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Responsible genes and molecular pathogenesis of inherited thrombocytopenia with small or normal-sized platelets

Research Project

Project/Area Number 26461562
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

SASAHARA Yoji  東北大学, 医学系研究科, 准教授 (60372314)

Project Period (FY) 2014-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords遺伝子 / シグナル伝達 / 血液学 / トランスレーショナルリサーチ
Outline of Final Research Achievements

Thrombocytopenia in childhood includes inherited thrombocytopenia caused by gene mutations, in addition to non-inherited immune thrombocytopenia. Based on my basic research for Wiskott-Aldrich syndrome, I established rapid mutation analysis system for known responsible genes for inherited thrombocytopenia with small or normal-sized platelets. I also identified novel responsible gene, MECOM gene, for newly identified disease entity in three patients by exome analysis, and reported as an article worldwide. In addition, I reported the results of gene analysis to the doctors and contributed to clinical rapid diagnosis and concise management for patients with inherited thrombocytopenia with small or normal-sized platelets.

Report

(5 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • 2014 Research-status Report
  • Research Products

    (27 results)

All 2017 2016 2015 2014

All Journal Article (15 results) (of which Peer Reviewed: 6 results,  Open Access: 6 results,  Acknowledgement Compliant: 5 results) Presentation (12 results) (of which Int'l Joint Research: 1 results,  Invited: 8 results)

  • [Journal Article] 総説:単一血球減少と小児がんを合併する原発性免疫不全症2017

    • Author(s)
      笹原洋二
    • Journal Title

      日本小児血液・がん学会雑誌

      Volume: 54(2) Pages: 101-105

    • Related Report
      2017 Annual Research Report
  • [Journal Article] TAR症候群(thrombocytopenia with absent radius症候群)2016

    • Author(s)
      笹原洋二
    • Journal Title

      小児科診療

      Volume: 79 Pages: 191-191

    • Related Report
      2016 Research-status Report
  • [Journal Article] 遺伝性血小板減少症2016

    • Author(s)
      笹原洋二
    • Journal Title

      小児内科

      Volume: 48 Pages: 1026-1031

    • Related Report
      2016 Research-status Report
  • [Journal Article] Wiskott-Aldrich症候群の分子病態に関する研究2016

    • Author(s)
      笹原洋二
    • Journal Title

      東北医学雑誌

      Volume: 128 Pages: 52-53

    • Related Report
      2016 Research-status Report
  • [Journal Article] The WASP-WIP complex in the molecular pathogenesis of Wiskott-Aldrich syndrome.2016

    • Author(s)
      Sasahara Y.
    • Journal Title

      Pediatr. Int.

      Volume: 58(1) Issue: 1 Pages: 4-7

    • DOI

      10.1111/ped.12819

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Wiskott-Aldrich症候群2016

    • Author(s)
      笹原洋二
    • Journal Title

      日本臨牀 免疫症候群Ⅲ 第2版

      Volume: 36 Pages: 179-182

    • Related Report
      2015 Research-status Report
  • [Journal Article] WIP欠損症2016

    • Author(s)
      笹原洋二
    • Journal Title

      日本臨牀 免疫症候群Ⅲ 第2版

      Volume: 36 Pages: 183-186

    • Related Report
      2015 Research-status Report
  • [Journal Article] Analyses of genetic and clinical parameters for screening patients with inherited thrombocytopenia with small or normal-sized platelets.2015

    • Author(s)
      Ouchi-Uchiyama M, Sasahara Y, Kikuchi A, Goi K, Nakane T, Ikeno M, Noguchi Y, Uike N, Miyajima Y, Matsubara K, Koh K, Sugita K, Imaizumi M, Kure S.
    • Journal Title

      Pediatr. Blood & Cancer

      Volume: 62(12) Issue: 12 Pages: 2082-2088

    • DOI

      10.1002/pbc.25668

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.2015

    • Author(s)
      Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y.
    • Journal Title

      Am J Hum Genet.

      Volume: 97 Issue: 6 Pages: 848-854

    • DOI

      10.1016/j.ajhg.2015.10.010

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Wiskott-Aldrich症候群2015

    • Author(s)
      笹原洋二
    • Journal Title

      小児内科 小児疾患診療のための病態生理2 改訂第5版

      Volume: 47 Pages: 686-690

    • Related Report
      2015 Research-status Report
  • [Journal Article] 総説:ITPと鑑別が必要な小型・正常大の血小板を有する遺伝性血小板減少症2015

    • Author(s)
      笹原洋二
    • Journal Title

      日本小児血液・がん学会雑誌

      Volume: 52(3) Pages: 311-316

    • Related Report
      2015 Research-status Report
  • [Journal Article] The open conformation of WASP regulates its nuclear localization and gene transcription in myeloid cells.2014

    • Author(s)
      2.Looi CY, Sasahara Y, Watanabe Y, Sato M, Hakozaki I, Uchiyama M, Wong WF, Uchiyama T, Kumaki S, Tsuchiya S, Kure S
    • Journal Title

      International Immnology

      Volume: 26 Issue: 6 Pages: 341-352

    • DOI

      10.1093/intimm/dxt072

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Binding of WASP/N-WASP interacting protein WIP to actin regulates focal adhesion assembly and adhesion.2014

    • Author(s)
      Ramesh N, Massaad MJ, Kumar L, Suresh K, Sasahara Y, Anton I, Bhasin M, Libermann T, Geha RS.
    • Journal Title

      Mol. Cell. Biol.

      Volume: 34(14) Pages: 2600-2610

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.2014

    • Author(s)
      Izumi R, Niihori T, Suzuki N, Sasahara Y, Nishiyama A, Nishiyama S, Endo K, Kato M, Warita H, Konno H, Tateyama M, Nagashima T, Funayama R, Nakayama K, Kure S, Matsubara Y, Aoki Y, Aoki M.
    • Journal Title

      Neuromuscul. Disord.

      Volume: 24(12) Issue: 12 Pages: 1068-1072

    • DOI

      10.1016/j.nmd.2014.07.008

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] 総説 先天性血小板減少症の診断と分子病態2014

    • Author(s)
      笹原洋二
    • Journal Title

      小児科

      Volume: 55(1) Pages: 105-114

    • Related Report
      2014 Research-status Report
  • [Presentation] 原発性免疫不全症におけるゲノム医療の新展開2017

    • Author(s)
      笹原洋二
    • Organizer
      第79回日本血液学会学術集会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] 特発性血小板減少性紫斑病を合併し血清TARC値が低値であったアトピー性皮膚炎の1例2017

    • Author(s)
      小澤麻紀、笹原洋二、相場節也
    • Organizer
      第116回日本皮膚科学会総会
    • Place of Presentation
      仙台市、仙台国際センター
    • Related Report
      2016 Research-status Report
  • [Presentation] ITPと鑑別が必要な原発性免疫不全症と遺伝性血小板減少症2016

    • Author(s)
      笹原洋二
    • Organizer
      第1回道北免疫不全症講演会
    • Place of Presentation
      旭川市、旭川グランドホテル
    • Related Report
      2016 Research-status Report
    • Invited
  • [Presentation] 当科で診断した遺伝性血小板減少症とその分子病態2016

    • Author(s)
      笹原洋二
    • Organizer
      第9回東北小児血液疾患研究会
    • Place of Presentation
      仙台市、江陽グランドホテル
    • Related Report
      2016 Research-status Report
  • [Presentation] 単一血球減少と免疫不全症2016

    • Author(s)
      笹原洋二
    • Organizer
      第58回日本小児血液・がん学会学術集会
    • Place of Presentation
      品川区、品川プリンスホテル
    • Related Report
      2016 Research-status Report
    • Invited
  • [Presentation] Plenary session: 小型・正常大の血小板を有する先天性血小板減少症の臨床的および遺伝学的解析2015

    • Author(s)
      笹原洋二、内山芽里、今泉益栄、呉繁夫
    • Organizer
      第57回日本小児血液・がん学会学術集会
    • Place of Presentation
      甲府富士屋ホテル、甲府市、山梨県
    • Year and Date
      2015-11-28
    • Related Report
      2015 Research-status Report
  • [Presentation] 招待講演: ITPと鑑別が必要な小型・正常大の血小板を有する先天性血小板減少症2015

    • Author(s)
      笹原洋二
    • Organizer
      第23回日本小児ITP研究会
    • Place of Presentation
      甲府富士屋ホテル、甲府市、山梨県
    • Year and Date
      2015-11-27
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] Invited lecture: Hematopoietic stem cell transplantation for primary immunodeficiency and inborn errors of metabolism: a Japanese multicenter study.2015

    • Author(s)
      Sasahara Y
    • Organizer
      The Pediatric Hematology and Oncology Precision Therapy Forum
    • Place of Presentation
      復旦大学、上海市、中華人民共和国
    • Year and Date
      2015-11-06
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] 特別講演: ITPと鑑別が必要な先天性血小板減少症・免疫不全症2015

    • Author(s)
      笹原洋二
    • Organizer
      第1回山形血液研究会
    • Place of Presentation
      ホテルメトロポリタン山形、山形市、山形県
    • Year and Date
      2015-09-25
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] ITPと鑑別が必要な先天性血小板減少症・免疫不全症2015

    • Author(s)
      笹原洋二
    • Organizer
      第15回若葉小児科臨床研究会
    • Place of Presentation
      生田会館(神戸)
    • Year and Date
      2015-02-21
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] ITPと鑑別が必要な血小板疾患2014

    • Author(s)
      笹原洋二
    • Organizer
      第56回日本小児血液がん学会学術集会
    • Place of Presentation
      岡山コンベンションセンター(岡山)
    • Year and Date
      2014-11-28 – 2014-11-30
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] T cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation in T cells.2014

    • Author(s)
      Sasahara Y, Watanabe Y, Kure S, Massaad MJ, Ramesh N, Geha RS.
    • Organizer
      6th Biennial Meeting of the European Society for Immunodeficiencies
    • Place of Presentation
      プラハコングレスセンター(プラハ)
    • Year and Date
      2014-10-29 – 2014-11-01
    • Related Report
      2014 Research-status Report

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Published: 2014-04-04   Modified: 2019-03-29  

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