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Elucidation of pathogenicity and development of new treatment for Frasier syndrome

Research Project

Project/Area Number 18K15713
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 52050:Embryonic medicine and pediatrics-related
Research InstitutionKobe University

Principal Investigator

Nagano China  神戸大学, 医学研究科, 特命助教 (60814316)

Project Period (FY) 2018-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
KeywordsFrasier症候群 / WT1 / スプライシング / アンチセンス治療薬
Outline of Final Research Achievements

Frasier's syndrome is characterized by slowly progressive glomerulopathy, pseudohermaphroditism and Wilms' and gonadal tumors. There is no specific treatment exists until now.
Therefore, in this study, we determined the incidence of Frasier syndrome in Japanese, and examined the genotype-phenotype correlation according to the variant. We also conducted experiments to develop new treatments using antisense drugs.

Academic Significance and Societal Importance of the Research Achievements

これまで、Frasier症候群に関して、性分化異常やWilms腫瘍の発症頻度など臨床的特徴に関する検討は海外においていくつか報告されているが、そのスプライシング異常に注目した発症機序の解明および治療法の開発に関しては、これまで一切検討されてこなかった。今回の研究においては、近年大変注目されており、また私たちの研究室でその研究の専門的知識と技術が確立しているアンチセンス治療薬を用いた新規治療法の開発であり、Frasier症候群における腎症状の進行抑制を来すことが出来る画期的な研究である。

Report

(3 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • Research Products

    (5 results)

All 2020 2019 2018

All Journal Article (1 results) (of which Peer Reviewed: 1 results,  Open Access: 1 results) Presentation (4 results) (of which Int'l Joint Research: 1 results)

  • [Journal Article] Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.2020

    • Author(s)
      Nagano C, Yamamura T, Horinouchi T, Aoto Y, Ishiko S, Sakakibara N, Shima Y, Nakanishi K, Nagase H, Iijima K, Nozu K.
    • Journal Title

      Sci Rep.

      Volume: 10(1) Issue: 1 Pages: 428-437

    • DOI

      10.1038/s41598-019-57149-5

    • NAID

      120006884200

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] 遺伝性ネフローゼ症候群における臨床的特徴の検討2019

    • Author(s)
      長野 智那
    • Organizer
      第54回日本小児腎臓病学会学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 遺伝性ネフローゼ症候群における臨床的特徴の検討2019

    • Author(s)
      長野 智那
    • Organizer
      第62回日本腎臓学会学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] Comprehensive genetic diagnosis system for steroid-resistant nephrotic syndrome in Japanese population2019

    • Author(s)
      長野 智那
    • Organizer
      International Pediartic Nephrology Association 2019
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] in vitro splicing assayを用いたFrasier症候群の臨床遺伝学的検討2018

    • Author(s)
      辻 ゆり佳
    • Organizer
      第53回 日本小児腎臓病学会学術集会
    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2021-02-19  

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