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J-GLOBAL ID：201802229146117040   Reference number：18A1684458

De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome

遺伝性骨髄不全症候群における生殖系列TP53を活性化するde novo変異【JST・京大機械翻訳】

Author (50)： Toki Tsutomu (Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan) ,  Yoshida Kenichi (Cancer Genomics Project, Graduate School of Medicine, the University of Tokyo, Tokyo 113-00333, Japan) ,  Yoshida Kenichi (Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan) ,  Wang RuNan (Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan) ,  Wang RuNan (Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning, China) ,  Nakamura Sou (Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan) ,  Maekawa Takanobu (Department of General Pediatric and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo 157-8535, Japan) ,  Goi Kumiko (Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan) ,  Katoh Megumi C. (Department of Anatomy and Embryology, Faculty of Medicine, University of Tsukuba, Tsukuba 305-8575, Japan) ,  Katoh Megumi C. (Laboratory Animal Resource Center, Faculty of Medicine, University of Tsukuba 305-8575, Japan) ,  Mizuno Seiya (Laboratory Animal Resource Center, Faculty of Medicine, University of Tsukuba 305-8575, Japan) ,  Sugiyama Fumihiro (Laboratory Animal Resource Center, Faculty of Medicine, University of Tsukuba 305-8575, Japan) ,  Kanezaki Rika (Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan) ,  Uechi Tamayo (Frontier Science Research Center, University of Miyazaki, Miyazaki 889-1692, Japan) ,  Nakajima Yukari (Frontier Science Research Center, University of Miyazaki, Miyazaki 889-1692, Japan) ,  Sato Yusuke (Cancer Genomics Project, Graduate School of Medicine, the University of Tokyo, Tokyo 113-00333, Japan) ,  Sato Yusuke (Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan) ,  Okuno Yusuke (Cancer Genomics Project, Graduate School of Medicine, the University of Tokyo, Tokyo 113-00333, Japan) ,  Okuno Yusuke (Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan) ,  Sato-Otsubo Aiko (Cancer Genomics Project, Graduate School of Medicine, the University of Tokyo, Tokyo 113-00333, Japan) ,  Sato-Otsubo Aiko (Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan) ,  Shiozawa Yusuke (Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan) ,  Kataoka Keisuke (Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan) ,  Shiraishi Yuichi (Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, the University of Tokyo, Tokyo 108-8639, Japan) ,  Sanada Masashi (Cancer Genomics Project, Graduate School of Medicine, the University of Tokyo, Tokyo 113-00333, Japan) ,  Sanada Masashi (Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan) ,  Chiba Kenichi (Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, the University of Tokyo, Tokyo 108-8639, Japan) ,  Tanaka Hiroko (Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, the University of Tokyo, Tokyo 108-8639, Japan) ,  Terui Kiminori (Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan) ,  Sato Tomohiko (Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan) ,  Kamio Takuya (Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan) ,  Sakaguchi Hirotoshi (Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan) ,  Ohga Shouichi (Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan) ,  Kuramitsu Madoka (Department of Safety Research on Blood and Biological Products, National Institute of Infectious Diseases, Tokyo 208-0011, Japan) ,  Hamaguchi Isao (Department of Safety Research on Blood and Biological Products, National Institute of Infectious Diseases, Tokyo 208-0011, Japan) ,  Ohara Akira (Department of Pediatrics, Omori Medical Center, Toho University, Tokyo 143-8540, Japan) ,  Kanno Hitoshi (Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University, Tokyo 162-8666, Japan) ,  Miyano Satoru (Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, the University of Tokyo, Tokyo 108-8639, Japan) ,  Miyano Satoru (Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, the University of Tokyo, Tokyo 108-8639, Japan) ,  Kojima Seiji (Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan) ,  Ishiguro Akira (Division of Hematology, National Center for Child Health and Development, Tokyo 157-8535, Japan) ,  Sugita Kanji (Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan) ,  Kenmochi Naoya (Frontier Science Research Center, University of Miyazaki, Miyazaki 889-1692, Japan) ,  Takahashi Satoru (Department of Anatomy and Embryology, Faculty of Medicine, University of Tsukuba, Tsukuba 305-8575, Japan) ,  Takahashi Satoru (Laboratory Animal Resource Center, Faculty of Medicine, University of Tsukuba 305-8575, Japan) ,  Eto Koji (Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan) ,  Ogawa Seishi (Cancer Genomics Project, Graduate School of Medicine, the University of Tokyo, Tokyo 113-00333, Japan) ,  Ogawa Seishi (Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan) ,  Ogawa Seishi (Department of Medicine, Karolinska Institute, Center for Hematology and Regenerative Medicine, SE-171 76 Stockholm, Sweden) ,  Ito Etsuro (Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan)
Material： American Journal of Human Genetics  (AJHG)
Volume： 103  Issue： 3  Page： 440-447  Publication year： 2018 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Article type： 短報  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Inherited bone-marrow-failure ...

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Thesaurus term： Mutation ,  skin disease ,  p53 protein ,  Danio rerio ,  human ,  *Heredity ,  tumor suppressor gene ,  pathogenesis ,  Anemia ,  pluripotent stem cell ,  *TP53 ,  *germline ,  *Genetic Variation
Semi thesaurus term： *variation(biology) ,  悪性腫瘍 ,  *骨髄機能不全 , 【Automatic Indexing@JST】

Author keywords (10)： TP53 ,  p53 ,  the C-terminal domain ,  inherited bone marrow failure syndrome ,  Diamond-Blackfan anemia ,  dyskeratosis congenita ,  zebrafish ,  human-induced pluripotent stem cell ,  iPSC ,  gene editing

JST classification (3)： Blood cell tumors(=neoplasms)  (GK04000M) ,  Diagnosis of tumors(=neoplasms)  (GE03020J) ,  Hematologic diseases  (GK03000F)

Terms in the title (5)： 遺伝性骨髄不全症候群 ,  生殖系列 ,  TP53 ,  活性化 ,  変異