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Role of IGF-1system in growth-functional analysis of Acid Labile Subunit(ALS) and IGF1R

Research Project

Project/Area Number 22790982
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionTottori University

Principal Investigator

KAWASHIMA Yuki  鳥取大学, 医学部附属病院, 助教 (20403412)

Project Period (FY) 2010 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2011: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2010: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Keywords小児内分泌学 / 小児科学
Research Abstract

We analysed the nucleotide sequences of the IGF1R gene of patient with idiopathic short stature, or SGA short stature, and that of ALS gene of short stature patient with low serum IGF1 level. Although we were not able to identify the mutation of ALS gene on those patients, we identified heterozygous mutation(p. Q1220X) of the IGF-1R gene in SGA short stature with high serum IGF-1 levels and poor response to GH treatment. This mutation site in tyrosine kinase domain results in the absence of carboxyl terminal fragment of IGF-1R after the mutation site(p. Q1220X). Since this lacked carboxyl fragment contains the important site for cell proliferation, we concluded this mutation resulted in IGF-1R dysfunction and short stature.

Report

(3 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • Research Products

    (11 results)

All 2012 2011 2010

All Journal Article (4 results) (of which Peer Reviewed: 3 results) Presentation (7 results)

  • [Journal Article] Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation2012

    • Author(s)
      Kawashima Y, Higaki K, Fukushima T, et al
    • Journal Title

      Clin Endocrinol(Oxf)

      Volume: (in press)

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Familial short stature with IGF-I receptor gene anomaly[Review]2012

    • Author(s)
      Kawashima Y, Takahashi S, Kanzaki S
    • Journal Title

      Endocr J

      Volume: 59巻 Pages: 179-185

    • NAID

      130004443791

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] SGAで出生した低身長児からみつかる遺伝子異常-最近までのIGF1受容体遺伝子異常症の進歩-2012

    • Author(s)
      鞁嶋有紀
    • Journal Title

      小児科臨床

      Volume: 65巻 Pages: 977-983

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Journal Article] Familial short stature with IGF-I receptor gene anomaly2012

    • Author(s)
      Kawashima Y, Takahashi S, Kanzaki S
    • Journal Title

      Endocr J

      Volume: 59(Review) Pages: 179-185

    • NAID

      10030748947

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Presentation] IGF-I受容体遺伝子に新規変異を認めたSGA性低身長の1例2012

    • Author(s)
      鞁嶋有紀
    • Organizer
      第85回日本内分泌学会学術総会
    • Place of Presentation
      名古屋国際会議場
    • Year and Date
      2012-04-19
    • Related Report
      2011 Final Research Report
  • [Presentation] IGF-I受容体遺伝子に新規変異を認めたSGA性低身長の1例2012

    • Author(s)
      鞁嶋有紀
    • Organizer
      第85回日本内分泌学会学術総会
    • Place of Presentation
      名古屋国際会議場(名古屋)
    • Year and Date
      2012-04-19
    • Related Report
      2011 Annual Research Report
  • [Presentation] IGF-I受容体遺伝子異常症の成長パターン-成長ホルモン投与例・未投与例の検討2011

    • Author(s)
      鞁嶋有紀
    • Place of Presentation
      大宮ソニックシティ(埼玉)
    • Year and Date
      2011-10-08
    • Related Report
      2011 Final Research Report
  • [Presentation] IGF-I受容体遺伝子異常症の成長パターン-成長ホルモン投与例・末投与例の検討2011

    • Author(s)
      鞁嶋有紀
    • Organizer
      第45回日本小児内分泌学会学術集会
    • Place of Presentation
      大宮ソニックシティ(埼玉)
    • Year and Date
      2011-10-07
    • Related Report
      2011 Annual Research Report
  • [Presentation] IGF-I受容体自己リン酸化障害によりSGA性低身長を呈したIGF-I受容体遺伝子異常症の1家系2010

    • Author(s)
      鞍嶋有紀
    • Organizer
      第44回日本小児内分泌学会学術集会
    • Place of Presentation
      大阪市中央公会堂(大阪府)
    • Year and Date
      2010-10-09
    • Related Report
      2010 Annual Research Report
  • [Presentation] Mutated IGF-I receptor (D1105E) extinguish autophosphorylation : A family of short statare born intrauterine growth retardation bearing a novel missense mutation of the IGF-I receptor.2010

    • Author(s)
      鞍嶋有紀
    • Organizer
      The 5^<th> international congress of the GRS and IGF society
    • Place of Presentation
      Sheration New York Hotel(米国)
    • Year and Date
      2010-10-05
    • Related Report
      2010 Annual Research Report
  • [Presentation] Mutated IGF-I receptor (D1105E) extinguish autophosphorylation : A family of short stature born intrauterine growth retardation bearing a novel missense mutation of the IGF-I receptor.2010

    • Author(s)
      鞍嶋有紀
    • Organizer
      第92回米国内分泌学会
    • Place of Presentation
      サンディエゴコンベンションセンター、米国
    • Year and Date
      2010-06-20
    • Related Report
      2010 Annual Research Report

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Published: 2010-11-30   Modified: 2016-04-21  

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