Molecular pathogenesis of beta1 tubulin disorders
Project/Area Number |
26461413
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Hematology
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Research Institution | National 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)
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Project Period (FY) |
2014-04-01 – 2017-03-31
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Project Status |
Completed (Fiscal Year 2016)
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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)
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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.
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Report
(4 results)
Research Products
(36 results)
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[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
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Journal Title
Blood
Volume: 129
Issue: 4
Pages: 520-4
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[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
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Journal Title
J Thromb Haemost
Volume: 14
Issue: 7
Pages: 1462-9
DOI
Related Report
Peer Reviewed
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[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
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Journal Title
Journal of cell biology
Volume: 未
Issue: 3
Pages: 453-66
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[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
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Journal Title
Blood
Volume: 125
Issue: 5
Pages: 869-872
DOI
Related Report
Peer Reviewed
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[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
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Journal Title
Blood
Volume: 124
Issue: 6
Pages: e4-e10
DOI
Related Report
Peer Reviewed
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[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
Int'l Joint Research
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