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Ohara Osamu  小原 收

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OHARA Osamu  小原 收

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Researcher Number 20370926
Other IDs
Affiliation (Current) 2025: 公益財団法人かずさDNA研究所, その他部局等, 副所長
2025: 千葉大学, 未来医療教育研究機構, 特任教授
Affiliation (based on the past Project Information) *help 2016 – 2024: 公益財団法人かずさDNA研究所, その他部局等, 副所長
2017: かずさDNA研究所, ヒトゲノム研究部, 部長
2017: 公益財団法人かずさDNA研究所, ゲノム医療推進部, 部長
2016: 公益財団法人かずさDNA研究所, ヒトゲノム研究部, 副所長
2016: 公益財団法人かずさDNA研究所, ヒトゲノム研究部, 部長 … More
2015 – 2016: 公益財団法人かずさDNA研究所, 技術開発研究部, 副所長
2015 – 2016: 公益財団法人かずさDNA研究所, 技術開発研究部, 副所長・部長
2014 – 2016: 公益財団法人かずさDNA研究所, その他部局等, その他
2015: かずさDNA研究所, ヒトゲノム研究部, 副所長
2015: 理化学研究所, 免疫ゲノミクス研究グループ, グループディレクター
2014: 公益財団法人かずさDNA研究所, その他部局等, 副所長
2014: かずさDNA研究所, ヒトゲノム研究部, 部長
2014: 公益財団法人かずさDNA研究所, 副所長
2014: 公益財団法人かずさDNA研究所, ヒトゲノム研究部, 研究室長
2013: (財)かずさDNA 研究所, ヒトゲノム研究部, 部長
2013: (財)かずさDNA研究所, ヒトゲノム研究部, 部長
2013: かずさ DNA 研究所, ヒトゲノム研究部, 部長
2013: かずさDNA研究所, ヒトゲノム研究部, 副所長
2012 – 2013: 公益財団法人かずさDNA研究所, その他部局等, その他
2012 – 2013: 公益財団法人かずさDNA研究所, ヒトゲノム研究部, 副所長
2012: 公益財団法人かずさDNA研究所, ヒトゲノム研究部, 副所長
2012: 公益財団法人かずさDNA研究所, ヒトゲノム研究部, 部長
2011: (財)かずさDNA研究所, ヒトゲノム研究所, 部長
2011: かずさDNA研究所, ヒトゲノム究部
2011: 独立行政法人理化学研究所, 免疫アレルギー科学総合研究センター, グループディレクター
2011: 財団法人かずさディー・エヌ・エー研究所, ヒトゲノム研究部, 部長
2010 – 2011: (財)かずさDNA研究所, ヒトゲノム研究部, 副所長
2010: (財)かずさDNA研究所, ヒトゲノム研究部, 部長
2009: 財団法人かずさDNA研究所, ヒトゲノム研究部, 部長
2006: RIKEN, Lab. For Immunogenomics, Group Director, 免疫ゲノミク研究グループ, グループディレクター Less
Review Section/Research Field
Except Principal Investigator
Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Medium-sized Section 49:Pathology, infection/immunology, and related fields / Dermatology / Basic Section 52010:General internal medicine-related / Basic Section 53020:Cardiology-related / Hematology / Respiratory surgery / Biological Sciences / Immunology / Pathological medical chemistry / Control engineering
Keywords
Except Principal Investigator
原発性免疫不全症 / CAPS / NLRP3 / STAT1 / 自己炎症性疾患 / iPS細胞 / 全エクソーム解析 / 炎症 / 自然免疫 / 次世代シークエンサー … More / インフラマソーム / 免疫学 / アレルギー / 遺伝子異常 / 病態解析 / IFIH1 / Aicardi-Goutieres症候群 / AID / AIF / SMN / CMCD / 自己炎症疾患 / 軟骨細胞 / モザイシズム / 遺伝子 / がん幹細胞 / トランスクリプトーム / 体細胞モザイク / 自己抗体 / 中和抗体 / RelA / インターフェロン過剰 / 易感染性 / I型インターフェロン / ウイルス / ロングリード / 次世代シーケンサー / 診断率向上 / ロングリードシーケンス / 診断困難例 / RNAシーケンス / 全ゲノム解析 / ロングリードNGS / VTE / 静脈血栓塞栓症 / パネル検査 / Liposome flotation assay / 高速原子力間顕微鏡 / ノックアウトゼブラフィッシュ / NGSパネル検査 / プロテインS(PS)欠乏症 / プロテインC(PC)欠乏症 / アンチトロンビン(AT)欠乏症 / 遺伝性血栓症 / 慢性皮膚粘膜カンジダ感染症 / 脱リン酸化酵素 / 多発性骨髄炎 / IL-17RC / RORγT / 慢性皮膚粘膜カンジダ感染 / CMC / MSMD / 慢性皮膚粘膜カンジダ症 / メンデル遺伝型マイコバクテリア易感染症 / 大動脈 / 遺伝性疾患 / 循環器 / 病因遺伝子 / トランスクリプトーム解析 / エクソーム解析 / オミックス解析 / NEMO / プロテオーム / 未診断 / targeted RNA sequence / 未診断症例 / プロテオーム解析 / ターゲットRNAシーケンス / マルチオミックス解析 / P糖蛋白 / Bortezomib / NF-κB / Epstein-Barr Virus / EBV陽性T、NK細胞リンパ増殖症 / NF-kB / APOBEC3B / bortezomib / NF-kB / EBウイルス / EBV陽性T,NKリンパ増殖症 / MAFB / 遺伝子改変マウス / 遺伝性炎症性疾患 / NLRC4 / 遺伝子探索 / deep intron変異 / PCYT1A / 炎症性疾患 / メバロン酸キナーゼ欠損症 / FLNA異常症 / NLRC4異常症 / 機能病態解析 / 迅速スクリーニング / バイオマーカー検索 / 細胞ライブラリー / 機能解析系の確立 / 迅速診断 / 機能解析 / 分子病態解析 / 迅速診断法 / 血球貪食性リンパ組織球症 / IKZF1 / ZAP70 / NRAS / XIAP / SH2D1A / 自己免疫性リンパ増殖症候群 / X連鎖リンパ増殖症候群 / 新規治療法の開発 / 国内患者疫学調査 / 小児消化器学 / 先天異常 / 小児科 / エキソンスキップ / FLNA / Aicardi-Goutieres 症候群 / パターン認識受容体 / 寒冷刺激 / MDA5 / インターフェロン / イムノグラム / 次世代シーケンス / 癌免疫療法 / 原発性肺癌 / 癌ワクチン / 腫瘍免疫 / 網羅的遺伝子解析 / 個別化医療 / neoantigen / 遺伝子変異 / 肺癌 / Somatic mutations / committment / secondary response / survival / memory B cell genes / memory B cell / 抗原受容体 / Ras / 抗アポトーシス / 呼吸鎖複合体 / ミトコンドリア / 生存維持 / 抗アポトーシス活性 / 抗酸化ストレス / 抗体産生細胞 / 記憶B細胞系列決定 / 体細胞変異 / 系列決定 / 二次免疫反応 / 長期生存 / 特異的遺伝子 / 記憶B細胞 / 臨床 / 単球、マクロファージ / 単球・マクロファージ / 病態解明 / 治療 / ノックインマウス / マウス / IL-17 / T細胞免疫記憶 / Bach2 / 記憶 / 老化 / 分化 / T細胞 / 免疫 / 単細胞解析 / 軟骨分化 / 遺伝子診断 / 自己炎症 / ELISA / SOX9 / FilaminA / FilaminA異常症 / 不明熱 / 軟骨 / メンデル遺伝疾患 / 自己炎症性症候群 / 悪性黒色腫 / がん / NOD2 / 肉芽腫 / 皮膚炎症・再生学 / 分類不能型免疫不全症 / 責任遺伝子探索 / レパートリー解析 / 免疫学的寛容 / 自己免疫疾患 / 分類不能免疫不全症 / mevalonate kinase / インフラマゾーム / 高IgD症候群 / 感染症 / 発生・分化 / 移植・再生医療 / 小児免疫・アレルギー・膠原病学 / マススクリーニング / 重症複合免疫不全症 / 網羅的遺伝子発現解析 / 疾患関連分子 / ミエロイド / 急性骨髄性白血病 / エクソンアレイ / スプライシング / 白血病幹細胞 / 骨髄性白血病 / ゲノム / マイクロアレイ / 細胞実験系 / 制御性能解析 / 動的モデリング / 非線形制御 / 遺伝子ネットワーク / CINCA症候群 / 膠原病 / 小児免疫 Less
  • Research Projects

    (28 results)
  • Research Products

    (98 results)
  • Co-Researchers

    (69 People)
  •  遺伝性血栓症の病因(オミックス解析)と病態の解明

    • Principal Investigator
      森下 英理子
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52010:General internal medicine-related
    • Research Institution
      Kanazawa University
  •  Long-read sequencing analysis for difficult to diagnose cases of primary immunodeficiency

    • Principal Investigator
      岡田 賢
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
    • Review Section
      Medium-sized Section 49:Pathology, infection/immunology, and related fields
    • Research Institution
      Hiroshima University
  •  Elucidating the etiopathogenesis of primary immunodeficiency with a focus on susceptibility to viruses

    • Principal Investigator
      岡田 賢
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Hiroshima University
  •  Pathophysiological Study on Aortopathy towards Prevention

    • Principal Investigator
      MORISAKI TAKAYUKI
    • Project Period (FY)
      2019 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 53020:Cardiology-related
    • Research Institution
      The University of Tokyo
  •  Characterization of etiology of primary immunodeficiency by focusing on host susceptibility to specific pathogens

    • Principal Investigator
      OKADA SATOSHI
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Hiroshima University
  •  Multi-OMICS approaches to investigate molecular pathogenesis of primary immune deficiency

    • Principal Investigator
      OKADA SATOSHI
    • Project Period (FY)
      2018 – 2020
    • Research Category
      Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
    • Review Section
      Medium-sized Section 49:Pathology, infection/immunology, and related fields
    • Research Institution
      Hiroshima University
  •  Development of personalized lung cancer vaccine targeting neoantigens

    • Principal Investigator
      Nakajima Jun
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Respiratory surgery
    • Research Institution
      The University of Tokyo
  •  Exploration of the causative genes and elucidation of the pathophysiology on immune dysregulatory diseases with intractable inflammation

    • Principal Investigator
      Ryuta Nishikomori
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Function of APOBEC3 in EBV-positive T or NK-cell lymphoproliferative diseases

    • Principal Investigator
      ARAI Ayako
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Hematology
    • Research Institution
      Tokyo Medical and Dental University
  •  Establishing a platform for molecular analysis and drug innovation of auto-inflammatory disorders

    • Principal Investigator
      Heike Toshio
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Elucidation of molecular mechanism of cytopenia associated with immunodeficiency/immune disorder

    • Principal Investigator
      Morio Tomohiro
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tokyo Medical and Dental University
  •  Investigation of pathology and development of specific medial care system and treatment associated with FLNA deficiency

    • Principal Investigator
      Kawai Tomoki
    • Project Period (FY)
      2014 – 2015
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Establishment of novel diagnosis and analysis of pathogenesis of herediatry lymphoproliferative disorders

    • Principal Investigator
      Kanegane Hirokazu
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tokyo Medical and Dental University
  •  Establishing an innovative platform for the analysis of hemophagocytic lymphohistiocytosis

    • Principal Investigator
      Yasumi Takahiro
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  The study to clarify the molecular mechanism of fate decision of activated CD4 T cells

    • Principal Investigator
      YAMASHITA Masakatsu
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Immunology
    • Research Institution
      Ehime University
  •  Establishment of mouse model of chronic mucocutaneous candidiasis disease and use them to find therapeutic target

    • Principal Investigator
      OKADA Satoshi
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Hiroshima University
  •  Elucidation of cold-induced gene induction mechanism by analyzing Mendelian-inherited diseases with cold-induced inflammation

    • Principal Investigator
      NISHIKOMORI RYUTA
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Exploration of the responsible gene and the pathophysiology for unidentified fever syndromes by whole genome analysis and cell-based engineering

    • Principal Investigator
      NISHIKOMORI Ryuta
    • Project Period (FY)
      2012 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Analysis and development of medical treatment for autoinflammatory diseases

    • Principal Investigator
      HEIKE TOSHIO
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Research on molecular mechanisms of break in immunological tolerance in disorders caused by single-gene defect

    • Principal Investigator
      MORIO Tomohiro
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tokyo Medical and Dental University
  •  Molecular mechanism on granuloma formation based on the analysis with cellular and molecular biology

    • Principal Investigator
      KAMBE Naotomo
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Dermatology
    • Research Institution
      Chiba University
  •  A study to establish system to evaluate diversities of cell populations of melanoma

    • Principal Investigator
      HIROYUKI Matsue
    • Project Period (FY)
      2011 – 2012
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Dermatology
    • Research Institution
      Chiba University
  •  Research for developing of a screening method for the congenital immunodeficiency by KREC/TREC to apply the method to the pathologic analysis

    • Principal Investigator
      NONOYAMA Shigeaki
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      National Defense Medical College
  •  Development of CINCA syndrome therapy based upon the pathophysiology of CINCA syndrome elucidated by cytoengineering.

    • Principal Investigator
      NISHIKOMORI Ryuta
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  遺伝子制御ネットワークの動的挙動の解明:制御論的理論解析と実験による検証

    • Principal Investigator
      原 辰次
    • Project Period (FY)
      2009 – 2010
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Control engineering
    • Research Institution
      The University of Tokyo
  •  Comprehensive analysis of splicing variants characteristic of acute myelogenous leukemia stem cells

    • Principal Investigator
      KITAMURA Hiroshi
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pathological medical chemistry
    • Research Institution
      Nagoya City University
      The Institute of Physical and Chemical Research
  •  Development of easy and cost-effective mass-screening of severe combined immunodeficiency using neonatal guthrie cards.

    • Principal Investigator
      OSHIMA Koichi
    • Project Period (FY)
      2009 – 2010
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kyoto University
  •  Memory B cell commitment, maintenance and terminal differentiation

    • Principal Investigator
      TAKEMORI Toshitada
    • Project Period (FY)
      2004 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      RIKEN
      National Institute of Infectious Diseases

All 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 Other

All Journal Article Presentation Patent

  • [Journal Article] Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC2023

    • Author(s)
      Noma Kosuke、Tsumura Miyuki、Nguyen Tina、Asano Takaki、Sakura Fumiaki、Tamaura Moe、Imanaka Yusuke、Mizoguchi Yoko、Karakawa Shuhei、Hayakawa Seiichi、Shoji Takayo、Hosokawa Junichi、Izawa Kazushi、Ling Yun、Casanova Jean-Laurent、Puel Anne、Tangye Stuart G.、Ma Cindy S.、Ohara Osamu、Okada Satoshi
    • Journal Title

      Journal of Clinical Immunology

      Volume: 44 Issue: 1 Pages: 18-18

    • DOI

      10.1007/s10875-023-01601-9

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K15921, KAKENHI-PROJECT-23K14979, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K07268, KAKENHI-PROJECT-23K07291, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-23K24302
  • [Journal Article] A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis2023

    • Author(s)
      Sakura F, Noma K, Asano T, Tanita K, Toyofuku E, Kato K, Tsumura M, Nihira H, Izawa K, Mitsui-Sekinaka K, Konno R, Kawashima Y, Mizoguchi Y, Karakawa S, Hayakawa S, Kawaguchi H, Imai K, Nonoyama S, Yasumi T, Ohnishi H, Kanegane H, Ohara O, Okada S
    • Journal Title

      PNAS Nexus

      Volume: 2 Issue: 4 Pages: 1-12

    • DOI

      10.1093/pnasnexus/pgad104

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-22K20772, KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-23K07291, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-22K15939, KAKENHI-PROJECT-23K24302
  • [Journal Article] Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function2023

    • Author(s)
      Kaneko Shuya、Sakura Fumiaki、Tanita Kay、Shimbo Asami、Nambu Ryusuke、Yoshida Masashi、Umetsu Shuichiro、Inui Ayano、Okada Chizuru、Tsumura Miyuki、Yamada Mamiko、Suzuki Hisato、Kosaki Kenjiro、Ohara Osamu、Shimizu Masaki、Morio Tomohiro、Okada Satoshi、Kanegane Hirokazu
    • Journal Title

      Immunotherapy Advances

      Volume: 3 Issue: 1

    • DOI

      10.1093/immadv/ltad027

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-22KK0113, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-23K07268, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-23K24302
  • [Journal Article] Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience.2022

    • Author(s)
      Miyamoto T, Honda Y, Izawa K, Kanazawa N, Saito MK, Takita J, Nishikomori R, Yasumi T, et al.
    • Journal Title

      Front Immunol

      Volume: 13 Pages: 905960-905960

    • DOI

      10.3389/fimmu.2022.905960

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08798, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-22K06999, KAKENHI-PROJECT-22K07829, KAKENHI-PROJECT-22K07867, KAKENHI-PROJECT-19K08754, KAKENHI-PROJECT-23K24302
  • [Journal Article] Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-192022

    • Author(s)
      Eto S, Nukui Y, Tsumura M, Nakagama Y, Kashimada K, Mizoguchi Y, Utsumi T, Taniguchi M, Sakura F, Noma K, Yoshida Y, Ohshimo S, Nagashima S, Okamoto K, Endo A, Imai K, Kanegane H, Ohnishi H, Hirata S, Sugiyama E, Shime N, Ito M, Ohge H, Kido Y, Bastard P, Casanova JL, Ohara O, Tanaka J, Morio T, Okada S
    • Journal Title

      Journal of Clinical Immunology

      Volume: 42 Issue: 7 Pages: 1360-1370

    • DOI

      10.1007/s10875-022-01308-3

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-22K07887, KAKENHI-PROJECT-21K15905, KAKENHI-PROJECT-20K17460, KAKENHI-PROJECT-23K24302
  • [Journal Article] Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT32021

    • Author(s)
      Tanita Kay、Sakura Fumiaki、Nambu Ryusuke、Tsumura Miyuki、Imanaka Yusuke、Ohnishi Hidenori、Kato Zenichiro、Pan Jie、Hoshino Akihiro、Suzuki Koji、Yasutomi Motoko、Umetsu Shuichiro、Okada Chizuru、Takagi Masatoshi、Imai Kohsuke、Ohara Osamu、Muise Alexo M.、Okada Satoshi、Morio Tomohiro、Kanegane Hirokazu
    • Journal Title

      Journal of Clinical Immunology

      Volume: - Issue: 4 Pages: 780-790

    • DOI

      10.1007/s10875-021-00975-y

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K07840, KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-20J10721
  • [Journal Article] Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings2021

    • Author(s)
      Imanaka Yusuke、Taniguchi Maki、Doi Takehiko、Tsumura Miyuki、Nagaoka Rie、Shimomura Maiko、Asano Takaki、Kagawa Reiko、Mizoguchi Yoko、Karakawa Shuhei、Arihiro Koji、Imai Kohsuke、Morio Tomohiro、Casanova Jean-Laurent、Puel Anne、Ohara Osamu、Kamei Katsuhiko、Kobayashi Masao、Okada Satoshi
    • Journal Title

      Journal of Clinical Immunology

      Volume: - Issue: 5 Pages: 975-986

    • DOI

      10.1007/s10875-021-00988-7

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19K17301, KAKENHI-PROJECT-21K15904, KAKENHI-PROJECT-21K15905
  • [Journal Article] IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation2020

    • Author(s)
      Nishimura Shiho、Kobayashi Yoshiyuki、Ohnishi Hidenori、Moriya Kunihiko、Tsumura Miyuki、Sakata Sonoko、Mizoguchi Yoko、Takada Hidetoshi、Kato Zenichiro、Sancho-Shimizu Vanessa、Picard Capucine、Irani Sarosh R.、Ohara Osamu、Casanova Jean-Laurent、Puel Anne、Ishikawa Nobutsune、Okada Satoshi、Kobayashi Masao
    • Journal Title

      Journal of Clinical Immunology

      Volume: 41 Issue: 1 Pages: 125-135

    • DOI

      10.1007/s10875-020-00885-5

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19H03613, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07840, KAKENHI-PROJECT-18K07847, KAKENHI-PROJECT-18K15716, KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-21K07791
  • [Journal Article] Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations2020

    • Author(s)
      Sakata Sonoko、Tsumura Miyuki、Matsubayashi Tadashi、Karakawa Shuhei、Kimura Shunsuke、Tamaura Moe、Okano Tsubasa、Naruto Takuya、Mizoguchi Yoko、Kagawa Reiko、Nishimura Shiho、Imai Kohsuke、Le Voyer Tom、Casanova Jean-Laurent、Bustamante Jacinta、Morio Tomohiro、Ohara Osamu、Kobayashi Masao、Okada Satoshi
    • Journal Title

      International Immunology

      Volume: 32 Issue: 10 Pages: 663-671

    • DOI

      10.1093/intimm/dxaa043

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-19K17301, KAKENHI-PROJECT-20K22780, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228
  • [Journal Article] Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity2020

    • Author(s)
      Okano Tsubasa、Imai Kohsuke、Naruto Takuya、Okada Satoshi、Yamashita Motoi、Yeh Tzu-wen、Ono Shintaro、Tanaka Keisuke、Okamoto Keisuke、Tanita Kay、Matsumoto Kazuaki、Toyofuku Etsushi、Kumaki-Matsumoto Eri、Okamura Miko、Ueno Hiroo、Ogawa Seishi、Ohara Osamu、Takagi Masatoshi、Kanegane Hirokazu、Morio Tomohiro
    • Journal Title

      Journal of Clinical Immunology

      Volume: 40 Issue: 5 Pages: 729-740

    • DOI

      10.1007/s10875-020-00798-3

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19H05656, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18KK0228
  • [Journal Article] Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice2019

    • Author(s)
      Tamaura Moe、Satoh-Takayama Naoko、Tsumura Miyuki、Sasaki Takaharu、Goda Satoshi、Kageyama Tomoko、Hayakawa Seiichi、Kimura Shunsuke、Asano Takaki、Nakayama Manabu、Koseki Haruhiko、Ohara Osamu、Okada Satoshi、Ohno Hiroshi、Kobayashi Masao
    • Journal Title

      International Immunology

      Volume: - Issue: 4 Pages: 259-272

    • DOI

      10.1093/intimm/dxz079

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18KK0228, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-17K10112, KAKENHI-PROJECT-20K08158, KAKENHI-PLANNED-19H05745, KAKENHI-PROJECT-16H02622, KAKENHI-PROJECT-18K07189, KAKENHI-PROJECT-18K07847
  • [Journal Article] NK cell and IFN signatures are positive prognostic biomarkers for resectable pancreatic cancer2018

    • Author(s)
      Hoshikawa Mayumi、Aoki Taku、Matsushita Hirokazu、Karasaki Takahiro、Hosoi Akihiro、Odaira Kosuke、Fujieda Nao、Kobayashi Yukari、Kambara Kaori、Ohara Osamu、Arita Junichi、Hasegawa Kiyoshi、Kakimi Kazuhiro、Kokudo Norihiro
    • Journal Title

      Biochem Biophys Res Commun

      Volume: 495 Issue: 2 Pages: 2058-2065

    • DOI

      10.1016/j.bbrc.2017.12.083

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04942, KAKENHI-PROJECT-15K10577, KAKENHI-PROJECT-16K07162
  • [Journal Article] Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq2017

    • Author(s)
      Nakayama Manabu、Oda Hirotsugu、Nakagawa Kenji、Yasumi Takahiro、Kawai Tomoki、Izawa Kazushi、Nishikomori Ryuta、Heike Toshio、Ohara Osamu
    • Journal Title

      Biochemistry and Biophysics Reports

      Volume: 9 Pages: 146-152

    • DOI

      10.1016/j.bbrep.2016.12.002

    • NAID

      120006355733

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K19640, KAKENHI-PROJECT-15H04876
  • [Journal Article] Live-attenuated vaccines in a cryopyrin-associated periodic syndrome patient receiving canakinumab treatment during infancy2017

    • Author(s)
      Watanabe, M. Nishikomori, R. Fujimaki, Y. Heike, T. Ohara, A. Saji, T.
    • Journal Title

      Clin Case Rep

      Volume: 11 Issue: 11 Pages: 1750-1755

    • DOI

      10.1002/ccr3.1149

    • NAID

      120006533285

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Journal Article] An Immunogram for the Cancer-Immunity Cycle: Towards Personalized Immunotherapy of Lung Cancer2017

    • Author(s)
      Karasaki Takahiro、Nagayama Kazuhiro、Kuwano Hideki、Nitadori Jun-ichi、Sato Masaaki、Anraku Masaki、Hosoi Akihiro、Matsushita Hirokazu、Morishita Yasuyuki、Kashiwabara Kosuke、Takazawa Masaki、Ohara Osamu、Kakimi Kazuhiro、Nakajima Jun
    • Journal Title

      J Thorac Oncol

      Volume: 12 Issue: 5 Pages: 791-803

    • DOI

      10.1016/j.jtho.2017.01.005

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04942, KAKENHI-PROJECT-16H04708
  • [Journal Article] Common Variable Immunodeficiency Caused by FANC Mutations2017

    • Author(s)
      Sekinaka Y., Mitsuiki N., Imai K., Yabe M., Yabe H., Mitsui-Sekinaka K., Honma K., Takagi M., Arai A., Yoshida K., Okuno Y., Shiraishi Y., Chiba K., Tanaka H., Miyano S., Muramatsu H., Kojima S., Hira A., Takata M., Ohara O., Ogawa S., Morio T., Nonoyama S.
    • Journal Title

      Journal of clinical immunology

      Volume: 37 Issue: 5 Pages: 434-444

    • DOI

      10.1007/s10875-017-0396-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26221308, KAKENHI-PROJECT-15H01738, KAKENHI-PROJECT-15K09468, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09647
  • [Journal Article] Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection.2017

    • Author(s)
      Kawasaki Y, Oda H, Ito J, Niwa A, Tanaka T, Hijikata A, Seki R, Nagahashi A, Osawa M, Asaka I, Watanabe A, Nishimata S, Shirai T, Kawashima H, Ohara O, Nakahata T, Nishikomori R, Heike T, Saito MK.
    • Journal Title

      Arthritis Rheumatol.

      Volume: 69 Issue: 2 Pages: 447-459

    • DOI

      10.1002/art.39960

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26253062, KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-15K00411, KAKENHI-PROJECT-15K06921, KAKENHI-PROJECT-15K21487
  • [Journal Article] Prediction and prioritization of neoantigens: integration of RNA sequencing data with whole-exome sequencing.2017

    • Author(s)
      Karasaki T, Nagayama K, Kuwano H, Nitadori JI, Sato M, Anraku M, Hosoi A, Matsushita H, Takazawa M, Ohara O, Nakajima J, Kakimi K.
    • Journal Title

      Cancer Sci.

      Volume: 108(2) Issue: 2 Pages: 170-177

    • DOI

      10.1111/cas.13131

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04942, KAKENHI-PROJECT-16H04708, KAKENHI-PROJECT-26462124, KAKENHI-PROJECT-15K14403, KAKENHI-PROJECT-15K10577, KAKENHI-PROJECT-16K07162
  • [Journal Article] A CD57+ CTL degranulation assay effectively identifies familial hemophagocytic lymphohistiocytosis type 3 patients2017

    • Author(s)
      Masayuki Hori, Takahiro Yasumi, Saeko Shimodera, Hirofumi Shibata, Eitaro Hiejima, Hirotsugu Oda, Kazushi Izawa, Tomoki Kawai, Masataka Ishimura, Naoko Nakano, Ryutaro Shirakawa, Ryuta Nishikomori, Hidetoshi Takada, Satoshi Morita, Hisanori Horiuchi, Osamu Ohara, Eiichi Ishii, and Toshio Heike
    • Journal Title

      Journal of Clinical Immunology

      Volume: 37 Issue: 1 Pages: 92-99

    • DOI

      10.1007/s10875-016-0357-3

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26461582, KAKENHI-PROJECT-15K19623, KAKENHI-PROJECT-16K08574, KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-15K09655
  • [Journal Article] Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function2016

    • Author(s)
      Oda H., Sato T., Kunishima S., Nakagawa K., Izawa K., Hiejima E., Kawai T., Yasui T., Doi H., Katamura K., Numabe H., Okamoto S., Nakase H., Hijikata A., Ohara O., Suzuki H., Morisaki H., Morisaki T., Nunoi H., Hattori S., Nishikomori R., Heike T.
    • Journal Title

      Eur J Hum Genet

      Volume: 24 Issue: 3 Pages: 408-414

    • DOI

      10.1038/ejhg.2015.119

    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-25461143, KAKENHI-PROJECT-26860796
  • [Journal Article] A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.2016

    • Author(s)
      Hayakawa S, Okada S, Tsumura M, Sakata S, Ueno Y, Imai K, Morio T, Ohara O, Chayama K, Kobayashi M.
    • Journal Title

      J Clin Immunol.

      Volume: 36 Pages: 28-32

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293244
  • [Journal Article] Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey2016

    • Author(s)
      Ueda, N. Ida, H. Washio, M. Miyahara, H. Tokunaga, S. Tanaka, F. Takahashi, H. Kusuhara, K. Ohmura, K. Nakayama, M. Ohara, O. Nishikomori, R. Minota, S. Takei, S. Fujii, T. Ishigatsubo, Y. Tsukamoto, H. Tahira, T. Horiuchi, T.
    • Journal Title

      Arthritis Rheumatol

      Volume: 68 Issue: 11 Pages: 2760-2771

    • DOI

      10.1002/art.39793

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15H04876, KAKENHI-PROJECT-15K09527, KAKENHI-PROJECT-16K09913
  • [Journal Article] Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.2016

    • Author(s)
      5.Sato T, Okano T, Tanaka-Kubota M, Kimura S, Miyamoto S, Ono S, Yamashita M, Mitsuiki N, Takagi M, Imai K, Kajiwara M, Ebato T, Ogata S, Oda H, Ohara O, Kanegane H, Morio T.
    • Journal Title

      Pediatr Int.

      Volume: 58 Issue: 10 Pages: 1076-1080

    • DOI

      10.1111/ped.13070

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-26461570, KAKENHI-PROJECT-15K09640
  • [Journal Article] Identification of Individual Cancer-Specific Somatic Mutations for Neoantigen-Based Immunotherapy of Lung Cancer.2016

    • Author(s)
      Karasaki T, Nagayama K, Kawashima M, Hiyama N, Murayama T, Kuwano H, Nitadori J, Anraku M, Sato M, Miyai M, Hosoi A, Matsushita H, Kikugawa S, Matoba R, Ohara O, Kakimi K, Nakajima J
    • Journal Title

      Journal of Thoracic Oncology

      Volume: 11(3) Issue: 3 Pages: 324-33

    • DOI

      10.1016/j.jtho.2015.11.006

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26462124, KAKENHI-PROJECT-15K14403, KAKENHI-PROJECT-15H04942, KAKENHI-PROJECT-25430148, KAKENHI-PROJECT-25462014, KAKENHI-PROJECT-24390326
  • [Journal Article] Laboratory parameters identify familial haemophagocytic lymphohistiocytosis from other forms of paediatric haemophagocytosis2015

    • Author(s)
      Yasumi T, Hori M, Hiejima E, Shibata H, Izawa K, Oda H, Yoshioka K, Nakagawa K, Kawai T, Nishikomori R, Ohara O, Heike T
    • Journal Title

      British Journal of Haematology

      Volume: 170 Issue: 4 Pages: 532-538

    • DOI

      10.1111/bjh.13461

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26461582, KAKENHI-PROJECT-25670475
  • [Journal Article] Wiskott-Aldrich syndrome in a girl caused by heterozygous WASP mutation and extremely skewed X-chromosome inactivation: a novel association with maternal uniparental isodisomy 62015

    • Author(s)
      Takimoto T, Takada H, Ishimura M, Kirino M, Hata K, Ohara O, Morio T, Hara T
    • Journal Title

      Neonatology

      Volume: 107 Issue: 3 Pages: 185-190

    • DOI

      10.1159/000370059

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24591551, KAKENHI-PROJECT-25860868, KAKENHI-PROJECT-25860870, KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-15K09655
  • [Journal Article] Enhanced chondrogenesis of induced pluripotent stem cells from patients with neonatal-onset multisystem inflammatory disease occurs via the caspase 1-independent cAMP/protein kinase A/CREB pathway2015

    • Author(s)
      Yokoyama, K. Ikeya, M. Umeda, K. Oda, H. Nodomi, S. Nasu, A. Matsumoto, Y. Izawa, K. Horigome, K. Kusaka, T. Tanaka, T. Saito, M. K. Yasumi, T. Nishikomori, R. Ohara, O. Nakayama, N. Nakahata, T. Heike, T. Toguchida, J.
    • Journal Title

      Arthritis Rheumatol

      Volume: 67 Issue: 1 Pages: 302-314

    • DOI

      10.1002/art.38912

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24390263, KAKENHI-PROJECT-24390353, KAKENHI-PROJECT-24591507, KAKENHI-PROJECT-25461591, KAKENHI-PROJECT-26253062, KAKENHI-PROJECT-26670498, KAKENHI-PROJECT-15K15549
  • [Journal Article] RAG1 Deficiency May Present Clinically as Selective IgA Deficiency.2015

    • Author(s)
      Kato T, Crestani E, Kamae C, Honma K, Yokosuka T, Ikegawa T, Nishida N, Kanegane H, Wada T, Yachie A, Ohara O, Morio T, Notarangelo LD, Imai K, Nonoyama S.
    • Journal Title

      J Clin Immunol.

      Volume: 35(3) Issue: 3 Pages: 280-8

    • DOI

      10.1007/s10875-015-0146-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09642, KAKENHI-PROJECT-15K15396, KAKENHI-PROJECT-26461567, KAKENHI-PROJECT-26293250
  • [Journal Article] RAG1 Deficiency May Present Clinically as Selective IgA Deficiency.2015

    • Author(s)
      Kato T, Crestani E, Kamae C, Honma K, Yokosuka T, Ikegawa T, Nishida N, Kanegane H, Wada T, Yachie A, Ohara O, Morio T, Notarangelo LD, Imai K, Nonoyama S.
    • Journal Title

      J. Clin. Immunol.

      Volume: 35 Pages: 280-8

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293244
  • [Journal Article] Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.2015

    • Author(s)
      Tamura S, Higuchi K, Tamaki M, Inoue C,Awazawa R,Mitsuki N,Nakazawa Y,Mishima H,Takahashi K, Kondo O,Imai K, Morio T, Ohara O, Ogi T, Furukawa F, Inoue M, Yoshiura K, Kanazawa N.
    • Journal Title

      Clin. Immunol.

      Volume: 160 Pages: 255-260

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293244
  • [Journal Article] Mutations in Bruton's tyrosine kinase impair IgA responses.2015

    • Author(s)
      Mitsuiki N, Yang X, S, Bartol SJ, Grosserichter-Wagener C, Kosaka Y, Takada H, Imai K, Kanegane H, Mizutani S, van der Burg M, van Zelm MC, Ohara O, Morio T.
    • Journal Title

      Int J Hematol.

      Volume: 101(3) Issue: 3 Pages: 305-13

    • DOI

      10.1007/s12185-015-1732-1

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293244, KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09655
  • [Journal Article] The Menin-Bach2 axis is critical for regulating CD4 T cell senescence and cytokine homeostasis2014

    • Author(s)
      Kuwahara, M., Suzuki, J., Tofukuji, S., Yamada, T., Kanoh, M., Matsumoto, A., Maruyama, S., Kometani, K., Kurosaki, T., Ohara, O., Nakayama, T., Yamashita, M
    • Journal Title

      Nature Comm

      Volume: 5 Issue: 1 Pages: 3555-3555

    • DOI

      10.1038/ncomms4555

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21229007, KAKENHI-PROJECT-23390075, KAKENHI-PROJECT-24659475, KAKENHI-PUBLICLY-25118718, KAKENHI-PROJECT-25670232, KAKENHI-PROJECT-25860376, KAKENHI-PROJECT-26221305, KAKENHI-PROJECT-26293069, KAKENHI-PROJECT-26460579
  • [Journal Article] Aicardi-Goutières syndrome is caused by IFIH1 mutations.2014

    • Author(s)
      Oda, H., Nakagawa, K., Abe, J., Awaya, T., Funabiki, M., Hijikata, A., Nishikomori, R., Funatsuka, M., Ohshima, Y., Sugawara, Y., Yasumi, T., Kato, H., Shirai, T., Ohara, O., Fujita, T., Heike, T.
    • Journal Title

      America Journal of Human Genetics

      Volume: 95 Issue: 1 Pages: 121-125

    • DOI

      10.1016/j.ajhg.2014.06.007

    • NAID

      120005460706

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-24115004, KAKENHI-PROJECT-24370046, KAKENHI-PROJECT-24390263, KAKENHI-PROJECT-25280109, KAKENHI-PROJECT-25670474
  • [Journal Article] A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.2014

    • Author(s)
      Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T.
    • Journal Title

      Rheumatology

      Volume: 53 Issue: 3 Pages: 448-458

    • DOI

      10.1093/rheumatology/ket372

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.2014

    • Author(s)
      Nakagawa K, Kawai T, Umebayashi H, Takei S, Kobayashi N, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI et al.
    • Journal Title

      Ann Rheum Dis.

      Volume: in press Issue: 3 Pages: 1-8

    • DOI

      10.1136/annrheumdis-2013-204361

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23249056, KAKENHI-PROJECT-24390263, KAKENHI-PROJECT-24590681, KAKENHI-PROJECT-25460838, KAKENHI-PROJECT-25461591, KAKENHI-PROJECT-26253062
  • [Journal Article] Real-time single-cell imaging of protein secretion2014

    • Author(s)
      Yamagishi, M. Suzuki, N. Izawa, K. Nakahara, A. Mizuno, J. Shoji, S. Heike, T. Harada, Y. Nishikomori, R. Ohara, O.
    • Journal Title

      Sci Rep

      Volume: 4 Issue: 1 Pages: 4736-4736

    • DOI

      10.1038/srep04736

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-24390263, KAKENHI-PROJECT-25440074, KAKENHI-PUBLICLY-26115708, KAKENHI-PROJECT-26286028
  • [Journal Article] Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.2013

    • Author(s)
      Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, Cañellas J, Takei S, Kobayashi N, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Ortiz E, Rius F, Anton J, Iglesias E, Jimenez-Treviño S, Vargas C, Fernandez-Martin J, Calvo I, Hernández-Rodríguez J, Mendez M, Dordal MT, Basagaña M, Bujan S, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI
    • Journal Title

      Ann Rheum Dis

    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] Rapid Detection of Intracellular p47phox and p67phox by Flow Cytometry; Useful Screening T ests for Chronic Granulomatous Disease2013

    • Author(s)
      Wada T, Muraoka M, T oma T, Imai T, Shigemura T, Agematsu K, Haraguchi K, Moriuchi H, Oh-Ishi T, Kitoh T, Ohara O, Morio T, Yachie A
    • Journal Title

      J Clin Immunol

      Volume: 33 Pages: 857-864

    • NAID

      120005253222

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390270
  • [Journal Article] A novel small compound SH-2251 suppresses Th2 cell-dependent airway inflammation through selective modulation of chromatin status at the Il5 gene locus2013

    • Author(s)
      Suzuki J, Kuwahara M, Tofukuji S, Imamura M, Kato F, Nakayama T, Ohara O, Yamashita M
    • Journal Title

      PLoS ONE

      Volume: 8 Issue: 4 Pages: e61785-e61785

    • DOI

      10.1371/journal.pone.0061785

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-25118718, KAKENHI-PROJECT-25670232
  • [Journal Article] Rapid Detection of Intracellular p47phox and p67phox by Flow Cytometry; Useful Screening Tests for Chronic Granulomatous Disease.2013

    • Author(s)
      Wada T
    • Journal Title

      J Clin Immunol.

      Volume: 33 Issue: 4 Pages: 857-864

    • DOI

      10.1007/s10875-012-9859-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22591155, KAKENHI-PROJECT-23390270, KAKENHI-PROJECT-24590713, KAKENHI-PROJECT-24591542, KAKENHI-PROJECT-25670472
  • [Journal Article] A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura2013

    • Author(s)
      Kawasaki Y, T oyoda H, Otsuki S, Iwasa T, Iwamoto S, Azuma E, Itoh-Habe N, Wada H, Fujimura Y, Mor io T, Imai K, Mistusiki N, Ohara O, Komada Y
    • Journal Title

      Eur J Haematol

      Volume: 290 Pages: 164-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390270
  • [Journal Article] Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension.2013

    • Author(s)
      Wakabayashi M
    • Journal Title

      Cell Rep.

      Volume: 28 Issue: 3 Pages: 858-868

    • DOI

      10.1016/j.celrep.2013.02.024

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20249047, KAKENHI-PROJECT-22249032, KAKENHI-PROJECT-22390168, KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-24659412, KAKENHI-PROJECT-24659413, KAKENHI-PROJECT-24790836, KAKENHI-PROJECT-25221306, KAKENHI-PROJECT-25670406
  • [Journal Article] A dual reporter splicing assay using HaloTag-containing proteins. Curr Chem Genomics.2012

    • Author(s)
      Oshima K, Nagase T, Imai K, Nonoyama S, Obara M, Mizukami T, Nunoi H, Kanegane H, Kuribayashi F, Amemiya S, Ohara O.
    • Journal Title

      Curr Chem Genomics.

      Volume: 6 Issue: 1 Pages: 27-37

    • DOI

      10.2174/1875397301206010027

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23591561, KAKENHI-PROJECT-24591563
  • [Journal Article] Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia2012

    • Author(s)
      Kuramitsu M, Sato-Otsubo A, Morio T, Takagi M, Toki T, Terui K, RuNan W, Kanno H, Ohga S, Ohara A, Kojima S, Kitoh T, Goi K, Kudo K, Matsubayashi T, Mizue N, Ozeki M, Masumi A, Momose H, Takizawa K, Mizukami T, Yamaguchi K, Ogawa S, Ito E
    • Journal Title

      Blood

      Volume: 119 Pages: 2376-84

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390270
  • [Journal Article] Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with> 99. 9% Statistical Confidence by Massively Parallel Sequencing2012

    • Author(s)
      Izawa, K., A. Hijikata, N. Tanaka, T. Kawai, M. K. Saito, R. Goldbach-Mansky, I. Aksentijevich, T. Yasumi, T. Nakahata, T. Heike, R. Nishikomori, and O. Ohara
    • Journal Title

      DNA Res

      Volume: 19 Issue: 2 Pages: 143-52

    • DOI

      10.1093/dnares/dsr047

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310, KAKENHI-PROJECT-22249042, KAKENHI-PROJECT-23657147, KAKENHI-PROJECT-24390263, KAKENHI-PROJECT-24659496
  • [Journal Article] Severe primary antibody deficiency due to a novel mutation of micro heavy chain2012

    • Author(s)
      Mohammadzadeh I, Yeganeh M, Aghamohammadi A, Parvaneh N, Behniafard N, Abolhassani H, Tabassomi F, Hemmat M, Kanegane H, Miyawaki T, Ohara O, Rezaei N
    • Journal Title

      J Investig Allergol Clin Immunol

      Volume: 22 Pages: 78-79

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, north India2012

    • Author(s)
      Suri D, Singh S, Rawat A, Gupta A, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Bilhou-Nabera C, Proust A, Ahluwalia J, Dogra S, Saikia B, Walker Minz R, Sehgal S
    • Journal Title

      Asian Pac J Allergy Immunol

      Volume: 30 Pages: 1-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura.2012

    • Author(s)
      Kawasaki Y, Toyoda H, Otsuki S, Iwasa T, Iwamoto S, Azuma E, Itoh-Habe N, Wada H, Fujimura Y, Morio T, Imai K, Mitsuiki N, Ohara O, Komada Y.
    • Journal Title

      Eur J Haematol.

      Volume: 90 Issue: 2 Pages: 164-168

    • DOI

      10.1111/ejh.12057

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-22591069, KAKENHI-PROJECT-23390270, KAKENHI-PROJECT-23591425, KAKENHI-PROJECT-23591561
  • [Journal Article] Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis2012

    • Author(s)
      Nakaoka H, Kanegane H, Taneichi H, Miya K, Yang X, Nomura K, Takezaki S, Yamada M, Ohara O, Kamae C, Imai K, Nonoyama S, Wada T, Yachie A, Hershfield MS, Ariga T, Miyawaki T
    • Journal Title

      Int J Hematol

      Volume: (in press)

    • NAID

      10030793746

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99. 9% statistical confidence by massively parallel sequencing2012

    • Author(s)
      Izawa K, Hijikata A, Tanaka N, Kawai T, Saito MK, Goldbach-Mansky R, Aksentijevich I, Yasumi T, Nakahata T, Heike T, Nishikomori R, Ohara O
    • Journal Title

      DNA Res

      Volume: 19 Pages: 143-152

    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.2012

    • Author(s)
      Nakaoka H, Kanegane H, Taneichi H, Miya K, Yang X, Nomura K, Takezaki S, Yamada M, Ohara O, Kamae C, Imai K, Nonoyama S, Wada T, Yachie A, Hershfield MS, Ariga T, Miyawaki T.
    • Journal Title

      Int J Hematol.

      Volume: 95 Issue: 6 Pages: 692-696

    • DOI

      10.1007/s12185-012-1055-4

    • NAID

      10030793746

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23591561, KAKENHI-PROJECT-24591542
  • [Journal Article] Quantification of s-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.2011

    • Author(s)
      Nakaeawa N, Imai K, Kanegane H, Sate H, Yamada M, Kondoh K, Okada S, Kobayashi M, Agematsu K, Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarstrom Q, Hammarstrom L, Reichenbach J, Seger R, Ariga T, Hara T, Miyawaki T, Nonovama_S.
    • Journal Title

      J Allergy Clin Immunol. Epub ahead of print.

    • Data Source
      KAKENHI-PROJECT-21791018
  • [Journal Article] SP600125 Inhibits Cap-dependent Translation Independently of the c-Jun N-terminal Kinase Pathway2011

    • Author(s)
      Masatoshi Ito, Hiroshi Kitamura, Chisato Kikuguchi, Koji Hase, Hiroshi Ohno, and Osamu Ohara
    • Journal Title

      Cell Struct. Funct.

      Volume: 36 Issue: 1 Pages: 27-33

    • DOI

      10.1247/csf.10025

    • NAID

      130004137561

    • ISSN
      0386-7196, 1347-3700
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21790334
  • [Journal Article] Novel mutations of MVK gene in Japanese family members affected with hyperimmunog lobulinemia D and periodic fever syndrome2011

    • Author(s)
      Mizuno, T., H. Sakai, R. Nishikomori, K. Oshima, O. Ohara, I. Hata, Y. Shigematsu, T. Ishige, K. Tamura, and H. Arakawa
    • Journal Title

      Rheumatol Int

      Volume: (in press) Issue: 12 Pages: 3761-3764

    • DOI

      10.1007/s00296-011-2225-z

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310, KAKENHI-PROJECT-23591561
  • [Journal Article] Rapid diagnosis of familial hemophagocytic lymphohistiocytosis type 3 (FHL3) by flow cytometric detection of intraplatelet Munc 13-4 protein.2011

    • Author(s)
      Murata Y., Yasumi T., Shirakawa R., Izawa K., Sakai H., Abe J., Tanaka N., Kawai T., Oshima K., Saito M., Nishikomori R., Ohara O.、Ishii E., Nakahata T., Horiuchi H., Heike T.
    • Journal Title

      Blood

      Volume: 118 Issue: 5 Pages: 1225-1230

    • DOI

      10.1182/blood-2011-01-329540

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249042, KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-22501009, KAKENHI-PROJECT-22591159, KAKENHI-PUBLICLY-23113702, KAKENHI-PUBLICLY-23121503
  • [Journal Article] Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell2011

    • Author(s)
      Nakagawa N,…, Takada H, et al
    • Journal Title

      J Allergy Clin Immunol

      Volume: 128 Issue: 1 Pages: 223-225

    • DOI

      10.1016/j.jaci.2011.01.052

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591363, KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23591561
  • [Journal Article] High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome2011

    • Author(s)
      Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Arostegui JI, Yague J, Merino R, Ibanez M, Pontillo A, Takada H, Imagawa T
    • Journal Title

      Arthritis Rheum

      Volume: 63 Issue: 11 Pages: 3625-32

    • DOI

      10.1002/art.30512

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390310, KAKENHI-PROJECT-21591363, KAKENHI-PUBLICLY-22021049, KAKENHI-PROJECT-22249042, KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-23249056
  • [Journal Article] Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome2011

    • Author(s)
      Mizuno T, Sakai H, Nishikomori R, Oshima K, Ohara O, Hata I, Shigematsu Y, Ishige T, Tamura K, Arakawa H
    • Journal Title

      Rheumatol Interest

      Volume: (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Mammalian polycomb-like Pcl2/Mtf2 is a novel regulatory component of PRC2 that can differentially modulate polycomb activity both at the Hox gene cluster and at Cdkn2a genes2011

    • Author(s)
      Xiangzhi Li, Kyo-ichi Isono, Daisuke Yamada, Takaho A. Endo, Mitsuhiro Endoh, Jun Shinga, Yoko Mizutani-Koseki, Arie P. Otte, Miguel Casanova, Hiroshi Kitamura, Takehiko Kamijo, Jafar Sharif, Osamu Ohara, Tetsuro Toyada, Bradley E. Bernstein, Neil Brockdorff, and Haruhiko Koseki
    • Journal Title

      Mol. Cell. Biol

      Volume: 31(2) Issue: 2 Pages: 351-364

    • DOI

      10.1128/mcb.00259-10

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21790334, KAKENHI-PUBLICLY-22116513
  • [Journal Article] High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome2011

    • Author(s)
      Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T
    • Journal Title

      International Multicenter Collaborative Study

      Volume: 63 Pages: 3625-3632

    • Data Source
      KAKENHI-PROJECT-23249056
  • [Journal Article] ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability2011

    • Author(s)
      Okura Y, Yamada M, Kobayashi I, Santisteban I, Arredondo-Santisteban G, Kato Z, Iguchi A, Yoshida M, Ohara O, Nakagawa N, Imai K, Hershfield MS, Ariga T
    • Journal Title

      Br J Haematol

      Volume: 153(5) Issue: 5 Pages: 675-6

    • DOI

      10.1111/j.1365-2141.2011.08640.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213, KAKENHI-PROJECT-22591156
  • [Journal Article] Analysis of mutations and recombination activity in RAG-deficient patients2011

    • Author(s)
      Asai E, Wada T, Sakakibara Y, Toga A, Toma T, Shimizu T, Nampoothiri S, Imai K, Nonoyama S, Morio T, Muramatsu H, Kamachi Y, Ohara O, Yachie A
    • Journal Title

      Clin Immunol

      Volume: 138 Issue: 2 Pages: 172-7

    • DOI

      10.1016/j.clim.2010.11.005

    • NAID

      120002772030

    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan2011

    • Author(s)
      Hoshina T, Takada H, Sasaki-Mihara Y, Kusuhara K, Oshima K, Okada S, Kobayashi M, Ohara O, Hara T
    • Journal Title

      J Clin Immunol

      Volume: 31 Pages: 309-314

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Journal Article] Quantification of K-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.2011

    • Author(s)
      Nakagawa N, Imai K, Kanegane H, Sato H, Yamada M, Kondoh K, Okada S, Kobayashi M, Agematsu K, Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarstrom Q, Hammarstrom L, Reichenbach J, Seger R, Ariga T, Hara T, Miyawaki T, Nonoyama S.
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: (未定)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21791018
  • [Journal Article] Analysis of mutations and recombination activity in RAG-deficient patient2011

    • Author(s)
      Asai E., Wada T., Sakakibara Y., Toga A., Toma T., Shimizu T., Imai K., Nonoyama S., Morio T., Kamachi Y., Ohara O., Yachie A.
    • Journal Title

      Clin.Immunol.

      Volume: 138 Pages: 172-7

    • NAID

      120002772030

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390270
  • [Journal Article] A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.2010

    • Author(s)
      Oshima K, Yamazaki K, Nakaiima Y, Kobayashi A, Kate T, Ohara O, Agematsu K.
    • Journal Title

      Mod Rheumatol. 20

      Pages: 193-195

    • NAID

      10027169046

    • Data Source
      KAKENHI-PROJECT-21791018
  • [Journal Article] A set of genes associated with the interferon-γ response of lung cancer patients undergoing α-galactosylceramide-pulsed dendritic cell therapy2010

    • Author(s)
      Okita, K., Motohashi, S., Shinnakasu, R., Nagato, K., Yamasaki, K., Sato, Y., Kitamura, H., Hijikata, A., Yamashita, M., Shimizu, K., Fujii, S., Ohara, O., Taniguchi, M., Sakaida, I., Nakayama, T
    • Journal Title

      Cancer Sci

      Volume: 101(11) Issue: 11 Pages: 2333-2340

    • DOI

      10.1111/j.1349-7006.2010.01696.x

    • NAID

      10027833301

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591808, KAKENHI-PROJECT-21790334
  • [Journal Article] Characterization of multiple alternative forms of heterogeneous nuclear ribonucleoprotein K by phosphate-affinity electrophoresis2010

    • Author(s)
      Yayoi Kimura, Kayoko Nagata, Nobutake Suzuki, Ryo Yokoyama, Yuko Yamanaka, Hiroshi Kitamura, Hisashi Hirano, Osamu Ohara
    • Journal Title

      Proteomics

      Volume: 10(21) Issue: 21 Pages: 3884-3895

    • DOI

      10.1002/pmic.201000349

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21790334
  • [Journal Article] A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan2010

    • Author(s)
      Oshima K, Yamazaki K, Nakajima Y, Kobayashi A, Kato T, Ohara O, Agematsu K
    • Journal Title

      Modern Rheumatology

      Volume: 20 Pages: 193-195

    • NAID

      10027169046

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21791018
  • [Journal Article]2010

    • Author(s)
      Yoriko Saito*, Hiroshi Kitamura*, Atsushi Hijikata, Mariko Tomizawa-Murasawa, Satoshi Tanaka, Shinsuke Takagi, Naoyuki Uchida, Nahoko Suzuki, Akiko Sone, Yuho Najima, Hidetoshi Ozawa, Atsushi Wake, Shuichi Taniguchi, Leonard D Shultz, Osamu Ohara, Fumihiko Ishikawa
    • Journal Title

      Sci. Transl. Med.

      Volume: 2(17) Issue: 17 Pages: 17-9

    • DOI

      10.1126/scitranslmed.3000349

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21790334
  • [Journal Article] Naturally occurring regulatory dendritic cells regulate murine cutaneous graft-versus-host disease2009

    • Author(s)
      Kaori Sato, Kawori Eizumi, Tomohiro Fukaya, Shigeharu Fujita, Yumiko Sato, Hideaki Takagi, Mai Yamamoto, Naohide Yamashita, Atsushi Hijikata, Hiroshi Kitamura, Osamu Ohara, Sho Yamasaki, Takashi Saito, Katsuaki Sato
    • Journal Title

      Blood

      Volume: 113(19) Issue: 19 Pages: 4780-4789

    • DOI

      10.1182/blood-2008-10-183145

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21790334
  • [Journal Article] Deficiency of the oxidative damage-specific DNA glycosylase NAIL1 leads to reduced germinal center B cell expansion2009

    • Author(s)
      Hiromi Mori, Rika Ouchida, Atsushi Hijikata, Hiroshi Kitamura, Osamu Ohara, Yingqian Li, Xiang Gao, Akira Yasui, R. Stephan Lloyd, Ji-Yang Wang
    • Journal Title

      DNA Repair(Amst)

      Volume: 8(11) Issue: 11 Pages: 1328-1332

    • DOI

      10.1016/j.dnarep.2009.08.007

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21790334
  • [Journal Article] Mina an Il4 repressor, controls T helper type 2 bias2009

    • Author(s)
      Mariko Okamoto, Melanie Van Stry, Linda Chung, Madoka Koyanagi, Xizhang Sun, Yoshie Suzuki, Osamu Ohara, Hiroshi Kitamura, Atsushi Hijikata, Masato Kubo, Mark Bix
    • Journal Title

      Nat. Immunol.

      Volume: 10(8) Issue: 8 Pages: 872-879

    • DOI

      10.1038/ni.1747

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21790334
  • [Journal Article] Dentification of a novel subset of CD8+dendritic cells responsible for tolerance induction of cell-associated antigens2009

    • Author(s)
      Chun-Hong Qin, Yasunobu Miyake, Hitomi Kaise, Hiroshi Kitamura, Osamu Ohara, Masato Tanaka
    • Journal Title

      J. Immunol.

      Volume: 182(7) Issue: 7 Pages: 4127-4136

    • DOI

      10.4049/jimmunol.0803364

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21790334
  • [Patent] Leukemia Stem Cell Markers2011

    • Inventor(s)
      石川文彦、小原收、齊藤頼子、北村浩、土方敦司、小澤秀俊
    • Industrial Property Rights Holder
      理化学研究所
    • Acquisition Date
      2011-04-11
    • Overseas
    • Data Source
      KAKENHI-PROJECT-21790334
  • [Presentation] 慢性活動性EBウイルス感染症におけるAPOBEC3Bの発現亢進2017

    • Author(s)
      廿楽明穂、今留謙一、大内史彦、柴山春奈、小原収、今井耕輔、松田剛、小野澤枝里香、吉森真由美、小山高敏、三浦修、新井文子
    • Organizer
      第79回日本血液学会総会
    • Data Source
      KAKENHI-PROJECT-15K09468
  • [Presentation] PFAPAの臨床像で発症し、長期経過後に腸管炎症、陰部潰瘍を合併したため診断に至った孤発性のTNFA1P3異常症の1例2016

    • Author(s)
      本田吉孝, 河合朋樹, 西小森隆太, 八角高裕, 井澤和司, 日衛嶋栄太郎, 中川権史, 柴田洋史, 下寺佐栄子, 大音泰介, 芝剛, 仁平寛士, 小田紘嗣, 小原收, 平家俊男
    • Organizer
      小児リウマチ学会
    • Place of Presentation
      千葉
    • Year and Date
      2016-10-21
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Presentation] Immunogram for Cancer-Immunity Cycle towards Personalized Immunotherapy of Lung Cancer2016

    • Author(s)
      Takahiro Karasaki, Kazuhiro Nagayama, Hideki Kuwano, Jun-ichi Nitadori, Masaaki Sato, Masaki Anraku, Akihiro Hosoi, Hirokazu Matsushita, Yasuyuki Morishita, Kosuke Kashiwabara, Masaki Takazawa, Osamu Ohara, Kazuhiro Kakimi, Jun Nakajima
    • Organizer
      IASLC 17th World Conference on Lung Cancer
    • Place of Presentation
      Messe Wien Exhibition & Congress Center
    • Year and Date
      2016-12-07
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04942
  • [Presentation] Common variable immunodeficiency caused by FANC mutations.2016

    • Author(s)
      Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, and Shigeaki Nonoyama.
    • Organizer
      .17th Biennial Meeting of European Society for Immunodeficiencie.
    • Place of Presentation
      Barcelona, Spain
    • Year and Date
      2016-09-21
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09468
  • [Presentation] 家族性血球貪食症候群(FHL)3型における迅速診断系・機能解析系の確立2016

    • Author(s)
      柴田洋史、八角高裕、日衛嶋栄太郎、中川権二、井澤和司、河合朋樹、小原收、平家俊男
    • Organizer
      第44回日本臨床免疫学会総会
    • Place of Presentation
      京王プラザホテル
    • Year and Date
      2016-09-08
    • Data Source
      KAKENHI-PROJECT-26461582
  • [Presentation] In silico prediction of neoantigen for lung cancer targeting shared somatic mutations2015

    • Author(s)
      唐崎 隆弘、長山 和弘、宮井 まなみ、松下 博和、喜久川 真悟、的場 亮、ポール・ホートン、小原 收、垣見 和宏、中島 淳
    • Organizer
      第19回日本がん免疫学会総会
    • Place of Presentation
      伊藤国際学術研究センター(東京都文京区)
    • Year and Date
      2015-07-09
    • Data Source
      KAKENHI-PROJECT-15H04942
  • [Presentation] 本邦でのメバロン酸キナーゼ欠損症のまとめ2015

    • Author(s)
      田中孝之, 吉岡耕平, 酒井秀政, 西小森隆太, 阿部純也, 日衛嶋栄太郎, 小原收, 河合朋樹, 八角高裕, 平家俊男
    • Organizer
      日本小児リウマチ学会総会
    • Place of Presentation
      金沢
    • Year and Date
      2015-10-09
    • Data Source
      KAKENHI-PROJECT-15H04876
  • [Presentation] Aicardi-Goutieres syndrome is caused by IFIH1 mutations2014

    • Author(s)
      Oda, H. Nakagawa, K. Abe, J. Awaya, T. Funabiki, M. Hijikata, A. Nishikomori, R. Funatsuka, M. Ohshima, Y. Sugawara, Y. Yasumi, T. Kato, H. Shirai, T. Ohara, O. Fujita, T. Heike, T.
    • Organizer
      American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Year and Date
      2014-10-09
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Presentation] エクソンスキップに伴い非典型的な表現型を呈したFilamin A異常症の兄弟例2014

    • Author(s)
      小田紘嗣 河合朋樹 中川権史 日衛嶋栄太郎 井澤和司 西小森隆太 小原收 沼部博直 平家俊男
    • Organizer
      日本小児科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-04-12
    • Data Source
      KAKENHI-PROJECT-26860796
  • [Presentation] Aicardi-Goutieres syndrome is caused by IFIH1 mutations2014

    • Author(s)
      Oda, H. Nakagawa, K. Abe, J. Awaya, T. Funabiki, M. Hijikata, A. Nishikomori, R. Funatsuka, M. Ohshima, Y. Sugawara, Y. Yasumi, T. Kato, H. Shirai, T. Ohara, O. Fujita, T. Heike, T.
    • Organizer
      Ameriacan Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Year and Date
      2014-10-19
    • Data Source
      KAKENHI-PROJECT-25670474
  • [Presentation] Muckle-Wells症候群におけるNLRP3体細胞モザイク変異の検討2013

    • Author(s)
      中川権史、西小森隆太、井澤和司、河合朋樹、八角高裕、河合利尚、梅林宏明、武井修治、小林法元、小原收、Eva Gonzalez-Roca、Juan I. Arostegui、平家俊男
    • Organizer
      第23回日本小児リウマチ学会総会
    • Place of Presentation
      大宮
    • Data Source
      KAKENHI-PROJECT-24390263
  • [Presentation] Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC).2012

    • Author(s)
      Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, MC van Zelm, Morio T, Imai K, Nonoyama S.
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy.
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN2012

    • Author(s)
      Honma K, Imai K, Kamae C, Ishida H, Ito Y, Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y, Ohara O, Nonoyama S
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC)2012

    • Author(s)
      Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarstrom Q, MC van Zelm, Morio T, Imai K, Nonoyama S
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] 次世代シークエンサーにより、原因遺伝子の同定に至ったCVIDの1例2012

    • Author(s)
      釜江智佳子、満生紀子、小原明、野口恵美子、久保田健夫、本間健一、小原收、今井耕輔、野々山恵章
    • Organizer
      第3回関東甲越免疫不全症研究会
    • Place of Presentation
      東京
    • Year and Date
      2012-09-22
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN.2012

    • Author(s)
      Honma K, Imai K, Kamae C, Ishida H, Ito Y, Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y, Ohara O, Nonoyama S.
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy.
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] Genetic analysis for 207 cases with primary immunodeficiency (PID) consulted to a single center through PID network in Japan (PIDJ) in 5 years (2007-2011)2012

    • Author(s)
      Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T, Mizutani S
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] Genetic analysis for 207 cases with primary immunodeficiency (PID) consulted to a single center through PID network in Japan (PIDJ) in 5 years (2007-2011).2012

    • Author(s)
      Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T, Mizutani S.
    • Organizer
      15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
    • Place of Presentation
      Florence, Italy.
    • Data Source
      KAKENHI-PROJECT-22390213
  • [Presentation] Diagnosis of nlrp3 somatic mosaicism incinca/nomid patients using next-generation sequencing : Poster Session, Board P292 : 18thEuropean Pediatric Rheumatology Congress2011

    • Author(s)
      K. Izawa, A. Hijikata, R. Nishikomori, O. Ohara, J. Abe, N. Tanaka, M. K. Saito, R. Goldbach-Mansky, I. Aksentijevich, T. Kawai, T. Yasumi, T. Nakahata, T. Heike
    • Organizer
      September
    • Place of Presentation
      Bruges, Belgium
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] Rapid detection ofNLRP3 somatic mosaicism using next-generation sequencing2011

    • Author(s)
      井澤和司、西小森隆太、八角高裕、平家俊男、土方敦司、小原收
    • Organizer
      第56回日本人類遺伝学会・第11回東アジア人類遺伝学会共同大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] NLRP3体細胞モザイクはCINCA症候群の25%以上に認められる2011

    • Author(s)
      田中尚子、井澤和司、斎藤潤、作間未織、大嶋宏一、小原収、西小森隆太、森本剛、中畑龍俊、平家俊男
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21390310
  • [Presentation] マクロファージの新たな機能制御分子による2型糖尿病関連分子の発現調節2011

    • Author(s)
      北村浩、伊藤誠敏、木村俊介、嶋本良則、小林敦夫、菊口千智、岡部潤、渡会浩志、小原收、三好一郎
    • Organizer
      第152回日本獣医学会学術集会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-21790334
  • [Presentation] エクソンスキッピングに伴い非典型的な表現型を呈したFilaminA異常症の兄弟例

    • Author(s)
      小田紘嗣、河合朋樹、中川権史、日衛嶋栄太郎、井澤和司、西小森隆太、小原收、沼部博直、平家俊男
    • Organizer
      第117回日本小児科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-04-11 – 2014-04-13
    • Data Source
      KAKENHI-PROJECT-24390263
  • 1.  NISHIKOMORI Ryuta (70359800)
    # of Collaborated Projects: 8 results
    # of Collaborated Products: 25 results
  • 2.  HEIKE Toshio (90190173)
    # of Collaborated Projects: 6 results
    # of Collaborated Products: 22 results
  • 3.  YASUMI Takahiro (00511891)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 13 results
  • 4.  OKADA Satoshi (80457241)
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    # of Collaborated Products: 8 results
  • 5.  SAITO Megumu (90535486)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 3 results
  • 6.  TSUMURA Miyuki (80646274)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 7 results
  • 7.  KAMBE Naotomo (50335254)
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    # of Collaborated Products: 1 results
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    # of Collaborated Products: 11 results
  • 11.  NONOYAMA Shigeaki (40280961)
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    # of Collaborated Products: 11 results
  • 12.  IMAI Kohsuke (90332626)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 16 results
  • 13.  MORIO Tomohiro (30239628)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 9 results
  • 14.  TOGUCHIDA Junya (40273502)
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    # of Collaborated Products: 0 results
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    # of Collaborated Products: 1 results
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    # of Collaborated Products: 3 results
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    # of Collaborated Products: 4 results
  • 18.  SHIMODERA Saeko
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 2 results
  • 19.  KITAMURA Hiroshi (80312403)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 8 results
  • 20.  ISHIKAWA Fumihiko (30403918)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 21.  NAKAHATA Tatsutoshi (20110744)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 22.  KAMATA Noriaki (00334186)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
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    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
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    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 25.  IZAWA Kazushi (90634931)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
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    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 27.  KAJI Tomohiro (70370963)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 28.  HIKITA Masaki (60228715)
    # of Collaborated Projects: 1 results
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    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 30.  Nakajima Jun (90188954)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
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    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
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    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
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    # of Collaborated Products: 2 results
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    # of Collaborated Products: 2 results
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    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
  • 40.  垣見 和宏 (80273358)
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    # of Collaborated Products: 6 results
  • 41.  松下 博和 (80597782)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 6 results
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    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 43.  今留 謙一 (70392488)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 44.  川島 祐介 (30588124)
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  • 45.  森崎 裕子 (40311451)
    # of Collaborated Projects: 1 results
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  • 46.  藤木 亮次 (40534516)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 47.  森下 英理子 (50251921)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 48.  荒磯 裕平 (20753726)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
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    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 50.  坂田 園子 (50897907)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 51.  溝口 洋子 (30750533)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 52.  HOSHINO Akihiro
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 53.  HORI Masayuki
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 54.  SHIBATA Hirofumi
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 55.  TANAKA Takayuki
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 56.  NAKAGAWA Kenji
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 57.  HONDA Yoshitaka
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 58.  OHTO Taisuke
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 59.  MOTOHASHI Shinichiro
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 60.  Chiba Shigeru
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 61.  戸田口 淳也
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 62.  黒崎 知博
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 63.  金澤 伸雄
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 64.  高田 英俊
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 65.  瀧本 智仁
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 66.  玉浦 萌
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 67.  小川 誠司
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 68.  江藤 正俊
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 69.  安楽 真樹
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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