検索結果 - Tomoo Ogi

Aicardi–Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test 著者: Chikako Senju, Chikako Senju, Chikako Senju, Chikako Senju, Chikako Senju, Yuka Nakazawa, Yuka Nakazawa, Yuka Nakazawa, Mayuko Shimada, Mayuko Shimada, Mayuko Shimada, Dai Iwata, Dai Iwata, Michiko Matsuse, Katsumi Tanaka, Yasushi Miyazaki, Shinichi Moriwaki, Norisato Mitsutake, Tomoo Ogi, Tomoo Ogi, Tomoo Ogi

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Treatment‐resistant schizophrenia with 22q11.2 deletion and additional genetic defects 著者: Sawako Furukawa, Shusei Arafuka, Hidekazu Kato, Tomoo Ogi, Norio Ozaki, Masashi Ikeda, Itaru Kushima

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A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant 著者: Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki, Yosuke Nishio, Tomoo Ogi, Jun Tohyama, Takeshi Ikeuchi

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Extremely low-frequency electromagnetic field induces acetylation of heat shock proteins and enhances protein folding 著者: Zhizhou Huang, Mikako Ito, Shaochuan Zhang, Takuro Toda, Jun-ichi Takeda, Tomoo Ogi, Kinji Ohno

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Inducing multiple nicks promotes interhomolog homologous recombination to correct heterozygous mutations in somatic cells 著者: Akiko Tomita, Hiroyuki Sasanuma, Tomoo Owa, Yuka Nakazawa, Mayuko Shimada, Takahiro Fukuoka, Tomoo Ogi, Shinichiro Nakada

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Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report 著者: Tadashi Nagata, Masaki Matsushita, Kenichi Mishima, Yasunari Kamiya, Kohji Kato, Miho Toyama, Tomoo Ogi, Naoki Ishiguro, Hiroshi Kitoh

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ALS-linked mutant TDP-43 in oligodendrocytes induces oligodendrocyte damage and exacerbates motor dysfunction in mice 著者: Mai Horiuchi, Seiji Watanabe, Okiru Komine, Eiki Takahashi, Kumi Kaneko, Shigeyoshi Itohara, Mayuko Shimada, Tomoo Ogi, Koji Yamanaka

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Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules. 著者: Yumi Okubo, Ritsuko Masuyama, Akira Iwanaga, Yuta Koike, Yutaka Kuwatsuka, Tomoo Ogi, Yosuke Yamamoto, Yuichiro Endo, Hiroshi Tamura, Atsushi Utani

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PCNA ubiquitylation ensures timely completion of unperturbed DNA replication in fission yeast. 著者: Yasukazu Daigaku, Thomas J Etheridge, Yuka Nakazawa, Mayumi Nakayama, Adam T Watson, Izumi Miyabe, Tomoo Ogi, Mark A Osborne, Antony M Carr

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Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels. 著者: Miho Toyama, Yuto Takasaki, Aleksic Branko, Hiroki Kimura, Hidekazu Kato, Yoshihiro Nawa, Itaru Kushima, Kanako Ishizuka, Teppei Shimamura, Tomoo Ogi, Norio Ozaki

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Genetic background variation impacts microglial heterogeneity and disease progression in amyotrophic lateral sclerosis model mice 著者: Okiru Komine, Syuhei Ohnuma, Kunihiko Hinohara, Yuichiro Hara, Mayuko Shimada, Tomohiro Akashi, Seiji Watanabe, Akira Sobue, Noe Kawade, Tomoo Ogi, Koji Yamanaka

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Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant 著者: Moemi Hojo, Noriko Soma, Kei Yamada, Yu Kobayashi, Masaki Miura, Hitomi Fujii, Hiromi Nyuzuki, Yosuke Nishio, Taichi Oso, Tomoo Ogi, Takeshi Ikeuchi, Jun Tohyama

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Utility of nanopore sequencing for detecting pathogens in bronchoalveolar lavage fluid from pediatric patients with respiratory failure 著者: Makoto Yamaguchi, Kazuhiro Horiba, Kazunori Haruta, Suguru Takeuchi, Takako Suzuki, Yuka Torii, Shinji Kawabe, Sho Wada, Takanari Ikeyama, Yoshinori Ito, Tomoo Ogi, Jun-ichi Kawada

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A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review 著者: Sho Tano, Tomomi Kotani, Masato Yoshihara, Noriyuki Nakamura, Seiko Matsuo, Takafumi Ushida, Kenji Imai, Miharu Ito, Yasuyoshi Oka, Emi Sato, Shin Hayashi, Tomoo Ogi, Hiroaki Kajiyama

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De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications 著者: Yuri Moriura, Yosuke Nishio, Shintaro Ichimura, Haruka Noda, Yoshihiro Tanahashi, Hikaru Yamamoto, Yuka Nakazawa, Taichi Oso, Yoshiaki Sato, Toshiki Takenouchi, Shinji Saitoh, Yukako Muramatsu, Tomoo Ogi

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Pediatric sepsis cases diagnosed with group B streptococcal meningitis using next-generation sequencing: a report of two cases 著者: Kazuhiro Horiba, Michio Suzuki, Nobuyuki Tetsuka, Yoshihiko Kawano, Makoto Yamaguchi, Toshihiko Okumura, Takako Suzuki, Yuka Torii, Jun-ichi Kawada, Makoto Morita, Shinya Hara, Tomoo Ogi, Yoshinori Ito

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Collaborative action of Brca1 and CtIP in elimination of covalent modifications from double-strand breaks to facilitate subsequent break repair. 著者: Kyoko Nakamura, Toshiaki Kogame, Hiroyuki Oshiumi, Akira Shinohara, Yoshiki Sumitomo, Keli Agama, Yves Pommier, Kimiko M Tsutsui, Ken Tsutsui, Edgar Hartsuiker, Tomoo Ogi, Shunichi Takeda, Yoshihito Taniguchi

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Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies 著者: Takuya Takeichi, Yusuke Ohno, Kana Tanahashi, Yasutoshi Ito, Ken Shiraishi, Ryo Utsunomiya, Satoshi Yoshida, Kenta Ikeda, Hayato Nomura, Shin Morizane, Koji Sayama, Tomoo Ogi, Yoshinao Muro, Akio Kihara, Masashi Akiyama

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Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome 著者: Nicolas Le May, Jérémie Courraud, Imène Boujelbène, Imène Boujelbène, Cathy Obringer, Tomoo Ogi, Alan R. Lehmann, Fanny Laffargue, Daphné Lehalle, Seiji Mizuno, Shehla Mohammed, Clothilde Ormières, Marjolaine Willems, Vincent Laugel, Vincent Laugel, Nadège Calmels, Nadège Calmels

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Prenatal inflammation impairs early CD11c-positive microglia induction and delays myelination in neurodevelopmental disorders 著者: Kazuya Fuma, Yukako Iitani, Kenji Imai, Takafumi Ushida, Sho Tano, Kosuke Yoshida, Akira Yokoi, Rika Miki, Hiroyuki Kidokoro, Yoshiaki Sato, Yuichiro Hara, Tomoo Ogi, Kohei Nomaki, Makoto Tsuda, Okiru Komine, Koji Yamanaka, Hiroaki Kajiyama, Tomomi Kotani

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