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Molecular pathogenesis of beta1 tubulin disorders

Research Project

Project/Area Number 26461413
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Hematology
Research InstitutionNational Hospital Organization Nagoya Medical Center

Principal Investigator

Kunishima Shinji  独立行政法人国立病院機構(名古屋医療センター臨床研究センター), その他部局等, 室長 (60373495)

Project Period (FY) 2014-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Keywords巨核球 / 血小板 / 微小管 / チューブリン / 先天性血小板減少症
Outline of Final Research Achievements

TUBB1/Tubb1 mutations identified in congenital macrothrombocytopenia of human, dog and big cats were functionally analyzed and classified in 1) abnormal oligomeric aggregation and the disruption of microtubule structure, 2) expression-level dependent abnormal microtubule structure and 3) normal microtubule structure (functional polymorphisms). The former type of mutation resulted in the decreased expression ofα tubulin and G1 arrest leading to the inhibition of cellular proliferation.

Report

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

    (36 results)

All 2017 2016 2015 2014 Other

All Int'l Joint Research (2 results) Journal Article (12 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 12 results,  Open Access: 3 results,  Acknowledgement Compliant: 6 results) Presentation (13 results) (of which Int'l Joint Research: 2 results,  Invited: 5 results) Book (6 results) Remarks (3 results)

  • [Int'l Joint Research] CRBM-CNRS(フランス)

    • Related Report
      2016 Annual Research Report
  • [Int'l Joint Research] Auburn University(米国)

    • Related Report
      2015 Research-status Report
  • [Journal Article] Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia2017

    • Author(s)
      Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne CE, Astle W, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Rougley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD, NIHR BioResources, Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E
    • Journal Title

      Blood

      Volume: 129 Issue: 4 Pages: 520-4

    • DOI

      10.1182/blood-2016-08-732248

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia2016

    • Author(s)
      Kitamura K, Okuno Y, Yoshida K, Sanada M, Shiraishi Y, Muramatsu H, Kobayashi R, Furukawa K, Miyano S, Kojima S, Ogawa S, Kunishima S
    • Journal Title

      J Thromb Haemost

      Volume: 14 Issue: 7 Pages: 1462-9

    • DOI

      10.1111/jth.13350

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed
  • [Journal Article] ACTN1 rod domain mutation associated with congenital macrothrombocytopenia.2016

    • Author(s)
      Yasutomi M, Kunishima S, Okazaki S, Tanizawa A, Tsuchida S, Ohshima Y.
    • Journal Title

      Ann Hematol

      Volume: 95 Issue: 1 Pages: 141-4

    • DOI

      10.1007/s00277-015-2517-6

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Diagnostic biomarker for ACTN1 macrothrombocytopenia.2016

    • Author(s)
      Kunishima S, Kitamura K, Yasutomi M, Kobayashi R.
    • Journal Title

      Blood

      Volume: 126 Issue: 22 Pages: 2525-6

    • DOI

      10.1182/blood-2015-08-666180

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Linkage between the mechanisms of thrombocytopenia and thrombopoiesis.2016

    • Author(s)
      Eto K, Kunishima S.
    • Journal Title

      Blood

      Volume: 127 Issue: 10 Pages: 1234-41

    • DOI

      10.1182/blood-2015-07-607903

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] IL-1 alpha induces rapid enhanced platelet biogenesis through rupture of Running title: Rupture thrombopoiesis regulated by IL-1alpha murine bone marrow megakaryocytes2015

    • Author(s)
      Satoshi Nishimura, Mika Nagasaki, Shinji Kunishima, Asuka Sakata, Hiroyasu Sakaguchi, Naoya Takayama, Issei Komuro, Joe Italiano Jr., Tomiko Ryu, Tsukasa Ohmori, Takashi Kadowaki, Koji Eto, Ryozo Nagai
    • Journal Title

      Journal of cell biology

      Volume: 未 Issue: 3 Pages: 453-66

    • DOI

      10.1083/jcb.201410052

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Genotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder: Report of a Japanese Pedigree.2015

    • Author(s)
      Okano S, Takase M, Iseki K, Toriumi N, Kaneda M, Kunishima S.
    • Journal Title

      J Pediatr Hematol Oncol

      Volume: 37 Issue: 6 Pages: e352-e355

    • DOI

      10.1097/mph.0000000000000379

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization2015

    • Author(s)
      Bottega R, Marconi C, Faleschini M, Baj G, Cagioni C, Pecci A, Pippucci T, Ramenghi, U, Pardini S, Ngu L, Baronci C, Kunishima S, Balduini CL, Seri M, Savoia A, Noris P
    • Journal Title

      Blood

      Volume: 125 Issue: 5 Pages: 869-872

    • DOI

      10.1182/blood-2014-08-594531

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] The first two cases of MYH9 disorders in Thailand: an international collaborative study2015

    • Author(s)
      Sirachainan N, Komwilaisak P, Kitamura K, Hongeng S, Sekine T, Kunishima S
    • Journal Title

      Ann Hematol

      Volume: 94 Issue: 4 Pages: 707-709

    • DOI

      10.1007/s00277-014-2234-6

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Somatic mosaicism in MYH9 disorders : the need to carefully evaluate apparently healthy parents2014

    • Author(s)
      Kunishima S, Kitamura K, Matsumo T, Sekine T, Saito H
    • Journal Title

      British Journal of Haematology

      Volume: 165 Issue: 6 Pages: 885-887

    • DOI

      10.1111/bjh.12797

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] Platelet diameters in inherited thrombocytopenias: Analysis of 376 patients with all known disorders2014

    • Author(s)
      Noris P, Biino G, Pecci A, Civaschi E, Savoia A, Seri M, Melazzini F, Loffredo G, Russo G, Bozzi V, Notarangelo LD, Gresele P, Heller P, Pujol-Moix N, Kunishima S, Cattaneo M, Bussel J, De Candia E, Cagioni C, Ramenghi U, Cagioni C, Fabris F, Balduini CL
    • Journal Title

      Blood

      Volume: 124 Issue: 6 Pages: e4-e10

    • DOI

      10.1182/blood-2014-03-564328

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] Spectrum of the mutations in Bernard-Soulier syndrome2014

    • Author(s)
      Savoia A, Kunishima S, et al
    • Journal Title

      Hum Mut

      Volume: 35 Issue: 9 Pages: 1033-1045

    • DOI

      10.1002/humu.22607

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Presentation] 新規検査法により診断された先天性巨大血小板症2016

    • Author(s)
      國島伸治 北村勝誠 山村喜美
    • Organizer
      第70回国立病院総合医学会
    • Place of Presentation
      那覇
    • Year and Date
      2016-11-11
    • Related Report
      2016 Annual Research Report
  • [Presentation] Differential diagnosis of congenital macrothrombocytopenia -12-year experience in Nagoya-2016

    • Author(s)
      Kunishima S, Saito H
    • Organizer
      Platelets2016: 9th International Symposium
    • Place of Presentation
      Wellesley, Massachusette, USA
    • Year and Date
      2016-09-16
    • Related Report
      2016 Annual Research Report
  • [Presentation] MYH9異常症遺伝子診断のための好中球ミオシン局在解析の細分類2016

    • Author(s)
      國島伸治 嘉田晃子 Hao Jihong 北村勝誠
    • Organizer
      第38回日本血栓止血学会学術集会
    • Place of Presentation
      奈良
    • Year and Date
      2016-06-16
    • Related Report
      2016 Annual Research Report
  • [Presentation] Further classification of neutrophil non-muscle myosin heavy chain IIA localization for efficient genetic diagnosis of MYH9 disorders2016

    • Author(s)
      Kunishima S, Kada A, Hao J
    • Organizer
      XXIX International Symposium on Technical Innovations in Laboratory Hematology
    • Place of Presentation
      Milano, Italy
    • Year and Date
      2016-05-12
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Functional Characterization of a Novel GFI1B Mutation Causing Congenital Macrothrombocytopenia2015

    • Author(s)
      Katsumasa Kitamura, Yusuke Okuno, Kenichi Yoshida, Masashi Sanada, Yuichi Shiraishi, Hideki Muramatsu, Ryoji Kobayashi, Satoru Miyano, Seiji Kojima, Seishi Ogawa, Shinji Kunishima
    • Organizer
      57th American Society for Hematology Annual Meeting and Exposition, 5-8 December 2015, Orlando, FL, USA.
    • Place of Presentation
      米国、オーランド
    • Year and Date
      2015-12-05
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] 原因不明の血小板減少症と診断されていた2B型von Willebrand病の親子例2015

    • Author(s)
      國島伸治 北村勝誠 八田京子
    • Organizer
      第16回日本検査血液学会学術集会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-07-11
    • Related Report
      2015 Research-status Report
  • [Presentation] 診断の迷宮-判断に迷う疾患へのアプローチ-2015

    • Author(s)
      國島伸治
    • Organizer
      第16回日本検査血液学会学術集会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-07-11
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] Genetic basis of congenital macrothrombocytopenia2015

    • Author(s)
      Shinji Kunishima
    • Organizer
      International Society on Thrombosis and Haemostasis Academy
    • Place of Presentation
      Webinar
    • Year and Date
      2015-03-25
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] Differential diagnosis of congenital macrothrombocytopenia2014

    • Author(s)
      Shinji Kunishima
    • Organizer
      8th Congress of the Asian-Pacific Society of Thrombosis and Hemostasis
    • Place of Presentation
      Hanoi
    • Year and Date
      2014-10-09 – 2014-10-11
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] 幹細胞技術の検査医学研究への応用2014

    • Author(s)
      國島伸治
    • Organizer
      第33回日本臨床検査医学会東海北陸支部例会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-08-02
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] MYH9異常症の体細胞モザイク2014

    • Author(s)
      國島伸治 北村勝誠 松本多絵 関根孝司
    • Organizer
      第15回日本検査血液学会学術集会
    • Place of Presentation
      仙台
    • Year and Date
      2014-07-20 – 2014-07-21
    • Related Report
      2014 Research-status Report
  • [Presentation] Molecular mechanisms for congenital macrothrombocytopenia2014

    • Author(s)
      國島伸治
    • Organizer
      第36回日本血栓止血学会学術集会
    • Place of Presentation
      大阪
    • Year and Date
      2014-05-29 – 2014-05-31
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] 巨核球特異的β1-tubulin異常は微小管構成阻害により胞体突起形成不全を来す2014

    • Author(s)
      國島伸治 北村勝誠 西村智 鈴木英紀 今泉益栄 齋藤英彦
    • Organizer
      第36回日本血栓止血学会学術集会
    • Place of Presentation
      大阪
    • Year and Date
      2014-05-29 – 2014-05-31
    • Related Report
      2014 Research-status Report
  • [Book] 小児の症候群2016

    • Author(s)
      國島伸治
    • Total Pages
      511
    • Publisher
      診断と治療社
    • Related Report
      2016 Annual Research Report
  • [Book] 血液科研修ノート2016

    • Author(s)
      國島伸治
    • Total Pages
      533
    • Publisher
      診断と治療社
    • Related Report
      2016 Annual Research Report
  • [Book] 小児血液・腫瘍学2015

    • Author(s)
      國島伸治
    • Total Pages
      8
    • Publisher
      診断と治療社
    • Related Report
      2015 Research-status Report
  • [Book] 小児慢性特定疾病―診断の手引き̶2015

    • Author(s)
      國島伸治
    • Total Pages
      7
    • Publisher
      診断と治療社
    • Related Report
      2015 Research-status Report
  • [Book] Annual Review 2015 血液2015

    • Author(s)
      兼松 毅 國島伸治
    • Total Pages
      240
    • Publisher
      中外医学社
    • Related Report
      2014 Research-status Report
  • [Book] 血栓・止血異常の診療2014

    • Author(s)
      國島伸治
    • Total Pages
      297
    • Publisher
      中山書店
    • Related Report
      2014 Research-status Report
  • [Remarks] 名古屋医療センター

    • URL

      http://www.nnh.go.jp

    • Related Report
      2016 Annual Research Report
  • [Remarks] 名古屋医療センター

    • URL

      http://www.nnh.go.jp/crc/

    • Related Report
      2015 Research-status Report
  • [Remarks] 名古屋医療センター臨床研究センター

    • URL

      http://www.nnh.go.jp/crc/

    • Related Report
      2014 Research-status Report

URL: 

Published: 2014-04-04   Modified: 2018-03-22  

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