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
2006
Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia
Yasuno K, Ando S, Misumi S, Makino S, Kulski JK, Muratake T, Kaneko N, Amagane H, Someya T, Inoko H, Suga H, Kanemoto K, Tamiya. Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2006, 144B: 250-253. PMID: 17066476, DOI: 10.1002/ajmg.b.30443.Peer-Reviewed Original ResearchMeSH KeywordsAllelesFemaleGenetic Predisposition to DiseaseHumansIon ChannelsLogistic ModelsMaleMembrane Transport ProteinsMitochondrial ProteinsMitochondrial Uncoupling ProteinsModels, GeneticNerve Tissue ProteinsNeuronsPolymorphism, Single NucleotideSchizophreniaSoftwareUncoupling Protein 1Uncoupling Protein 2ConceptsNeuronal UCPsCase-control studyPathophysiology of schizophreniaHomozygous risk allelesLogistic regression analysisNeuroprotective effectsTag SNPsBrain tissueModest associationRisk allelesSchizophreniaOxidative stressMitochondrial uncoupling protein (UCP) geneMitochondrial dysfunctionImportant involvementSynergistic interactionUncoupling Protein GeneGenetic etiologySignificant synergistic interactionMultifactor dimensionality reduction methodRegression analysisMultiple comparisonsUCP2Synergistic associationAssociation