsSearch of genesGene burden analysisProtein-altering variantsIndividual genesWhole-exome sequencingAlzheimer's diseaseAging phenotypesGenesRisk variantsGenetic variantsGenetic contributionExceptional longevityExome sequencingLongevity cohortBurden analysisRare variantsNeurodegenerative disordersSequencingPhenotypeLongevityNominal statistical significanceVariantsMDN1