Hori Tomohiro 堀友博

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HORI Tomohiro 堀友博

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Researcher Number	90456525
Other IDs
Affiliation (Current)	2025: 岐阜大学, 大学院医学系研究科, 助教
Affiliation (based on the past Project Information) *help	2023: 岐阜大学, 大学院医学系研究科, 助教 2020 – 2022: 岐阜大学, 医学部附属病院, 助教 2014 – 2015: 岐阜大学, 医学部附属病院, 助教
Review Section/Research Field	Principal Investigator Basic Section 54040:Metabolism and endocrinology-related / Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics
Keywords	Principal Investigator A20ハプロ不全症 / A20 / 1型糖尿病 / TNFAIP3遺伝子 / ホスホリラーゼキナーゼ / 糖原病IX型 / 糖原病 / ケトン体代謝異常症 / 先天代謝異常症 / PHKA2遺伝子 … More / ケトン性低血糖症 / スプライシング / 遺伝学 / 選択的スプライシング / スプライシングオーダー Less

TNFAIP3遺伝子バリアントを導入した1型糖尿病疾患特異的モデル細胞の構築Principal Investigator
- Principal Investigator
  
  堀友博
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 54040:Metabolism and endocrinology-related
- Research Institution
  Gifu University
A study revealing that the p.G991A variant of the PHKA2 gene is one of the major causes of ketotic hypoglycemiaPrincipal Investigator
- Principal Investigator
  
  HORI Tomohiro
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Gifu University
Elucidation of a mechanism of tissue-specific alternative splicing by using analysis of splicing order.Principal Investigator
- Principal Investigator
  
  HORI Tomohiro
- Project Period (FY)
  2014 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Gifu University

All 2015 2014 Other

All Journal Article Presentation

[Journal Article] Inborn errors of ketone body utilization2015
- Author(s)
  Hori T, Yamaguchi S, Shintaku H, Horikawa R, Shigematsu Y, Hakayanagi M, Fukao T
- Journal Title
  
  Pediatr Int
  
  Volume: 57 Issue: 1 Pages: 51-48
- DOI
  10.1111/ped.12585
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591505, KAKENHI-PUBLICLY-26114708, KAKENHI-PROJECT-26860793
[Journal Article] The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.2014
- Author(s)
  Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, ShigematsuY, Hasegawa Y.
- Journal Title
  
  J Hum Genet
  
  Volume: 59 Issue: 11 Pages: 609-614
- DOI
  10.1038/jhg.2014.79
- NAID
  40020269650
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591505, KAKENHI-PROJECT-25504016, KAKENHI-PROJECT-26860793, KAKENHI-PROJECT-26860830
[Journal Article] Ketone body metabolism and its defects.2014
- Author(s)
  Fukao T, Mitchell G, Saas JO, Hori T, Orii K, Aoyama Y
- Journal Title
  
  J Inherited Metab Dis
  
  Volume: 37 Issue: 4 Pages: 541-551
- DOI
  10.1007/s10545-014-9704-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24591505, KAKENHI-PUBLICLY-26114708, KAKENHI-PROJECT-26860793
[Presentation] バセドウ病の治療経過中に発症した横紋筋融解症の女児例
- Author(s)
  堀友博，松本英樹，大塚博樹，桑原秀次，川本典生，深尾敏幸
- Organizer
  第48回日本小児内分泌学会学術集会
- Place of Presentation
  浜松
- Year and Date
  2014-09-25 – 2014-09-27
- Data Source
  KAKENHI-PROJECT-26860793

1. 深尾敏幸

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results

Hori Tomohiro 堀 友博

HORI Tomohiro 堀 友博

Research Projects

Research Products

Co-Researchers

TNFAIP3遺伝子バリアントを導入した1型糖尿病疾患特異的モデル細胞の構築Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

A study revealing that the p.G991A variant of the PHKA2 gene is one of the major causes of ketotic hypoglycemiaPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Elucidation of a mechanism of tissue-specific alternative splicing by using analysis of splicing order.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Inborn errors of ketone body utilization2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.2014

Author(s)

Journal Title

DOI

NAID

Data Source

[Journal Article] Ketone body metabolism and its defects.2014

Author(s)

Journal Title

DOI

Data Source

[Presentation] バセドウ病の治療経過中に発症した横紋筋融解症の女児例

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

Hori Tomohiro 堀友博

HORI Tomohiro 堀友博