2013 Fiscal Year Final Research Report
Characterization of a novel disease entity due to GPIIb/IIIa mutations
| Project/Area Number |
23591429
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Hematology
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| Research Institution | National Hospital Organization Nagoya Medical Center |
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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), 高度診断研究部, 室長 (60373495)
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| Project Period (FY) |
2011 – 2013
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| Keywords | 先天性血小板減少症 |
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| Research Abstract |
We identified and characterized the juxtamembrane domain mutations of the GPIIb/IIIa receptor as a novel etiology of congenital macrothrombocytopenia. Because this domain is important for the inactive conformation the receptor, GPIIb/IIIa become constitutively activated by the mutation without ligand binding. The surface expression of platelet GPIIb/IIIa is decreased. There is spontaneous binding of PAC1 antibody, which recognizes active conformation of GPIIb/IIIa, to resting platelets without P-selectin expression. Large and decreased platelets were produced from the mutant GPIIb/IIIa-transduced megakaryocytes. This condition is the third most common cause of congenital macrothrombocytopenia in Japan.
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[Journal Article] Podocyte expression of nonmuscle myosin heavy chain-IIA decreases in idiopathic nephrotic syndrome, especially in focal segmental glomerulosclerosis2013
Author(s)
Miura K, Kurihara H, Horita S, Chikamoto H, Hattori M, Harita Y, Tsurumi H, Kajiho Y, Sawada Y, Sasaki S, Igarashi T, Kunishima S, Sekine T
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Journal Title
Nephrol Dial Transplant
Volume: 28(12)
Pages: 2993-3003
DOI
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[Journal Article] ANKRD26-related thrombocytopenia and myeloid malignancies2013
Author(s)
Noris P, Favier R, Alessi MC, Geddis AE, Kunishima S, Heller PG, Giordano P, Niederhoffer KY, Bussel JB, Podda GM, Vianelli N, Kersseboom R, Pecci A, Gnan C, Marconi C, Auvrignon A, Cohen W, Yu JC, Iguchi A, Miller Imahiyerobo A, Boehlen F, Ghalloussi D, De Rocco D, Magini P, Civaschi E, Biino G, Seri M, Savoia A, Balduini CL
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Journal Title
Blood
Volume: 122(11)
Pages: 1987-9
DOI
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[Journal Article] Establishment of mouse model of MYH9 disorders : heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability2013
Author(s)
Suzuki N, Kunishima S, Ikejiri M, Maruyama S, Sone M, Takagi A, Ikawa M, Okabe M, Kojima T, Saito H, Naoe T, Matsushita T
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Journal Title
PLoS One
Volume: 8(8)
Pages: e71187
DOI
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[Journal Article] Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling2013
Author(s)
Hirata S, Takayama N, Jono-Ohnishi R, Endo H, Nakamura S, Dohda T, Nishi M, Hamazaki Y, Ishii E, Kaneko S, Otsu M, Nakauchi H, Kunishima S, Eto K
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Journal Title
J Clin Invest
Volume: 123(9)
Pages: 3802-14
DOI
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[Journal Article] ACTN1 mutations cause congenital macrothrombocytopenia2013
Author(s)
Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S
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Journal Title
Am J Hum Genet
Volume: 92(3)
Pages: 431-8
DOI
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[Journal Article] Transient hemiparesis in a 14-year-old boy with MYH9 disorders2012
Author(s)
Kitamura K, Kunishima S, Tahara M, Ogiwara S, Dobata N, Dobata T, Sugihara A, Nakashima T, Sasaki Y, Nagumo K, Kubota M, Kinugawa Y, Ieko M, Kumaki S
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Journal Title
Int J Hematol
Volume: 96(3)
Pages: 376-9
DOI
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[Journal Article] Thrombosis from a prothrombin mutation conveying antithrombin resistance2012
Author(s)
Miyawaki Y, Suzuki A, Fujita J, Maki A, Okuyama E, Murata M, Takagi A, Murate T, Kunishima S, Sakai M, Okamoto K, Matsushita T, Naoe T, Saito H, Kojima T
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Journal Title
N Engl J Med
Volume: 366(25)
Pages: 2390-6
DOI
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[Journal Article] A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy2012
Author(s)
Matsunaga T, Mutai H, Kunishima S, Namba K, Morimoto N, Shinjo Y, Arimoto Y, Kataoka Y, Shintani T, Morita N, Sugiuchi T, Masuda S, Nakano A, Taiji H, Kaga K
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Journal Title
Clin Genet
Volume: 82(5)
Pages: 425-32
DOI
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[Journal Article] Heterozygous ITGA2B R995W mutation inducing constitutive activation of theαIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia2011
Author(s)
Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M, Miyajima Y, Takamatsu Y, Suzumiya J, Matsubara K, Tomiyama Y, Saito H
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Journal Title
Blood
Volume: 117(20)
Pages: 5479-84
DOI
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[Presentation] ACTN1 mutations cause congenital macrothrombocytopenia2013
Author(s)
Shinji Kunishima, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Masashi Sanada, Hideki Muramatsu, Kenichi Chiba, Hiroko Tanaka, Koji Miyazaki, Michio Sakai, Masatoshi Ohtake, Ryoji Kobayashi, Akihiro Iguchi, Gen Niimi, Makoto Otsu, Yoshiyuki Takahashi, Satoru Miyano, Hidehiko Saito, Seiji Kojima, and Seishi Ogawa
Organizer
第75回日本血液学会総会
Place of Presentation
札幌
Year and Date
20131011-13
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