Miyashita Yohei 宮下洋平

Researcher Number	60816312
Other IDs	https://orcid.org/0000-0002-1739-4734
Affiliation (Current)	2024: 大阪大学, 大学院医学系研究科, 特任講師(常勤) 2024: 国立研究開発法人国立循環器病研究センター, 病院, 室長
Affiliation (based on the past Project Information) *help	2024: 国立研究開発法人国立循環器病研究センター, 病院, 室長 2022 – 2024: 大阪大学, 大学院医学系研究科, 特任講師(常勤) 2019 – 2022: 大阪大学, 医学系研究科, 助教 2018: 大阪大学, 医学系研究科, 特任助教(常勤)
Review Section/Research Field	Principal Investigator Basic Section 53020:Cardiology-related / Basic Section 58040:Forensics medicine-related Except Principal Investigator Basic Section 53020:Cardiology-related / Medium-sized Section 58:Society medicine, nursing, and related fields
Keywords	Principal Investigator ゲノム / 突然死 / バイオインフォマティクス / Gibbs自由エネルギー / 機能喪失型変異 / PolygenicRiskScore / 法医解剖 / EDCシステムへの登録 / クオリティチェック / ゲノムデータ … More / ポリジェニックリスク / ゲノムワイド関連解析 / 遺伝統計解析 / 遺伝学的解析 / 乳幼児突然死 / 成人突然死 / ゲノム解析 / 心肥大 / トランスクリプトーム解析 / 全エクソームシーケンス / 死因究明 / データベース / ゲノム検査 / 自律神経 / 自律神経異常 … More Except Principal Investigator 心筋症 / ゲノム / 死因究明 / オミックス解析 / 突然死 / 病態機序 / リスク因子 / 病原性バリアント / 全ゲノム解析 / 空間トランスクリプトーム解析 / 自律神経 / 新規治療法開発 / 新規治療薬開発 / 創薬 / オミックス / 創薬開発 / 創薬治療法開発 / オミックス研究 / ゲノムデータベース構築 / メタボロミクス / 腸内細菌メタゲノム / 乳幼児突然死 / 自律神経関連遺伝子変異 / 心疾患関連遺伝子変異 / メタゲノム解析 / 動物モデル解析 / 死因診断マーカ / 致死的遺伝子 / ゲノム変異 / 死因究明学 / エクソーム解析 / ゲノム変異解析 / 心肥大 / 副交感神経 / 心疾患関連遺伝子 / 自律神経関連遺伝子 / メタボロミクス解析 / 全エクソーム解析 Less

遺伝子の構造及びタンパク安定性評価に基づく心筋症原因バリアント評価手法の確立Principal Investigator
- Principal Investigator
  
  宮下洋平
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 53020:Cardiology-related
- Research Institution
  National Cardiovascular Center Research Institute
Challenges in sudden death prevention focusing on epigenetic changes caused by autonomic nervous system gene mutation imbalance
- Principal Investigator
  
  松本博志
- Project Period (FY)
  2024 – 2027
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Review Section
  
  Medium-sized Section 58:Society medicine, nursing, and related fields
- Research Institution
  Osaka University
全ゲノム解析基盤による機能・情報統合解析と新規心筋症遺伝子の同定および機序解明
- Principal Investigator
  
  朝野仁裕
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 53020:Cardiology-related
- Research Institution
  Osaka University
Polygenic Risk Scoreを用いた心臓突然死リスク因子の探索と同定Principal Investigator
- Principal Investigator
  
  宮下洋平
- Project Period (FY)
  2021 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 53020:Cardiology-related
- Research Institution
  Osaka University
Identification of Novel Molecular Targets and Drug Development by Genomic and Multilayer-Omics Analysis of Hereditary Cardiomyopathies
- Principal Investigator
  
  Asano Yoshihiro
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 53020:Cardiology-related
- Research Institution
  Osaka University
An investigation into autonomic nervous system gene abnormality in unexplained sudden death cases with cardiac hypertrophyPrincipal Investigator
- Principal Investigator
  
  Miyashita Yohei
- Project Period (FY)
  2018 – 2019
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 58040:Forensics medicine-related
- Research Institution
  Osaka University
Challenge for prevention of sudden unexplained death : Elucidation of molecular mechanisms of death by transomics analysis
- Principal Investigator
  
  MATSUMOTO HIROSHI
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Review Section
  
  Medium-sized Section 58:Society medicine, nursing, and related fields
- Research Institution
  Osaka University

All 2023 2022 2021 2020 2019 2018

All Journal Article Presentation

[Journal Article] Molecular mechanism of cerebral edema improvement via IL-1RA released from stroke-unaffected hindlimb by treadmill exercise after cerebral infarction in rats2023
- Author(s)
  Gono R, Sugimoto K, Yang C, Murata Y, Nomura R, Shirazaki M, Harada K, Harada T, Miyashita Y, Higashisaka K, Katada R, Matsumoto H
- Journal Title
  
  J Cereb. Blood Flow Metab
  
  Volume: 43 Issue: 5 Pages: 812-827
- DOI
  10.1177/0271678x231151569
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K10521, KAKENHI-PROJECT-18H04078
[Journal Article] Genetic assessment using whole-exome sequencing for a young hypertriglyceridemic patient with repeated acute pancreatitis2022
- Author(s)
  Fujita Shingo、Nishizawa Hitoshi、Miyashita Yohei、Imada Tasuku、Yamaguchi Takashi、Murano Takeyoshi、Bujo Hideaki、Asano Yoshihiro、Kozawa Junji、Maeda Norikazu、Shimomura Iichiro
- Journal Title
  
  Endocr J
  
  Volume: 69 Issue: 9 Pages: 1101-1108
- DOI
  10.1507/endocrj.EJ22-0024
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K08027, KAKENHI-PROJECT-23K24328
[Journal Article] Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction2022
- Author(s)
  Fujita Shingo、Horitani Emi、Miyashita Yohei、Fujita Yukari、Fukui Kenji、Kamada Yoshihiro、Mineo Ikuo、Asano Yoshihiro、Iwahashi Hiromi、Kozawa Junji、Shimomura Iichiro
- Journal Title
  
  Journal of the Endocrine Society
  
  Volume: 6 Issue: 3
- DOI
  10.1210/jendso/bvac008
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K08027, KAKENHI-PROJECT-20K08383, KAKENHI-PROJECT-23K24328, KAKENHI-PROJECT-19H03652
[Journal Article] Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series2022
- Author(s)
  Tabata Tomoka、Kuramoto Yuki、Ohtani Tomohito、Miyawaki Hiroshi、Miyashita Yohei、Sera Fusako、Kioka Hidetaka、Higo Shuichiro、Asano Yoshihiro、Hikoso Shungo、Sakata Yasushi
- Journal Title
  
  Intern. Med.
  
  Volume: 61 Issue: 13 Pages: 1987-1993
- DOI
  10.2169/internalmedicine.8594-21
- NAID
  130008130223
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2022-07-01
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08489, KAKENHI-PROJECT-20K21602, KAKENHI-PROJECT-21H02915, KAKENHI-PROJECT-23K24328, KAKENHI-PROJECT-19H03652
[Journal Article] A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome2022
- Author(s)
  Sofronova Viktoriia、Fukushima Yu、Masuno Mitsuo、Naka Mami、Nagata Miho、Ishihara Yasuki、Miyashita Yohei、Asano Yoshihiro、Moriwaki Takahito、Iwata Rina、Terawaki Seigo、Yamanouchi Yasuko、Otomo Takanobu
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1 Pages: 1-6
- DOI
  10.1038/s41439-022-00203-y
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K06857, KAKENHI-PROJECT-20K17055, KAKENHI-PROJECT-23K24328
[Journal Article] Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation.2022
- Author(s)
  Hakui H, Kioka H, Miyashita Y, Nishimura S, Matsuoka K, Kato H, Tsukamoto O, Kuramoto Y, Takuwa A, Takahashi Y, Saito S, Ohta K, Asanuma H, Fu HY, Shinomiya H, Yamada N, Ohtani T, Sawa Y, Kitakaze M, Takashima S, Sakata Y, Asano Y.
- Journal Title
  
  Sci Transl Med
  
  Volume: 14
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18H04078
[Journal Article] Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, epilepsy, and early craniosynostosis2022
- Author(s)
  Eto K, Machida O, Yanagishita T, Yamamoto Shimojima K, Chiba K, Aihara Y, Nagata M, Isihara Y, Miyashita Y, Asano Y, Nagata S, Toshiyuki Yamamoto T
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1 Pages: 43-43
- DOI
  10.1038/s41439-022-00220-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-21K08027, KAKENHI-PROJECT-23K24328
[Journal Article] Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation2022
- Author(s)
  Hakui Hideyuki、Kioka Hidetaka、Miyashita Yohei、Nishimura Shunsuke、Matsuoka Ken、Kato Hisakazu、Tsukamoto Osamu、（3人省略）、Saito Shigeyoshi、Ohta Kunio、Asanuma Hiroshi、Fu Hai Ying、Shinomiya Haruki、Yamada Noriaki、Ohtani Tomohito、Sawa Yoshiki、Kitakaze Masafumi、Takashima Seiji、Sakata Yasushi、Asano Yoshihiro
- Journal Title
  
  Science Translational Medicine
  
  Volume: 14 Issue: 628
- DOI
  10.1126/scitranslmed.abf3274
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08581, KAKENHI-PROJECT-21H02914, KAKENHI-PROJECT-20K07338, KAKENHI-PROJECT-21K08027, KAKENHI-PROJECT-22K08155, KAKENHI-PROJECT-21K15776, KAKENHI-PROJECT-19H03652
[Journal Article] Refractory Ventricular Arrhythmias in a Patient With Dilated Cardiomyopathy Caused by a Nonsense Mutation in <i>BAG5</i>2022
- Author(s)
  Hakui Hideyuki、Kioka Hidetaka、Sera Fusako、Nakamoto Kei、Ozu Kentaro、Kuramoto Yuki、Miyashita Yohei、Ohtani Tomohito、Hikoso Shungo、Asano Yoshihiro、Sakata Yasushi
- Journal Title
  
  Circ J
  
  Volume: 86 Issue: 12 Pages: 2043
- DOI
  10.1253/circj.CJ-22-0329
- ISSN
  1346-9843, 1347-4820
- Year and Date
  2022-11-25
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K08027, KAKENHI-PROJECT-22K08155, KAKENHI-PROJECT-22K20919, KAKENHI-PROJECT-23K24328
[Journal Article] The CR9 element is a novel mechanical load‐responsive enhancer that regulates natriuretic peptide genes expression2021
- Author(s)
  Miyashita Y, Tsukamoto O, Matsuoka K, Kamikubo K, Kuramoto Y, Fu HY, Tsubota T, Hasuike H, Takayama T, Ito H, Hitsumoto T, Okamoto C, Kioka H, Oya R, Shinomiya H, Hakui H, Shintani Y, Kato H, Kitakaze M, Sakata Y, Asano Y, Takashima S
- Journal Title
  
  The FASEB Journal
  
  Volume: 35 Issue: 4
- DOI
  10.1096/fj.202002111rr
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07338, KAKENHI-PROJECT-18K08105, KAKENHI-PROJECT-19K08581, KAKENHI-PROJECT-20K17151, KAKENHI-PROJECT-19H03652
[Journal Article] Cardiac Fibroblasts Play Pathogenic Roles in Idiopathic Restrictive Cardiomyopathy2021
- Author(s)
  Tsuru Hirofumi、Ishida Hidekazu、Narita Jun、Ishii Ryo、Suginobe Hidehiro、Ishii Yoichiro、Wang Renjie、Kogaki Shigetoyo、Taira Masaki、Ueno Takayoshi、Miyashita Yohei、Kioka Hidetaka、Asano Yoshihiro、Sawa Yoshiki、Ozono Keiichi
- Journal Title
  
  Circ J
  
  Volume: 85 Issue: 5 Pages: 677-686
- DOI
  10.1253/circj.CJ-20-1008
- NAID
  130008028981
- ISSN
  1346-9843, 1347-4820
- Year and Date
  2021-04-23
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07789, KAKENHI-PROJECT-19K08581, KAKENHI-PROJECT-19K17561, KAKENHI-PROJECT-19H03652
[Journal Article] Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures2021
- Author(s)
  Shimojima Yamamoto Keiko、Yanagishita Tomoe、Yamamoto Hisako、Miyamoto Yusaku、Nagata Miho、Ishihara Yasuki、Miyashita Yohei、Asano Yoshihiro、Sakata Yasushi、Yamamoto Toshiyuki
- Journal Title
  
  Human Genome Variation
  
  Volume: 8 Issue: 1 Pages: 43-43
- DOI
  10.1038/s41439-021-00176-4
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-18H04078, KAKENHI-PROJECT-19H03652
[Journal Article] HECW2-related disorder in four Japanese patients2021
- Author(s)
  Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T
- Journal Title
  
  Am Med Genet A
  
  Volume: 185 Issue: 10 Pages: 2895-2902
- DOI
  10.1002/ajmg.a.62363
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-19H03652
[Journal Article] A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting2021
- Author(s)
  Yanagishita Tomoe、Eto Kaoru、Yamamoto-Shimojima Keiko、Segawa Osamu、Nagata Miho、Ishihara Yasuki、Miyashita Yohei、Asano Yoshihiro、Sakata Yasushi、Nagata Satoru、Yamamoto Toshiyuki
- Journal Title
  
  Human Genome Variation
  
  Volume: 8 Issue: 1
- DOI
  10.1038/s41439-021-00148-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03652
[Journal Article] Molecular mechanisms of Wischnewski spot development on gastric mucosa in fatal hypothermia: an experimental study in rats2020
- Author(s)
  Chihpin Yang, Kana Sugimoto, Yukie Murata, Yuichiro Hirata, Yu Kamakura, Yoshihisa Koyama, Yohei Miyashita, Kentaro Nakama, Kazuma Higashisaka, Kazuo Harada, Ryuichi Katada, Hiroshi Matsumoto
- Journal Title
  
  Scientific Reports
  
  Volume: 10 Issue: 1 Pages: 1877-1877
- DOI
  10.1038/s41598-020-58894-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09456, KAKENHI-PROJECT-19K24255, KAKENHI-PROJECT-16K10721, KAKENHI-PROJECT-18K10125, KAKENHI-PROJECT-18H04078
[Journal Article] Activated microglia-derived macrophage-like cells exacerbate brain edema after ischemic stroke correlate with astrocytic expression of aquaporin-4 and interleukin-1 alpha release2020
- Author(s)
  Murata Yukie、Sugimoto Kana、Yang Chihpin、Harada Kazuo、Gono Rina、Harada Teiji、Miyashita Yohei、Higashisaka Kazuma、Katada Ryuichi、Tanaka Junya、Matsumoto Hiroshi
- Journal Title
  
  Neurochemistry International
  
  Volume: 140 Pages: 104848-104848
- DOI
  10.1016/j.neuint.2020.104848
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K10125, KAKENHI-PROJECT-19K09456, KAKENHI-PROJECT-20K21465, KAKENHI-PROJECT-18H04078
[Journal Article] Identification of transmembrane protein 168 mutation in familial Brugada syndrome.2020
- Author(s)
  Shimizu A, Zankov DP, Sato A, Komeno M, Toyoda F, Yamazaki S, Makita T, Noda T, Ikawa M, Asano Y, Miyashita Y, Takashima S, Morita H, Ishikawa T, Makita N, Hitosugi M, Matsuura H, Ohno S, Horie M, Ogita H.
- Journal Title
  
  FASEB Journal
  
  Volume: 34 Issue: 5 Pages: 6399-6417
- DOI
  10.1096/fj.201902991r
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K08075, KAKENHI-PROJECT-18K19550, KAKENHI-PROJECT-18KK0245, KAKENHI-ORGANIZER-19H05749, KAKENHI-PROJECT-17F17418, KAKENHI-PROJECT-17K08536, KAKENHI-PROJECT-17K08627, KAKENHI-PROJECT-17K08657, KAKENHI-PROJECT-16H06276, KAKENHI-PROJECT-19K09408, KAKENHI-PROJECT-20K08489, KAKENHI-PROJECT-18H02808, KAKENHI-PROJECT-18K15894, KAKENHI-PROJECT-18K07875, KAKENHI-PROJECT-18K08033, KAKENHI-PROJECT-19H03652, KAKENHI-PROJECT-18K19547, KAKENHI-PROJECT-21K08119
[Presentation] アルコール性突然死例のゲノム上の特徴～法医学ゲノム検査の実際と展望～2021
- Author(s)
  宮下洋平
- Organizer
  第56回日本アルコール・アディクション医学会　学術総会
- Invited
- Data Source
  KAKENHI-PROJECT-21K08027
[Presentation] ゲノムデータの機械学習に基づく心臓突然死関連遺伝子の新規探索2019
- Author(s)
  宮下洋平
- Organizer
  第23回日本心不全学会
- Invited
- Data Source
  KAKENHI-PROJECT-18K17414
[Presentation] 全エクソームおよびRNAシークエンスを用いた突然死の死亡機序の解明2019
- Author(s)
  宮下洋平，磯部悠，坂橋優治，高橋真樹子，東阪和馬，杉本香奈，原田和生，片田竜一，松本博志
- Organizer
  日本法医学会総会
- Data Source
  KAKENHI-PROJECT-18K17414
[Presentation] 全エクソームおよびRNAシークエンスを用いた突然死の死亡機序の解明2019
- Author(s)
  宮下洋平
- Organizer
  第103次日本法医学会学術全国集会
- Data Source
  KAKENHI-PROJECT-18K17414
[Presentation] 全エクソームシークエンスを用いた心臓突然死疾患データベースの構築および突然死関連遺伝子の新規探索2019
- Author(s)
  宮下洋平
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-18K17414
[Presentation] Identification of pathogenic genes in sudden unexpected death based on artificial intelligence and machine learning2019
- Author(s)
  宮下洋平
- Organizer
  第36回ISHR日本部会総会
- Data Source
  KAKENHI-PROJECT-18K17414
[Presentation] 心臓突然死事例における遺伝学的背景の解明2018
- Author(s)
  有田一翔，宮下洋平，高橋真樹子，中間健太郎，東阪和馬，杉本香奈，原田和生，片田竜一，松本博志
- Organizer
  日本法医学会近畿地方会
- Data Source
  KAKENHI-PROJECT-18K17414
[Presentation] 全エクソーム解析からみた心臓突然死症例の遺伝学的プロファイル2018
- Author(s)
  宮下洋平，高橋真樹子，中間健太郎，東阪和馬，杉本香奈，原田和生，片田竜一，松本博志
- Organizer
  日本DNA多型学会
- Data Source
  KAKENHI-PROJECT-18K17414

1. MATSUMOTO HIROSHI (60263092)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
2. Asano Yoshihiro (60527670)

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
3. 杉本香奈 (00581034)

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
4. 山田知美 (60363371)

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
5. 東阪和馬 (20646757)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 原田和生 (50397741)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
7. 吉澤秀憲 (90739905)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. 木岡秀隆 (70642099)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
9. 塚本蔵 (80589151)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. 前田秀将 (60407963)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. 四宮春輝 (10908213)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. 藏本勇希 (50843794)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
13. 高島成二 (90379272)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. KATO Hisakazu

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
15. KATADA Ryuichi

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
16. 寺脇正剛

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
17. 山本俊至

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
18. 要匡

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
19. 柳久美子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
20. 森田宏

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Miyashita Yohei 宮下 洋平

Research Projects

Research Products

Co-Researchers

遺伝子の構造及びタンパク安定性評価に基づく心筋症原因バリアント評価手法の確立Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Challenges in sudden death prevention focusing on epigenetic changes caused by autonomic nervous system gene mutation imbalance

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

全ゲノム解析基盤による機能・情報統合解析と新規心筋症遺伝子の同定および機序解明

Principal Investigator

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Polygenic Risk Scoreを用いた心臓突然死リスク因子の探索と同定Principal Investigator

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Identification of Novel Molecular Targets and Drug Development by Genomic and Multilayer-Omics Analysis of Hereditary Cardiomyopathies

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An investigation into autonomic nervous system gene abnormality in unexplained sudden death cases with cardiac hypertrophyPrincipal Investigator

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Challenge for prevention of sudden unexplained death : Elucidation of molecular mechanisms of death by transomics analysis

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[Journal Article] Molecular mechanism of cerebral edema improvement via IL-1RA released from stroke-unaffected hindlimb by treadmill exercise after cerebral infarction in rats2023

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[Journal Article] Genetic assessment using whole-exome sequencing for a young hypertriglyceridemic patient with repeated acute pancreatitis2022

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[Journal Article] Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction2022

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[Journal Article] Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series2022

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[Journal Article] A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome2022

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[Journal Article] Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation.2022

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Miyashita Yohei 宮下洋平

[Presentation] アルコール性突然死例のゲノム上の特徴～法医学ゲノム検査の実際と展望～2021