2024
Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes
Maury E, Jones A, Seplyarskiy V, Nguyen T, Rosenbluh C, Bae T, Wang Y, Abyzov A, Khoshkhoo S, Chahine Y, Zhao S, Venkatesh S, Root E, Voloudakis G, Roussos P, Network B, Park P, Akbarian S, Brennand K, Reilly S, Lee E, Sunyaev S, Walsh C, Chess A. Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. Science 2024, 386: 217-224. PMID: 39388546, PMCID: PMC11490355, DOI: 10.1126/science.adq1456.Peer-Reviewed Original ResearchConceptsTranscription Factor Binding SitesWhole-genome sequencingOpen chromatinMutational processesSomatic mutationsFactor binding sitesSchizophrenia casesSchizophrenia risk genesSomatic mosaicismSomatic variantsRisk genesG mutationGene expressionGermline mutationsBinding sitesGenesMutationsIncreased somatic mutationsChromatinMosaic somatic mutationsPrenatal neurogenesisContext of schizophreniaBrain neuronsSchizophrenia brainVariants
2023
The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research
Nakamura T, Takata A. The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research. Molecular Psychiatry 2023, 28: 1868-1889. PMID: 36878965, PMCID: PMC10575785, DOI: 10.1038/s41380-023-02005-2.Peer-Reviewed Original ResearchConceptsMolecular pathology of schizophreniaCopy number variantsDiscovery of copy number variantsLarge-scale exome sequencing studiesMolecular pathologyExome sequencing studiesDNA sequencesPathology of schizophreniaEpigenomic analysesSequencing studiesSingle genesGenetic variantsRare mutationsMultiple disease modelsGenesGenetic pathologyDisease modelsCurrent knowledgeSchizophrenia brainDisease riskVariantsPostmortem tissueBiological alterationsDNAEtiological validity
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