Shimomura Hideki 下村英毅

Researcher Number	30441273
Other IDs	https://orcid.org/0000-0002-0815-9193
Affiliation (Current)	2022: 兵庫医科大学, 医学部, 講師
Affiliation (based on the past Project Information) *help	2019 – 2021: 兵庫医科大学, 医学部, 講師 2018: 兵庫医科大学, 医学部, 助教 2017: 兵庫医科大学, 医学部, その他 2015 – 2016: 兵庫医科大学, 医学部, 助教
Review Section/Research Field	Principal Investigator Pediatrics / Neurology / Basic Section 52050:Embryonic medicine and pediatrics-related Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics / Human genetics
Keywords	Principal Investigator 筋ジストロフィー / スプライシング / スプライシング異常 / アンチセンスオリゴヌクレオチド / エクソンスキッピング / Duchenne型筋ジストロフィー / 血管内皮増殖因子 Except Principal Investigator 筋ジストロフィー / 分子治療 / アンチセンスオリゴヌクレオチド … More

エクソンスキッピング誘導治療の有効性を予測する残存イントロン解析システムの検証
- Principal Investigator
  
  李知子
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Hyogo College of Medicine
尿中スプライシング産物をバイオマーカーとした筋ジストロフィー治療評価系の検証
- Principal Investigator
  
  田中靖彦
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Hyogo College of Medicine
筋ジストロフィーにおける血管作動性因子のスプライシング動態の解明と治療応用
- Principal Investigator
  
  竹島泰弘
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Hyogo College of Medicine
血管内皮増殖因子スプライシングアイソフォームを制御する筋ジストロフィー治療の検証Principal Investigator
- Principal Investigator
  
  下村英毅
- 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
  Hyogo College of Medicine
Non-invasive system for predicting effectiveness of the exon skipping therapy for muscular dystrophy
- Principal Investigator
  
  Yasuhiro Takeshima
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Hyogo College of Medicine
東アジアにおける筋ジストロフィーオーダーメイド治療開発のための分子疫学的調査
- Principal Investigator
  
  竹島泰弘
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Hyogo College of Medicine
Identification of exonic splicing enhancer sequences by analysis of dystrophin gene micromutationPrincipal Investigator
- Principal Investigator
  
  Shimomura Hideki
- Project Period (FY)
  2016 – 2019
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
  Neurology
- Research Institution
  Hyogo College of Medicine
Investigation of inflammatory factors affecting the efficacy of the molecular therapies for muscular dystrophy
- Principal Investigator
  
  Yasuhiro Takeshima
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Hyogo College of Medicine

All 2019 2018 2017 2016

All Journal Article Presentation

[Journal Article] Two Closely Spaced Mutations in cis Result in Ullrich Congenital Muscular Dystrophy2019
- Author(s)
  Shimomura Hideki、Lee Tomoko、Tanaka Yasuhiko、Awano Hiroyuki、Itoh Kyoko、Nishino Ichizo、Takeshima Yasuhiro
- Journal Title
  
  Human genome variation.
  
  Volume: 6 Pages: 21-21
- DOI
  10.1038/s41439-019-0052-z
- NAID
  120006644105
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10087, KAKENHI-PROJECT-16K21524
[Presentation] A manifesting carrier of Duchenne Muscular Dystrophy with a balanced X-autosome translocation with a breakpoint in the dystrophin gene2019
- Author(s)
  Lee T., Sokoda T., Misaki M., Shimomura H., Takeshima Y.
- Organizer
  24th International Annual Congress of the World Muscle Society
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10087
[Presentation] 家族歴のない高ＣＫ血症女児の臨床背景の検討2019
- Author(s)
  李知子, 徳永沙知, 牟禮慎子, 三﨑真生子, 下村英毅, 西野一三, 伊東恭子, 竹島泰弘
- Organizer
  第61回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10087
[Presentation] ジストロフェン遺伝子内に切断点を有するＸ染色体-常染色体均衡型転座によるデュシェンヌ型筋ジストロフィー女児2019
- Author(s)
  李知子, 底田辰之, 三﨑真生子, 下村英毅, 奥野美佐子, 竹島泰弘
- Organizer
  第60回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-17K10087
[Presentation] Clinical background of hyper-creatine-kinase-emia girls without a family history of genetic muscular diseases2019
- Author(s)
  Tamoko L., Tokunaga S.,, Mure C., Misaki M., Shimomura H., Nishino I., Itoh K., Takeshima Y.
- Organizer
  EUROPEAN HUMAN GENETICS CONFERENCE 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10087
[Presentation] 新規変異を同定した重症型LMNA-related congenital muscular dystrophyの一例2018
- Author(s)
  李　知子、下村英毅、牟禮慎子、三崎真生子、香田　翼、柴田暁男、
- Organizer
  第60回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10087
[Presentation] 筋疾患の家族歴のない無症候性高CK血症女児の検討2018
- Author(s)
  李知子, 三崎真生子, 下村英毅, 伊東恭子, 竹島泰弘
- Organizer
  日本小児科学会
- Data Source
  KAKENHI-PROJECT-16H05814
[Presentation] 家族歴のない無症候性高CK血症女児の検討2018
- Author(s)
  李知子、三崎真生子、下村英毅、伊東恭子、竹島泰弘
- Organizer
  第121回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10087
[Presentation] 次世代シークエンサーを用いた遺伝子解析によりCalpain-3遺伝子変異を同定した筋症状のない高CK血症女児2018
- Author(s)
  李知子、西岡　隆文、三崎真生子、下村英毅、竹島泰弘
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-17K10087
[Presentation] 新規変異を同定した重症型LMNA-related congenital muscular dystrophyの一例2018
- Author(s)
  李　知子、下村英毅、牟禮慎子、三崎真生子、香田　翼、柴田暁男、川本久美、岡田陽子、小泉真琴、伊東恭子、竹島泰弘
- Organizer
  日本小児神経学会
- Data Source
  KAKENHI-PROJECT-17K10087
[Presentation] 新規変異を同定した重症型LMNA-related congenital muscular dystrophyの一例2018
- Author(s)
  李知子、下村英毅、牟禮慎子、三崎真生子、香田翼、柴田暁男、川本久美、岡田陽子、小泉真琴、伊東恭子、竹島泰弘
- Organizer
  日本小児神経学会
- Data Source
  KAKENHI-PROJECT-16H05814
[Presentation] 片側アレルに近接した2つの遺伝子異常を認めた常染色体優性Ullrich型先天性筋ジストロフィーの1例2017
- Author(s)
  下村英毅, 李知子, 松本真明, 粟野宏之, 伊東恭子, 西野一三, 竹島泰弘.
- Organizer
  第59回日本小児神経学会総会
- Data Source
  KAKENHI-PROJECT-16K21524
[Presentation] Duchenne型筋ジストロフィーに対するENAアンチセンスオリゴヌクレオチド(AO85)投与の効果2017
- Author(s)
  李知子, 下村英毅, 粟野宏之, 飯島一誠, 荻寛志, 伊東恭子, 松尾雅文, 竹島泰弘.
- Organizer
  第59回日本小児神経学会総会
- Data Source
  KAKENHI-PROJECT-16K21524
[Presentation] Duchenne型筋ジストロフィーに対するENAアンチセンスオリゴヌクレオチド(AO85)投与の効果2017
- Author(s)
  李知子, 下村英毅, 粟野宏之, 飯島一誠, 荻寛志, 伊東恭子, 松尾雅文, 竹島泰弘
- Organizer
  日本小児神経学会
- Data Source
  KAKENHI-PROJECT-16H05814
[Presentation] 片側アレルに近接した2つの遺伝子異常を認めたUllrich型先天性筋ジストロフィーの1例2017
- Author(s)
  下村英毅, 李知子, 松本真明, 粟野宏之, 伊東恭子, 西一三, 竹島泰弘
- Organizer
  日本小児神経学会
- Data Source
  KAKENHI-PROJECT-16H05814
[Presentation] RNA/ENA chimera antisense oligonucleotide (AO85) was safely administered and shown to induce dystrophin exon 45 skipping in Duchenne muscular dystrophy patient: the first clinical study2016
- Author(s)
  Yasuhiro Takeshima, Tomoko Lee, Hideki Shimomura, Yasuhiko Tanaka, Hiroyuki Awano, Atsushi Nishida, Isao Ojima, Satoshi Minami, Akio Nakagawa, Kazumoto Iijima, Masafumi Matsuo
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  Kyoto International Conference Center（京都府京都市）
- Year and Date
  2016-04-04
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461545
[Presentation] A new antisense oligonucleotide composed of RNA/ENA chimera (AO85) against dystrophin exon 45 significantly increased six-minute walk distance in Duchenne muscular dystrophy2016
- Author(s)
  Yasuhiro Takeshima, Tomoko Lee, Hideki shimomura, Yasuhiko Tanaka, Hiroyuki Awano, Atsushi Nishida, Isao Ojima, Satoshi Minami, Akio Nakagawa, Kazumoto Iijima, Masafumi Matsuo
- Organizer
  5th　International Congress of Myology
- Place of Presentation
  Lyon, France
- Year and Date
  2016-03-14
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461545

1. Yasuhiro Takeshima (40281141)

# of Collaborated Projects: 6 results

# of Collaborated Products: 14 results
2. 李知子 (10596042)

# of Collaborated Projects: 6 results

# of Collaborated Products: 14 results
3. 三崎真生子 (50595048)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
4. 田中靖彦 (20595045)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. 奥野美佐子 (60646553)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results

Shimomura Hideki 下村 英毅

Research Projects

Research Products

Co-Researchers

エクソンスキッピング誘導治療の有効性を予測する残存イントロン解析システムの検証

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

尿中スプライシング産物をバイオマーカーとした筋ジストロフィー治療評価系の検証

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

筋ジストロフィーにおける血管作動性因子のスプライシング動態の解明と治療応用

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

血管内皮増殖因子スプライシングアイソフォームを制御する筋ジストロフィー治療の検証Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Non-invasive system for predicting effectiveness of the exon skipping therapy for muscular dystrophy

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

東アジアにおける筋ジストロフィーオーダーメイド治療開発のための分子疫学的調査

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Identification of exonic splicing enhancer sequences by analysis of dystrophin gene micromutationPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Investigation of inflammatory factors affecting the efficacy of the molecular therapies for muscular dystrophy

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Two Closely Spaced Mutations in cis Result in Ullrich Congenital Muscular Dystrophy2019

Author(s)

Journal Title

DOI

NAID

Data Source

[Presentation] A manifesting carrier of Duchenne Muscular Dystrophy with a balanced X-autosome translocation with a breakpoint in the dystrophin gene2019

Author(s)

Organizer

Data Source

[Presentation] 家族歴のない高ＣＫ血症女児の臨床背景の検討2019

Author(s)

Organizer

Data Source

[Presentation] ジストロフェン遺伝子内に切断点を有するＸ染色体-常染色体均衡型転座によるデュシェンヌ型筋ジストロフィー女児2019

Author(s)

Organizer

Data Source

[Presentation] Clinical background of hyper-creatine-kinase-emia girls without a family history of genetic muscular diseases2019

Author(s)

Organizer

Data Source

[Presentation] 新規変異を同定した重症型LMNA-related congenital muscular dystrophyの一例2018

Author(s)

Organizer

Data Source

[Presentation] 筋疾患の家族歴のない無症候性高CK血症女児の検討2018

Author(s)

Shimomura Hideki 下村英毅