YAMAMOTO Takuma 山本琢磨

Researcher Number	50634458
Other IDs
External Links
Affiliation (Current)	2025: 兵庫医科大学, 医学部, 准教授
Affiliation (based on the past Project Information) *help	2017 – 2024: 兵庫医科大学, 医学部, 准教授 2014 – 2018: 長崎大学, 医歯薬学総合研究科(医学系), 講師 2013: 長崎大学, 医歯(薬)学総合研究科, 助教
Review Section/Research Field	Principal Investigator Basic Section 58040:Forensics medicine-related / Legal medicine / Medium-sized Section 58:Society medicine, nursing, and related fields Except Principal Investigator Legal medicine
Keywords	Principal Investigator 突然死 / 法医学 / 乳幼児突然死 / RBM20 / 死後遺伝子解析 / 死因究明 / 法医解剖 / 機能的疾患 / 遺伝子変異 / 機能性疾患 … More / metabolic autopsy / Metabolic autopsy / 遺伝子解析 / RNAスプライシング / 遺伝子改変マウス / Cpt2 / Rbm20 / 遺伝子変異モデルマウス / iPS細胞 / SCN5A / STXBP1 / forensic autopsy / Sudden unexpected death / Postmortem iPS / 次世代シークエンサー / 避けられる死 / スクリーニング / 不整脈 / ミオパチー / 筋ジストロフィー / RNAseq / 次世代シーケンサー / Metabolic Autopsy / sudden unexpedted death / SIDS / sudden unexpected death … More Except Principal Investigator マウス / 凍死診断 / 新規診断マーカー / 凍死 / 分子マーカー / 腸腰筋 / 震え熱産生 / 恒常性維持 / 人工多能性幹細胞 / 次世代シークエンス / 死後 / ヒト / iPS / レノックス・ガストー症候群 / 法医剖検症例 / 多能性幹細胞 / 慢性ストレス / Robo1 / Arntl / Dbx2 / Zfpm2 / miR－142 family / 慢性的ストレス / miR-142-3p / 長期ストレスマーカー / 高齢者虐待 / 過労死 / 長期ストレス Less

RBM20突然死の病態解明-変異マウスを用いたスプライシング・遺伝子発現解析-Principal Investigator
- Principal Investigator
  
  山本琢磨
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 58040:Forensics medicine-related
- Research Institution
  Hyogo Medical University
An innovative diagnostic scheme for elucidating sudden death using genetically mutated model micePrincipal Investigator
- Principal Investigator
  
  YAMAMOTO TAKUMA
- Project Period (FY)
  2020 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 58040:Forensics medicine-related
- Research Institution
  Hyogo Medical University
Establishment of induced pluripotent stem cells utilizing postmortem tissue derived following sudden deathPrincipal Investigator
- Principal Investigator
  
  Yamamoto Takuma
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 58:Society medicine, nursing, and related fields
- Research Institution
  Hyogo Medical University
Elucidation of the molecular mechanism of homeostasis for corpse examination and its application to the diagnosis of fatal hypothermia
- Principal Investigator
  
  KAGAWA Shinichiro
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Legal medicine
- Research Institution
  Nagasaki University
Application of miR-142 family expressed only in immune system for chronic stress
- Principal Investigator
  
  IKEMATSU Kazuya
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Legal medicine
- Research Institution
  Nagasaki University
Apply for induced pluripotent stem cells in forensic practice
- Principal Investigator
  
  NAKAHARA Aya
- Project Period (FY)
  2015 – 2016
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Legal medicine
- Research Institution
  Nagasaki University
Establishment of innovative method of diagnosis and prevention for functional diseasesPrincipal Investigator
- Principal Investigator
  
  YAMAMOTO TAKUMA
- Project Period (FY)
  2015 – 2018
- Research Category
  
  Grant-in-Aid for Young Scientists (A)
- Research Field
  
  Legal medicine
- Research Institution
  Hyogo Medical University
  Nagasaki University
Metabolic autopsy; The new approach to sudden unexpected deathPrincipal Investigator
- Principal Investigator
  
  YAMAMOTO Takuma
- Project Period (FY)
  2013 – 2014
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Legal medicine
- Research Institution
  Nagasaki University

All 2022 2021 2019 2018 2017 2016 2015 2014 Other

All Journal Article Presentation Book

[Book] Forensic Medicine and Human Cell Research2018
- Author(s)
  Yamamoto T, Nishio H
- Total Pages
  21
- Publisher
  Springer
- Data Source
  KAKENHI-PROJECT-15H05663
[Journal Article] I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy.2022
- Author(s)
  Yamamoto T, Sano R, Miura A, Imasaka M, Naito Y, Nishiguchi M, Ihara K, Otani N, Kominato Y, Ohmuraya M, Karangi H, Nishio H.
- Journal Title
  
  J. Mol. Med.
  
  Volume: 100 Issue: 12 Pages: 1741-1754
- DOI
  10.1007/s00109-022-02262-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08467, KAKENHI-PROJECT-19H03916, KAKENHI-PROJECT-20H03958, KAKENHI-PROJECT-20K10551, KAKENHI-PROJECT-20K21385, KAKENHI-PROJECT-20K21697
[Journal Article] Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation2019
- Author(s)
  Yamamoto T, Otsu M, Okumura T, Horie Y, Ueno Y, Taniguchi H, Ohtaka M, Nakanishi M, Abe Y, Murase T, Umehara T, Ikematsu K
- Journal Title
  
  Stem Cell Res
  
  Volume: 39 Pages: 101485-101485
- DOI
  10.1016/j.scr.2019.101485
- NAID
  120006987680
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K19712, KAKENHI-PROJECT-17K19600
[Journal Article] Identification of potential markers of fatal hypothermia by a body temperature-dependent gene expression assay.2019
- Author(s)
  Umehara T, Murase T, Abe Y, Yamashita H, Shibaike Y, Kagawa S, Yamamoto T, Ikematsu K
- Journal Title
  
  International Journal of Legal Medicine
  
  Volume: 133 Issue: 2 Pages: 335-345
- DOI
  10.1007/s00414-018-1888-3
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09210
[Journal Article] 法医学の意外な一面　Metabolic autopsyによる死から生への還元と稀少疾患との出会い2018
- Author(s)
  山本琢磨
- Journal Title
  
  兵庫医科大学医学会雑誌
  
  Volume: 42 Pages: 21-26
- Data Source
  KAKENHI-PROJECT-15H05663
[Journal Article] No association between cardiac ion channel variants and sudden infant death2018
- Author(s)
  Yamamoto T, Matsusue A, Umehara T, Kubo SI, Ikematsu K
- Journal Title
  
  Pediatr Int
  
  Volume: 60 Pages: 483-484
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15H05663
[Journal Article] Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death2017
- Author(s)
  Oshima Y, Yamamoto T, Ishikawa T, Mishima H, Matsusue A, Umehara T, Murase T, Abe Y, Kubo SI, Yoshiura KI, Makita N, Ikematsu K
- Journal Title
  
  J Hum Genet
  
  Volume: 62 Pages: 989-995
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15H05663
[Journal Article] 死から生への還元ーMetabolic autopsyを用いた突然死解明－2016
- Author(s)
  山本琢磨、梅原敬弘、大島友希、村瀬壮彦、池松和哉
- Journal Title
  
  日本SIDS学会
  
  Volume: 16 Pages: 15-19
- NAID
  40021419228
- Data Source
  KAKENHI-PROJECT-15H05663
[Journal Article] 次世代シークエンサーを活用した乳幼児突然死症例の包括的な心筋イオンチャネル遺伝子解析2014
- Author(s)
  深堀友希, 梅原敬弘, 山本琢磨, 的場梁次, 池松和哉
- Journal Title
  
  DNA多型
  
  Volume: 22 Pages: 201-201
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25860490
[Journal Article] Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy2014
- Author(s)
  Yamamoto T, Tanaka H, Emoto Y, Umehara T, Fukahori Y, Kuriu Y, Matoba R, Ikematsu K
- Journal Title
  
  Brain Dev
  
  Volume: 36 Pages: 479-483
- NAID
  120006986403
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25860490
[Presentation] Rbm20ノックインマウスを用いた若年性突然死症例の病態解明2022
- Author(s)
  山本琢磨、佐野利恵、今坂舞、三浦綾、西口美紀、大谷成人、小湊慶彦、大村谷昌樹、西尾元
- Organizer
  日本法医学会第106次全国学術集会
- Data Source
  KAKENHI-PROJECT-20H03958
[Presentation] RNA sequencingと遺伝子変異動物モデルにより解明した若年突然死症例2021
- Author(s)
  山本　琢磨、今坂　舞、三浦　綾、大谷　成人、大村谷　昌樹、西尾　元
- Organizer
  第4回法医分子病理研究会
- Data Source
  KAKENHI-PROJECT-20H03958
[Presentation] 乳幼児突然死に対する遺伝子解析―検出された変異はde novo変異か否か－2018
- Author(s)
  山本琢磨、梅原敬弘、池松和哉
- Organizer
  第24回日本SIDS・乳幼児突然死予防学会
- Data Source
  KAKENHI-PROJECT-15H05663
[Presentation] 乳幼児突然死に対するMetabolic autopsyと家族への還元2018
- Author(s)
  山本琢磨、梅原敬弘、池松和哉、西尾元
- Organizer
  第２回法医分子病理研究会
- Data Source
  KAKENHI-PROJECT-15H05663
[Presentation] Identification of novel molecular markers for fatal hypothermia by body temperature-dependent gene expression analysis in rats2018
- Author(s)
  Takahiro Umehara, Takehiko Murase, Yuki Abe, Hiromi Yamashita, Yoshinori Shibaike, Takuma Yamamoto, Kazuya Ikematsu
- Organizer
  24th Congress of the International Academy of Legal Medicine
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09210
[Presentation] 新生児スクリーニングを行うことで如何ほどの突然死が事前に指摘し得るか－突然死に対する網羅的遺伝子解析－2017
- Author(s)
  山本琢磨、大島友希、松末綾、梅原敬弘、村瀬壮彦、安倍優樹、久保真一、池松和哉
- Organizer
  第23回日本SIDS・乳幼児突然死予防学会
- Data Source
  KAKENHI-PROJECT-15H05663
[Presentation] Metabolic Autopsyを用いた機能性疾患の解明2017
- Author(s)
  山本琢磨
- Organizer
  第101次日本法医学会学術全国集会
- Invited
- Data Source
  KAKENHI-PROJECT-15H05663
[Presentation] 法医学的検索2016
- Author(s)
  山本琢磨、梅原敬弘、大島友希、村瀬壮彦、池松和哉
- Organizer
  第12回日本先天代謝異常学会セミナー
- Place of Presentation
  東京都品川区東京コンファレンスセンター
- Year and Date
  2016-07-16
- Invited
- Data Source
  KAKENHI-PROJECT-15H05663
[Presentation] 乳幼児突然死に対するMetabolic Autopsyと網羅的遺伝子解析～避けられる死を目指して～2016
- Author(s)
  山本琢磨、村瀬壮彦、池松和哉
- Organizer
  第30回日本小児救急医学会学術集会
- Place of Presentation
  宮城県仙台市仙台国際センター会議棟
- Year and Date
  2016-06-30
- Data Source
  KAKENHI-PROJECT-15H05663
[Presentation] ストレス負荷モデルマウスにおけるmir142-3p、miR142-5pの発現動態2016
- Author(s)
  安部翔、安倍優樹、梅原隆弘、山本琢磨、村瀬壮彦、池松和哉
- Organizer
  第100次日本法医学会学術全国集会
- Place of Presentation
  きゅりあん（品川区立総合区民会館）（東京都・品川区）
- Year and Date
  2016-06-15
- Data Source
  KAKENHI-PROJECT-15K08875
[Presentation] 突然死に対する新生児マススクリーニング対象疾患遺伝子の網羅的検索2016
- Author(s)
  山本琢磨、大島友希、松末綾、梅原敬弘、村瀬壮彦、安倍優樹、久保真一、池松和哉
- Organizer
  第66回日本法医学学会九州地方会
- Place of Presentation
  福岡県久留米市筑水会館
- Year and Date
  2016-10-14
- Data Source
  KAKENHI-PROJECT-15H05663
[Presentation] ストレス負荷モデルマウスの胸腺におけるmiR142-3p、miR142-5pの発現動態2015
- Author(s)
  安倍　翔、梅原　敬弘、山本　琢磨、村瀬　壮彦、池松　和哉
- Organizer
  第65回日本法医学会学術九州地方集会
- Place of Presentation
  宮崎県医師会館（宮崎県・宮崎市）
- Year and Date
  2015-10-16
- Data Source
  KAKENHI-PROJECT-15K08875
[Presentation] Bezafibrate treatment of an OXPHOS disorder mouse model of Leigh Syndrome
- Author(s)
  Takuma Yamamoto, Jasper C Komen, Alysha Eibl-Geldart, Bi-Xia Ke, Adrienne Laskowski, Takahiro Umehara, Kazuya Ikematsu, David R Thorburn
- Organizer
  9th ISALM
- Place of Presentation
  福岡国際会議場(福岡市)
- Year and Date
  2014-06-16 – 2014-06-20
- Data Source
  KAKENHI-PROJECT-25860490
[Presentation] 次世代シークエンサーを活用した乳幼児突然死症例の包括的な心筋イオンチャネル遺伝子解析
- Author(s)
  深堀友希,梅原敬弘,山本琢磨,的場梁次,池松和哉
- Organizer
  日本法医学会九州地方会
- Place of Presentation
  福岡市東区馬出3-1-1　九州大学医学系研究科
- Data Source
  KAKENHI-PROJECT-25860490
[Presentation] 不整脈が原因と疑われた乳幼児突然死の一症例
- Author(s)
  山本琢磨、石川泰輔、深堀友希、梅原敬弘、村瀬壮彦、蒔田直昌、池松和哉
- Organizer
  第21回日本SIDS・乳幼児突然死予防学会
- Place of Presentation
  松本市中央公民館(松本市)
- Year and Date
  2015-03-06 – 2015-03-07
- Data Source
  KAKENHI-PROJECT-25860490
[Presentation] Comprehensive analysis of cardiac ion channel gene of sudden infant death cases utilizing the next generation sequencer
- Author(s)
  Yuki Fukahori, Takahiro Umehara, Takuma Yamamoto, Ryoji Matoba, Kazuya Ikematsu
- Organizer
  9th ISALM
- Place of Presentation
  福岡国際会議場(福岡市)
- Year and Date
  2014-06-16 – 2014-06-20
- Data Source
  KAKENHI-PROJECT-25860490
[Presentation] 脂肪酸代謝異常症からみた乳幼児突然死症例の遺伝子解析
- Author(s)
  山本琢磨, 梅原敬弘, 深堀友希, 村瀬壮彦, 池松和哉
- Organizer
  日本DNA多型第23回学術集会
- Place of Presentation
  ウインクあいち(名古屋市)
- Year and Date
  2014-11-26 – 2014-11-28
- Data Source
  KAKENHI-PROJECT-25860490
[Presentation] 次世代シークエンサーを活用した乳幼児突然死症例の包括的な心筋イオンチャネル遺伝子解析
- Author(s)
  深堀友希,梅原敬弘,山本琢磨,的場梁次,池松和哉
- Organizer
  日本DNA多型学会
- Place of Presentation
  仙台市戦災復興記念館
- Data Source
  KAKENHI-PROJECT-25860490
[Presentation] 脂肪酸代謝異常症からみた乳幼児突然死症例の遺伝子解析
- Author(s)
  山本琢磨, 梅原敬弘, 深堀友希, 村瀬壮彦, 池松和哉
- Organizer
  第63回法医学会九州地方会
- Place of Presentation
  鹿児島県市町村自治会館(鹿児島市)
- Year and Date
  2014-10-10 – 2014-10-11
- Data Source
  KAKENHI-PROJECT-25860490

1. IKEMATSU Kazuya (80332857)

# of Collaborated Projects: 5 results

# of Collaborated Products: 5 results
2. 梅原敬弘 (60617421)

# of Collaborated Projects: 4 results

# of Collaborated Products: 5 results
3. 三浦綾 (90814814)

# of Collaborated Projects: 3 results

# of Collaborated Products: 2 results
4. 坪井貴司 (80415231)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
5. NAKAHARA Aya (80719005)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. KAGAWA Shinichiro (70562213)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
7. 大津真 (30361330)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
8. 西尾元 (90253260)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. 奥村高志 (20449234)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
10. 大谷成人 (10561772)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
11. 村瀬壮彦 (40823315)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. 今坂舞 (50759553)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
13. 大村谷昌樹 (60398229)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
14. 井原健介

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

YAMAMOTO Takuma 山本 琢磨

Research Projects

Research Products

Co-Researchers

RBM20突然死の病態解明-変異マウスを用いたスプライシング・遺伝子発現解析-Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

An innovative diagnostic scheme for elucidating sudden death using genetically mutated model micePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Establishment of induced pluripotent stem cells utilizing postmortem tissue derived following sudden deathPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Elucidation of the molecular mechanism of homeostasis for corpse examination and its application to the diagnosis of fatal hypothermia

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Application of miR-142 family expressed only in immune system for chronic stress

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Apply for induced pluripotent stem cells in forensic practice

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Establishment of innovative method of diagnosis and prevention for functional diseasesPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Metabolic autopsy; The new approach to sudden unexpected deathPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Book] Forensic Medicine and Human Cell Research2018

Author(s)

Total Pages

Publisher

Data Source

[Journal Article] I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy.2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation2019

Author(s)

Journal Title

DOI

NAID

Data Source

[Journal Article] Identification of potential markers of fatal hypothermia by a body temperature-dependent gene expression assay.2019

Author(s)

Journal Title

DOI

Data Source

[Journal Article] 法医学の意外な一面 Metabolic autopsyによる死から生への還元と稀少疾患との出会い2018

Author(s)

Journal Title

Data Source

[Journal Article] No association between cardiac ion channel variants and sudden infant death2018

Author(s)

Journal Title

YAMAMOTO Takuma 山本琢磨

[Journal Article] 法医学の意外な一面　Metabolic autopsyによる死から生への還元と稀少疾患との出会い2018