Connexin 30 deficiency attenuates A2 astrocyte responses and induces severe neurodegeneration in a 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine hydrochloride Parkinson's disease animal model
Fujita, Atsushi, Yamaguchi, Hiroo, Yamasaki, Ryo, Cui, Yiwen, Matsuoka, Yuta, Yamada, Ken-Ichi, Kira, Jun-Ichi
Published in Journal of neuroinflammation (13.08.2018)
Published in Journal of neuroinflammation (13.08.2018)
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Journal Article
Drug resistance to nelarabine in leukemia cell lines might be caused by reduced expression of deoxycytidine kinase through epigenetic mechanisms
Yoshida, Keishi, Fujita, Atsushi, Narazaki, Hidehiko, Asano, Takeshi, Itoh, Yasuhiko
Published in Cancer chemotherapy and pharmacology (2022)
Published in Cancer chemotherapy and pharmacology (2022)
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Journal Article
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms
Seyama, Rie, Tsuchida, Naomi, Okada, Yasuyuki, Sakata, Sonoko, Hamada, Keisuke, Azuma, Yoshiteru, Hamanaka, Kohei, Fujita, Atsushi, Koshimizu, Eriko, Miyatake, Satoko, Mizuguchi, Takeshi, Makino, Shintaro, Itakura, Atsuo, Okada, Satoshi, Okamoto, Nobuhiko, Ogata, Kazuhiro, Uchiyama, Yuri, Matsumoto, Naomichi
Published in Journal of human genetics (01.03.2022)
Published in Journal of human genetics (01.03.2022)
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Journal Article
ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report
Moriyama, Kengo, Mizuno, Tomoko, Suzuki, Tomonori, Inaji, Motoki, Maehara, Taketoshi, Fujita, Atsushi, Kato, Mitsuhiro, Matsumoto, Naomichi
Published in Brain & development (Tokyo. 1979) (01.01.2023)
Published in Brain & development (Tokyo. 1979) (01.01.2023)
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Journal Article
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features
Kameyama, Shinichi, Mizuguchi, Takeshi, Fukuda, Hiromi, Moey, Lip Hen, Keng, Wee Teik, Okamoto, Nobuhiko, Tsuchida, Naomi, Uchiyama, Yuri, Koshimizu, Eriko, Hamanaka, Kohei, Fujita, Atsushi, Miyatake, Satoko, Matsumoto, Naomichi
Published in Journal of human genetics (01.03.2022)
Published in Journal of human genetics (01.03.2022)
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Journal Article
Homozygous splicing mutation in NUP133 causes Galloway–Mowat syndrome
Fujita, Atsushi, Tsukaguchi, Hiroyasu, Koshimizu, Eriko, Nakazato, Hitoshi, Itoh, Kyoko, Kuraoka, Shohei, Komohara, Yoshihiro, Shiina, Masaaki, Nakamura, Shohei, Kitajima, Mika, Tsurusaki, Yoshinori, Miyatake, Satoko, Ogata, Kazuhiro, Iijima, Kazumoto, Matsumoto, Naomichi, Miyake, Noriko
Published in Annals of neurology (01.12.2018)
Published in Annals of neurology (01.12.2018)
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Journal Article
Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report
Tsuburaya-Suzuki, Rie, Ohori, Sachiko, Hamanaka, Kohei, Fujita, Atsushi, Matsumoto, Naomichi, Kinoshita, Masako
Published in Frontiers in genetics (17.07.2024)
Published in Frontiers in genetics (17.07.2024)
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Journal Article
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing
Mizuguchi, Takeshi, Okamoto, Nobuhiko, Yanagihara, Keiko, Miyatake, Satoko, Uchiyama, Yuri, Tsuchida, Naomi, Hamanaka, Kohei, Fujita, Atsushi, Miyake, Noriko, Matsumoto, Naomichi
Published in Genomics (San Diego, Calif.) (01.01.2021)
Published in Genomics (San Diego, Calif.) (01.01.2021)
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Journal Article
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism
Seyama, Rie, Uchiyama, Yuri, Kaneshi, Yosuke, Hamanaka, Kohei, Fujita, Atsushi, Tsuchida, Naomi, Koshimizu, Eriko, Misawa, Kazuharu, Miyatake, Satoko, Mizuguchi, Takeshi, Makino, Shintaro, Itakura, Atsuo, Okamoto, Nobuhiko, Matsumoto, Naomichi
Published in Journal of human genetics (01.05.2023)
Published in Journal of human genetics (01.05.2023)
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Journal Article
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma
Green, Timothy E, Fujita, Atsushi, Ghaderi, Navid, Heinzen, Erin L, Matsumoto, Naomichi, Klein, Karl Martin, Berkovic, Samuel F, Hildebrand, Michael S
Published in Neurobiology of disease (01.09.2023)
Published in Neurobiology of disease (01.09.2023)
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Journal Article
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy
Hamanaka, Kohei, Imagawa, Eri, Koshimizu, Eriko, Miyatake, Satoko, Tohyama, Jun, Yamagata, Takanori, Miyauchi, Akihiko, Ekhilevitch, Nina, Nakamura, Fumio, Kawashima, Takeshi, Goshima, Yoshio, Mohamed, Ahmad Rithauddin, Ch'ng, Gaik-Siew, Fujita, Atsushi, Azuma, Yoshiteru, Yasuda, Ken, Imamura, Shintaro, Nakashima, Mitsuko, Saitsu, Hirotomo, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Matsumoto, Naomichi
Published in American journal of human genetics (02.04.2020)
Published in American journal of human genetics (02.04.2020)
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Journal Article
Whole exome sequencing of fetal structural anomalies detected by ultrasonography
Aoi, Hiromi, Mizuguchi, Takeshi, Suzuki, Toshifumi, Makino, Shintaro, Yamamoto, Yuka, Takeda, Jun, Maruyama, Yojiro, Seyama, Rie, Takeuchi, Shiori, Uchiyama, Yuri, Azuma, Yoshiteru, Hamanaka, Kohei, Fujita, Atsushi, Koshimizu, Eriko, Miyatake, Satoko, Mitsuhashi, Satomi, Takata, Atsushi, Miyake, Noriko, Takeda, Satoru, Itakura, Atsuo, Matsumoto, Naomichi
Published in Journal of human genetics (01.05.2021)
Published in Journal of human genetics (01.05.2021)
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Journal Article
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome
Miyatake, Satoko, Yoshida, Kunihiro, Koshimizu, Eriko, Doi, Hiroshi, Yamada, Mitsunori, Miyaji, Yosuke, Ueda, Naohisa, Tsuyuzaki, Jun, Kodaira, Minori, Onoue, Hiroyuki, Taguri, Masataka, Imamura, Shintaro, Fukuda, Hiromi, Hamanaka, Kohei, Fujita, Atsushi, Satoh, Mai, Miyama, Takabumi, Watanabe, Nobuko, Kurita, Yusuke, Okubo, Masaki, Tanaka, Kenichi, Kishida, Hitaru, Koyano, Shigeru, Takahashi, Tatsuya, Ono, Yoya, Higashida, Kazuhiro, Yoshikura, Nobuaki, Ogata, Katsuhisa, Kato, Rumiko, Tsuchida, Naomi, Uchiyama, Yuri, Miyake, Noriko, Shimohata, Takayoshi, Tanaka, Fumiaki, Mizuguchi, Takeshi, Matsumoto, Naomichi
Published in Brain (London, England : 1878) (29.04.2022)
Published in Brain (London, England : 1878) (29.04.2022)
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Journal Article
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
Niihori, Tetsuya, Nagai, Koki, Fujita, Atsushi, Ohashi, Hirofumi, Okamoto, Nobuhiko, Okada, Satoshi, Harada, Atsuko, Kihara, Hirotaka, Arbogast, Thomas, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Abe, Taiki, Inoue, Shin-ichi, Tsai, I-Chun, Matsumoto, Naomichi, Davis, Erica E., Katsanis, Nicholas, Aoki, Yoko
Published in American journal of human genetics (06.06.2019)
Published in American journal of human genetics (06.06.2019)
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Journal Article
Novel CLTC variants cause new brain and kidney phenotypes
Itai, Toshiyuki, Miyatake, Satoko, Tsuchida, Naomi, Saida, Ken, Narahara, Sho, Tsuyusaki, Yu, Castro, Matheus Augusto Araujo, Kim, Chong Ae, Okamoto, Nobuhiko, Uchiyama, Yuri, Koshimizu, Eriko, Hamanaka, Kohei, Fujita, Atsushi, Mizuguchi, Takeshi, Matsumoto, Naomichi
Published in Journal of human genetics (01.01.2022)
Published in Journal of human genetics (01.01.2022)
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Journal Article
Moesin-Mediated P-Glycoprotein Activation During Snail-Induced Epithelial-Mesenchymal Transition in Lung Cancer Cells
Kamioka, Hiroki, Tomono, Takumi, Fujita, Atsushi, Onozato, Ryoichi, Iijima, Misa, Tsuchida, Shigeru, Arai, Takahiro, Fujita, Yukiyoshi, Zhang, Xieyi, Yano, Kentaro, Ogihara, Takuo
Published in Journal of pharmaceutical sciences (01.07.2020)
Published in Journal of pharmaceutical sciences (01.07.2020)
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Journal Article
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Miyake, Noriko, Tsukaguchi, Hiroyasu, Koshimizu, Eriko, Shono, Akemi, Matsunaga, Satoko, Shiina, Masaaki, Mimura, Yasuhiro, Imamura, Shintaro, Hirose, Tomonori, Okudela, Koji, Nozu, Kandai, Akioka, Yuko, Hattori, Motoshi, Yoshikawa, Norishige, Kitamura, Akiko, Cheong, Hae Il, Kagami, Shoji, Yamashita, Michiaki, Fujita, Atsushi, Miyatake, Satoko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Ohashi, Kenichi, Imamoto, Naoko, Ryo, Akihide, Ogata, Kazuhiro, Iijima, Kazumoto, Matsumoto, Naomichi
Published in American journal of human genetics (01.10.2015)
Published in American journal of human genetics (01.10.2015)
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Journal Article
Effectiveness of cetuximab as preemptive postsurgical therapy for oral squamous cell carcinoma patients with major risk: a single‐center retrospective cohort study
Fukumoto, Chonji, Sawatani, Yuta, Shiraishi, Ryo, Zama, Manabu, Shimura, Michiko, Hasegawa, Tomonori, Komiyama, Yuske, Fujita, Atsushi, Wakui, Takahiro, Kawamata, Hitoshi
Published in Investigational new drugs (01.06.2021)
Published in Investigational new drugs (01.06.2021)
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Journal Article
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy
Saida, Ken, Tamaoki, Junya, Sasaki, Masayuki, Haniffa, Muzhirah, Koshimizu, Eriko, Sengoku, Toru, Maeda, Hiroki, Kikuchi, Masahiro, Yokoyama, Haruna, Sakamoto, Masamune, Iwama, Kazuhiro, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Mizuguchi, Takeshi, Ogata, Kazuhiro, Miyake, Noriko, Miyatake, Satoko, Kobayashi, Makoto, Matsumoto, Naomichi
Published in Clinical genetics (01.12.2021)
Published in Clinical genetics (01.12.2021)
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