Search Results - "Mizutani, Shuki"

DNA damage response and disorders with hematology, oncology and immunology by Mizutani, Shuki

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The DNA damage response pathway in normal hematopoiesis and malignancies by Delia, Domenico, Mizutani, Shuki

“…In mammalian cells, the DNA damage response (DDR) prevents the replication and propagation of DNA errors to the next generation, thus maintaining genomic…”
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Placenta mediates the effect of maternal hypertension polygenic score on offspring birth weight: a study of birth cohort with fetal growth velocity data by Sato, Noriko, Fudono, Ayako, Imai, Chihiro, Takimoto, Hidemi, Tarui, Iori, Aoyama, Tomoko, Yago, Satoshi, Okamitsu, Motoko, Mizutani, Shuki, Miyasaka, Naoyuki

“…Abstract Background Low birth weight (LBW) and fetal growth restriction are associated with the development of cardio-metabolic diseases later in life. A…”
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PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome by Ohkawa, Teppei, Nishimura, Akira, Kosaki, Kenjiro, Aoki-Nogami, Yuki, Tomizawa, Daisuke, Kashimada, Kenichi, Morio, Tomohiro, Kato, Motohiro, Mizutani, Shuki, Takagi, Masatoshi

“…PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma (ARMS) developed in a patient presenting with intellectual disability and dysmorphic facial features…”
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Guest editorial: recent advances in the genetic basis of childhood hemato-oncological diseases by Mizutani, Shuki

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EWSR1/ELF5 induces acute myeloid leukemia by inhibiting p53/p21 pathway by Endo, Akifumi, Tomizawa, Daisuke, Aoki, Yuki, Morio, Tomohiro, Mizutani, Shuki, Takagi, Masatoshi

“…The Ewing sarcoma breakpoint region 1 (EWSR1) gene is known to fuse with various partner genes to promote the development of the Ewing sarcoma family of tumors…”
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XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility by Mizutani, Shuki, Takagi, Masatoshi

“…The XCIND syndrome is named after distinct hypersensitivity to ionizing ( X -ray) irradiation, cancer susceptibility, i mmunodeficiency, n eurological…”
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Incidence and survival rates of hematological malignancies in Japanese children and adolescents (2006–2010): based on registry data from the Japanese Society of Pediatric Hematology by Horibe, Keizo, Saito, Akiko M., Takimoto, Tetsuya, Tsuchida, Masahiro, Manabe, Atsushi, Shima, Midori, Ohara, Akira, Mizutani, Shuki

“…Neither accurate incidence nor survival data for pediatric patients with hematological malignancies (HM) have been available in Japan to date. Incidence of…”
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Poly (ADP-ribose) polymerase inhibitors selectively induce cytotoxicity in TCF3-HLF–positive leukemic cells by Piao, Jinhua, Takai, Shiori, Kamiya, Takahiro, Inukai, Takeshi, Sugita, Kanji, Ohyashiki, Kazuma, Delia, Domenico, Masutani, Mitsuko, Mizutani, Shuki, Takagi, Masatoshi

“…Abstract Poly (ADP-ribose) polymerase (PARP) is an indispensable component of the DNA repair machinery. PARP inhibitors are used as cutting-edge treatments for…”
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The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils by Honda, Fumiko, Kano, Hirotsugu, Kanegane, Hirokazu, Nonoyama, Shigeaki, Kim, Eun-Sung, Lee, Sang-Kyou, Takagi, Masatoshi, Mizutani, Shuki, Morio, Tomohiro

“…Deficiency in the kinase Btk results in X-linked agammaglobulinemia in humans. Morio and colleagues show that Btk confines the adaptor Mal in the cytoplasm in…”
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Glucose-independent persistence of PAI-1 gene expression and H3K4 tri-methylation in type 1 diabetic mouse endothelium: Implication in metabolic memory by Takizawa, Fumihiko, Mizutani, Shuki, Ogawa, Yoshihiro, Sawada, Naoki

“…► Type 1 diabetes upregulated a set of genes including Serpine1 in endothelium. ► Serpine1 upregulation by diabetes persisted after normoglycemic cell culture…”
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Predictive factors for the development of leukemia in patients with transient abnormal myelopoiesis and Down syndrome by Yamato, Genki, Deguchi, Takao, Terui, Kiminori, Toki, Tsutomu, Watanabe, Tomoyuki, Imaizumi, Takahiro, Hama, Asahito, Iwamoto, Shotaro, Hasegawa, Daisuke, Ueda, Takahiro, Yokosuka, Tomoko, Tanaka, Shiro, Yanagisawa, Ryu, Koh, Katsuyoshi, Saito, Akiko M., Horibe, Keizo, Hayashi, Yasuhide, Adachi, Souichi, Mizutani, Shuki, Taga, Takashi, Ito, Etsuro, Watanabe, Kenichiro, Muramatsu, Hideki

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Human Tyrosine Kinase 2 Deficiency Reveals Its Requisite Roles in Multiple Cytokine Signals Involved in Innate and Acquired Immunity by Minegishi, Yoshiyuki, Saito, Masako, Morio, Tomohiro, Watanabe, Ken, Agematsu, Kazunaga, Tsuchiya, Shigeru, Takada, Hidetoshi, Hara, Toshiro, Kawamura, Nobuaki, Ariga, Tadashi, Kaneko, Hideo, Kondo, Naomi, Tsuge, Ikuya, Yachie, Akihiro, Sakiyama, Yukio, Iwata, Tsutomu, Bessho, Fumio, Ohishi, Tsutomu, Joh, Kosuke, Imai, Kohsuke, Kogawa, Kazuhiro, Shinohara, Miwa, Fujieda, Mikiya, Wakiguchi, Hiroshi, Pasic, Srdjan, Abinun, Mario, Ochs, Hans D., Renner, Eleonore D., Jansson, Annette, Belohradsky, Bernd H., Metin, Ayse, Shimizu, Norio, Mizutani, Shuki, Miyawaki, Toshio, Nonoyama, Shigeaki, Karasuyama, Hajime

“…Tyrosine kinase 2 (Tyk2) is a nonreceptor tyrosine kinase that belongs to the Janus kinase (Jak) family. Here we identified a homozygous Tyk2 mutation in a…”
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Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report by Mizuno, Tomoko, Kashimada, Ayako, Nomura, Toshihiro, Moriyama, Kengo, Yokoyama, Haruna, Hasegawa, Setsuko, Takagi, Masatoshi, Mizutani, Shuki

“…Spinocerebellar ataxia type 5 (SCA5), a dominant spinocerebellar ataxia is caused by spectrin beta nonerythrocytic 2 gene (SPTBN2) mutation. It typically…”
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Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue by Hamano, Kimiko, Hayashi, Masaharu, Shioda, Kei, Fukatsu, Ryo, Mizutani, Shuki

“…Mucopolysaccharidoses (MPS) are inherited disorders caused by the deficiency of lysosomal enzymes. Sanfilippo syndrome (MPS III) and Hunter syndrome (MPS II)…”
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Application of the Nutrient-Rich Food Index 9.3 and the Dietary Inflammatory Index for Assessing Maternal Dietary Quality in Japan: A Single-Center Birth Cohort Study by Imai, Chihiro, Takimoto, Hidemi, Fudono, Ayako, Tarui, Iori, Aoyama, Tomoko, Yago, Satoshi, Okamitsu, Motoko, Sasaki, Satoshi, Mizutani, Shuki, Miyasaka, Naoyuki, Sato, Noriko

“…The maternal diet can potentially influence the life-course health of the child. A poor-quality maternal diet creates nutrient deficiencies and affects…”
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Dysregulation of the DNA Damage Response and KMT2A Rearrangement in Fetal Liver Hematopoietic Cells by Nanya, Mai, Sato, Masaki, Tanimoto, Kousuke, Tozuka, Minoru, Mizutani, Shuki, Takagi, Masatoshi

“…Etoposide, a topoisomerase 2 (TOP2) inhibitor, is associated with the development of KMT2A (MLL)-rearranged infant leukemia. An epidemiological study suggested…”
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Identification of CD34’ and CD34− leukemia-initiating cells in MLL-rearranged human acute lymphoblastic leukemia by Aoki, Yuki, Watanabe, Takashi, Saito, Yoriko, Kuroki, Yoko, Hijikata, Atsushi, Takagi, Masatoshi, Tomizawa, Daisuke, Eguchi, Mariko, Eguchi-Ishimae, Minenori, Kaneko, Akiko, Ono, Rintaro, Sato, Kaori, Suzuki, Nahoko, Fujiki, Saera, Koh, Katsuyoshi, Ishii, Eiichi, Shultz, Leonard D., Ohara, Osamu, Mizutani, Shuki, Ishikawa, Fumihiko

“…Translocation of the mixed-lineage leukemia (MLL) gene with AF4, AF9, or ENL results in acute leukemia with both lymphoid and myeloid involvement. We…”
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Megalin contributes to the early injury of proximal tubule cells during nonselective proteinuria by Motoyoshi, Yaeko, Matsusaka, Taiji, Saito, Akihiko, Pastan, Ira, Willnow, Thomas E., Mizutani, Shuki, Ichikawa, Iekuni

“…Megalin, a member of the LDL receptor family, is expressed on the apical membrane of proximal tubules and serves as an endocytic scavenger of filtered proteins…”
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Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases by Nishimura, Akira, Aoki, Yuki, Ishiwata, Yasuyoshi, Ichimura, Takuya, Ueyama, Junichi, Kawahara, Yuta, Tomoda, Takahiro, Inoue, Maiko, Matsumoto, Kazuaki, Inoue, Kento, Hiroki, Haruka, Ono, Shintaro, Yamashita, Motoi, Okano, Tsubasa, Tanaka-Kubota, Mari, Ashiarai, Miho, Miyamoto, Satoshi, Miyawaki, Reiji, Yamagishi, Chika, Tezuka, Mari, Okawa, Teppei, Hoshino, Akihiro, Endo, Akifumi, Yasuhara, Masato, Kamiya, Takahiro, Mitsuiki, Noriko, Ono, Toshiaki, Isoda, Takeshi, Yanagimachi, Masakatsu, Tomizawa, Daisuke, Nagasawa, Masayuki, Mizutani, Shuki, Kajiwara, Michiko, Takagi, Masatoshi, Kanegane, Hirokazu, Imai, Kohsuke, Morio, Tomohiro

“…Purpose The purpose of our study was to compare the safety and efficacy of hematopoietic cell transplantation (HCT) using fludarabine (Flu)-based reduced…”
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