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

Yano Naoko  矢野 直子

ORCIDConnect your ORCID iD *help
Researcher Number 20985949
Other IDs
Affiliation (Current) 2026: 京都大学, 医学研究科, 客員研究員
Affiliation (based on the past Project Information) *help 2026: 京都大学, 医学研究科, 客員研究員
2023 – 2024: 京都大学, 医学研究科, 特定病院助教
Review Section/Research Field
Principal Investigator
Basic Section 52050:Embryonic medicine and pediatrics-related / 0902:General internal medicine and related fields
Keywords
Principal Investigator
Occipital Horn症候群 / Occipital Horn Syndrome / Occipital Horn syndrome / レトロトランスポゾン / ロングリードシーケンス
  • Research Projects

    (2 results)
  • Research Products

    (2 results)
  • Co-Researchers

    (2 People)
  •  ロングリード解析を用いた希少難病におけるレトロトランスポゾンの病因的役割の解明Principal Investigator

    • Principal Investigator
      矢野 直子
    • Project Period (FY)
      2026 – 2028
    • Research Category
      Grant-in-Aid for Early-Career Scientists
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Kyoto University
  •  Analysis of a novel SVA retrotransposon and Its potential disease association revealed by Long-Read SequencingPrincipal Investigator

    • Principal Investigator
      Yano Naoko
    • Project Period (FY)
      2023 – 2024
    • Research Category
      Grant-in-Aid for Research Activity Start-up
    • Review Section
      0902:General internal medicine and related fields
    • Research Institution
      Kyoto University

All 2024 2023

All Journal Article Presentation

  • [Journal Article] Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of<i>ATP7A</i>as a novel cause of occipital horn syndrome2024

    • Author(s)
      Yano Naoko、Chong Pin Fee、Kojima Kenji K、Miyoshi Tomoichiro、Luqman-Fatah Ahmad、Kimura Yu、Kora Kengo、Kayaki Taisei、Maizuru Kanako、Hayashi Takahiro、Yokoyama Atsushi、Ajiro Masahiko、Hagiwara Masatoshi、Kondo Teruyuki、Kira Ryutaro、Takita Junko、Yoshida Takeshi
    • Journal Title

      Journal of Medical Genetics

      Volume: 61 Issue: 10 Pages: 950-958

    • DOI

      10.1136/jmg-2024-110056

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K05356, KAKENHI-PROJECT-23K19588, KAKENHI-PROJECT-23K23863, KAKENHI-PROJECT-23K27379
  • [Presentation] The insertion of SVA retrotransposon in deep intron of ATP7A as a novel cause of occipital horn syndrome2023

    • Author(s)
      Naoko Yano
    • Organizer
      14th Asia Pacific Conference on Human Genetics (APCHG)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K19588
  • 1.  木村 祐
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 2.  近藤 輝幸
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

URL: 

Are you sure that you want to link your ORCID iD to your KAKEN Researcher profile?
* This action can be performed only by the researcher himself/herself who is listed on the KAKEN Researcher’s page. Are you sure that this KAKEN Researcher’s page is your page?

この研究者とORCID iDの連携を行いますか?
※ この処理は、研究者本人だけが実行できます。

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi