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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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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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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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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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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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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Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis
Nishiyama, Ayumi, Niihori, Tetsuya, Warita, Hitoshi, Izumi, Rumiko, Akiyama, Tetsuya, Kato, Masaaki, Suzuki, Naoki, Aoki, Yoko, Aoki, Masashi
Published in Neurobiology of aging (01.05.2017)
Published in Neurobiology of aging (01.05.2017)
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Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis
Ozeki, Michio, Aoki, Yoko, Nozawa, Akifumi, Yasue, Shiho, Endo, Saori, Hori, Yumiko, Matsuoka, Kentaro, Niihori, Tetsuya, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Fukao, Toshiyuki
Published in Orphanet journal of rare diseases (11.09.2019)
Published in Orphanet journal of rare diseases (11.09.2019)
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LZTR1 deficiency exerts high metastatic potential by enhancing sensitivity to EMT induction and controlling KLHL12-mediated collagen secretion
Abe, Taiki, Kanno, Shin-ichiro, Niihori, Tetsuya, Terao, Miho, Takada, Shuji, Aoki, Yoko
Published in Cell death & disease (25.08.2023)
Published in Cell death & disease (25.08.2023)
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A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy
Inoue-Shibui, Aya, Niihori, Tetsuya, Kobayashi, Michio, Suzuki, Naoki, Izumi, Rumiko, Warita, Hitoshi, Hara, Kenju, Shirota, Matsuyuki, Funayama, Ryo, Nakayama, Keiko, Nishino, Ichizo, Aoki, Masashi, Aoki, Yoko
Published in Journal of human genetics (01.10.2021)
Published in Journal of human genetics (01.10.2021)
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Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Wada, Yoichi, Kikuchi, Atsuo, Kaga, Akimune, Shimizu, Naoki, Ito, Junya, Onuma, Ryo, Fujishima, Fumiyoshi, Totsune, Eriko, Sato, Ryo, Niihori, Tetsuya, Shirota, Matsuyuki, Funayama, Ryo, Sato, Kota, Nakazawa, Toru, Nakayama, Keiko, Aoki, Yoko, Aiba, Setsuya, Nakagawa, Kiyotaka, Kure, Shigeo
Published in PLoS genetics (26.02.2020)
Published in PLoS genetics (26.02.2020)
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A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms
Mizukami, Miyako, Ishikawa, Aki, Miyazaki, Sachiko, Tsuzuki, Akiko, Saito, Sakae, Niihori, Tetsuya, Sakurai, Akihiro
Published in Brain & development (Tokyo. 1979) (01.04.2021)
Published in Brain & development (Tokyo. 1979) (01.04.2021)
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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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A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor
Aihara, Yu, Shirota, Matsuyuki, Kikuchi, Atsuo, Katata, Yu, Abe, Yu, Niihori, Tetsuya, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kure, Shigeo
Published in Journal of human genetics (01.01.2023)
Published in Journal of human genetics (01.01.2023)
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Germline mutations in HRAS proto-oncogene cause Costello syndrome
Aoki, Yoko, Niihori, Tetsuya, Kawame, Hiroshi, Kurosawa, Kenji, Ohashi, Hirofumi, Tanaka, Yukichi, Filocamo, Mirella, Kato, Kumi, Suzuki, Yoichi, Kure, Shigeo, Matsubara, Yoichi
Published in Nature genetics (01.10.2005)
Published in Nature genetics (01.10.2005)
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Biallelic GALM pathogenic variants cause a novel type of galactosemia
Wada, Yoichi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Takezawa, Yusuke, Iwasawa, Shinya, Niihori, Tetsuya, Nyuzuki, Hiromi, Nakajima, Yoko, Ogawa, Erika, Ishige, Mika, Hirai, Hiroki, Sasai, Hideo, Fujiki, Ryoji, Shirota, Matsuyuki, Funayama, Ryo, Yamamoto, Masayuki, Ito, Tetsuya, Ohara, Osamu, Nakayama, Keiko, Aoki, Yoko, Koshiba, Seizo, Fukao, Toshiyuki, Kure, Shigeo
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
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Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome
Shoji, Yasuko, Ida, Shinobu, Niihori, Tetsuya, Aoki, Yoko, Okamoto, Nobuhiko, Etani, Yuri, Kawai, Masanobu
Published in Endocrine Journal (01.01.2019)
Published in Endocrine Journal (01.01.2019)
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Recurrent de novo MAPK8IP3 variants cause neurological phenotypes
Iwasawa, Shinya, Yanagi, Kumiko, Kikuchi, Atsuo, Kobayashi, Yasuko, Haginoya, Kazuhiro, Matsumoto, Hiroshi, Kurosawa, Kenji, Ochiai, Masayuki, Sakai, Yasunari, Fujita, Atsushi, Miyake, Noriko, Niihori, Tetsuya, Shirota, Matsuyuki, Funayama, Ryo, Nonoyama, Shigeaki, Ohga, Shouichi, Kawame, Hiroshi, Nakayama, Keiko, Aoki, Yoko, Matsumoto, Naomichi, Kaname, Tadashi, Matsubara, Yoichi, Shoji, Wataru, Kure, Shigeo
Published in Annals of neurology (01.06.2019)
Published in Annals of neurology (01.06.2019)
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New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome
Inoue, Shin-Ichi, Moriya, Mitsuji, Watanabe, Yusuke, Miyagawa-Tomita, Sachiko, Niihori, Tetsuya, Oba, Daiju, Ono, Masao, Kure, Shigeo, Ogura, Toshihiko, Matsubara, Yoichi, Aoki, Yoko
Published in Human molecular genetics (15.12.2014)
Published in Human molecular genetics (15.12.2014)
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