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Analysis of Primary Immunodeficiency Syndromes using model mice.

Research Project

Project/Area Number 20790731
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionHiroshima University

Principal Investigator

OKADA Satoshi  Hiroshima University, 病院, 病院助教 (80457241)

Project Period (FY) 2008 – 2009
Project Status Completed (Fiscal Year 2009)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2009: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2008: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Keywords免疫学 / 遺伝子 / 疾患モデルマウス / ELA2 / 重症先天性好中球減少症
Research Abstract

We tried to generate Severe Congenital Neutropenia (SCN) model mouse. We produced wild-type (WT), P110L, R101Q and C194X ELA2 by PCR-based mutagenesis and introduced them into retrovirus Tet-on gene expression vector. We performed gene expression experiment by using HEK293 cells. Although ELA2 expression was observed, we could not analyze them because the ELA2 introduced cells result in cell death. Now, we are trying to control ELA2 expression level by control the concentration of doxycycline. After that, we are planning generate SCN model mouse by BM reconstitution using CD34 positive cells from human cord blood.

Report

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

    (36 results)

All 2010 2009 2008

All Journal Article (21 results) (of which Peer Reviewed: 14 results) Presentation (13 results) Book (2 results)

  • [Journal Article] Clinical characteristics of perinatal lethal hypophosphatasia: A report of 6 cases2010

    • Author(s)
      Nakamura-Utsunomiya A, Okada S, Hara K, Miyagawa S, Takeda K, Fukuhara R, Nakata Y, Hayashidani M, Tachikawa K, Michigami T, Ozono K, Kobayashi M
    • Journal Title

      Clinical Pediatric Endocrinology (in press)

    • NAID

      10031199603

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Clinical characteristics of perinatal lethal hypophosphatasia : A report of 6 cases.2010

    • Author(s)
      Nakamura-Utsunomiya A, Okada S, et al.
    • Journal Title

      Clinical Pediatric Endocrinology (in press)

    • NAID

      10031199603

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation2009

    • Author(s)
      Okada S, Konishi N, Tsumura M, Shirao K, Yasunaga S, Sakai H, Nishikomori R, Takihara Y, Kobayashi M
    • Journal Title

      Rheumatology 48

      Pages: 706-707

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] 先天性好中球減少症2009

    • Author(s)
      岡田賢, 石川暢恒, 小林正夫
    • Journal Title

      小児科 50

      Pages: 1146-1151

    • Related Report
      2009 Final Research Report
  • [Journal Article] 新規ETHE1遺伝子変異を認めたエチルマロン酸脳症の1例2009

    • Author(s)
      大坪善数, 白尾謙一郎, 岡田賢, 但馬剛, 佐倉伸夫, 楠本隆, 青木幹弘, 中下誠郎
    • Journal Title

      小児科学会雑誌 113

      Pages: 739-744

    • NAID

      10024843325

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] 重症先天性好中球減少症の分子病態2009

    • Author(s)
      小林正夫, 岡田賢, 溝口洋子
    • Journal Title

      分子細胞治療 8

      Pages: 110-116

    • Related Report
      2009 Annual Research Report 2009 Final Research Report
  • [Journal Article] Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD152009

    • Author(s)
      Okada S, et al.
    • Journal Title

      Rheumatology. 48

      Pages: 706-707

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 新規ETHE1遺伝子異を認めたエチルマロン酸脳症の1例2009

    • Author(s)
      大坪善数, 白尾謙一郎, 岡田賢, 他
    • Journal Title

      小児科学会雑誌 113

      Pages: 739-744

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 先天性好中球減少症2009

    • Author(s)
      岡田賢, 他
    • Journal Title

      小児科 50

      Pages: 1146-1151

    • Related Report
      2009 Annual Research Report
  • [Journal Article] Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene2008

    • Author(s)
      Ishikawa N, Okada S (equally contributed), Miki M, Shirao K, Kihara H, Tsumura M, Nakamura K, Kawaguchi H, Ohtsubo M, Yasunaga S, Matsubara K, Sako M, Hara J, Shiohara M, Kojima S, Takihara Y, Kobayashi M
    • Journal Title

      J Med Genet 45

      Pages: 802-807

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity2008

    • Author(s)
      Ohtsubo M, Yasunaga S, Ohno Y, Tsumura M, Okada S, Ishikawa N, Shirao K, Kikuchi A, Nishitani H, Kobayashi M, Takihara Y
    • Journal Title

      Proc Natl Acad Sci USA 105

      Pages: 10396-10401

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Development of a new enzymatic diagnosis method for very-long-chain acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan2008

    • Author(s)
      Tajima G, Sakura N, Shirao K, Okada S, Tsumura M, Nishimura Y, Ono H, Hasegawa Y, Hata I, Naito E, Yamaguchi S, Shigematsu Y, Kobayashi M
    • Journal Title

      Pediatr Res 64

      Pages: 667-672

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] 非結核性抗酸菌による多発性骨髄炎を呈したインターフェロンγ受容体1異常症の2例2008

    • Author(s)
      岡田賢, 末永麻由美, 川口浩史, 小林正夫
    • Journal Title

      小児科学会雑誌 112

      Pages: 1818-1825

    • NAID

      10024842949

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] 慢性肉芽腫症と他の好中球殺菌能異常2008

    • Author(s)
      岡田賢, 水上智之, 布井博幸, 小林正夫
    • Journal Title

      小児内科増刊号 40

      Pages: 1336-1347

    • Related Report
      2009 Final Research Report
  • [Journal Article] 好中球異常による先天性免疫不全症2008

    • Author(s)
      岡田賢, 津村弥来, 小林正夫
    • Journal Title

      小児科臨床 61

      Pages: 1791-1797

    • Related Report
      2009 Final Research Report
  • [Journal Article] Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity2008

    • Author(s)
      Ohtsubo M, et.al.
    • Journal Title

      Proc. Natl. Acad. Sci. 105

      Pages: 10396-10401

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene2008

    • Author(s)
      Ishikawa N, Okada S, et.al.
    • Journal Title

      J. Med. Genet. 45

      Pages: 802-807

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Development of a new enzymatic diagnosis method for very-long-chain acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan2008

    • Author(s)
      Tajima G, Sakura N, Shirao K, Okada S, et.al.
    • Journal Title

      Pediatr Res. 64

      Pages: 667-672

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 非結核性抗酸菌による多発性骨髄炎を呈したインターフェロンγ受容体1異常症の2例2008

    • Author(s)
      岡田賢, 他
    • Journal Title

      小児科学会雑誌 112

      Pages: 1818-1825

    • NAID

      10024842949

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 慢性肉芽腫症と他の好中球殺菌能異常2008

    • Author(s)
      岡田賢, 他
    • Journal Title

      小児内科増刊号 40

      Pages: 1336-1347

    • Related Report
      2008 Annual Research Report
  • [Journal Article] 好中球異常による先天性免疫不全症2008

    • Author(s)
      岡田賢, 他
    • Journal Title

      小児科臨床 61

      Pages: 1791-1797

    • Related Report
      2008 Annual Research Report
  • [Presentation] Congenital Neutropenia in Japan2010

    • Author(s)
      Okada S
    • Organizer
      The 2nd Symposium for PID in Asia
    • Place of Presentation
      Chiba
    • Year and Date
      2010-05-02
    • Related Report
      2009 Annual Research Report 2009 Final Research Report
  • [Presentation] A novel splicing mutation in NEMO gene in a patient with X-linked ectodermal dysplasia with immunodeficiency2009

    • Author(s)
      Karakawa S, Okada S, et al
    • Organizer
      51th ASH annual meeting
    • Place of Presentation
      New Orleans, USA
    • Year and Date
      2009-12-06
    • Related Report
      2009 Annual Research Report 2009 Final Research Report
  • [Presentation] 重症先天性好中球減少症, 周期性好中球減少症におけるELA2解析2009

    • Author(s)
      岡田賢, 他
    • Organizer
      第71回日本血液学会
    • Place of Presentation
      京都
    • Year and Date
      2009-10-25
    • Related Report
      2009 Final Research Report
  • [Presentation] 先天性好中球減少症と血液腫瘍2009

    • Author(s)
      岡田賢, 他
    • Organizer
      第71回日本血液学会
    • Place of Presentation
      京都
    • Year and Date
      2009-10-25
    • Related Report
      2009 Final Research Report
  • [Presentation] 重症先天性好中球少症,周期性好中球減少症におけるELLA2解析2009

    • Author(s)
      岡田賢, 他
    • Organizer
      第71回日本血液学会
    • Place of Presentation
      京都
    • Year and Date
      2009-10-25
    • Related Report
      2009 Annual Research Report
  • [Presentation] 先天性好中球減少圧と血液瘍2009

    • Author(s)
      岡田賢, 他
    • Organizer
      第71回日本血液学会
    • Place of Presentation
      京都
    • Year and Date
      2009-10-25
    • Related Report
      2009 Annual Research Report
  • [Presentation] Follow-Up of 27 patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for Clinical Course. ENDO 20092009

    • Author(s)
      Nakamura A, Okada S, et al
    • Organizer
      The 91nd Annual Meeting & Expo
    • Place of Presentation
      Washington, USA
    • Year and Date
      2009-06-11
    • Related Report
      2009 Final Research Report
  • [Presentation] Follow-Up of 27 patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency : Relevance of Genotype for Clinical Course2009

    • Author(s)
      Nakamura A, Okada S, et al
    • Organizer
      ENDO 2009 : The 91nd Annual Meeting & Expc
    • Place of Presentation
      Washington, USA
    • Year and Date
      2009-06-11
    • Related Report
      2009 Annual Research Report
  • [Presentation] Novel Heterozygous Mutation 572insA in TACI Identified in a Patient with Selective IgA Deficiency2008

    • Author(s)
      Okada S, et al
    • Organizer
      50th ASH annual meeting
    • Place of Presentation
      San Francisco, USA
    • Year and Date
      2008-12-06
    • Related Report
      2009 Final Research Report
  • [Presentation] Novel Heterozygous Mutation 572 insA in TACI Identified in a Patient with Selective IgA Deficiency2008

    • Author(s)
      Okada S, et.al.
    • Organizer
      50th ASH annual meeting
    • Place of Presentation
      San Francisco, USA
    • Year and Date
      2008-12-06
    • Related Report
      2008 Annual Research Report
  • [Presentation] 重症先天性好中球減少症の遺伝子解析2008

    • Author(s)
      岡田賢, 他
    • Organizer
      第70回日本血液学会
    • Place of Presentation
      京都
    • Year and Date
      2008-10-11
    • Related Report
      2009 Final Research Report
  • [Presentation] 重症先天性好中球減少症の遺伝子解析2008

    • Author(s)
      岡田賢, 他
    • Organizer
      第70回日本血液学会, 第50回日本臨床血液学会
    • Place of Presentation
      京都
    • Year and Date
      2008-10-11
    • Related Report
      2008 Annual Research Report
  • [Presentation] 重症先天性好中球減少症の遺伝子解析2008

    • Author(s)
      岡田賢, 他
    • Organizer
      第111回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2008-04-27
    • Related Report
      2009 Final Research Report 2008 Annual Research Report
  • [Book] 骨髄不全症候群とリボソームの異常, Annual Review血液20102010

    • Author(s)
      岡田賢, 他
    • Publisher
      中外医学社
    • Related Report
      2009 Final Research Report
  • [Book] Annual Review 血液20102010

    • Author(s)
      岡田賢, 他
    • Publisher
      中外医学社
    • Related Report
      2009 Annual Research Report

URL: 

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

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