Sakamoto Masamune 坂本正宗

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坂本正宗サカモトマサムネ

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Researcher Number	10991036
Other IDs
Affiliation (Current)	2026: 横浜市立大学, 医学部, 助教
Affiliation (based on the past Project Information) *help	2026: 横浜市立大学, 医学研究科, 特任助教 2024: 横浜市立大学, 医学研究科, 共同研究員
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords	Principal Investigator 構造変異 / リピート病 / 小脳低形成 / 小脳萎縮 / 全部エクソーム解析 / 小脳低形成および小脳萎縮 / 全ゲノム解析 / 長鎖型シーケンサー

重層的ゲノム統合解析によるジストニア分子病態の包括的解読Principal Investigator
- Principal Investigator
  
  坂本正宗
- Project Period (FY)
  2026 – 2028
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Yokohama City University
小脳病変を有する小児例における長鎖型シーケンサーによる遺伝学的原因の探索Principal Investigator
- Principal Investigator
  
  坂本正宗
- Project Period (FY)
  2024 – 2025
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Yokohama City University

All 2025 2024

All Journal Article Presentation

[Journal Article] Clinical and genetic spectrum of patients with IRF2BPL syndrome2025
- Author(s)
  Iwama Kazuhiro、Kato Mitsuhiro、Uchiyama Yuri、Sakamoto Masamune、Tsuchida Naomi、Hamanaka Kohei、Koshimizu Eriko、Fujita Atsushi、Nakashima Mitsuko、Miyatake Satoko、Sengoku Toru、Ogata Kazuhiro、Saitoh Shinji、Saitsu Hirotomo、Ito Shuichi、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 70 Issue: 4 Pages: 181-188
- DOI
  10.1038/s10038-025-01316-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K16862, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27566, KAKENHI-PROJECT-23K27568, KAKENHI-PROJECT-24K02230, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-24K18862, KAKENHI-PROJECT-24K18897
[Journal Article] Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature2025
- Author(s)
  Mizuguchi Takeshi、Okamoto Nobuhiko、Hara Taiki、Nishimura Naoto、Sakamoto Masamune、Fu Li、Uchiyama Yuri、Tsuchida Naomi、Hamanaka Kohei、Koshimizu Eriko、Fujita Atsushi、Misawa Kazuharu、Nakabayashi Kazuhiko、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 17 Issue: 1 Pages: 27-27
- DOI
  10.1186/s13148-025-01832-0
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K24490, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568, KAKENHI-PROJECT-24K02230, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-24K18862
[Journal Article] A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis2024
- Author(s)
  Watanabe Kazuki、Bunai Tomoyasu、Sakamoto Masamune、Ishigaki Sayaka、Iwakura Takamasa、Ohashi Naro、Wakatsuki Rie、Takenouchi Akiyuki、Iwaizumi Moriya、Hotta Yoshihiro、Saida Ken、Koshimizu Eriko、Miyatake Satoko、Saitsu Hirotomo、Matsumoto Naomichi、Nakamura Tomohiko
- Journal Title
  
  Journal of Neurology
  
  Volume: 271 Issue: 9 Pages: 6227-6237
- DOI
  10.1007/s00415-024-12593-w
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K17326, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27566, KAKENHI-PROJECT-24K02230, KAKENHI-PROJECT-23K14750, KAKENHI-PROJECT-24K18862
[Journal Article] Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report.2024
- Author(s)
  Sebastian Silva, Monica Rosas, Benjamin Guerra, Marion Munoz Atsushi Fujita, Masamune Sakamoto, Naomichi Matsumoto
- Journal Title
  
  Brain & development
  
  Volume: 46 Issue: 7 Pages: 250-253
- DOI
  10.1016/j.braindev.2024.04.001
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24K02230, KAKENHI-PROJECT-24K18862
[Presentation] A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 82024
- Author(s)
  Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Atsushi Fujita, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto et al
- Organizer
  日本人類遺伝学会第69回大会
- Data Source
  KAKENHI-PROJECT-24K18862

1. 岩間一浩

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
2. 藤田京志

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
3. 松本直通

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Sakamoto Masamune 坂本 正宗

坂本 正宗 サカモト マサムネ

Research Projects

Research Products

Co-Researchers

重層的ゲノム統合解析によるジストニア分子病態の包括的解読Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

小脳病変を有する小児例における長鎖型シーケンサーによる遺伝学的原因の探索Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] Clinical and genetic spectrum of patients with IRF2BPL syndrome2025

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature2025

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report.2024

Author(s)

Journal Title

DOI

Data Source

[Presentation] A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 82024

Author(s)

Organizer

Data Source

Sakamoto Masamune 坂本正宗

坂本正宗サカモトマサムネ