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Molecular genetic anlaysis of CASR gene

Research Project

Project/Area Number 26860715
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Endocrinology
Research InstitutionNational Center for Child Health and Development

Principal Investigator

Nakamura Akie  国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (90724708)

Project Period (FY) 2014-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywordsカルシウム / カルシウム異常症 / カルシウム感知受容体(CASR)
Outline of Final Research Achievements

To clarify the moleculr basis of calcium homeostasis, we performed mutation analysis for the genes associated with calcium homeostasis using next-generation sequencing . We identified novel CASR mutations in one familial case and one sporadic case with hypocalcemia. Furthermore, we found out novel pathotenic mutations in FAM111A, CLDN16 and GATA3. We also found out that complex genomic rearrangement within the GNAS region are associated with familial pseudohypoparathyoroidism type 1b.

Report

(3 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • Research Products

    (3 results)

All 2015

All Presentation (3 results)

  • [Presentation] 家族性偽牲副甲状腺機能低下症1b を招く新たなゲノム再構成の同定と成立機序の解明2015

    • Author(s)
      中村 明枝
    • Organizer
      第60回日本人類遺伝学会
    • Place of Presentation
      京王プラザホテル
    • Year and Date
      2015-10-14
    • Related Report
      2015 Annual Research Report
  • [Presentation] CLDN16遺伝子のミスセンス変異をヘテロ接合性に有する家族性高カルシウム尿症、腎石灰化症例2015

    • Author(s)
      中村明枝
    • Organizer
      第49回日本小児内分泌学会
    • Place of Presentation
      タワーホール船堀
    • Year and Date
      2015-10-08
    • Related Report
      2015 Annual Research Report
  • [Presentation] 家族性偽性副甲状腺機能低下症1bを招く新たなゲノム再構成の同定と成立機序の解明2015

    • Author(s)
      中村明枝
    • Organizer
      第49回日本小児内分泌学会
    • Place of Presentation
      タワーホール船堀
    • Year and Date
      2015-10-08
    • Related Report
      2015 Annual Research Report

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Published: 2014-04-04   Modified: 2017-05-10  

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