Author

Hitoshi Osaka

Jichi Medical UniversityORCID 0000-0002-1320-1165Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Research Focus:cell type annotation· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Assay:proteomics· 1

Frequent Co-Authors

Kazuhiro HaginoyaiD· 2 shared Adrian Walton MooreiD· 1 shared Akihiko MiyauchiiD· 1 shared Akira OhtakeiD· 1 shared Annarita ScardamagliaiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared Antoine CivitiD· 1 shared Antonio VitobelloiD· 1 shared

Activity by Year

2022-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 19 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Kazuhiro HaginoyaORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 26, 2023

Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia

Yuji Nakamura, Issei S. Shimada, Reza Maroofian…·Shinji Saitoh

This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.

1 citation

humanbulk RNA-seq

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Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedApr 13, 2023

Strategic validation of variants of uncertain significance in ECHS1 genetic testing

Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki…·Yasushi Okazaki

This study validates variants of uncertain significance in ECHS1 using functional assays and multi-omics analysis, identifying new pathogenic variants and cases of mitochondrial disease.

8 citations

humanbulk RNA-seq

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NeuroscienceScientific ReportsPeer-reviewedMay 17, 2022

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

Toshimitsu Suzuki, Tetsuya Tatsukawa, Genki Sudo…·Kazuhiro Yamakawa

This study identifies CUX2 and CASP variants in temporal lobe epilepsy patients and shows they increase seizure susceptibility and excitatory synaptic transmission.

13 citations

humanmouse

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