Kazuhiro Ogata

International University of Health and Welfare — Japan

Biochemistry, Genetics and Molecular Biology · Life Sciences

48h-index9.3kcitations259works3.32yr avg
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Research Topics

RNA and protein synthesis mechanisms(35), RNA modifications and cancer(32), Genetics and Neurodevelopmental Disorders(22), Genomics and Chromatin Dynamics(18), DNA and Nucleic Acid Chemistry(16)

Publications258 total

Un variant de CDC42 révèle une nouvelle maladie auto-inflammatoire et le mécanisme d’activation de l’inflammasome pyrine
Revue du Rhumatisme·2025
Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity
Journal of Human Genetics·2025
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2
Journal of Human Genetics·2025
Hemizygous SMARCA1 variants cause X-linked intellectual disability
Journal of Human Genetics·2025· 1 cited
Germline-derived <i>GNAS</i>-Gsα variants associated with both gain-of-function and loss-of-function phenotypes
European Journal of Endocrinology·2025· 2 cited
A p.N92K variant of the GTPase RAC3 disrupts cortical neuron migration and axon elongation
Journal of Biological Chemistry·2025· 1 citedOpen Access
Clinical and genetic spectrum of patients with IRF2BPL syndrome
Journal of Human Genetics·2025
Biallelic missense CEP55 variants cause prenatal MARCH syndrome
Journal of Human Genetics·2024· 1 cited
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II
Journal of Human Genetics·2024· 2 cited
Structure of the human Bre1 complex bound to the nucleosome
Nature Communications·2024· 14 citedOpen Access
A Compact Reprogrammed Genetic Code for De Novo Discovery of Proteolytically Stable Thiopeptides
Journal of the American Chemical Society·2024· 15 citedOpen Access
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
Journal of Human Genetics·2023· 12 cited
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association
Scientific Reports·2023· 7 citedOpen Access
Biallelic structural variations within<i>FGF12</i>detected by long-read sequencing in epilepsy
Life Science Alliance·2023· 17 citedOpen Access
Structure of the human Bre1 complex bound to the nucleosome
2023· 1 citedOpen Access
Three <scp>KINSSHIP</scp> syndrome patients with mosaic and germline <scp> <i>AFF3</i> </scp> variants
Clinical Genetics·2022· 9 cited
Structural basis of transcription regulation by CNC family transcription factor, Nrf2
Nucleic Acids Research·2022· 48 citedOpen Access
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
2022· 6 citedOpen Access
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Genetics in Medicine·2022· 34 cited
De Novo Discovery of Thiopeptide Pseudo-natural Products Acting as Potent and Selective TNIK Kinase Inhibitors
Journal of the American Chemical Society·2022· 56 citedOpen Access
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Frequent Co-authors

Masaaki Shiina(29), Naomichi Matsumoto(26), Hirotomo Saitsu(24), Noriko Miyake(22), Mitsuko Nakashima(17), Yoshinori Tsurusaki(16), Satoko Miyatake(14), Mitsuhiro Kato(12), Takeshi Mizuguchi(9), Nobuhiko Okamoto(8), Hitoshi Osaka(7), Akinori Sarai(7), Shunsuke Ishii(7), Eriko Koshimizu(7), Keisuke Hamada(6), Jun Tohyama(6), Hiroshi Doi(6), Haruki Nakamura(6), Yoshifumi Nishimura(6), Kiyomi Nishiyama(5)