• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Molecular evolutionary genetics analysis and elucidation of pathogenic mechanism of GNAS related imprinting disease

Research Project

Project/Area Number 26461537
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionHamamatsu University School of Medicine (2016-2017)
National Center for Child Health and Development (2014-2015)

Principal Investigator

Sano Shinichiro  浜松医科大学, 医学部, 協定訪問共同研究員 (60535574)

Co-Investigator(Kenkyū-buntansha) 鏡 雅代  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, 室長 (70399484)
Project Period (FY) 2014-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords偽性副甲状腺機能低下症 / GNAS / インプリンティング / GNAS遺伝子 / GNASメチル化異常 / GNAS構造異常 / GNAS遺伝子変異 / GNAS-DMRメチル化異常 / GNAS-DMRメチル化異常 / AHO徴候
Outline of Final Research Achievements

We accumulated more than 80 clinical history of PHP patients and performed molecular analysis in 70 cases of them. During the research period, we published some papers as follows:
Sano S, et al., Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. Endocr J 62(6), 523-529(2015); Nakamura A, Sano S, se al., Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b. J Clin Endcocrinol Metab 101(7), 2623-2627, (2016); Sano S, et al., Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?. J Hum Genet 61(8), 765-769, (2016); Sano S., et al., (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I J Endocr Soc, 2(1),9-23, (2018)

Report

(5 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • 2014 Research-status Report
  • Research Products

    (16 results)

All 2018 2017 2016 2015 2014

All Journal Article (6 results) (of which Peer Reviewed: 6 results,  Open Access: 3 results,  Acknowledgement Compliant: 1 results) Presentation (9 results) Book (1 results)

  • [Journal Article] A de novo 50-bp <b><i>GNAS</i></b> Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a2017

    • Author(s)
      Suzuki Erina、Bo Ryosuke、Sue Kaori、Awano Hiroyuki、Ogata Tsutomu、Narumi Satoshi、Kagami Masayo、Sano Shinichiro、Fukami Maki
    • Journal Title

      Cytogenetic and Genome Research

      Volume: 153 Issue: 3 Pages: 125-130

    • DOI

      10.1159/000485644

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I2017

    • Author(s)
      Sano Shinichiro、Nakamura Akie、Matsubara Keiko、Nagasaki Keisuke、Fukami Maki、Kagami Masayo、Ogata Tsutomu
    • Journal Title

      J Endocr Soc

      Volume: 2 Issue: 1 Pages: 9-23

    • DOI

      10.1210/js.2017-00293

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.2016

    • Author(s)
      Goto M, Sano S, et al
    • Journal Title

      Pediatr Int

      Volume: 58 Issue: 11 Pages: 1229-1231

    • DOI

      10.1111/ped.13096

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.2016

    • Author(s)
      Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, Fukami M.
    • Journal Title

      J Clin Endocrinol Metab

      Volume: 101(7) Issue: 7 Pages: 2623-7

    • DOI

      10.1210/jc.2016-1725

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus methylation defects: a female-dominant phenomenon?2016

    • Author(s)
      Shinichiro Sano
    • Journal Title

      Journal of Human Genetics

      Volume: 未定 Issue: 8 Pages: 765-9

    • DOI

      10.1038/jhg.2016.45

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib.2015

    • Author(s)
      Shinicihro Sano
    • Journal Title

      Endocrine Jouranal

      Volume: 未定

    • NAID

      130005085768

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] PHPにおける(エピ)遺伝子型ー表現型解析2018

    • Author(s)
      佐野伸一朗
    • Organizer
      第40回日本小児遺伝学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Beckwith-Wiedemann syndromeとPHP-Ib の臨床像を呈したMultilocus imprinting disturbance の女児例2017

    • Author(s)
      佐野伸一朗
    • Organizer
      第90回日本内分泌学会学術総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] PHPにおける(epi)genotype-phenotype correlationの検討2017

    • Author(s)
      佐野伸一朗
    • Organizer
      第51回日本小児内分泌学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 偽性副甲状腺機能低下症の69例における(エピ)遺伝子型ー表現型解析2017

    • Author(s)
      佐野伸一朗
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with Multilocus methylation disturbance2016

    • Author(s)
      Shinichiro Sano
    • Organizer
      The 9th Biennial scientific meeting of the Asia Pacific Paediatric Endocrine Society
    • Place of Presentation
      Tokyo
    • Year and Date
      2016-11-17
    • Related Report
      2016 Research-status Report
  • [Presentation] 偽性副甲状腺機能低下症における分子遺伝学的分類に基づいたTSH抵抗性に関する検2016

    • Author(s)
      佐野伸一朗
    • Organizer
      第49回日本内分泌学会学術集会
    • Place of Presentation
      タワーホール船堀
    • Year and Date
      2016-10-08
    • Related Report
      2015 Research-status Report
  • [Presentation] 先天性甲状腺機能低下症が先行した偽性副甲状腺機能低下症の臨床像2016

    • Author(s)
      佐野伸一朗
    • Organizer
      第16回日本内分泌学会東海支部学術集会
    • Place of Presentation
      静岡県浜松市
    • Year and Date
      2016-09-10
    • Related Report
      2016 Research-status Report
  • [Presentation] Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with Multilocus methylation disturbance2016

    • Author(s)
      Shinichiro Sano
    • Organizer
      The 13th International Congress of Human Genetics
    • Place of Presentation
      Kyoto
    • Year and Date
      2016-04-03
    • Related Report
      2016 Research-status Report
  • [Presentation] 分子遺伝学的診断からみた偽性副甲状腺機能低下症の臨床的特徴2014

    • Author(s)
      佐野 伸一朗
    • Organizer
      第48会日本小児内分泌学会
    • Place of Presentation
      静岡県浜松市
    • Year and Date
      2014-09-25 – 2014-09-27
    • Related Report
      2014 Research-status Report
  • [Book] 医学のあゆみ2017

    • Author(s)
      佐野伸一朗
    • Total Pages
      70
    • Publisher
      医歯薬出版株式会社
    • Related Report
      2017 Annual Research Report

URL: 

Published: 2014-04-04   Modified: 2019-03-29  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi