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LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases
Abe, Taiki, Umeki, Ikumi, Kanno, Shin-ichiro, Inoue, Shin-ichi, Niihori, Tetsuya, Aoki, Yoko
Published in Cell death and differentiation (01.03.2020)
Published in Cell death and differentiation (01.03.2020)
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Journal Article
Human genetic variation database, a reference database of genetic variations in the Japanese population
Higasa, Koichiro, Miyake, Noriko, Yoshimura, Jun, Okamura, Kohji, Niihori, Tetsuya, Saitsu, Hirotomo, Doi, Koichiro, Shimizu, Masakazu, Nakabayashi, Kazuhiko, Aoki, Yoko, Tsurusaki, Yoshinori, Morishita, Shinichi, Kawaguchi, Takahisa, Migita, Osuke, Nakayama, Keiko, Nakashima, Mitsuko, Mitsui, Jun, Narahara, Maiko, Hayashi, Keiko, Funayama, Ryo, Yamaguchi, Daisuke, Ishiura, Hiroyuki, Ko, Wen-Ya, Hata, Kenichiro, Nagashima, Takeshi, Yamada, Ryo, Matsubara, Yoichi, Umezawa, Akihiro, Tsuji, Shoji, Matsumoto, Naomichi, Matsuda, Fumihiko
Published in Journal of human genetics (01.06.2016)
Published in Journal of human genetics (01.06.2016)
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Journal Article
Recent advances in RASopathies
Aoki, Yoko, Niihori, Tetsuya, Inoue, Shin-ichi, Matsubara, Yoichi
Published in Journal of human genetics (01.01.2016)
Published in Journal of human genetics (01.01.2016)
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Journal Article
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
Kamada, Fumiaki, Aoki, Yoko, Narisawa, Ayumi, Abe, Yu, Komatsuzaki, Shoko, Kikuchi, Atsuo, Kanno, Junko, Niihori, Tetsuya, Ono, Masao, Ishii, Naoto, Owada, Yuji, Fujimura, Miki, Mashimo, Yoichi, Suzuki, Yoichi, Hata, Akira, Tsuchiya, Shigeru, Tominaga, Teiji, Matsubara, Yoichi, Kure, Shigeo
Published in Journal of human genetics (01.01.2011)
Published in Journal of human genetics (01.01.2011)
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Journal Article
RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders
Aoki, Yoko, Niihori, Tetsuya, Narumi, Yoko, Kure, Shigeo, Matsubara, Yoichi
Published in Human mutation (01.08.2008)
Published in Human mutation (01.08.2008)
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Journal Article
A questionnaire-based survey on hyperphagia in individuals with Prader–Willi syndrome in Japan
Tachibana, Makiko, Oto, Yuji, Kashimada, Kenichi, Ishii, Tomohiro, Takahashi, Yutaka, Muroya, Koji, Aoki, Yoko, Kurosawa, Kenji, Ogata, Tsutomu, Kawai, Masanobu
Published in Endocrine Journal (2025)
Published in Endocrine Journal (2025)
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Journal Article
Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
Aoki, Yoko, Niihori, Tetsuya, Banjo, Toshihiro, Okamoto, Nobuhiko, Mizuno, Seiji, Kurosawa, Kenji, Ogata, Tsutomu, Takada, Fumio, Yano, Michihiro, Ando, Toru, Hoshika, Tadataka, Barnett, Christopher, Ohashi, Hirofumi, Kawame, Hiroshi, Hasegawa, Tomonobu, Okutani, Takahiro, Nagashima, Tatsuo, Hasegawa, Satoshi, Funayama, Ryo, Nagashima, Takeshi, Nakayama, Keiko, Inoue, Shin-ichi, Watanabe, Yusuke, Ogura, Toshihiko, Matsubara, Yoichi
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans
Gualtieri, Angelica, Kyprianou, Nikolina, Gregory, Louise C., Vignola, Maria Lillina, Nicholson, James G., Tan, Rachael, Inoue, Shin-ichi, Scagliotti, Valeria, Casado, Pedro, Blackburn, James, Abollo-Jimenez, Fernando, Marinelli, Eugenia, Besser, Rachael E. J., Högler, Wolfgang, Karen Temple, I., Davies, Justin H., Gagunashvili, Andrey, Robinson, Iain C.A.F., Camper, Sally A., Davis, Shannon W., Cutillas, Pedro R., Gevers, Evelien F., Aoki, Yoko, Dattani, Mehul T., Gaston-Massuet, Carles
Published in Nature communications (01.04.2021)
Published in Nature communications (01.04.2021)
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Journal Article
NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis
Fukushima, Hidefumi, Shimizu, Kouhei, Watahiki, Asami, Hoshikawa, Seira, Kosho, Tomoki, Oba, Daiju, Sakano, Seiji, Arakaki, Makiko, Yamada, Aya, Nagashima, Katsuyuki, Okabe, Koji, Fukumoto, Satoshi, Jimi, Eijiro, Bigas, Anna, Nakayama, Keiichi I., Nakayama, Keiko, Aoki, Yoko, Wei, Wenyi, Inuzuka, Hiroyuki
Published in Molecular cell (16.11.2017)
Published in Molecular cell (16.11.2017)
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Journal Article
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain
Izumi, Rumiko, Takahashi, Toshiaki, Suzuki, Naoki, Niihori, Tetsuya, Ono, Hiroya, Nakamura, Naoko, Katada, Shinichi, Kato, Masaaki, Warita, Hitoshi, Tateyama, Maki, Aoki, Yoko, Aoki, Masashi
Published in Human mutation (01.09.2020)
Published in Human mutation (01.09.2020)
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Journal Article
Genetic Reassortment in a Child Coinfected with Two Influenza B Viruses, B/Yamagata Lineage and B/Victoria-Lineage Strains
Matsuzaki, Yoko, Sugawara, Kanetsu, Kidoguchi, Yuko, Kadowaki, Yoko, Shimotai, Yoshitaka, Katsushima, Yuriko, Katsushima, Fumio, Tanaka, Shizuka, Matoba, Yohei, Komabayashi, Kenichi, Aoki, Yoko, Mizuta, Katsumi
Published in Viruses (19.06.2024)
Published in Viruses (19.06.2024)
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Journal Article
Isolation of Human Coronaviruses OC43, HKU1, NL63, and 229E in Yamagata, Japan, Using Primary Human Airway Epithelium Cells Cultured by Employing an Air-Liquid Interface Culture
Aoki, Yoko, Ikeda, Yoko, Tanaka, Waka, Itagaki, Tsutomu, Mizuta, Katsumi, Seto, Junji, Matsuzaki, Yoko, Komabayashi, Kenichi, Ikeda, Tatsuya, Matoba, Yohei, Shirato, Kazuya
Published in Japanese Journal of Infectious Diseases (31.07.2021)
Published in Japanese Journal of Infectious Diseases (31.07.2021)
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Journal Article
Phylogenetic and antigenic analyses of coxsackievirus A6 isolates in Yamagata, Japan between 2001 and 2017
Mizuta, Katsumi, Tanaka, Shizuka, Komabayashi, Kenichi, Aoki, Yoko, Itagaki, Tsutomu, Katsushima, Fumio, Katsushima, Yuriko, Yoshida, Hiroshi, Ito, Sueshi, Matsuzaki, Yoko, Ikeda, Tatsuya
Published in Vaccine (14.02.2019)
Published in Vaccine (14.02.2019)
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Journal Article
Epidemiology of Coronavirus Disease 2019 in Yamagata Prefecture, Japan, January–May 2020: the Importance of Retrospective Contact Tracing
Ashino, Yoshihiro, Sampei, Mika, Chiba, Masami, Ikeda, Yoko, Komabayashi, Kenichi, Seto, Junji, Takahashi, Tatsuya, Ogawa, Naomi, Fujii, Shunji, Otani, Yoshiko, Ishikawa, Hitoshi, Araki, Kyoko, Mizuta, Katsumi, Uchiumi, Yumiko, Suzuki, Emiko, Kato, Takeo, Ikeda, Tatsuya, Aoki, Yoko, Abe, Hideaki, Yamada, Keiko, Ahiko, Tadayuki
Published in Japanese Journal of Infectious Diseases (22.11.2021)
Published in Japanese Journal of Infectious Diseases (22.11.2021)
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Journal Article