YATSUKA YUKIKO 八塚由紀子

Researcher Number	20458524
Other IDs	https://orcid.org/0000-0003-3137-6919
Affiliation (Current)	2025: 順天堂大学, 大学院医学研究科, 助教
Affiliation (based on the past Project Information) *help	2022 – 2024: 順天堂大学, 大学院医学研究科, 助教 2013 – 2015: 埼玉医科大学, 医学部, 助手
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Applied pharmacology
Keywords	Principal Investigator スプライシング異常 / ミトコンドリア病 / ミニジーンアッセイ / イントロニックバリアント / 遺伝子診断 / エキソンスキップ / RNAスプライシング / ゲノム解析 / 疑似エクソン / エクソンスキップ … More / ディープイントロニックバリアント / 遺伝子工学 / 人工制限酵素 / 遺伝子診断・治療 / ミトコンドリアDNA Less

Establishment of an intronic variant evaluation system aimed at improving the diagnosis rate of mitochondrial disease.Principal Investigator
- Principal Investigator
  
  八塚由紀子
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Juntendo University
Mitochondrial disease gene analysis focusing on RNA splicing abnormalitiesPrincipal Investigator
- Principal Investigator
  
  八塚由紀子
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Juntendo University
Development of mutagenesis to the mitochondrial DNA using artificial restriction enzyme and application to definitive diagnosis.Principal Investigator
- Principal Investigator
  
  YATSUKA YUKIKO
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Applied pharmacology
- Research Institution
  Saitama Medical University

All 2023 2022 2016 2015 2014 Other

All Journal Article Presentation Book

[Book] ミトコンドリア疾患治療の新時代第2章 I-1 ミトコンドリア病の遺伝子診断と病態解析2023
- Author(s)
  杉山洋平, 八塚由紀子, 村山圭, 岡﨑康司
- Total Pages
  7
- Publisher
  羊土社
- ISBN
  9784758104098
- Data Source
  KAKENHI-PROJECT-22K15950
[Book] 生体の科学 74巻5号ミトコンドリア病の病態解明と治療法の開発2023
- Author(s)
  八塚由紀子、岡﨑康司
- Total Pages
  2
- Publisher
  金原一郎記念医学医療振興財団
- Data Source
  KAKENHI-PROJECT-22K15950
[Book] 特集症例から学ぶミトコンドリア病 [総論] ミトコンドリアDNA変異と遺伝子診断の実際2022
- Author(s)
  八塚由紀子, 岡﨑康司
- Total Pages
  4
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-22K15950
[Journal Article] Strategic validation of variants of uncertain significance in ECHS1 genetic testing2023
- Author(s)
  Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, Kazuhiro R Nitta, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yibo Wu, Hitoshi Osaka, Akira Ohtake, Kei Murayama, Yasushi Okazaki
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: Online ahead of print Issue: 10 Pages: 1006-1015
- DOI
  10.1136/jmg-2022-109027
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K15950, KAKENHI-PROJECT-23K07236, KAKENHI-PROJECT-23K07488, KAKENHI-PROJECT-23H00424
[Journal Article] Novel ITPA variants identified by whole genome sequencing and RNA sequencing2023
- Author(s)
  Omichi Nanako、Kishita Yoshihito、Nakama Mina、Sasai Hideo、Terazawa Atsushi、Kobayashi Emiko、Fushimi Takuya、Sugiyama Yohei、Ichimoto Keiko、Nitta Kazuhiro R.、Yatsuka Yukiko、Ohtake Akira、Murayama Kei、Okazaki Yasushi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 68 Issue: 9 Pages: 649-652
- DOI
  10.1038/s10038-023-01156-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K15950, KAKENHI-PROJECT-22K07889, KAKENHI-PROJECT-23K07236
[Journal Article] A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain deficiency.2016
- Author(s)
  Kohda M, Mizuno Y, Hirata T, Yatsuka Y, Yamashita, Okuda A, Borna NN, Banshoya K, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y.
- Journal Title
  
  PLoS Genetics:
  
  Volume: 12(1) Issue: 1 Pages: e1005679-e1005679
- DOI
  10.1371/journal.pgen.1005679
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-25112001, KAKENHI-PUBLICLY-26112512, KAKENHI-PROJECT-25504016, KAKENHI-PROJECT-25670261, KAKENHI-PROJECT-26860830, KAKENHI-PROJECT-26870545, KAKENHI-PROJECT-25293082, KAKENHI-PLANNED-26113003, KAKENHI-PROJECT-26220205
[Journal Article] Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.2014
- Author(s)
  Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, Yatsuka Y, Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K.
- Journal Title
  
  Brain & development
  
  Volume: S0387-7604(14) Issue: 7 Pages: 261-267
- DOI
  10.1016/j.braindev.2014.10.013
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25670261
[Presentation] Efforts aimed at early genetic diagnosis of suspected mitochondrial diseases: Application of whole blood RNA sequencing2023
- Author(s)
  Yukiko Yatsuka
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15950
[Presentation] 【ミトコンドリア病遺伝子パネル】累計556症例の解析および保険診療体制の整備2023
- Author(s)
  八塚由紀子
- Organizer
  第22回日本ミトコンドリア学会年会
- Data Source
  KAKENHI-PROJECT-22K15950
[Presentation] ミトコンドリア病遺伝学検査2023
- Author(s)
  八塚由紀子
- Organizer
  第7回ミトコンドリア病研究公開フォーラム
- Data Source
  KAKENHI-PROJECT-22K15950
[Presentation] RNAシーケンスから明らかになった7番染色体部分欠失を伴うSengers症候群の一症例2022
- Author(s)
  八塚由紀子
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-22K15950
[Presentation] ミトコンドリア病を対象とした遺伝子パネルシーケンス2022
- Author(s)
  八塚由紀子
- Organizer
  第29回日本遺伝子診療学会大会
- Data Source
  KAKENHI-PROJECT-22K15950
[Presentation] 全エキソーム解析で病因を同定したミトコンドリア呼吸鎖異常症の出生前遺伝子診断2015
- Author(s)
  山崎太郎、原嶋宏子、伏見拓矢、志村優、八塚由紀子、木下善仁、神田将和、岡崎康司、村山圭、大竹明
- Organizer
  第13回アジア先天代謝異常症シンポジウム
- Place of Presentation
  大阪国際会議場（大阪府大阪市）
- Year and Date
  2015-11-12
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25670261
[Presentation] A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies.2015
- Author(s)
  Masakzu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Hiromi Nyuzuki, Yosuke Mizuno, Tomoko Hirata, Yukiko Yatsuka, et al.
- Organizer
  第15回日本ミトコンドリア学会年会
- Place of Presentation
  福井県国際交流会館（福井県福井市）
- Year and Date
  2015-11-19
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25670261
[Presentation] ミトコンドリア呼吸鎖複合体異常症のゲノム解析と新規原因遺伝子の発見2015
- Author(s)
  神田将和、徳澤佳美、木下善仁、森山陽介、水野洋介、平田智子、八塚由紀子、菅原泉、仲地豊、加藤英政、田丸俊輔、入月浩美、Nurun Nahar Borna、原嶋宏子、山崎太郎、森雅人、村山圭、大竹明、岡崎康司
- Organizer
  日本人類遺伝学会　第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-25670261
[Presentation] A comprehensive genomic analysis of 144 patients with mitochondrial respiratory chain deficiencies.
- Author(s)
  Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Yzumi Yamashita-Sugahara, Yosuke Mizuno, Yutaka Nakachi, Tomoko Hirata, Yukiko Kanesaki-Yatsuka, Hiroko Harashima, Taro Yamazaki, Masato Mori, Kei Murayama, Hidemasa Kato, Akira Ohtake, Yasushi Okazaki
- Organizer
  日本人類遺伝学会第59回大会
- Place of Presentation
  タワーホール船堀（東京都江戸川区）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25670261
[Presentation] Large-scale comprehensive identification and analysis of causative genes in mitochondrial respiratory chain disorder
- Author(s)
  Y Kishita, Y Tokuzawa, M Kohda, Y Moriyama, Y Yamashita-Sugahara, S Tamaru, H Tochigi, Y Mizuno, N Uehara, Y Nakachi, Y Yatsuka, H Nyuzuki, S Suzuki, NN Borna, T Hirata, N Matoba, H Kato, A Okuda, M Mori, M Ajima, H Harashima, T Yamazaki, K Murayama, A Ohtake, Y Okazaki
- Organizer
  第37回日本分子生物学会
- Place of Presentation
  パシフィコ横浜（神奈川県横浜市）
- Year and Date
  2014-11-25 – 2014-11-27
- Data Source
  KAKENHI-PROJECT-25670261
[Presentation] A comprehensive genomic analysis for mitochondrial respiratory chain disorder.
- Author(s)
  M. Kohda, Y. Tokuzawa, Y. Kishita, Y. Yamashita-Sugahara, Y. Mizuno, Y. Nakachi, Y. Moriyama, T. Hirata, Y. Kanesaki-Yatsuka, H. Harashima, M. Ajima, T. Yamazaki, M. Mori, K. Murayama, H. Kato, A. Ohtake, Y. Okazaki
- Organizer
  アメリカ人類遺伝学会（ASHG2014）
- Place of Presentation
  サンディエゴ（米カリフォルニア）
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25670261

1. 幸田尚

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

YATSUKA YUKIKO 八塚 由紀子

Research Projects

Research Products

Co-Researchers

Establishment of an intronic variant evaluation system aimed at improving the diagnosis rate of mitochondrial disease.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Mitochondrial disease gene analysis focusing on RNA splicing abnormalitiesPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Development of mutagenesis to the mitochondrial DNA using artificial restriction enzyme and application to definitive diagnosis.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Book] ミトコンドリア 疾患治療の新時代 第2章 I-1 ミトコンドリア病の遺伝子診断と病態解析2023

Author(s)

Total Pages

Publisher

ISBN

Data Source

[Book] 生体の科学 74巻5号 ミトコンドリア病の病態解明と治療法の開発2023

Author(s)

Total Pages

Publisher

Data Source

[Book] 特集 症例から学ぶミトコンドリア病 [総論] ミトコンドリアDNA変異と遺伝子診断の実際2022

Author(s)

Total Pages

Publisher

Data Source

[Journal Article] Strategic validation of variants of uncertain significance in ECHS1 genetic testing2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Novel ITPA variants identified by whole genome sequencing and RNA sequencing2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain deficiency.2016

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.2014

Author(s)

Journal Title

DOI

Data Source

[Presentation] Efforts aimed at early genetic diagnosis of suspected mitochondrial diseases: Application of whole blood RNA sequencing2023

Author(s)

Organizer

Data Source

[Presentation] 【ミトコンドリア病遺伝子パネル】累計556症例の解析 および 保険診療体制の整備2023

Author(s)

Organizer

Data Source

[Presentation] ミトコンドリア病遺伝学検査2023

Author(s)

Organizer

Data Source

[Presentation] RNAシーケンスから明らかになった7番染色体部分欠失を伴うSengers症候群の一症例2022

Author(s)

Organizer

Data Source

[Presentation] ミトコンドリア病を対象とした遺伝子パネルシーケンス2022

Author(s)

Organizer

Data Source

[Presentation] 全エキソーム解析で病因を同定したミトコンドリア呼吸鎖異常症の出生前遺伝子診断2015

Author(s)

YATSUKA YUKIKO 八塚由紀子

[Book] ミトコンドリア疾患治療の新時代第2章 I-1 ミトコンドリア病の遺伝子診断と病態解析2023

[Book] 生体の科学 74巻5号ミトコンドリア病の病態解明と治療法の開発2023

[Book] 特集症例から学ぶミトコンドリア病 [総論] ミトコンドリアDNA変異と遺伝子診断の実際2022

[Presentation] 【ミトコンドリア病遺伝子パネル】累計556症例の解析および保険診療体制の整備2023