Works matching AU Sakai, Norio

Results: 143
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    Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

    Published in:
    Human Mutation, 2008, v. 29, n. 2, p. 331, doi. 10.1002/humu.9520
    By:
    • Shimotori, Masaaki;
    • Maruyama, Hiroki;
    • Nakamura, Gen;
    • Suyama, Takayuki;
    • Sakamoto, Fumiko;
    • Itoh, Masaaki;
    • Miyabayashi, Shigeaki;
    • Ohnishi, Takahiro;
    • Sakai, Norio;
    • Wataya-Kaneda, Mari;
    • Kubota, Mitsuru;
    • Takahashi, Toshiyuki;
    • Mori, Tatsuhiko;
    • Tamura, Katsuhiko;
    • Kageyama, Shinji;
    • Shio, Nobuo;
    • Maeba, Teruhiko;
    • Yahagi, Hirokazu;
    • Tanaka, Motoko;
    • Oka, Masayo
    Publication type:
    Article
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    Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030045
    By:
    • Tomokazu Kimizu;
    • Shinobu Ida;
    • Kentaro Okamoto;
    • Hiroyuki Awano;
    • Niba, Emma Tabe Eko;
    • Wijaya, Yogik Onky Silvana;
    • Shin Okazaki;
    • Hideki Shimomura;
    • Tomoko Lee;
    • Koji Tominaga;
    • Shin Nabatame;
    • Toshio Saito;
    • Takashi Hamazaki;
    • Norio Sakai;
    • Kayoko Saito;
    • Haruo Shintaku;
    • Kandai Nozu;
    • Yasuhiro Takeshima;
    • Kazumoto Iijima;
    • Hisahide Nishio
    Publication type:
    Article
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    Characteristic craniofacial defects associated with a novel USP9X truncation mutation.

    Published in:
    Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00277-w
    By:
    • Nagata, Namiki;
    • Kurosaka, Hiroshi;
    • Higashi, Kotaro;
    • Yamaguchi, Masaya;
    • Yamamoto, Sayuri;
    • Inubushi, Toshihiro;
    • Nagata, Miho;
    • Ishihara, Yasuki;
    • Yonei, Ayumi;
    • Miyashita, Yohei;
    • Asano, Yoshihiro;
    • Sakai, Norio;
    • Sakata, Yasushi;
    • Kawabata, Shigetada;
    • Yamashiro, Takashi
    Publication type:
    Article
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    A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features.

    Published in:
    Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0047-9
    By:
    • Murata, Yuka;
    • Kurosaka, Hiroshi;
    • Ohata, Yasuhisa;
    • Aikawa, Tomonao;
    • Takahata, Sosuke;
    • Fujii, Katsunori;
    • Miyashita, Toshiyuki;
    • Morita, Chisato;
    • Inubushi, Toshihiro;
    • Kubota, Takuo;
    • Sakai, Norio;
    • Ozono, Keiichi;
    • Kogo, Mikihiko;
    • Yamashiro, Takashi
    Publication type:
    Article
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    Hematopoietic stem cell transplantation for inborn errors of metabolism: A report from the Research Committee on Transplantation for Inborn Errors of Metabolism of the Japanese Ministry of Health, Labour and Welfare and the Working Group of the Japan Society for Hematopoietic Cell Transplantation

    Published in:
    Pediatric Transplantation, 2016, v. 20, n. 2, p. 203, doi. 10.1111/petr.12672
    By:
    • Kato, Shunichi;
    • Yabe, Hiromasa;
    • Takakura, Hiromitsu;
    • Mugishima, Hideo;
    • Ishige, Mika;
    • Tanaka, Akemi;
    • Kato, Koji;
    • Yoshida, Nao;
    • Adachi, Souichi;
    • Sakai, Norio;
    • Hashii, Yoshiko;
    • Ohashi, Toya;
    • Sasahara, Yoji;
    • Suzuki, Yasuyuki;
    • Tabuchi, Ken
    Publication type:
    Article
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    An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene.

    Published in:
    PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042180
    By:
    • Miura, Kohji;
    • Namba, Noriyuki;
    • Fujiwara, Makoto;
    • Ohata, Yasuhisa;
    • Ishida, Hidekazu;
    • Kitaoka, Taichi;
    • Kubota, Takuo;
    • Hirai, Haruhiko;
    • Higuchi, Chikahisa;
    • Tsumaki, Noriyuki;
    • Yoshikawa, Hideki;
    • Sakai, Norio;
    • Michigami, Toshimi;
    • Ozono, Keiichi;
    • Hodgson-Zingman, Denice
    Publication type:
    Article
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    Discovery and characterization of GPR6 inverse agonists (1144.11).

    Published in:
    FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.1144.11
    By:
    • Wood, Michael;
    • Tanaka, Shigeru;
    • Ryberg, Erik;
    • Norris, Tyrrell;
    • Hastings, Richard;
    • Bostwick, James;
    • Greasley, Peter;
    • Raddatz, Rita;
    • Sakai, Norio;
    • Cross, Alan
    Publication type:
    Article
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    Enhanced processivity of Dnmt1 by monoubiquitinated histone H3.

    Published in:
    Genes to Cells, 2020, v. 25, n. 1, p. 22, doi. 10.1111/gtc.12732
    By:
    • Mishima, Yuichi;
    • Brueckner, Laura;
    • Takahashi, Saori;
    • Kawakami, Toru;
    • Otani, Junji;
    • Shinohara, Akira;
    • Takeshita, Kohei;
    • Garvilles, Ronald Garingalao;
    • Watanabe, Mikio;
    • Sakai, Norio;
    • Takeshima, Hideyuki;
    • Nachtegael, Charlotte;
    • Nishiyama, Atsuya;
    • Nakanishi, Makoto;
    • Arita, Kyohei;
    • Nakashima, Kinichi;
    • Hojo, Hironobu;
    • Suetake, Isao
    Publication type:
    Article
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    SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.

    Published in:
    Journal of Human Genetics, 2011, v. 56, n. 12, p. 846, doi. 10.1038/jhg.2011.115
    By:
    • Hashimoto, Natsuko;
    • Kagitani-Shimono, Kuriko;
    • Sakai, Norio;
    • Otomo, Takanobu;
    • Tominaga, Koji;
    • Nabatame, Shin;
    • Mogami, Yukiko;
    • Takahashi, Yukitoshi;
    • Imai, Katsumi;
    • Yanagihara, Keiko;
    • Okinaga, Takeshi;
    • Nagai, Toshisaburo;
    • Taniike, Masako;
    • Ozono, Keiichi
    Publication type:
    Article
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