Publications by authors named "Kazuhiro Ogata"

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Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2.
Yukina Hayashi, Keisuke Hamada, Kavitha Rethanavelu, Naomi Tsuchida, Yuri Uchiyama, Kazuhiro Ogata

J Hum Genet· December 2025

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Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.
Atsuhiro Ozaki, Masamune Sakamoto, Satoko Kumada, Keisuke Hamada, Kazuhiro Ogata

J Hum Genet· November 2025

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Hemizygous SMARCA1 variants cause X-linked intellectual disability.
Naoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, Kotaro Yuge, Masamune Sakamoto, Kazuhiro Ogata

J Hum Genet· July 2025

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Clinical and genetic spectrum of patients with IRF2BPL syndrome.
Kazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, Masamune Sakamoto, Ryosuke Miyamoto, Kazuhiro Ogata

J Hum Genet· April 2025

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A p.N92K variant of the GTPase RAC3 disrupts cortical neuron migration and axon elongation.
Ryota Sugawara, Keisuke Hamada, Hidenori Ito, Marcello Scala, Hiroshi Ueda, Kazuhiro Ogata

J Biol Chem· April 2025

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Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.
Atilano Carcavilla, Arrate Pereda, Mami Miyado, Maki Fukami, Fumiko Kato, Kazuhiro Ogata, Tsutomu Ogata

Eur J Endocrinol· March 2025

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Biallelic missense CEP55 variants cause prenatal MARCH syndrome.
Li Fu, Yuka Yamamoto, Rie Seyama, Nana Matsuzawa, Mariko Nagaoka, Kazuhiro Ogata

J Hum Genet· January 2025

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Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.
Zheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, Yael Wilnai, Akira Kinoshita, Kazuhiro Ogata

J Hum Genet· November 2024

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Symbolic model checking quantum circuits in Maude.
Canh Minh Do, Kazuhiro Ogata

PeerJ Comput Sci· June 2024

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A Compact Reprogrammed Genetic Code for De Novo Discovery of Proteolytically Stable Thiopeptides.
Alexander A Vinogradov, Yue Zhang, Keisuke Hamada, Shunsuke Kobayashi, Kazuhiro Ogata

J Am Chem Soc· March 2024

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Structure of the human Bre1 complex bound to the nucleosome.
Shuhei Onishi, Kotone Uchiyama, Ko Sato, Chikako Okada, Shunsuke Kobayashi, Kazuhiro Ogata

Nat Commun· March 2024

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Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, Keita Miyoshi, Keiji Tsuchimoto, Kazuhiro Ogata

J Hum Genet· February 2024

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Modelling and verification of post-quantum key encapsulation mechanisms using Maude.
Víctor García, Santiago Escobar, Kazuhiro Ogata, Sedat Akleylek, Ayoub Otmani

PeerJ Comput Sci· September 2023

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Hybrid post-quantum Transport Layer Security formal analysis in Maude-NPA and its parallel version.
Duong Dinh Tran, Canh Minh Do, Santiago Escobar, Kazuhiro Ogata

PeerJ Comput Sci· September 2023

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Biallelic structural variations within detected by long-read sequencing in epilepsy.
Sachiko Ohori, Akihiko Miyauchi, Hitoshi Osaka, Charles Marques Lourenco, Naohiro Arakaki, Kazuhiro Ogata

Life Sci Alliance· August 2023

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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini, Alessio Masi, Sophie Hambleton, Kazuhiro Ogata

Am J Hum Genet· August 2023

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A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.
Rie Seyama, Masashi Nishikawa, Yuri Uchiyama, Keisuke Hamada, Yuka Yamamoto, Kazuhiro Ogata

Sci Rep· June 2023

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The influence of Bouba- and Kiki-like shape on perceived taste of chocolate pieces.
Kazuhiro Ogata, Reo Gakumi, Atsushi Hashimoto, Yoshitaka Ushiku, Shigeo Yoshida

Front Psychol· June 2023

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Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
Yuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, Shimakawa Shuichi, Kei Ohashi, Kazuhiro Ogata

Clin Genet· May 2023

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Transport Layer Security 1.0 handshake protocol formal verification case study: How to use a proof script generator for existing large proof scores.
Duong Dinh Tran, Thet Wai Mon, Kazuhiro Ogata

PeerJ Comput Sci· March 2023

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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T Pagnamenta, Kazuhiro Ogata

Genet Med· January 2023

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De Novo Discovery of Thiopeptide Pseudo-natural Products Acting as Potent and Selective TNIK Kinase Inhibitors.
Alexander A Vinogradov, Yue Zhang, Keisuke Hamada, Jun Shi Chang, Chikako Okada, Kazuhiro Ogata

J Am Chem Soc· November 2022

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Structural basis of transcription regulation by CNC family transcription factor, Nrf2.
Toru Sengoku, Masaaki Shiina, Kae Suzuki, Keisuke Hamada, Ko Sato, Kazuhiro Ogata

Nucleic Acids Res· November 2022

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Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Kohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, Keisuke Hamada, Takao Komatsubara, Kazuhiro Ogata

Hum Genet· February 2022

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Structural basis of the regulation of the normal and oncogenic methylation of nucleosomal histone H3 Lys36 by NSD2.
Ko Sato, Amarjeet Kumar, Keisuke Hamada, Chikako Okada, Asako Oguni, Kazuhiro Ogata

Nat Commun· November 2021

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