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Ohtsuka Yasufumi  大塚 泰史

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OHTSUKA Yasufumi  大塚 泰史

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Researcher Number 50448479
Affiliation (based on the past Project Information) *help 2019 – 2020: 佐賀大学, 医学部, 講師
2018: 佐賀大学, 医学部, 助教
2011 – 2015: 佐賀大学, 医学部, 助教
Review Section/Research Field
Principal Investigator
Basic Section 56030:Urology-related / Embryonic/Neonatal medicine / Pediatrics
Keywords
Principal Investigator
次世代シークエンサー / エクソーム解析 / 父性ダイソミー / ゲノムアレイ / 遺伝子変異 / エクソーム / Genotyping / Genotyping解析 / CAKUT / 先天性腎尿路異常 … More / パラメトリック連鎖解析 / ジェノタイピング / CAKUT先天性腎尿路異常 / Beckwith-Wiedemann 症候群 / インプリント疾患 / 全ゲノム父性ダイソミー / エピジェネティック / メチル化解析 / ゲノムワイド父性ダイソミー / 片親性ダイソミー / Beckwith-Wiedemann症候群 / Genome-wide paternal UPD / SNP array / uniparental dysomy / Beckwith-Wiedemann / 父性片親性ダイソミー / Beckwith Wiedemann症候群 / SNPアレイ / ベックウィズ・ビーデマン症候群 Less
  • Research Projects

    (3 results)
  • Research Products

    (37 results)
  • Co-Researchers

    (5 People)
  •  investigation of the new gene causing congenital anomalies of kidney and urinary tractPrincipal Investigator

    • Principal Investigator
      Ohtsuka Yasufumi
    • Project Period (FY)
      2018 – 2020
    • Research Category
      Grant-in-Aid for Early-Career Scientists
    • Review Section
      Basic Section 56030:Urology-related
    • Research Institution
      Saga University
  •  Molecular biological analysis of genome wide paternal uniparental disomyPrincipal Investigator

    • Principal Investigator
      Ohtsuka Yasufumi
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Embryonic/Neonatal medicine
    • Research Institution
      Saga University
  •  The relationship between paternal uniparental disomy and renal-urological features in patients with Beckwith-Wiedemann syndromePrincipal Investigator

    • Principal Investigator
      OHTSUKA Yasufumi
    • Project Period (FY)
      2011 – 2012
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Saga University

All 2020 2019 2016 2015 2014 2013 2012 2011 Other

All Journal Article Presentation Book Patent

  • [Book] 小児特発性ネフローゼ症候群 診療ガイドライン2013.2013

    • Author(s)
      一般社団法人日本小児腎臓病学会、大塚泰史(作成委員:一般療法担当)
    • Total Pages
      77
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-25461648
  • [Journal Article] Alport症候群の診断と治療2019

    • Author(s)
      大塚泰史
    • Journal Title

      小児科

      Volume: 60 Pages: 1647-1644

    • NAID

      40022075635

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K16700
  • [Journal Article] Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.2019

    • Author(s)
      Konishi KI, Mizuochi T, Yanagi T, Watanabe Y, Ohkubo K, Ohga S, Maruyama H, Takeuchi I, Sekine Y, Masuda K, Kikuchi N, Yotsumoto Y, Ohtsuka Y, Tanaka H, Kudo T, Noguchi A, Fuwa K, Mushiake S, Ida S, Fujishiro J, Yamashita Y, Taguchi T, Yamamoto K
    • Journal Title

      J Pediatr.

      Volume: 214 Pages: 151-157

    • DOI

      10.1016/j.jpeds.2019.07.039

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K06942, KAKENHI-PROJECT-18K16700, KAKENHI-PROJECT-16H02682
  • [Journal Article] Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.2016

    • Author(s)
      Ohtsuka Y, Higashimoto K, Oka T, Yatsuki H, Jozaki K, Maeda T, Kawahara K, Hamasaki Y, Matsuo M, Nishioka K, Joh K, Mukai T, Soejima H.
    • Journal Title

      Hum Mol Genet.

      Volume: 25 Issue: 7 Pages: 1406-19

    • DOI

      10.1093/hmg/ddw023

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-26670169, KAKENHI-PROJECT-16H00598
  • [Journal Article] Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY.2014

    • Author(s)
      Nozu K, Iijima K, Ohtsuka Y, Fu XJ, Kaito H, Nakanishi K, Vorechovsky I
    • Journal Title

      Mol Genet Genomic Med

      Volume: 2 Issue: 5 Pages: 451-451

    • DOI

      10.1002/mgg3.89

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-25893131, KAKENHI-PROJECT-26293203
  • [Journal Article] Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations2014

    • Author(s)
      Maeda T, Higashimoto K, Jozaki K, Hitomi H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H
    • Journal Title

      Genet Med

      Volume: 16(12) Issue: 12 Pages: 903-912

    • DOI

      10.1038/gim.2014.46

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25460409, KAKENHI-PROJECT-25461554, KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-25860898, KAKENHI-PROJECT-26670169
  • [Journal Article] Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.2014

    • Author(s)
      Ohtsuka Y, Higashimoto K, Sasaki K, Jozaki K, Yoshinaga H, Okamoto N, Takama Y, Kubota A, Nakayama M, Yatsuki H, Nishioka K, Joh K, Mukai T, Yoshiura KI, Soejima H.
    • Journal Title

      Clin Genet.

      Volume: 8 Issue: 3 Pages: 1-1

    • DOI

      10.1111/cge.12496

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-26670169, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084
  • [Journal Article] Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome2013

    • Author(s)
      Ken Higashimoto, Toshiyuki Maeda, Junichiro Okada, Yasufumi Ohtsuka, Kensaku Sasaki,Akiko Hirose, Makoto Nomiyama, Toshimitsu Takayanagi, Ryuji Fukuzawa, Hitomi Yatsuki,Kayoko Koide, Kenichi Nishioka, Keiichiro Joh, Yoriko Watanabe, Koh-ichiro Yoshiura andHidenobu Soejima
    • Journal Title

      Eur J Hum Genet

      Pages: 1-4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Journal Article] A novel de novo point mutation of OCT-binding site in the IGF2/H19-imprinting control region in a patient with Beckwith-Wiedemann syndrome.2013

    • Author(s)
      Higashimoto K, Jozaki K, Kosho T, Matsubara K, Sato T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, SoejimaH*
    • Journal Title

      Clin Genet

      Volume: in press Issue: 6 Pages: 539-544

    • DOI

      10.1111/cge.12318

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23249015, KAKENHI-PROJECT-23659181, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25461554, KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-25860898, KAKENHI-PROJECT-26670169
  • [Journal Article] Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.2013

    • Author(s)
      Higashimoto K, Maeda T, Okada J, Ohtsuka Y, Sasaki K, Hirose A, Nomiyama M, Takayanagi T, Fukuzawa R, Yatsuki H, Koide K, Nishioka K, Joh K, Watanabe Y, Yoshiura K, Soejima H.
    • Journal Title

      Eur J Hum Genet.

      Volume: 21(11) Pages: 1316-1319

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25461648
  • [Journal Article] 抗CFH抗体陽性およびCFHR1遺伝子欠失を伴うDEAP-HUSの1例2013

    • Author(s)
      岡 政史, 大塚 泰史, 稲田 由紀子, 佐藤 忠司, 吉田 瑶子, 藤村 吉博, Fan Xinping, 宮田 敏行, 濱崎 雄平.
    • Journal Title

      本小児腎臓病学会雑誌

      Volume: 26(2) Pages: 285-291

    • NAID

      130004495423

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25461648
  • [Journal Article] 小児腎移植におけるミコフェノール酸モフェチルの多施設共同オープンラベル臨床試験 有効性・安全性、薬物動態の評価.2011

    • Author(s)
      飯島一誠, 佐古まゆみ, 木村利美, 服部元史, 亀井宏一, 野津寛大, 宍戸清一郎, 相川厚, 森田研, 後藤芳充, 和田尚弘, 大塚泰史, 長田道夫, 斉藤真梨, 本田雅敬, 土田尚, 中村秀文
    • Journal Title

      日本小児腎臓病学会雑誌

      Volume: 24巻1号 Pages: 36-46

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Journal Article] MALL-NPHP1 遺伝子欠失を認めたSenior-Loken 症候群の一例2011

    • Author(s)
      石松菜那, 大塚泰史, 岡政史, 佐藤忠司, 濱崎雄平, 青木茂久, 杉本圭相, 竹村司.
    • Journal Title

      日本小児腎臓病学会雑誌

      Volume: 24巻2号 Pages: 62-66

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Journal Article] 小児腎移植におけるミコフェノール酸モフェチルの多施設共同オープンラベル臨床試験 有効性・安全性、薬物動態の評価.2011

    • Author(s)
      飯島一誠, 佐古まゆみ, 木村利美, 服部元史, 亀井宏一, 野津寛大, 宍戸清一郎, 相川厚, 森田研, 後藤芳充, 和田尚弘, 大塚泰史, 長田道夫, 斉藤真梨, 本田雅敬, 土田尚, 中村秀文
    • Journal Title

      日本小児腎臓病学会雑誌

      Volume: 24(1) Pages: 36-46

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Journal Article] MALL-NPHP1遺伝子欠失を認めたSenior-Löken症候群の一例2011

    • Author(s)
      石松菜那, 大塚泰史, 岡政史, 佐藤忠司, 濱崎雄平, 青木茂久, 杉本圭相, 竹村司.
    • Journal Title

      日本小児腎臓病学会雑誌

      Volume: 24(2) Pages: 62-66

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Journal Article] A notable case report of May-Hegglin anomaly with immune-complex-related nephropathy: a genetic and histological analysis.2011

    • Author(s)
      Ohtsuka Y, Kanaji T, Nishi M, Sakai N, Sato T, Aoki S, Wakayama K, Nakazato S, Hisano S, Sado Y, Kawachi H, Izuhara K, Hamasaki Y
    • Journal Title

      Clin Nephrol

      Volume: 75(3) Pages: 255-62

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Journal Article] A notable case report of May-Hegglin anomaly with immune-complex-related nephropathy: a genetic and histological analysis.2011

    • Author(s)
      Ohtsuka Y, Kanaji T, Nishi M, Sakai N, Sato T, Aoki S, Wakayama K, Nakazato S, Hisano S, Sado Y, Kawachi H, Izuhara K, Hamasaki Y.
    • Journal Title

      Clinical Nephrology

      Volume: 75(3) Pages: 255-62

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Patent] 造血幹細胞移植後の合併症リスクの検出方法、予測診断薬及びキット2020

    • Inventor(s)
      大塚泰史/岡村浩史/中前博久/進藤岳郎
    • Industrial Property Rights Holder
      大塚泰史/岡村浩史/中前博久/進藤岳郎
    • Industrial Property Rights Type
      特許
    • Filing Date
      2020
    • Data Source
      KAKENHI-PROJECT-18K16700
  • [Presentation] 超音波で腎臓のサイズを確認しよう!2019

    • Author(s)
      大塚泰史
    • Organizer
      第54回日本小児腎臓病学会
    • Data Source
      KAKENHI-PROJECT-18K16700
  • [Presentation] アルポート症候群~新たな展開~ アルポート症候群とBardoxolone Methyl2019

    • Author(s)
      大塚泰史
    • Organizer
      第62回日本腎臓学会
    • Data Source
      KAKENHI-PROJECT-18K16700
  • [Presentation] Beckwith-Wiedemann症候群の原因となる片親性父性ダイソミーの切断点領域の解析.2015

    • Author(s)
      大塚泰史、岡岳彦、川原弘三、八木ひとみ、東元健、副島英伸.
    • Organizer
      第60回日本人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2015-10-14
    • Data Source
      KAKENHI-PROJECT-25461648
  • [Presentation] シスチン尿症を伴うゲノムワイド父性片親性ダイソミー症例の遺伝子解析.2013

    • Author(s)
      大塚泰史、佐々木健作、城崎幸介、東元健、岡本伸彦、高間 勇一、窪田 昭男、松本富美中山 雅弘、吉浦孝一郎、副島英伸.
    • Organizer
      第48回日本小児腎臓病学会学術集会
    • Place of Presentation
      日本、徳島
    • Data Source
      KAKENHI-PROJECT-25461648
  • [Presentation] シスチン尿症を伴うゲノムワイド父性片親性ダイソミー症例の遺伝子解析.2013

    • Author(s)
      大塚泰史、佐々木健作、城崎幸介、東元健、岡本伸彦、高間 勇一、窪田 昭男、松本富美、中山 雅弘、吉浦孝一郎、副島英伸.
    • Organizer
      第58回日本人類遺伝学会.
    • Place of Presentation
      日本、宮城
    • Data Source
      KAKENHI-PROJECT-25461648
  • [Presentation] Treatment of cisplatin overdose in pediatric case.2013

    • Author(s)
      Yasufumi Ohtsuka, Masafumi Oka, Junya Eto, Masanori Nishi, Yuhei Hamasaki.
    • Organizer
      16th congress of the International Pediatric Nephrology Association.
    • Place of Presentation
      中華人民共和国(上海)
    • Data Source
      KAKENHI-PROJECT-25461648
  • [Presentation] Beckwith-Wiedemann症候群における片親性父性ダイソミーの多様性と臨床症状との関連.2012

    • Author(s)
      大塚泰史、前田寿幸、城崎幸介、八木ひとみ、東元健、副島英伸
    • Organizer
      第57回日本人類遺伝学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Presentation] 抗Factor H抗体にて発症したatypical HUS (aHUS)の 一 例2012

    • Author(s)
      大塚泰史、岡政史、稲田由紀子、石松菜那、佐藤忠司、濱崎雄平
    • Organizer
      長崎佐賀合同地方会
    • Place of Presentation
      長崎
    • Year and Date
      2012-08-12
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Presentation] The relationship between paternal uniparental disomy and clinical features in patients with Beckwith-Wiedemann syndrome.2012

    • Author(s)
      Yasufumi Ohtsuka, Kosuke Jozaki, Toshiyuki Maeda, Hitomi Yatsuki, Ken Higashimoto, Hidenobu Soejima.
    • Organizer
      American Society of Human Genetics Annual Meeting.
    • Place of Presentation
      米国サンフランシスコ
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Presentation] Beckwith-Wiedemann症候群における片親性父性ダイソミーの多様性と臨床症状との関連2012

    • Author(s)
      大塚泰史、前田寿幸、城崎幸介、八木ひとみ、東元健、副島英伸
    • Organizer
      第57回日本人類遺伝学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Presentation] The relationship between paternal uniparental disomy and clinical features in patients with Beckwith-Wiedemann syndrome2012

    • Author(s)
      Yasufumi Ohtsuka, Kosuke Jozaki, Toshiyuki Maeda, Hitomi Yatsuki, Ken Higashimoto, Hidenobu Soejima
    • Organizer
      American Society of Human Genetics Annual Meeting
    • Place of Presentation
      San Francisco
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Presentation] Beckwith-Wiedemann症候群における片親性父性ダイソミーの多様性と臨床症状との関連2012

    • Author(s)
      大塚泰史、前田寿幸、城崎幸介、八木ひとみ、東元健、副島英伸
    • Organizer
      第6回日本エピジェネティック研究会
    • Place of Presentation
      東京
    • Year and Date
      2012-05-14
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Presentation] A case of Senior Loken syndrome with a mutation of NPHP12011

    • Author(s)
      Sakai Nana, Ohtsuka Yasufumi, Oka Masafumi, Hamasaki Yuhei, Aoki Shigehisa, Sugimoto Keisuke, Takemura Tsukasa
    • Organizer
      日本小児腎臓病学会雑誌
    • Place of Presentation
      福岡
    • Year and Date
      2011-06-02
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Presentation] case of Pseudo-Bartter syndrome in a low birth weight infant caused by the mother's eating disorder.2011

    • Author(s)
      Ohtsuka Yasufumi, Oka Masafumi, Sakai Nana, Egashira Masakazu, Yamaguchi Tomona, Hamasaki Yuhei.
    • Organizer
      the 11th Asian congress of pediatric nephrology 2011
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Presentation] A case of Pseudo-Bartter syndrome in a low birth weight infant caused by the mother's eating disorder2011

    • Author(s)
      Ohtsuka Yasufumi, Oka Masafumi, Sakai Nana, Egashira Masakazu, Yamaguchi Tomona, Hamasaki Yuhei
    • Organizer
      日本小児腎臓病学会雑誌
    • Place of Presentation
      福岡
    • Year and Date
      2011-06-02
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Presentation] An Asian case of Schinzel-Giedion Syndrome with an SETBP1 mutation.2011

    • Author(s)
      Ohtsuka Yasufumi, Oka Masafumi, Sakai Nana, Aoki Shigehisa, Hamasaki Yuhei.
    • Organizer
      the 11th Asian congress of pediatric nephrology 2011
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Presentation] An Asian case of Schinzel-Giedion Syndrome with an SETBP1 mutation2011

    • Author(s)
      Ohtsuka Yasufumi, Oka Masafumi, Sakai Nana, Aoki Shigehisa, Hamasaki Yuhei
    • Organizer
      日本小児腎臓病学会雑誌
    • Place of Presentation
      福岡
    • Year and Date
      2011-06-02
    • Data Source
      KAKENHI-PROJECT-23791186
  • [Presentation] 小児腎臓医からみた成人腎Fabry病スクリーニング.

    • Author(s)
      大塚泰史
    • Organizer
      日本小児腎臓病学会
    • Place of Presentation
      秋田
    • Year and Date
      2014-06-05 – 2014-06-07
    • Data Source
      KAKENHI-PROJECT-25461648
  • [Presentation] Beckwith-Wiedemann症候群における片親性父性ダイソミーの多様性と臨床症状との関連.

    • Author(s)
      大塚泰史、前田寿幸、城崎幸介、八木ひとみ、東元健、副島英伸
    • Organizer
      第6回日本エピジェネティック研究会.
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23791186
  • 1.  Soejima Hidenobu (30304885)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 6 results
  • 2.  Yoshiura Koh-ichiro (00304931)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 3.  OGATA Tsutomu
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 4.  FUKAMI Maki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 5.  山本 健
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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