Author

Kazuhiro Haginoya

Miyagi Children's HospitalORCID 0000-0003-0150-5716Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Hitoshi OsakaiD· 2 shared Adrian Walton MooreiD· 1 shared Akihiko MiyauchiiD· 1 shared Annarita ScardamagliaiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared Antoine CivitiD· 1 shared Antonio VitobelloiD· 1 shared Atsushi IshiiiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Hitoshi OsakaORCID

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2 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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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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