Yamaguchi Tomomi 山口智美

Researcher Number	90802835
Other IDs
Affiliation (Current)	2025: 信州大学, 学術研究院医学系(医学部附属病院), 助教
Affiliation (based on the past Project Information) *help	2023 – 2024: 信州大学, 学術研究院医学系(医学部附属病院), 助教 2019 – 2022: 信州大学, 医学部附属病院, 助教(特定雇用)
Review Section/Research Field	Principal Investigator Basic Section 53050:Dermatology-related Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords	Principal Investigator エーラス・ダンロス症候群 / 分子遺伝学的発症機序 / 次世代シークエンス / 遺伝性結合組織疾患 / 血管型エーラス・ダンロス症候群 Except Principal Investigator 包括的病態解析 / iPS細胞 / マウスモデル / デルマタン硫酸 / 筋拘縮型エーラス・ダンロス症候群

エーラス・ダンロス症候群の分子遺伝学的発症機序の包括的解明Principal Investigator
- Principal Investigator
  
  山口智美
- Project Period (FY)
  2024 – 2027
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 53050:Dermatology-related
- Research Institution
  Shinshu University
Elucidation of pathomechanism for vascular Ehlers-Danlos syndrome using a comprehensive approachPrincipal Investigator
- Principal Investigator
  
  Yamaguchi Tomomi
- Project Period (FY)
  2019 – 2023
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 53050:Dermatology-related
- Research Institution
  Shinshu University
Integrated understanding of dermatan sulfate through uncovering pathophysiology of musculocontractural Ehlers-Danlos syndrome
- Principal Investigator
  
  Kosho Tomoki
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shinshu University

All 2023 2020 2019

All Journal Article Presentation

[Journal Article] Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next generation sequencing system.2023
- Author(s)
  Yamaguchi T, Hayashi S, Hayashi D, Matsuyama T, Koitabashi N, Ogiwara K, Noda M, Nakada C, Fujiki S, Furutachi A, Tanabe Y, Yamanaka M, Ishikawa A, Mizukami M, Mizuguchi A, Sugiura K, Sumi M, Yamazawa H, Izawa A, Wada Y, Fujikawa T, Takiguchi Y, Wakui K, Takano K, Nishio S, Kosho T.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 191 Issue: 1 Pages: 37-51
- DOI
  10.1002/ajmg.a.62982
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K08336, KAKENHI-PROJECT-19K17795, KAKENHI-PROJECT-22K10289, KAKENHI-PROJECT-23K07773
[Journal Article] Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system.2023
- Author(s)
  Yamaguchi T, Yamada K, Nagai S, Nishikubo T, Koitabashi N, Minami-Hori M, Matsushima M, Shibata Y, Ishiguro H, Sanai H, Fujikawa T, Takiguchi Y, Matsumoto KI, Kosho T.
- Journal Title
  
  Front Genet
  
  Volume: 14 Pages: 1234804-1234804
- DOI
  10.3389/fgene.2023.1234804
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K11339, KAKENHI-PROJECT-19K17795
[Journal Article] osterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported Cases.2020
- Author(s)
  Uehara M, Oba H, Hatakenaka T, Ikegami S, Kuraishi S, Takizawa T, Munakata R, Mimura T, Yamaguchi T, Kosho T, Takahashi J.
- Journal Title
  
  World Neurosurgery
  
  Volume: 143 Pages: 454-461
- DOI
  10.1016/j.wneu.2020.08.085
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K18532, KAKENHI-PROJECT-19H03616
[Presentation] Ion Torrentシステムにおけるコピー数異常検出法の有用性：遺伝性結合組織疾患関連遺伝子カスタムパネルに注目して2020
- Author(s)
  山口智美
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-19K17795
[Presentation] Intranasal desmopressin treatment for massive subcutaneous hematoma in five patients with musculocontractural Ehlers-Danlos syndrome2019
- Author(s)
  Kosho T, Fujita N, Ishikawa M, Kise E, Kojima T, Yamaguchi T, Minatogawa M, Nakamura K, Takano K.
- Organizer
  European Human Genetics Conference 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] Pathophysiological Inves-ga-on for Large Subcutaneous Hematomas of Ehlers-Danlos Syndrome Using Pa-ent Induced Pluripotent Stem Cells2019
- Author(s)
  YUe F, Sasaki K, Yamaguchi T, Kosho T
- Organizer
  Scientific Meeting on The Rare Types of Ehlers-Danlos Syndromes
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] Clinical Sequencing for Vascular Ehlers-Danlos Syndrome Using Panel-Based Next-Generation Sequencing2019
- Author(s)
  山口智美
- Organizer
  Scientific Meeting Rarer types of EDS
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17795
[Presentation] Clinical, biochemical, and pathological investigation of a patient with musculocontractural Ehlers-Danlos syndrome caused by a novel pathogenic variant in DSE2019
- Author(s)
  Minatogawa M, Mizumoto S, Hirose T, Yamaguchi T, Wakui K, Watanabe T, Yamada S, Kosho T.
- Organizer
  American Society of Human Genetics, Annual Meeting 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03616

1. Kosho Tomoki (90276311)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
2. 角田佳充 (00314360)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
3. 岡田尚巳 (00326828)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
4. 野村義宏 (10228372)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. 岳鳳鳴 (20532865)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
6. 松本健一 (30202328)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
7. 上原将志 (30748108)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
8. 水本秀二 (40443973)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
9. 三宅紀子 (40523494)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. 吉沢隆浩 (40713392)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. 渡邉敬文 (50598216)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
12. 高橋淳 (60345741)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
13. 宮田真路 (60533792)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. 山田修平 (70240017)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
15. 高野亨子 (70392420)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
16. 笠原優子 (90391911)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. 林正徳 (20624703)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
18. YAMADA Kazuo

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
19. 杉浦一充

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Yamaguchi Tomomi 山口 智美

Research Projects

Research Products

Co-Researchers

エーラス・ダンロス症候群の分子遺伝学的発症機序の包括的解明Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Elucidation of pathomechanism for vascular Ehlers-Danlos syndrome using a comprehensive approachPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Integrated understanding of dermatan sulfate through uncovering pathophysiology of musculocontractural Ehlers-Danlos syndrome

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next generation sequencing system.2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system.2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] osterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported Cases.2020

Author(s)

Journal Title

DOI

Data Source

[Presentation] Ion Torrentシステムにおけるコピー数異常検出法の有用性：遺伝性結合組織疾患関連遺伝子カスタムパネルに注目して2020

Author(s)

Organizer

Data Source

[Presentation] Intranasal desmopressin treatment for massive subcutaneous hematoma in five patients with musculocontractural Ehlers-Danlos syndrome2019

Author(s)

Organizer

Data Source

[Presentation] Pathophysiological Inves-ga-on for Large Subcutaneous Hematomas of Ehlers-Danlos Syndrome Using Pa-ent Induced Pluripotent Stem Cells2019

Author(s)

Organizer

Data Source

[Presentation] Clinical Sequencing for Vascular Ehlers-Danlos Syndrome Using Panel-Based Next-Generation Sequencing2019

Author(s)

Organizer

Data Source

[Presentation] Clinical, biochemical, and pathological investigation of a patient with musculocontractural Ehlers-Danlos syndrome caused by a novel pathogenic variant in DSE2019

Author(s)

Organizer

Data Source

Yamaguchi Tomomi 山口智美