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Molecular pathogenesis of MYH9 disorders

Research Project

Project/Area Number 20591161
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Hematology
Research InstitutionClinical research Center, Nagoya National Hospital.

Principal Investigator

KUNISHIMA Shinji  Clinical research Center, Nagoya National Hospital., 高度診断研究部, 室長 (60373495)

Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2010: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2009: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2008: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
KeywordsMay-Hegglin anomaly / 先天性血小板減少症 / 先天性巨大血小板症 / MYH9異常症 / NMMHC-IIA
Research Abstract

The MYH9 disorders are autosomal dominant congenital platelet disorders, characterized by giant platelets, thrombocytopenia, and granulocyte inclusion bodies. COS7 cells transfected with wild-type full length MYH9 cDNA and that with the single base deletion mutation of Exon 40 identified in patients showed the normal fiber localization of NMMHC-IIA protein without forming inclusion bodies. Inhibition of lamellipodial extension and increase in the number of focal adhesion complex in transfected COS7 cells, with or without MYH9 mutation, suggested functional expression of mutant NMMHC-IIA.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (121 results)

All 2011 2010 2009 2008 Other

All Journal Article (47 results) (of which Peer Reviewed: 38 results) Presentation (68 results) Book (2 results) Remarks (4 results)

  • [Journal Article] FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia.2010

    • Author(s)
      Kunishima S, Ito-Yamamura Y, Hayakawa A, Yamamoto T, Saito H.
    • Journal Title

      J Hum Genet 55

      Pages: 844-6

    • NAID

      10030738152

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Patients with Epstein?Fechtner syndromes owing to MYH9R702 mutations develop progressive proteinuric renal disease.2010

    • Author(s)
      Sekine T, Konno M, Sasaki S, Moritani S, Miura T, Wong WS, Nishio H, Nishiguchi T, Yoshinari-Ohuchi M, Tsuchiya S, Matsuyama T, Kanegane H, Ida K, Miura K, Harita Y, Igarashi T, Hattori M, Horita S, Saito H, Kunishima S.
    • Journal Title

      Kidney Int 78

      Pages: 207-14

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein2010

    • Author(s)
      Okada H, Kunishima S, Hamaguchi M, Takagi A, Yamamoto K, Takamatsu J, Matsushita T, Saito H, Kojima T, Yamazaki T.
    • Journal Title

      S.Thromb Res 125

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Paris-Trousseau-type macrothrombocytopenia without 11q deletion.2010

    • Author(s)
      Kaya Z, Kocak U, Percin F, Kunishima S, Albayrak M, Gursel T, Ozogul C.
    • Journal Title

      Pediatr Int. 52

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] A family of type 2B von Willebrand disease with R1306W mutation-severe thrombocytopenia leads to the normalization of high molecular weight multimers-.2010

    • Author(s)
      Ozeki M, Kunishima S, Kasahara K, Funato M, Teramoto T, Kaneko H, Fukao T, Kondo N.
    • Journal Title

      Thromb Res 125

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Paris-Trousseau-type macrothrombocytopenia without 11q deletion.2010

    • Author(s)
      Kaya Z
    • Journal Title

      Pediatr Int

      Volume: 52

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein S.2010

    • Author(s)
      Okada H
    • Journal Title

      Thromb Res

      Volume: 125

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease.2010

    • Author(s)
      Sekine T
    • Journal Title

      Kidney Int

      Volume: 78 Pages: 207-14

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] FLNA p.V528M substitution is neither associated with bilateral periven tricular nodular heterotopia nor with macrothrombocytopenia.2010

    • Author(s)
      Kunishima S
    • Journal Title

      J Hum Genet

      Volume: 55 Pages: 844-6

    • NAID

      10030738152

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Advances in the understanding of MYH9 disorders.2010

    • Author(s)
      Kunishima S
    • Journal Title

      Curr Opin Hematol

      Volume: 17 Pages: 405-10

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness.2010

    • Author(s)
      Kunishima S
    • Journal Title

      Genet Test Mol Biomarkers 13

      Pages: 705-7

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Aberrant DNA methylation of the p57KIP2 gene is a sensitive biomarker for detecting minimal residual disease in diffuse large B cell lymphoma.2010

    • Author(s)
      Hagiwara K
    • Journal Title

      Leukemia Res 34

      Pages: 50-4

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A family of type 2B von Willebrand disease with R1306W mutation-severe thrombocytopenia leads to the normalization of high molecular weight multitmers-.2010

    • Author(s)
      Ozeki M
    • Journal Title

      Thromb Res 125

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness.2009

    • Author(s)
      Kunishima S, Matsunaga T, Ito Y, Saito H.
    • Journal Title

      Genet Test Mol Biomarkers 13

      Pages: 705-7

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] A rare case of MYH9 disorders presenting with macrothrombocytopenia and deafness caused by MYH9-R702C mutation.2009

    • Author(s)
      Kodama R, Taketani T, Kunishima S, Mishima S, Yoshikawa Y, Kanai R, Suyama T, Yoshino I, Kunishi H, Shibata H, Nagai A, Yamaguchi S, MasudaJ.
    • Journal Title

      Thromb Res 124

      Pages: 508-11

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibα gene in a patient with Bernard-Soulier syndrome.2009

    • Author(s)
      Imai C, Kunishima S, Takachi T, Iwabuchi H, Nemoto T, Imamura M, Uchiyama M.
    • Journal Title

      Blood Coagul Fibrinolysis 20

      Pages: 470-4

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24.2009

    • Author(s)
      Miyazaki K, Kunishima S, Fujii W, Higashihara M.
    • Journal Title

      Eur J Haematol 83

      Pages: 230-4

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Germinal mosaicism in MYH9 disorders : a family with two affected siblings of normal parents.2009

    • Author(s)
      Kunishima S, Takaki K, Ito Y, Saito H.
    • Journal Title

      Br J Haematol 145

      Pages: 260-2

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Identification of the first in cis mutations in MYH9 disorder.2009

    • Author(s)
      Miyajima Y, Kunishima S.
    • Journal Title

      Eur J Haematol 82

      Pages: 288-91

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutation of the β1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.2009

    • Author(s)
      Kunishima S, Kobayashi R, Itoh TJ, Hamaguchi M, Saito H.
    • Journal Title

      Blood 113

      Pages: 458-61

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Identification of the first in cis mutations in MYH9 disorder.2009

    • Author(s)
      Miyajima Y
    • Journal Title

      Eur J Haematol 82

      Pages: 288-91

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Germinal mosaicism in MYH9 disorders : a family with two affected siblings of normal parents.2009

    • Author(s)
      Kunishima S
    • Journal Title

      Br J Haematol 145

      Pages: 260-2

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24.2009

    • Author(s)
      Miyazaki K
    • Journal Title

      Eur J Haematol 83

      Pages: 230-4

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibαgene in a patient with Bernard-Soulier syndrome.2009

    • Author(s)
      Imai C
    • Journal Title

      Blood Coagul Fibrinolysis 20

      Pages: 470-4

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A rare case of MYH9 disorders presenting with macrothrombocytopenia and deafness caused by MYH9-R702C mutation.2009

    • Author(s)
      Kodama R
    • Journal Title

      Thromb Res 124

      Pages: 508-11

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 白血球封入体を伴う巨大血小板性血小板減少症とMYH9異常症2009

    • Author(s)
      國島伸治
    • Journal Title

      臨床病理 57

      Pages: 365-70

    • NAID

      10025224748

    • Related Report
      2009 Annual Research Report
  • [Journal Article] MYH9により制御きれる血小板産生と血小板収縮機能.2009

    • Author(s)
      國島伸治
    • Journal Title

      血栓止血誌 20

      Pages: 301-6

    • Related Report
      2009 Annual Research Report
  • [Journal Article] 先天性巨大血小板症の診断.2009

    • Author(s)
      國島伸治
    • Journal Title

      日本内科学会誌 98

      Pages: 1593-8

    • NAID

      10025192926

    • Related Report
      2009 Annual Research Report
  • [Journal Article] 血小板減少症と血小板機能異常症2009

    • Author(s)
      國島伸治
    • Journal Title

      小児科内科増刊号 小児疾患診療のための病態生理第4版 41

      Pages: 1117-23

    • Related Report
      2009 Annual Research Report
  • [Journal Article] Mutation of the β1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly2009

    • Author(s)
      Kunishima S
    • Journal Title

      Blood 113

      Pages: 458-61

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] May-Hegglin anomaly : morphologic and clinical manifestations2009

    • Author(s)
      Saito H
    • Journal Title

      Clin Adv Hematol Oncol 7

      Pages: 111-3

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] May-Hegglin 異常の分子病態2009

    • Author(s)
      國島伸治
    • Journal Title

      血液腫瘍科 58

      Pages: 103-8

    • NAID

      40019065260

    • Related Report
      2008 Annual Research Report
  • [Journal Article] 古くて新しい病気 May-Hegglin 異常-新しい検査と新しい概念-2009

    • Author(s)
      國島伸治
    • Journal Title

      臨床病理 57

      Pages: 54-9

    • NAID

      10025224197

    • Related Report
      2008 Annual Research Report
  • [Journal Article] 先天性無巨核球性血小板減少症2009

    • Author(s)
      國島伸治
    • Journal Title

      分子細胞治療 8

      Pages: 129-133

    • Related Report
      2008 Annual Research Report
  • [Journal Article] Accumulation of MYH9 mRNA at leukocyte inclusion bodies in MYH9 disorders.2008

    • Author(s)
      Kunishima S, Hirano K, Hamaguchi M, Saito H.
    • Journal Title

      Eur J Haematol 81

      Pages: 325-6

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Identification and characterization of the first large MYH9 gene deletion associated with MYH9 disorders.2008

    • Author(s)
      Kunishima S, Matsushita T, Hamaguchi M, Saito H.
    • Journal Title

      Eur J Haematol 80

      Pages: 540-4

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Characterization of a patient with atypical amegakaryocytic thrombocytopenia.2008

    • Author(s)
      Kanaji S, Kanaji T, Migita M, Kunishima S, Kunicki TJ, Okamura T, Izuhara K.
    • Journal Title

      Eur J Haematol 80

      Pages: 361-4

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders.2008

    • Author(s)
      Kunishima S, Hamaguchi M, Saito H.
    • Journal Title

      Blood 111

      Pages: 3015-23

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders2008

    • Author(s)
      Kunishima S
    • Journal Title

      Blood 111

      Pages: 3015-23

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Characterization of a patient with atypical amegakaryocytic thrombocytopenia2008

    • Author(s)
      Kanaji S
    • Journal Title

      Eur J Haematol 80

      Pages: 361-4

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification and characterization of the first large MYH9 gene deletion associated with MYH9 disorders2008

    • Author(s)
      Kunishima S
    • Journal Title

      Eur J Haematol 80

      Pages: 540-4

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Accumulation of MYH9 mRNA at leukocyte inclusion bodies in MYH9 disorders2008

    • Author(s)
      Kunishima S
    • Journal Title

      Eur J Haematol 81

      Pages: 325-6

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutational analysis of SOS1 in acute myeloid leukemia2008

    • Author(s)
      Tanizaki R
    • Journal Title

      Int J Hematol 88

      Pages: 460-2

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Historical Hematology : May-Hegglin anomaly2008

    • Author(s)
      Saito H
    • Journal Title

      Am J Hematol 83

      Pages: 304-6

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A型細胞性ミオシン重鎖の免疫蛍光染色が診断に有用であった May-Hegglin 異常の姉妹例2008

    • Author(s)
      木村典子
    • Journal Title

      臨床血液 49

      Pages: 1614-168

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 病気のはなし メイヘグリン異常2008

    • Author(s)
      國島伸治
    • Journal Title

      検査と技術 36

      Pages: 470-4

    • Related Report
      2008 Annual Research Report
  • [Journal Article] May-Hegglin 異常の新規鑑別診断法2008

    • Author(s)
      國島伸治
    • Journal Title

      日本検査血液学会誌 9

      Pages: 395-400

    • Related Report
      2008 Annual Research Report
  • [Presentation] 先天性巨大血小板性血小板減少症2011

    • Author(s)
      國島伸治
    • Organizer
      先天性造血不全シンポジウム
    • Place of Presentation
      浦安
    • Year and Date
      2011-02-05
    • Related Report
      2010 Final Research Report
  • [Presentation] 先天性巨大血小板性血小板減少症2011

    • Author(s)
      國島伸治
    • Organizer
      先天性造血不全シンポジウム
    • Place of Presentation
      浦安市
    • Year and Date
      2011-02-05
    • Related Report
      2010 Annual Research Report
  • [Presentation] GPIIb/IIIa異常による新規先天性巨大血小板症2010

    • Author(s)
      國島伸治
    • Organizer
      第18回日本小児ITP研究会
    • Place of Presentation
      東京
    • Year and Date
      2010-11-20
    • Related Report
      2010 Final Research Report
  • [Presentation] GPIIb/IIIa異常による新規先天性巨大血小板症2010

    • Author(s)
      國島伸治
    • Organizer
      第18回日本小児ITP研究会
    • Place of Presentation
      東京都
    • Year and Date
      2010-11-20
    • Related Report
      2010 Annual Research Report
  • [Presentation] 先天性巨大血小板症の病因・病態解析と鑑別診断2010

    • Author(s)
      國島伸治
    • Organizer
      第8回血液・血管オルビス
    • Place of Presentation
      東京
    • Year and Date
      2010-08-22
    • Related Report
      2010 Final Research Report
  • [Presentation] 先天性巨大血小板症の病因・病態解析と鑑別診断2010

    • Author(s)
      國島伸治
    • Organizer
      第8回血液・血管オルビス
    • Place of Presentation
      東京都(指名講演)
    • Year and Date
      2010-08-22
    • Related Report
      2010 Annual Research Report
  • [Presentation] Bernard-Soulier症候群の遺伝子診断により22q11.2欠失が明らかとなった1女児例2010

    • Author(s)
      赤杉和宏
    • Organizer
      第23回近畿小児科学会
    • Place of Presentation
      大津
    • Year and Date
      2010-03-14
    • Related Report
      2009 Annual Research Report
  • [Presentation] Glycoprotein Iib/IIIa変異による先天性巨大血小板症2010

    • Author(s)
      内田佳子
    • Organizer
      第28回京都大学小児血液腫瘍研究会
    • Place of Presentation
      京都
    • Year and Date
      2010-03-06
    • Related Report
      2009 Annual Research Report
  • [Presentation] 先天性巨大血小板症における新規GPIIb変異の同定2010

    • Author(s)
      國島伸治
    • Organizer
      第11回日本検査血液学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2010 Final Research Report
  • [Presentation] Molecular mechanisms for macrothrombocytopenia2010

    • Author(s)
      國島伸治
    • Organizer
      第72回日本血液学会総会
    • Place of Presentation
      横浜
    • Related Report
      2010 Final Research Report
  • [Presentation] NHOネットワーク共同研究-先天性血小板減少症の診断ガイドライン作成に関する研究-2010

    • Author(s)
      國島伸治
    • Organizer
      第64回国立病院総合医学会
    • Place of Presentation
      福
    • Related Report
      2010 Final Research Report
  • [Presentation] 先天性巨大血小板性血小板減少症家系において見いだした新規GPIIIa遺伝子変異2010

    • Author(s)
      國島伸治
    • Organizer
      第52回日本小児血液学会総会
    • Place of Presentation
      大阪
    • Related Report
      2010 Final Research Report
  • [Presentation] Molecular mechanisms for macrothrombocytopenia2010

    • Author(s)
      國島伸治
    • Organizer
      第72回日本血液学会総会
    • Place of Presentation
      横浜市
    • Related Report
      2010 Annual Research Report
  • [Presentation] 巨核球造血、血小板産生異常を呈する病態解析細胞モデルの開発2010

    • Author(s)
      大西椋子
    • Organizer
      第33回日本血栓止血学会学術集会
    • Place of Presentation
      鹿児島市
    • Related Report
      2010 Annual Research Report
  • [Presentation] ヒトES細胞・iPS細胞をソースとするin vitro血小板産生モデル2010

    • Author(s)
      江藤浩之
    • Organizer
      第33回日本血栓止血学会学術集会
    • Place of Presentation
      鹿児島市
    • Related Report
      2010 Annual Research Report
  • [Presentation] 免疫染色によるMYH9と尿蛋白症との関連性についての検討2010

    • Author(s)
      三浦健一郎
    • Organizer
      第53回日本腎臓学会学術総会
    • Place of Presentation
      神戸市
    • Related Report
      2010 Annual Research Report
  • [Presentation] 特発性FSGSにおけるポドサイトNMMHC-IIA(MYH9)発現の解析2010

    • Author(s)
      三浦健一郎
    • Organizer
      第45回日本小児腎臓病学会学術集会
    • Place of Presentation
      大阪市
    • Related Report
      2010 Annual Research Report
  • [Presentation] 先天性巨大血小板症における新規GPIIb変異の同定2010

    • Author(s)
      國島伸治
    • Organizer
      第11回日本検査血液学会学術集会
    • Place of Presentation
      東京都
    • Related Report
      2010 Annual Research Report
  • [Presentation] 当院で経験した先天性巨大血小板性血小板減少症の5例2010

    • Author(s)
      坂入和豊
    • Organizer
      第11回日本検査血液学会学術集会
    • Place of Presentation
      東京都
    • Related Report
      2010 Annual Research Report
  • [Presentation] 先天性巨大血小板減少症の新規原因としてのITGA2BのR995W変異-3世代の家系報告-2010

    • Author(s)
      松原康策
    • Organizer
      第72回日本血液学会総会
    • Place of Presentation
      横浜市
    • Related Report
      2010 Annual Research Report
  • [Presentation] 日本人小児Auditory NeuropathyにおけるOTOF遺伝子解析と治療法選択2010

    • Author(s)
      松永達雄
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま市
    • Related Report
      2010 Annual Research Report
  • [Presentation] NHOネットワーク共同研究-先天性血小板減少症の診断ガイドライン作成に関する研究-2010

    • Author(s)
      國島伸治
    • Organizer
      第64回国立病院総合医学会
    • Place of Presentation
      福岡市
    • Related Report
      2010 Annual Research Report
  • [Presentation] R702C mutation of the MYH9 gene provokes impaired platelet formation, renal focal segmental glomerulosclerosis, and hearing disability in the mice model2010

    • Author(s)
      鈴木伸明
    • Organizer
      52^<nd> American Society for Hematology Annual Meeting
    • Place of Presentation
      Orlando, FL, USA.
    • Related Report
      2010 Annual Research Report
  • [Presentation] 先天性巨大血小板性血小板減少症家系において見いだした新規GPIIIa遺伝子変異2010

    • Author(s)
      國島伸治
    • Organizer
      第52回日本小児血液学会総会
    • Place of Presentation
      大阪市
    • Related Report
      2010 Annual Research Report
  • [Presentation] 先天性巨大血小板減少症の新規原因としてのITGA2BのR995W変異2010

    • Author(s)
      松原康策
    • Organizer
      第52回日本小児血液学会総会
    • Place of Presentation
      大阪市
    • Related Report
      2010 Annual Research Report
  • [Presentation] 慢性ITPの診断による脾摘後にBernard-Soulier症候群と診断された日系ブラジル人の1男児例2010

    • Author(s)
      合井久美子
    • Organizer
      第52回日本小児血液学会総会
    • Place of Presentation
      大阪市
    • Related Report
      2010 Annual Research Report
  • [Presentation] S96L遺伝子変異を認めたEpstein症候群の親子例2010

    • Author(s)
      村山静子
    • Organizer
      第52回日本小児血液学会総会
    • Place of Presentation
      大阪市
    • Related Report
      2010 Annual Research Report
  • [Presentation] 先天性巨大血小板症の鑑別診断-九州沖縄地域の特徴を含めて-2009

    • Author(s)
      國島伸治
    • Organizer
      日本検査血液学会沖縄支部第7回学術集会
    • Place of Presentation
      那覇
    • Year and Date
      2009-12-05
    • Related Report
      2010 Final Research Report
  • [Presentation] MYH9異常を認めた巨大血小板性血小板減少症の2例2009

    • Author(s)
      百名伸之
    • Organizer
      日本検査血液学会沖縄支部第7回学術集会
    • Place of Presentation
      那覇
    • Year and Date
      2009-12-05
    • Related Report
      2009 Annual Research Report
  • [Presentation] 先天性巨大血小板症の鑑別診断-九州沖縄地域の特徴を含めて-(教育講演)2009

    • Author(s)
      國島伸治
    • Organizer
      日本検査血液学会沖縄支部第7回学術集会
    • Place of Presentation
      那覇
    • Year and Date
      2009-12-05
    • Related Report
      2009 Annual Research Report
  • [Presentation] von Willebrand病type 2Bと巨大血小板症2009

    • Author(s)
      國島伸治
    • Organizer
      日本血栓止血学会学術標準化委員会第4回SSCシンポジウム
    • Place of Presentation
      東京
    • Year and Date
      2009-11-21
    • Related Report
      2010 Final Research Report 2009 Annual Research Report
  • [Presentation] メイ・ヘグリン異常の原因遺伝子の同定、鑑別診断法の確立と新規疾患概念の提唱2009

    • Author(s)
      國島伸治
    • Organizer
      愛知県臨床衛生検査技師会遺伝子染色体検査研究班例会
    • Place of Presentation
      名古屋
    • Year and Date
      2009-11-14
    • Related Report
      2010 Final Research Report 2009 Annual Research Report
  • [Presentation] 小児の先天性血小板減少症2009

    • Author(s)
      國島伸治
    • Organizer
      第23回滋賀小児感染症・血液疾患研究会
    • Place of Presentation
      大津
    • Year and Date
      2009-10-31
    • Related Report
      2010 Final Research Report
  • [Presentation] 鼻出血を繰り返す2歳女児の一例2009

    • Author(s)
      服部有香
    • Organizer
      第23回滋賀小児感染症・血液疾患研究会
    • Place of Presentation
      大津
    • Year and Date
      2009-10-31
    • Related Report
      2009 Annual Research Report
  • [Presentation] 小児の先天性血小板減少症(特別講演)2009

    • Author(s)
      國島伸治
    • Organizer
      第23回滋賀小児感染症・血液疾患研究会
    • Place of Presentation
      大津
    • Year and Date
      2009-10-31
    • Related Report
      2009 Annual Research Report
  • [Presentation] 先天性血小板減少症の鑑別診断2009

    • Author(s)
      國島伸治
    • Organizer
      第26回北海道小児血液研究会
    • Place of Presentation
      札幌
    • Year and Date
      2009-10-17
    • Related Report
      2010 Final Research Report
  • [Presentation] 先天性血小板減少症の鑑別診断(特別講演)2009

    • Author(s)
      國島伸治
    • Organizer
      第26回北海道小児血液研究会
    • Place of Presentation
      札幌
    • Year and Date
      2009-10-17
    • Related Report
      2009 Annual Research Report
  • [Presentation] 左視床梗塞を来したMay-Hegglin異常症の1例2009

    • Author(s)
      長山成美
    • Organizer
      第209回日本内科学会北陸地方会例会
    • Place of Presentation
      金沢
    • Year and Date
      2009-09-06
    • Related Report
      2009 Annual Research Report
  • [Presentation] Congenital amegakaryocytic thrombocytopenia.2009

    • Author(s)
      國島伸治
    • Organizer
      16^<th> Annual Meeting of the Japan Childhood Aplastic Anemia Study Group.
    • Place of Presentation
      Nagoya
    • Year and Date
      2009-05-30
    • Related Report
      2010 Final Research Report
  • [Presentation] Congenital amegakaryotcytic thrombocytopenia2009

    • Author(s)
      Shinji Kunishima
    • Organizer
      16^<th> Annual Meeting of the Japan Childhood Aplastic Anemia Study Group
    • Place of Presentation
      名古屋
    • Year and Date
      2009-05-30
    • Related Report
      2009 Annual Research Report
  • [Presentation] GPIBβ遺伝子に複合ヘテロ変異を特つベルナール・スーリエ症候群の1例2009

    • Author(s)
      市川俊
    • Organizer
      第15回九州山口小児血液・腫瘍研究会
    • Place of Presentation
      鹿児島
    • Year and Date
      2009-05-23
    • Related Report
      2009 Annual Research Report
  • [Presentation] MYH9異常を認めた巨大血小板性血小板減少症の1家系2009

    • Author(s)
      百名伸之
    • Organizer
      第15回九州山口小児血液・腫瘍研究会
    • Place of Presentation
      鹿児島
    • Year and Date
      2009-05-23
    • Related Report
      2009 Annual Research Report
  • [Presentation] 先天性巨大血小板症の新たな原因GPIIb R995W変異2009

    • Author(s)
      國島伸治
    • Organizer
      第10回日本検査血液学会学術集会
    • Place of Presentation
      甲府
    • Related Report
      2010 Final Research Report 2009 Annual Research Report
  • [Presentation] A heterozygous ITGA2BR995W mutation causes constitutive activation of theαIIbβ3receptor and results in congenital macrothrombocytopenia2009

    • Author(s)
      國島伸治
    • Organizer
      XXII Congress of the International Society on Thrombosis and Haemostasis.
    • Place of Presentation
      Boston, MA, USA
    • Related Report
      2010 Final Research Report
  • [Presentation] GPIbβ点変異と22q11.2欠失との複合ヘテロ型異常によるBernard-Soulier症候群2009

    • Author(s)
      國島伸治
    • Organizer
      第51回日本小児血液学会総会
    • Place of Presentation
      千葉
    • Related Report
      2010 Final Research Report 2009 Annual Research Report
  • [Presentation] MYH9 R702変異を有するEpstein症候群9例の臨床、病理学的解析2009

    • Author(s)
      関根孝司
    • Organizer
      第52回日本腎臓学会学術総会
    • Place of Presentation
      横浜
    • Related Report
      2009 Annual Research Report
  • [Presentation] αIIb(R995W)変異を認めた先天性巨大血小板性血小板減少症例におけるαIIbβ3活性化に関する検討2009

    • Author(s)
      柏木浩和
    • Organizer
      第32回日本血栓止血学会学術集会
    • Place of Presentation
      北九州
    • Related Report
      2009 Annual Research Report
  • [Presentation] GPIbβ遺伝子に複合ヘテロ変異を持つベルナール・スーリエ症候群の1例2009

    • Author(s)
      市川俊
    • Organizer
      第32回日本血栓止血学会学術集会
    • Place of Presentation
      北九州
    • Related Report
      2009 Annual Research Report
  • [Presentation] A heterozygous ITGA2B R995W mutation causes constitutive activation of the αIIbβ3 receptor and results in congenital macrothrombocytopenia2009

    • Author(s)
      Shinji Kunishima
    • Organizer
      XXII Congress of the International Society on Thrombosis and Haemostasis
    • Place of Presentation
      Boston, MA,USA
    • Related Report
      2009 Annual Research Report
  • [Presentation] A potential hot spot for unequal homologous recombination within exon 24 of the MYH9 gene2009

    • Author(s)
      Koji Miyazaki
    • Organizer
      XXII Congress of the International Society on Thrombosis and Haemostasis
    • Place of Presentation
      Boston, MA,USA
    • Related Report
      2009 Annual Research Report
  • [Presentation] MYH9異常症6症例の遺伝子解析2009

    • Author(s)
      青木卓已
    • Organizer
      第51回日本平滑筋学会総会
    • Place of Presentation
      名古屋
    • Related Report
      2009 Annual Research Report
  • [Presentation] May-Hegglin異常を合併した維持透析患者の一例2009

    • Author(s)
      石田良
    • Organizer
      第39回日本腎臓学会西部学術総会
    • Place of Presentation
      和歌山
    • Related Report
      2009 Annual Research Report
  • [Presentation] びまん性大細胞型B細胞性リンパ腫におけるp57KIP2遺伝子DNAメチル化を指標とした微小残存病変の検出2009

    • Author(s)
      萩原和美
    • Organizer
      第71回日本血液学会総会
    • Place of Presentation
      京都
    • Related Report
      2009 Annual Research Report
  • [Presentation] MYH9異常を認めた巨大血小板性血小板減少症の1家系2009

    • Author(s)
      百名伸之
    • Organizer
      第51回日本小児血液学会総会
    • Place of Presentation
      千葉
    • Related Report
      2009 Annual Research Report
  • [Presentation] 血小板異常症についての話題2008

    • Author(s)
      國島伸治
    • Organizer
      第9回東海KOAG研究会
    • Place of Presentation
      名古屋
    • Year and Date
      2008-09-11
    • Related Report
      2010 Final Research Report
  • [Presentation] 血小板異常症についての話題 (特別講演)2008

    • Author(s)
      國島伸治
    • Organizer
      第9回東海KOAG研究会
    • Place of Presentation
      名古屋
    • Year and Date
      2008-09-11
    • Related Report
      2008 Annual Research Report
  • [Presentation] 古くて新しい病気May-Hegglin異常-新しい検査と新しい概念-2008

    • Author(s)
      國島伸治
    • Organizer
      第27回日本臨床検査医学会東海北陸支部例会
    • Place of Presentation
      浜松
    • Year and Date
      2008-08-31
    • Related Report
      2010 Final Research Report
  • [Presentation] 古くて新しい病気 May-Hegglin 異常-新しい検査と新しい概念-(シンポジウム)2008

    • Author(s)
      國島伸治
    • Organizer
      第27回日本臨床検査医学会東海北陸支部例会
    • Place of Presentation
      浜松
    • Year and Date
      2008-08-31
    • Related Report
      2008 Annual Research Report
  • [Presentation] May-Hegglin異常の新規鑑別診断法2008

    • Author(s)
      國島伸治
    • Organizer
      第9回日本検査血液学会学術集会
    • Place of Presentation
      津
    • Related Report
      2010 Final Research Report
  • [Presentation] Differential diagnosis of macrothrombocytopenias.2008

    • Author(s)
      國島伸治
    • Organizer
      The XXXIInd World Congress of the International Societyof Hematology
    • Place of Presentation
      Bangkok, Thailand
    • Related Report
      2010 Final Research Report
  • [Presentation] MYH9遺伝子exon1に2種類の新規遺伝子変異を同時に認めたMay-Hegglin異常の1例2008

    • Author(s)
      國島伸治
    • Organizer
      第70回日本血液学会総会
    • Place of Presentation
      京都
    • Related Report
      2010 Final Research Report
  • [Presentation] 新たな先天性巨大血小板症の原因となるインテグリンαIIb変異2008

    • Author(s)
      國島伸治
    • Organizer
      第70回日本血液学会総会
    • Place of Presentation
      京都
    • Related Report
      2010 Final Research Report 2008 Annual Research Report
  • [Presentation] Differential diagnosis of macrothrombocytopenias.2008

    • Author(s)
      國島伸治
    • Organizer
      The XXXIInd World Congress of the International Society of Hematology.
    • Place of Presentation
      Bangkok, Thailand
    • Related Report
      2010 Final Research Report
  • [Presentation] May-Hegglin 異常の新規鑑別診断法(シンポジウム 血小板関連疾患の病態と診断の進歩)2008

    • Author(s)
      國島伸治
    • Organizer
      第9回日本検査血液学会学術集会
    • Place of Presentation
      津
    • Related Report
      2008 Annual Research Report
  • [Presentation] MYH9遺伝子 exon 1に2種類の新規遺伝子変異を同時に認めた May-Hegglin 異常の1例2008

    • Author(s)
      宮島雄二
    • Organizer
      第70回日本血液学会総会
    • Place of Presentation
      京都
    • Related Report
      2008 Annual Research Report
  • [Presentation] 慢性ITPの経過中に診断されたMYH9遺伝子変異を認めた Epstein 症候群の1例2008

    • Author(s)
      金井理恵
    • Organizer
      第50回日本小児血液学会総会
    • Place of Presentation
      千葉
    • Related Report
      2008 Annual Research Report
  • [Presentation] Exon 24にまれな欠失変異を認めたMYH9異常症の2例2008

    • Author(s)
      宮崎浩二
    • Organizer
      第31回日本血栓止血学会学術集会
    • Place of Presentation
      大阪
    • Related Report
      2008 Annual Research Report
  • [Presentation] Differential diagnosis of macrothrombocytopenias (Symposium)2008

    • Author(s)
      Shinji Kunishima
    • Organizer
      The XXXIInd World Congress of the International Society of Hematology
    • Place of Presentation
      Bangkok, Thailand
    • Related Report
      2008 Annual Research Report
  • [Book] Gray platelet t症候群.小児科診療(増刊号小児の症候群)(東京都)2009

    • Author(s)
      國島伸治
    • Total Pages
      261
    • Publisher
      診断と治療社
    • Related Report
      2010 Final Research Report
  • [Book] 先天性血小板減少症:May-Hegglin n異常.新しい診断・治療のABC Cシリーズ63「血小板減少症・増多症」(池田康夫編集)(最新医学別冊)(大阪)2009

    • Author(s)
      國島伸治
    • Publisher
      最新医学社
    • Related Report
      2010 Final Research Report
  • [Remarks] ホームページ等

    • URL

      http://www.nnh.go.jp

    • Related Report
      2010 Final Research Report
  • [Remarks]

    • URL

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

    • Related Report
      2010 Annual Research Report
  • [Remarks]

    • URL

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

    • Related Report
      2009 Annual Research Report
  • [Remarks]

    • URL

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

    • Related Report
      2008 Annual Research Report

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Published: 2008-04-01   Modified: 2016-04-21  

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