2018
Cerebrovascular disorders associated with genetic lesions
Karschnia P, Nishimura S, Louvi A. Cerebrovascular disorders associated with genetic lesions. Cellular And Molecular Life Sciences 2018, 76: 283-300. PMID: 30327838, PMCID: PMC6450555, DOI: 10.1007/s00018-018-2934-5.Peer-Reviewed Original ResearchConceptsCerebrovascular disordersGenetic lesionsCerebral blood flowRational therapeutic approachMolecular mechanismsCerebrovascular diseaseMechanistic understandingTherapeutic approachesBlood flowDisease pathogenesisSporadic formsGenomic findingsCurrent knowledgeGenetic formsDisordersLesionsBlood vessel structureWider implicationsPathogenesisAbnormalitiesDiseaseVessel structure
2010
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilgüvar K, Öztürk A, Louvi A, Kwan KY, Choi M, Tatlı B, Yalnızoğlu D, Tüysüz B, Çağlayan A, Gökben S, Kaymakçalan H, Barak T, Bakırcıoğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yılmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçınkaya C, Kumandaş S, Topçu M, Özmen M, Šestan N, Lifton RP, State MW, Günel M. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010, 467: 207-210. PMID: 20729831, PMCID: PMC3129007, DOI: 10.1038/nature09327.Peer-Reviewed Original ResearchConceptsAbnormal cortical developmentWD repeat domain 62 (WDR62) geneSevere brain malformationsWhole-exome sequencingBrain abnormalitiesBrain malformationsCortical developmentMolecular pathogenesisCerebellar hypoplasiaWDR62 mutationsEmbryonic neurogenesisDiagnostic classificationMicrocephaly genesSmall family sizeGenetic heterogeneityWide spectrumRecessive mutationsPachygyriaPathogenesisHypoplasiaNeocortexNeurogenesisAbnormalitiesMalformationsMutations