T
Takanobu Otomo
Researcher at Kawasaki Medical School
Publications - 35
Citations - 6058
Takanobu Otomo is an academic researcher from Kawasaki Medical School. The author has contributed to research in topics: Mucolipidosis & Autophagy. The author has an hindex of 14, co-authored 30 publications receiving 5463 citations. Previous affiliations of Takanobu Otomo include Osaka University.
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Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure.
Sahoko Ono,Junko Matsuda,Etsuko Watanabe,Hiroto Akaike,Hideto Teranishi,Ippei Miyata,Takanobu Otomo,Yoshito Sadahira,Tatsuki Mizuochi,Hironori Kusano,Masayoshi Kage,Hiroo Ueno,Kenichi Yoshida,Yuichi Shiraishi,Kenichi Chiba,Hiroko Tanaka,Satoru Miyano,Seishi Ogawa,Yasuhide Hayashi,Hirokazu Kanegane,Kazunobu Ouchi +20 more
TL;DR: Novel mutations in a gene called NBAS have been identified in a 3-year-old Japanese boy with recurrent acute liver failure and laboratory experiments indicated that these mutations impaired the ability of the protein encoded by NBAS to function correctly.
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14-3-3ε Gene variants in a Japanese patient with left ventricular noncompaction and hypoplasia of the corpus callosum
Bo Chang,Carlos Gorbea,George Lezin,Ling Li,Lishen Shan,Lishen Shan,Norio Sakai,Shigetoyo Kogaki,Takanobu Otomo,Takeshi Okinaga,Akiko Hamaoka,Xianyi Yu,Yukiko Hata,Naoki Nishida,H. Joseph Yost,Neil E. Bowles,Luca Brunelli,Fukiko Ichida +17 more
TL;DR: Data suggest that the -458G>T YWHAE variant contributes to the abnormal myocardial morphogenesis characteristic of LVNC as well as abnormal brain development, and implicate YW HAE as a novel candidate gene in pediatric cardiomyopathies.
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SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome
Natsuko Hashimoto,Kuriko Kagitani-Shimono,Norio Sakai,Takanobu Otomo,Koji Tominaga,Shin Nabatame,Yukiko Mogami,Yukitoshi Takahashi,Katsumi Imai,Keiko Yanagihara,Takeshi Okinaga,Toshisaburo Nagai,Masako Taniike,Keiichi Ozono +13 more
TL;DR: Analysis of the SLC2A1 gene in 12 Japanese Glut1-DS patients found a complex abnormality with deletion and duplication was identified in one patient, believed to be the first case of such recombination of the H2O1/H2O2 gene.
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EBV replicon vector system enhances transgene expression in vivo: applications to cancer gene therapy.
TL;DR: The present study examines the effect of the EBV replicon vector system and its application to a suicide gene therapy for melanoma in mice.
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Genistein reduces heparan sulfate accumulation in human mucolipidosis II skin fibroblasts.
TL;DR: The effect of genistein was examined in human mucolipidosis II skin fibroblasts in vitro and it was found that the amount of heparan sulfate in cultured cells dose dependents and also inhibited cell growth dose dependently were reduced.