Characterization of a novel disease entity due to GPIIb/IIIa mutations

• Project/Area Number: 23591429
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Hematology
• 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), 高度診断研究部, 室長 (60373495)
• Project Period (FY): 2011 – 2013
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000); Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2011: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: 先天性血小板減少症 / GPIIb/IIIa / 巨大血小板 / インテグリン

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.

Research Products

• [Journal Article] Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ibβ mutation. (2014)
  • Author(s): Sato T, Kunishima S, Shirayama R, Ichikawa S, Sakai M, Kusuhara K.
  • Journal Title: Acta Haematol Volume: 131 Issue: 1 Pages: 46-9
  • DOI: 10.1159/000351057
  • Peer Reviewed
• [Journal Article] Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype. (2013)
  • Author(s): Kashiwagi H, Kunishima S, Kiyomizu K, Amano Y, Shimada H, Morishita M, Kanakura Y, Tomiyama Y.
  • Journal Title: Mol Genet Genomic Med Volume: 1 Issue: 2 Pages: 77-86
  • DOI: 10.1002/mgg3.9
  • Peer Reviewed
• [Journal Article] Normal neutrophil myosin HA localization in an immunofluorescence analysis can rule out MYH9 disorders. (2013)
  • Author(s): Kitamura K, Yoshida K
  • Journal Title: J Thromb Haemost. Volume: 11 Issue: 11 Pages: 2071-2073
  • DOI: 10.1111/jth.12406
  • Peer Reviewed
• [Journal Article] Podocyte expression of nonmuscle myosin heavy chain-IIA decreases in idiopathic nephrotic syndrome, especially in focal segmental glomerulosclerosis. (2013)
  • 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.
  • Journal Title: Nephrol Dial Transplant. Volume: 28 Issue: 12 Pages: 2993-3003
  • DOI: 10.1093/ndt/gft350
  • Peer Reviewed
• [Journal Article] ANKRD26-related thrombocytopenia and myeloid malignancies. (2013)
  • Author(s): Noris P, Favier R, Alessi MC, Geddis AE, Kunishima S, et al.
  • Journal Title: Blood Volume: 122 Issue: 11 Pages: 1987-9
  • DOI: 10.1182/blood-2013-04-499319
  • Peer Reviewed
• [Journal Article] Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability. (2013)
  • 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.
  • Journal Title: PLoS One Volume: 8 Issue: 8 Pages: 41-50
  • DOI: 10.1371/journal.pone.0071187
  • NAID: 120006957397
  • Peer Reviewed
• [Journal Article] CAMT-iPS Cells Exhibiting Defective MPL Signaling Dysregulate Megakaryopoiesis and Erythropoiesis. (2013)
  • Author(s): Shinji Hirata, Naoya Takayama,Ryoko Jono-Ohnishi, Hiroshi Endo, Sou Nakamura, Takeaki Dohda, Masanori Nishi, Yuhei Hamazaki, Ei-ichi Ishii, Shin Kaneko, Makoto Otsu, Hiromitsu Nakauchi, Shinji Kunishima, and Koji Eto.
  • Journal Title: J Clin Invest. Volume: 123 Issue: 9 Pages: 3802-14
  • DOI: 10.1172/jci64721
  • Peer Reviewed
• [Journal Article] Transient macrothrombocytopenia associated with maternal-neonatal HPA-21bw incompatibility. (2013)
  • Author(s): Kunishima S, Hayakawa A, Fujita K, Saito H.
  • Journal Title: Thromb Res Volume: 131 Issue: 6 Pages: e286-e288
  • DOI: 10.1016/j.thromres.2013.05.005
  • Peer Reviewed
• [Journal Article] Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion. (2013)
  • Author(s): Kunishima S, Imai T, Kobayashi R, Kato M, Ogawa S, Saito H.
  • Journal Title: Pediatr Int Volume: 55 Issue: 4 Pages: 434-7
  • DOI: 10.1111/ped.12105
  • Peer Reviewed
• [Journal Article] ACTN1 Mutations Cause Congenital Macrothrombocytopenia (2013)
  • Author(s): 國島伸治、吉田健一
  • Journal Title: Am J Hum Genet Volume: 92 Issue: 3 Pages: 431-438
  • DOI: 10.1016/j.ajhg.2013.01.015
  • Peer Reviewed
• [Journal Article] Familial cases with MYH9 disorders caused by MYH9 S96L mutation (2013)
  • Author(s): Murayama S, Akiyama M, Namba H, Wada Y, Ida H, Kunishima S
  • Journal Title: Pediatr Int Volume: 55(1) Issue: 1 Pages: 102-4
  • DOI: 10.1111/j.1442-200x.2012.03619.x
• [Journal Article] Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure : case report and review of the literature (2013)
  • Author(s): Ishida M, Mori Y, Ota N, Inaba T, Kunishima S
  • Journal Title: Clin Nephrol Volume: 80(3) Issue: 09 Pages: 218-22
  • DOI: 10.5414/cn107237
• [Journal Article] Identification of the integrin B3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis (2012)
  • Author(s): Kobayashi Y
  • Journal Title: British Journal of Haematology Volume: 31 Issue: 4 Pages: 762-772
  • DOI: 10.1111/bjh.12160
  • Peer Reviewed
• [Journal Article] G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets (2012)
  • Author(s): Kunishima S
  • Journal Title: Eur J Med Genet Volume: 55 Issue: 12 Pages: 763-5
  • DOI: 10.1016/j.ejmg.2012.09.001
  • Peer Reviewed
• [Journal Article] Transient hemiparesis in a 14-year-old boy with MYH9 disorders (2012)
  • 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
  • Journal Title: Int J Hematol Volume: 96(3) Issue: 3 Pages: 376-9
  • DOI: 10.1007/s12185-012-1149-z
  • NAID: 10031121267
• [Journal Article] Thrombosis from a prothrombin mutation conveying antithrombin resistance. (2012)
  • 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
  • Journal Title: N Engl J Med. Volume: 366 Issue: 25 Pages: 2390-2396
  • DOI: 10.1056/nejmoa1201994
  • Peer Reviewed
• [Journal Article] Adams-Oliver syndrome and familial MYH9 mutation (2012)
  • Author(s): Uyeda T, Echizenya T, Eto S, Ohtani K, Sato T, Takahashi T, Ito E, Yonesaka S, Kunishima S
  • Journal Title: Pediatr Int Volume: 54(3) Issue: 3 Pages: 407-9
  • DOI: 10.1111/j.1442-200x.2011.03466.x
• [Journal Article] (2012)
  • 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.
  • Journal Title: Clin Genet Volume: 82(5) Issue: 5 Pages: 425-32
  • DOI: 10.1111/j.1399-0004.2012.01897.x
  • Peer Reviewed
• [Journal Article] Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl (2012)
  • Author(s): Tsuburaya R, Uematsu M, Kikuchi A, Hino-Fukuyo N, Kunishima S, Kato M, Haginoya K, Tsuchiya S
  • Journal Title: Am J Med Genet A Volume: 158A(3) Issue: 3 Pages: 674-7
  • DOI: 10.1002/ajmg.a.34258
  • Peer Reviewed
• [Journal Article] A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts (2012)
  • Author(s): Hao J, Kunishima S, Guo X, Hu R, Gao W
  • Journal Title: Ann Hematol Volume: 91(7) Issue: 7 Pages: 1147-8
  • DOI: 10.1007/s00277-011-1370-5
• [Journal Article] Early diagnosis improves the quality of life in MYH9 disorder (2012)
  • Author(s): Shiota M, Kunishima S, Hamabata T, Nakata M, Hata D
  • Journal Title: Pediatr Blood Cancer Volume: 58(2) Issue: 2 Pages: 314-5
  • DOI: 10.1002/pbc.23268
  • Peer Reviewed
• [Journal Article] Efficacy of inchinkoto for a patient with liver fibrosis complicated with transient abnormal myelopoiesis in Down's syndrome (2011)
  • Author(s): Takeyama M, Uchida Y, Arai I, Kamamoto T, Nishikubo T, Kanehiro H, Sado T, Kunishima S, Takahashi Y
  • Journal Title: Pediatr Int Volume: 53(6) Issue: 6 Pages: 1093-6
  • DOI: 10.1111/j.1442-200x.2011.03365.x
  • Peer Reviewed
• [Journal Article] Successful immunostaining demonstrates abnormal intracytoplasmic MYH9 protein (NMMHC-IIA) in neutrophils of a dog with May-Hegglin anomaly (2011)
  • Author(s): Flatland B, Kunishima S
  • Journal Title: Vet Clin Pathol Volume: 40(4) Issue: 4 Pages: 409-10
  • DOI: 10.1111/j.1939-165x.2011.00378.x
  • Peer Reviewed
• [Journal Article] Heterozygous ITGA2B R995W mutation inducing constitutive activation of the {alpha}IIb{beta}3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia (2011)
  • 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
  • Journal Title: Blood Volume: 117 Issue: 20 Pages: 5479-5484
  • DOI: 10.1182/blood-2010-12-323691
  • Peer Reviewed
• [Presentation] 発熱時の採血を契機としてMay-Hegglin異常の診断に至った男児例 (2014)
  • Author(s): 西村美穂 八戸由佳子 中川慎一郎 松尾陽子 大園秀一 上田耕一郎 稲田浩子 松石豊次郎 村上義比古 國島伸治
  • Organizer: 第478回日本小児科学会福岡地方会例会
  • Place of Presentation: 福岡
• [Presentation] 先天性血小板減少症の分子病態と鑑別診断 (2014)
  • Author(s): 國島伸治
  • Organizer: 第32回青森小児血液・腫瘍研究会
  • Place of Presentation: 青森
  • Invited
• [Presentation] 先天性巨大血小板症(シンポジウム「次世代シーケンサーによる小児血液、腫瘍疾患における研究の進展) (2013)
  • Author(s): 國島伸治
  • Organizer: 第55回日本小児血液・がん学会学術集会
  • Place of Presentation: 福岡
• [Presentation] ACTN1 mutations cause congenital macrothrombocytopenia (2013)
  • 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
• [Presentation] ACTN1 mutations cause congenital macrothrombocytopenia (symposium) XXIV Congress of (2013)
  • Author(s): Shinji Kunishima, Yusuke Okuno, Masashi Sanada, Koji Miyazaki, Michio Sakai, Akihiro Iguchi, Satoru Miyano, Hidehiko Saito, Seiji Kojima, and Seishi Ogawa
  • Organizer: the International Society on Thrombosis and Haemostasis
  • Place of Presentation: Amsterdam
• [Presentation] 周産期血液疾患のUp to Date「先天性巨大血小板症の病因解明と鑑別診断の進歩」(ワークショップ) (2013)
  • Author(s): 國島伸治
  • Organizer: 第23回日本産婦人科・新生児血液学会学術集会
  • Place of Presentation: 奈良
• [Presentation] 先天性血小板異常症の分子病-先天性巨大血小板症- (2013)
  • Author(s): 國島伸治
  • Organizer: 第35回日本血栓止血学会学術集会
  • Place of Presentation: 山形, (教育講演)
• [Presentation] Inherited platelet disorders (2013)
  • Author(s): Shinji Kunishima
  • Organizer: International Workshop on Hemostasis and Thrombosis, (Symposium)
  • Place of Presentation: Bangkok, Thailand
• [Presentation] Platelet function tests (2013)
  • Author(s): Shinji Kunishima
  • Organizer: International Workshop on Hemostasis and Thrombosis, (Symposium)
  • Place of Presentation: Bangkok, Thailand
• [Presentation] 先天性血液疾患の病態研究に関する最近の進歩 (2013)
  • Author(s): 國島伸治
  • Organizer: 第116回日本小児科学会学術集会, (シンポジウム)血小板異常症
  • Place of Presentation: 広島
• [Presentation] 先天性血液疾患の病態研究に関する最近の進歩 (2013)
  • Author(s): 國島伸治
  • Organizer: 第116回日本小児科学会学術集会
  • Place of Presentation: 広島
  • Invited
• [Presentation] 難聴を伴ったMay-Hegglin異常の家族例 (2013)
  • Author(s): 金田 眞 鳥海尚久 更科岳大 國島伸治 東 寛
  • Organizer: 第116回日本小児科学会学術集会
  • Place of Presentation: 広島
• [Presentation] Platelet function tests (2013)
  • Author(s): Shinji Kunishima
  • Organizer: International Workshop on Hemostasis and Thrombosis,
  • Place of Presentation: Bangkok, Thailand
  • Invited
• [Presentation] Inherited platelet disorders (2013)
  • Author(s): Shinji Kunishima
  • Organizer: International Workshop on Hemostasis and Thrombosis,
  • Place of Presentation: Bangkok
  • Invited
• [Presentation] 先天性血小板異常症の分子病態 (2013)
  • Author(s): 國島伸治
  • Organizer: 第35回日本血栓止血学会学術集会
  • Place of Presentation: 山形
  • Invited
• [Presentation] 針生検施行時に出血傾向の存在が疑われた巨大血小板性血小板減少症(GPD)の1例 (2013)
  • Author(s): 小川孔幸 柳澤邦雄 林 俊誠 合田 史 馬渡桃子 内海英貴 鬼頭有里 國島伸治
  • Organizer: 第35回日本血栓止血学会学術集会
  • Place of Presentation: 山形
• [Presentation] 血小板減少を契機にvon Willebrand病type2Bと診断された2家系の遺伝子解析 (2013)
  • Author(s): 三田直美 田中竜平 岸本麿由子 鈴木伸明 國島伸治 高津真由美 松本祐之 中村栄男 松下 正
  • Organizer: 第35回日本血栓止血学会学術集会
  • Place of Presentation: 山形
• [Presentation] 先天性巨大血小板症の病因解明と鑑別診断の進歩 (2013)
  • Author(s): 國島伸治
  • Organizer: 第23回日本産婦人科・新生児血液学会学術集会
  • Place of Presentation: 奈良
  • Invited
• [Presentation] Mutations responsible for ANKRD26-related thrombocytopenia increase the risk of hematological malignancies but are not frequently involved in de novo acute leukemias (2013)
  • Author(s): Carlo Balduini, Gennifer Yu, Paula Heller, Marie-Christine Alessi, Paola Giordano, Shinji Kunishima, et al.
  • Organizer: 18th Congress of the European Hematology Association
  • Place of Presentation: Stockholm
• [Presentation] A case of MYH9 disorder with kidney dysfunction successfully treated by Eltrombopag for inherited thrombocytopenia (2013)
  • Author(s): Eri Tanaka, Naoko Kinugawa, Shinji Kunishima
  • Organizer: 18th Congress of the European Hematology Association
  • Place of Presentation: Stockholm
• [Presentation] Impaired proplatelet formation in a novel Glanzmann variant macrothrombocytopenia (2013)
  • Author(s): Koji Miyazaki, Shinji Kunishima, Hirokazu Kashiwagi, Yoshiaki Tomiyama, Masaaki, Higashihara
  • Organizer: 18th Congress of the European Hematology Association
  • Place of Presentation: Stockholm
• [Presentation] ACTN1 mutations cause congenital macrothrombocytopenia (2013)
  • Author(s): Shinji Kunishima, Yusuke Okuno, Masashi Sanada, Koji Miyazaki, Michio Sakai, Akihiro Iguchi, Satoru Miyano, Hidehiko Saito, Seiji Kojima, and Seishi Ogawa
  • Organizer: XXIV Congress of the International Society on Thrombosis and Haemostasis
  • Place of Presentation: Amsterdam
• [Presentation] Aberrant mRNA processing in compound heterozygote with glycoprotein IIb gene mutations causing Glanzmann thrombasthenia (2013)
  • Author(s): Junko Fujita, Moe Murata, Yoko Kajiura, Akira Takagi, Takashi Murate, Tadashi Matsushita, Shinji Kunishima, Tetsuhito Kojima
  • Organizer: XXIV Congress of the International Society on Thrombosis and Haemostasis
  • Place of Presentation: Amsterdam
• [Presentation] Demonstration of novel gain-of-function mutations of aIIbβ3: association with macrothrombocytopenia and Glanzmann thrombasthenia-like phenotype (2013)
  • Author(s): Hirokazu Kashiwagi, Shinji Kunishima, Kazunobu Kiyomizu, Yoshiro Amano, Hiroyuki Shimada, Masashi Morishita, Yuzuru Kanakura, Yoshiaki Tomiyama
  • Organizer: XXIV Congress of the International Society on Thrombosis and Haemostasis
  • Place of Presentation: Amsterdam
• [Presentation] Genetic analyses of two patients with von Willebrand disease (VWD) type2B Implication of type 2B in the differential diagnosis for thrombocytopenic patients (2013)
  • Author(s): Naomi Sanda, Ryuhei Tanaka, Mayuko Kishimoto, Nobuaki Suzuki, Shinji Kunishima, Mayumi Takatsu, Hiroyuki Matsumoto, Shigeo Nakamura, Tadashi Matsushita
  • Organizer: XXIV Congress of the International Society on Thrombosis and Haemostasis
  • Place of Presentation: Amsterdam
• [Presentation] 血小板減少と末梢血標本の観察からtype2B VWDの診断に至った１症例 (2013)
  • Author(s): 前田奈弥 高津真由美 亀山なつみ 杉浦由姫乃 三田直美 稲垣恵章 松本祐之 濱 麻人 國島伸治 松下 正
  • Organizer: 第14回日本検査血液学会学術集会
  • Place of Presentation: 東京
• [Presentation] 腎障害の経過が緩徐なEpstein症候群の1例 (2013)
  • Author(s): 遣田美貴 菅野直希 古谷麻衣子 坪井伸夫 宮崎陽一 小倉誠 徳留悟朗 細谷龍男 横尾隆 海渡健 國島伸治
  • Organizer: 第43回日本腎臓学会東部学術大会
  • Place of Presentation: 東京
• [Presentation] Successful treatment of MYH9 disorders with romiplostim for neurosurgery (2013)
  • Author(s): Jun Yamanouchi, Takaaki Hato, Toshiyuki Niiya, Shinji Kunishima, Masaki Yasukawa
  • Organizer: 第75回日本血液学会総会
  • Place of Presentation: 札幌
• [Presentation] Dominant inheritance of familial thrombocytopenia caused by integrin αIIbβ3 (GPIIb/IIIa) mutation (2013)
  • Author(s): Tsumura M, Kobayashi Y, Matsui H, Kanai A, Okada S, Miki M, Nakamura K, Kunishima S, Inaba T, Kobayashi M
  • Organizer: 第75回日本血液学会総会
  • Place of Presentation: 札幌
• [Presentation] 先天性血小板減少症の分子病態と鑑別診断 (2013)
  • Author(s): 國島伸治
  • Organizer: 第17回栃木県血液疾患講演会
  • Place of Presentation: 宇都宮
  • Invited
• [Presentation] 先天性巨大血小板症 (2013)
  • Author(s): 國島伸治
  • Organizer: 第55回日本小児血液・がん学会学術集会
  • Place of Presentation: 福岡
  • Invited
• [Presentation] MYH9異常症における免疫蛍光染色の有用性 (2013)
  • Author(s): 北村勝誠 國島伸治 吉田健一 小川誠司 白石友一 千葉健一 田中洋子 宮野悟 古川鋼一
  • Organizer: 第55回日本小児血液・がん学会学術集会
  • Place of Presentation: 福岡
• [Presentation] 母子間HPA-21bw不適合に認められた一過性巨大血小板症 (2012)
  • Author(s): 國島伸治, 早川晶, 藤田花織
  • Organizer: 第20回小児ITP研究会
  • Place of Presentation: 東京
  • Year and Date: 2012-11-17
• [Presentation] 先天性巨大血小板症(教育セッション7血小板・ITP) (2012)
  • Author(s): 國島伸治
  • Organizer: 第53回日本小児血液・がん学会学術集会
  • Place of Presentation: 前橋, (教育講演)
• [Presentation] Identification of integrin β3 L718P mutation in a pedigree with autosomal dominant macrothrombocytopenia (2012)
  • Author(s): Kobayashi Y
  • Organizer: 54th American Society for Hematology Annual Meeting and Exposition
  • Place of Presentation: アトランタ
• [Presentation] Diagnosis of congenital macrothrombocytopenias (2011)
  • Author(s): Shinji Kunishima
  • Organizer: XXIII Congress of the International Society on Thrombosis and Haemostasis
  • Place of Presentation: Kyoto
• [Presentation] 異常単球における封入体 (2011)
  • Author(s): 國島伸治, Hao Jihong(郝冀洪), 山村喜美, May-Hegglin
  • Organizer: 第12回日本検査血液学会学術集会
  • Place of Presentation: 倉敷
• [Presentation] 中国人MYH9異常症の２家系 (2011)
  • Author(s): Hao Jihong
  • Organizer: 第12回日本検査血液学会学術集会
  • Place of Presentation: 倉敷
• [Presentation] May-Hegglin異常単球における封入体 (2011)
  • Author(s): 國島伸治
  • Organizer: 第12回日本検査血液学会学術集会
  • Place of Presentation: 倉敷
• [Presentation] GPIIb 遺伝子において複合へテロ変異を認めた血小板無力症の一症例解析 (2011)
  • Author(s): 藤田絢子
  • Organizer: 第12回日本検査血液学会学術集会
  • Place of Presentation: 倉敷
• [Presentation] Fechtner症候群が疑われる兄弟例の報告 (2011)
  • Author(s): 笠原秀範
  • Organizer: 第41回日本腎臓学会西部学術大会
  • Place of Presentation: 徳島
• [Presentation] R702C mutation of the MYH9 gene causes great changes in blood cell and other organs in mice model (2011)
  • Author(s): Nobuaki Suzuki
  • Organizer: 第73回日本血液学会総会
  • Place of Presentation: 名古屋
• [Presentation] Molecular basis of an AT-resistant variant thrombin found in a Japanese family with thrombophilia (2011)
  • Author(s): Yuhri Miyawaki
  • Organizer: 第73回日本血液学会総会
  • Place of Presentation: 名古屋
• [Presentation] 脾破裂を契機に診断された家族性血小板血症 (2011)
  • Author(s): 黒澤秀光
  • Organizer: 第53回日本小児血液学会総会
  • Place of Presentation: 前橋
• [Presentation] Modeling congenital amegakaryocytic thrombocytopenia using patient-specific induced pluripotent stem cells (2011)
  • Author(s): Naoya Takayama
  • Organizer: 53rd American Society for Hematology Annual Meeting and Exposition
  • Place of Presentation: San Diego
• [Presentation] International Consortium for the study of clinical and molecular aspects of Bernard-Soulier syndrome (2011)
  • Author(s): Anna Savoia
  • Organizer: 53rd American Society for Hematology Annual Meeting and Exposition
  • Place of Presentation: San Diego
• [Presentation] Mutations identified in thrombocytopenia THC2 are likely to dysregulate ANKRD26 expression (2011)
  • Author(s): Chiara Gnan
  • Organizer: 53rd American Society for Hematology Annual Meeting and Exposition
  • Place of Presentation: San Diego
• [Presentation] Diagnosis of congenital macrothrombocytopenias (2011)
  • Author(s): Shinji Kunishima
  • Organizer: XXIII Congress of the International Society on Thrombosis and Haemostasis(招待講演)
  • Place of Presentation: 京都
• [Presentation] 先天性血小板減少症の鑑別診断 (2011)
  • Author(s): 國島伸治
  • Organizer: 第19回日本小児ITP研究会(招待講演)
  • Place of Presentation: 東京
• [Presentation] 先天性巨大血小板症 (2011)
  • Author(s): 國島伸治
  • Organizer: 第53回日本小児血液・がん学会学術集会(招待講演)
  • Place of Presentation: 前橋
• [Presentation] 先天性血小板減少症の鑑別診断
  • Author(s): 國島伸治
  • Organizer: 北陸小児血液懇話会
  • Place of Presentation: 金沢
  • Invited
• [Book] 血小板産生とその異常-先天性巨大血小板症- Annual Review 2014血液 (2014)
  • Author(s): 國島伸治, (高久史麿、小澤敬也、坂田洋一、金倉譲、小島勢二編集)
  • Publisher: 中外医学社, (東京)
• [Book] 血小板産生とその異常-先天性巨大血小板症-Annual Review 2014 血液 (2014)
  • Author(s): 國島伸治
  • Total Pages: 240
  • Publisher: 中外医学社
• [Book] Bernard-Soulier症候群日本臨床新領域別症候群シリーズNo22血液症候群第2版 (2013)
  • Author(s): 國島伸治
  • Publisher: 日本臨床社, (東京)
• [Book] Fechtner症候群日本臨床新領域別症候群シリーズNo22血液症候群第2版 (2013)
  • Author(s): 國島伸治
  • Publisher: 日本臨床社, (東京)
• [Book] Sebastian症候群日本臨床新領域別症候群シリーズNo22血液症候群第2版 (2013)
  • Author(s): 國島伸治
  • Publisher: 日本臨床社, (東京)
• [Book] Epstein症候群日本臨床新領域別症候群シリーズNo22血液症候群第2版 (2013)
  • Author(s): 國島伸治
  • Publisher: 日本臨床社, (東京)
• [Book] 日本臨床 新領域別症候群シリーズNo22 血液症候群第2版 (2013)
  • Author(s): 國島伸治
  • Publisher: 日本臨床社
• [Book] May-Hegglin anomaly.標本に学ぶ血液疾患症例 (2012)
  • Author(s): 國島伸治、齋藤英彦
  • Publisher: 医薬ジャーナル社, (大阪)
• [Book] 先天性巨大血小板症の原因となるGPIIb/IIIa異常Annual Review 2012血液 (2012)
  • Author(s): 國島伸治, (高久史麿、小澤敬也、坂田洋一、金倉譲、小島勢二編集)
  • Publisher: 中外医学社, (東京)
• [Remarks]
  • URL: http://www.nnh.go.jp
• [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/
• [Remarks]
  • URL: http://www.nnh.go.jp/crc/index.html