Hori Ikumi 堀いくみ

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HORI IKUMI 堀いくみ

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Researcher Number	00745929
Other IDs
Affiliation (Current)	2025: 名古屋市立大学, 医薬学総合研究院(医学), 研究員
Affiliation (based on the past Project Information) *help	2020 – 2021: 名古屋市立大学, 医薬学総合研究院(医学), 研究員 2019: 名古屋市立大学, 医薬学総合研究院(医学), 臨床研究医
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords	Principal Investigator 逆行性輸送 / in situ hybridization法 / RT-PCR法 / 父性発現遺伝子 / CRISPR/Cas9 / ゲノムインプリンティング / MAGEL2 / Schaaf-Yang症候群

Research Projects
(1 results)
Research Products
(5 results)

The development of the molecular mechanism and treatment methods of Schaaf-Yang syndrome focusing on protein transport disordersPrincipal Investigator
- Principal Investigator
  
  HORI IKUMI
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Nagoya City University

All 2021 2020

All Journal Article Presentation

[Journal Article] Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant2021
- Author(s)
  Hori Ikumi、Ieda Daisuke、Ito Shogo、Ebe Seimi、Nakamura Yuji、Ohashi Kei、Aoyama Kohei、Hattori Ayako、Kokubo Minoru、Saitoh Shinji
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 4 Pages: 590-595
- DOI
  10.1016/j.braindev.2020.12.008
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17308, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-20H03646
[Journal Article] Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome2020
- Author(s)
  Yamada Hiroyuki、Tamasaki Akiko、Oguri Masayoshi、Hori Ikumi、Saitoh Shinji、Maegaki Yoshihiro
- Journal Title
  
  Epileptic Disorders
  
  Volume: 22 Issue: 5 Pages: 673-677
- DOI
  10.1684/epd.2020.1212
- NAID
  120006975634
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17308, KAKENHI-PROJECT-19K17362
[Journal Article] De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes2020
- Author(s)
  Kondo Yuto、Aoyama Kohei、Suzuki Hisato、Hattori Ayako、Hori Ikumi、Ito Koichi、Yoshida Aya、Koroki Mari、Ueda Kentaro、Kosaki Kenjiro、Saitoh Shinji
- Journal Title
  
  Human Genome Variation
  
  Volume: 7 Issue: 1 Pages: 19-19
- DOI
  10.1038/s41439-020-0107-1
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17308, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20H03646
[Presentation] 当院でエキソーム解析を実施した小児神経疾患症例の臨床的検討.2020
- Author(s)
  堀いくみ, 宮冬樹, 中島光子, 中村勇治, 家田大輔, 大橋圭, 根岸豊, 服部文子, 安藤直樹, 角田達彦, 才津浩智, 金村米博, 小崎健次郎, 齋藤伸治
- Organizer
  第62回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-19K17308
[Presentation] Mild Phenotypic features associated with non-truncating UBE3A mutations in Angelman syndrome.2020
- Author(s)
  Yuji Nakamura, Kana Hosoki, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Ayako Hattori, Shinji Saitoh
- Organizer
  第62回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-19K17308

Hori Ikumi 堀 いくみ

HORI IKUMI 堀 いくみ

Research Projects

Research Products

The development of the molecular mechanism and treatment methods of Schaaf-Yang syndrome focusing on protein transport disordersPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome2020

Author(s)

Journal Title

DOI

NAID

Data Source

[Journal Article] De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes2020

Author(s)

Journal Title

DOI

Data Source

[Presentation] 当院でエキソーム解析を実施した小児神経疾患症例の臨床的検討.2020

Author(s)

Organizer

Data Source

[Presentation] Mild Phenotypic features associated with non-truncating UBE3A mutations in Angelman syndrome.2020

Author(s)

Organizer

Data Source

Hori Ikumi 堀いくみ

HORI IKUMI 堀いくみ