Featured Publications
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
2011
CCM2 expression during prenatal development and adult human neocortex
Tanriover G, Sozen B, Gunel M, Demir N. CCM2 expression during prenatal development and adult human neocortex. International Journal Of Developmental Neuroscience 2011, 29: 509-514. PMID: 21569831, DOI: 10.1016/j.ijdevneu.2011.04.006.Peer-Reviewed Original ResearchConceptsAdult human neocortexCerebral cavernous malformationsHuman neocortexNeuroglial precursor cellsPrenatal developmentMeans of immunohistochemistryCentral nervous systemWestern blot analysisHuman brain developmentVascular malformationsAdult neocortexGlial cellsCavernous malformationsCCM lesionsVascular endotheliumNervous systemVascular channelsBlood vessel formationArterial endotheliumBrain developmentNeocortexExpression patternsEndotheliumPrecursor cellsCCM loci