Takumi Nakamura
Associate Research ScientistCards
About
Research
Publications
2026
Competing programs shape cortical sensorimotor-association axis development.
Tsyporin J, Zhang M, Qi C, Segal A, Li X, Kim H, Choi SH, Pavlovic I, Bandiera S, Finn T, Kim SK, Shibata A, Nakamura T, Onishi K, Zhang Z, Hammarlund E, Su G, Salla N, Kachko J, Hawley C, Li S, Doyle DZ, Peng X, Nottoli T, Ruiz-Reig N, Tissir F, Nakagawa Y, Herzog E, Ma S, Gobeske K, Pattabiraman K, Shimogori T, Duque A, Fornito A, Huang H, Shibata M, Chen B, Sestan N. Competing programs shape cortical sensorimotor-association axis development. Nature 2026 PMID: 42386980, DOI: 10.1038/s41586-026-10699-x.Peer-Reviewed Original Research
2025
Possible role of mosaic mutations of neurodevelopmental disorder-related genes in bipolar disorder: Lessons from Kmt2c chimeric heterozygous knockout mice
Nakamura T, Nakajima K, Fujimori-Tonou N, Kasahara T, Tsuboi T, Kato T. Possible role of mosaic mutations of neurodevelopmental disorder-related genes in bipolar disorder: Lessons from Kmt2c chimeric heterozygous knockout mice. Neuroscience Research 2025, 217: 104910. PMID: 40414358, DOI: 10.1016/j.neures.2025.05.005.Peer-Reviewed Original Researchbipolar disorderspectrum of bipolar disordersautism-like phenotypeautism spectrum disorderautism-like behaviorsdepression-like episodesknockout micemosaic mutationsheterozygous knockout micemental disordersspectrum disorderKleefstra syndromegenetic architecture of bipolar disorderdisorderssymptomatic spectrumanxietyexome sequencing analysisgenetic architecturesequence analysiscausative genesmosaic micegenessomatic mutationsautismKMT2C
2024
Transcriptomic dysregulation and autistic-like behaviors in Kmt2c haploinsufficient mice rescued by an LSD1 inhibitor
Nakamura T, Yoshihara T, Tanegashima C, Kadota M, Kobayashi Y, Honda K, Ishiwata M, Ueda J, Hara T, Nakanishi M, Takumi T, Itohara S, Kuraku S, Asano M, Kasahara T, Nakajima K, Tsuboi T, Takata A, Kato T. Transcriptomic dysregulation and autistic-like behaviors in Kmt2c haploinsufficient mice rescued by an LSD1 inhibitor. Molecular Psychiatry 2024, 29: 2888-2904. PMID: 38528071, PMCID: PMC11420081, DOI: 10.1038/s41380-024-02479-8.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAutism Spectrum DisorderAutistic DisorderBehavior, AnimalBrainChromosome DeletionChromosomes, Human, Pair 9Craniofacial AbnormalitiesDisease Models, AnimalFemaleHaploinsufficiencyHeart Defects, CongenitalHistone DemethylasesHistone-Lysine N-MethyltransferaseIntellectual DisabilityMaleMiceMice, Inbred C57BLTranscriptomeConceptslysine-specific histone demethylase 1lysine‐specific histone demethylase 1 inhibitorassociated with autism spectrum disorderheterozygous loss-of-function variantshistone H3 lysine 4autistic-like behaviorsloss-of-function variantsgenome-wide associationH3 lysine 4ASD risk genesregulation of chromatinsingle-cell RNA sequencingheterozygous frameshift mutationworking memorymutant miceChIP-seqlysine 4downregulated DEGscategories of psychiatric disordersexome sequencingpathogenesis of neurodevelopmental disorderstranscriptome analysisrisk genesdownregulated genestranscriptomic dysregulationTopologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk
Nakamura T, Ueda J, Mizuno S, Honda K, Kazuno A, Yamamoto H, Hara T, Takata A. Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk. Cell Genomics 2024, 4: 100488. PMID: 38280381, PMCID: PMC10879036, DOI: 10.1016/j.xgen.2024.100488.Peer-Reviewed Original ResearchConceptswhole-genome sequencingASD geneswhole-genome sequencing datatopologically associating domainsinfluence multiple genesgene regulatory mechanismsASD-associated genesgenetic architectureASD heritabilitymultiple genesASD probandspromoter variantsgenesautism spectrum disorder riskhuman induced pluripotent stem cellspromoterpluripotent stem cellsTADstudies of autism spectrum disordervariantsautism spectrum disorderstem cellssequenceprobandsheritability
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 Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsmolecular 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 validityGWAS-identified bipolar disorder risk allele in the FADS1/2 gene region links mood episodes and unsaturated fatty acid metabolism in mutant mice
Yamamoto H, Lee-Okada H, Ikeda M, Nakamura T, Saito T, Takata A, Yokomizo T, Iwata N, Kato T, Kasahara T. GWAS-identified bipolar disorder risk allele in the FADS1/2 gene region links mood episodes and unsaturated fatty acid metabolism in mutant mice. Molecular Psychiatry 2023, 28: 2848-2856. PMID: 36806390, PMCID: PMC10615742, DOI: 10.1038/s41380-023-01988-2.Peer-Reviewed Original ResearchConceptsgenome-wide association studiesfatty acid desaturaselarge-scale genome-wide association studiesmutant micefatty acid metabolismunsaturated fatty acid metabolismassociation studiesdocosahexaenoic acidgene regionheterozygous mutant micebipolar disordereicosapentaenoic acidsusceptibility allelesrisk allelesshorter immobility timebehavioral despair testacid metabolismwild-typeabnormal circadian rhythmtreatment of BDmood stabilizer lithiummodel of BDFADS1/2alleleslipid composition
2021
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder
Nishioka M, Kazuno A, Nakamura T, Sakai N, Hayama T, Fujii K, Matsuo K, Komori A, Ishiwata M, Watanabe Y, Oka T, Matoba N, Kataoka M, Alkanaq A, Hamanaka K, Tsuboi T, Sengoku T, Ogata K, Iwata N, Ikeda M, Matsumoto N, Kato T, Takata A. Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder. Nature Communications 2021, 12: 3750. PMID: 34145229, PMCID: PMC8213845, DOI: 10.1038/s41467-021-23453-w.Peer-Reviewed Original ResearchConceptsdevelopmental disorder genesdisorder genespostzygotic mutationdeleterious mutationsGermline De Novo Mutationsloss-of-function mutationsRNA sequencing datagenetic architectureSRCAP genegenesdeleterious onesmutationsgermlinerisk of bipolar disorderbipolar disorderSRCAPtriosprobandssystematic analysisexcitatory neuronsexpressionFunctional and behavioral effects of de novo mutations in calcium-related genes in patients with bipolar disorder
Nakamura T, Nakajima K, Kobayashi Y, Itohara S, Kasahara T, Tsuboi T, Kato T. Functional and behavioral effects of de novo mutations in calcium-related genes in patients with bipolar disorder. Human Molecular Genetics 2021, 30: 1851-1862. PMID: 34100076, PMCID: PMC8444452, DOI: 10.1093/hmg/ddab152.Peer-Reviewed Original ResearchConceptsloss-of-functionbipolar disorderde novo mutationscalcium-related genesgenetic architectureanimal models of bipolar disordermodel of bipolar disordergenetic architecture of bipolar disorderstudies of bipolar disorderidentified de novo mutationsloss-of-function mutationsprotein-altering mutationsmutant miceschizoaffective disorderBipolar Ibehavioral effectstruncated proteinbehavioral alterationsinhibit endocytosisdiminished attentionknock-in mouse linecellular functionsmental illnessbehavioral screeningEHD1
2020
Glutamine-induced signaling pathways via amino acid receptors in enteroendocrine L cell line
Nakamura T, Harada K, Kamiya T, Takizawa M, Küppers J, Nakajima K, Gütschow M, Kitaguchi T, Ohta K, Kato T, Tsuboi T. Glutamine-induced signaling pathways via amino acid receptors in enteroendocrine L cell line. Journal Of Molecular Endocrinology 2020, -1: 133-143. PMID: 31940281, DOI: 10.1530/jme-19-0260.Peer-Reviewed Original ResearchConceptsglucagon-like peptide-1 secretionGLUTag cellsglucagon-like peptide-1enteroendocrine L cell linecAMP intracellular concentrationG protein-coupled receptor family C group 6 member Aenteroendocrine L cellsL cell lineinduce insulin secretioncAMP dynamicsL-glutamine transportGLP-1 secretioncAMP regulationsecretion regulationCRISPR/Cas9 systemsignaling pathwaytaste receptor type 1 member 1calcium-sensing receptor antagonistL cellsCa2+amino acid receptorsamino acidsintracellular Ca2+TAS1R3TAS1R1
2018
Quantitative evaluation of incomplete preweaning lethality in mice by using the CRISPR/Cas9 system
Nakamura T, Nakajima K, Ohnishi T, Yoshikawa T, Nakanishi M, Takumi T, Tsuboi T, Kato T. Quantitative evaluation of incomplete preweaning lethality in mice by using the CRISPR/Cas9 system. Scientific Reports 2018, 8: 16025. PMID: 30375401, PMCID: PMC6207718, DOI: 10.1038/s41598-018-34270-5.Peer-Reviewed Original ResearchConceptsInternational Mouse Phenotyping Consortiumloss-of-functiongenome-edited micepreweaning lethalitydisease-related genesframeshift allelehomozygous KO miceIMPC datamolecular biology techniquesgenome editingmouse mutantsincomplete penetranceCRISPR/Cas9 systemgenesassociated with lethalityEhd1 genemouse phenotypehomozygous knockout micemice mutantsCRISPR/Cas9cell linesmutantsbiology techniquesallelesKO mice