OKAZAKI ATSUKO 岡崎敦子 (今井敦子)

… Alternative Names

Imai-Okazaki Atsuko 岡崎敦子

今井敦子

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Researcher Number	70761691
Other IDs	https://orcid.org/0000-0002-7517-2881
Affiliation (Current)	2025: 順天堂大学, 大学院医学研究科, 准教授
Affiliation (based on the past Project Information) *help	2024: 順天堂大学, 医学(系)研究科(研究院), 准教授 2021 – 2024: 順天堂大学, 大学院医学研究科, 准教授 2020: 順天堂大学, 医学(系)研究科(研究院), 准教授 2018 – 2019: 順天堂大学, 医学(系)研究科(研究院), 非常勤講師 2017 – 2018: 大阪大学, 医学系研究科, 特任助教 2016 – 2017: 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 / Cardiovascular medicine Except Principal Investigator Basic Section 57060:Surgical dentistry-related / Basic Section 49010:Pathological biochemistry-related / System genome science
Keywords	Principal Investigator ヘテロプラスミー率 / ミトコンドリアDNA / ミトコンドリア心筋症 / 心筋症 / ミトコンドリア病 / ヘテロプラスミー / digital PCR / 遺伝性心筋症 / エクソーム解析 / 原因遺伝子同定 … More / 遺伝統計解析 / シングルセル / シングルセル解析 / 変異ミトコンドリアDNA率（ヘテロプラスミー率） / 非侵襲的診断法 / 網羅的遺伝子検査 / 染色体異常 / 染色体構造異常 / 疾患変異 / バイオインフォマティクス / 原因遺伝子探索 / ゲノム解析 / 遺伝統計 / 網羅的遺伝子解析 / 遺伝統計学 / 遺伝学 / ゲノム / 心臓 / 臨床 / 全ゲノム解析 / 染色体欠失同定 / 遺伝性心疾患 … More Except Principal Investigator 遺伝子変異 / ケイ素 / 遺伝子解析 / エンテーシス / 咀嚼筋 / 腱 / 咬筋腱膜 / 側頭筋腱 / 全ゲノムシークエンス / 腱細胞 / 変異遺伝子 / 咀嚼筋腱・腱膜過形成症 / 心筋 / 皮膚線維芽細胞 / シングルセル / ヘテロプラスミー率 / ミトコンドリア病 / 解析アプリ / 連鎖不平衡 / ゲノム解析技術 / シーケンサ / データベース / 解析ソフトウェア / ヒト疾患関連変異 / マイクロアレイ / 次世代シーケンサ / ゲノム解析 Less

ミトコンドリア心筋症のシングルセルレベルでの変異率のばらつきに対する治療法の確立Principal Investigator
- Principal Investigator
  
  岡崎敦子 (今井敦子)
- Project Period (FY)
  2024
- Research Category
  
  Fund for the Promotion of Joint International Research (Fostering Joint International Research)
- Review Section
  
  Basic Section 53020:Cardiology-related
- Research Institution
  Juntendo University
シングルセル解析を用いたミトコンドリア心筋症の病態解明および治療法の開発Principal Investigator
- Principal Investigator
  
  岡崎敦子 (今井敦子)
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 53020:Cardiology-related
- Research Institution
  Juntendo University
１細胞レベルのミトコンドリアヘテロプラスミー率の分布と伝搬および機能解析
- Principal Investigator
  
  新田和広
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 49010:Pathological biochemistry-related
- Research Institution
  Juntendo University
疾患解明アプローチによる筋・骨組織の機能回復を目指した腱組織再生の分子基盤解析
- Principal Investigator
  
  依田哲也
- Project Period (FY)
  2021 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 57060:Surgical dentistry-related
- Research Institution
  Tokyo Medical and Dental University
Establishment of novel non-invasive diagnostic methods for mitochondrial cardiomyopathyPrincipal Investigator
- Principal Investigator
  
  OKAZAKI ATSUKO
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 53020:Cardiology-related
- Research Institution
  Juntendo University
Improvement of diagnostic rate of mitochondrial cardiomyopathy by novel statistical approachesPrincipal Investigator
- Principal Investigator
  
  Okazaki Atsuko
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 53020:Cardiology-related
- Research Institution
  Juntendo University
Development of an integrated data-processing environment for disease-related genome analysis
- Principal Investigator
  
  NAKAYA Akihiro
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  System genome science
- Research Institution
  Osaka University
Development and clinical application of a novel method for identifying genes related to cardiovascular diseasesPrincipal Investigator
- Principal Investigator
  
  Imai-Okazaki Atsuko
- Project Period (FY)
  2016 – 2017
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Cardiovascular medicine
- Research Institution
  Osaka University

All 2023 2022 2021 2020 2019 2018 2017 2016

All Journal Article Presentation

[Journal Article] Genetic Landscape of Masticatory Muscle Tendon Aponeurosis Hyperplasia2023
- Author(s)
  Tajima R, Okazaki A, Sato T, Ozaki K, Motooka D, Okazaki Y, Yoda T
- Journal Title
  
  Genes
  
  Volume: 14(9) Issue: 9 Pages: 1718-1718
- DOI
  10.3390/genes14091718
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K21493
[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] Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family2023
- Author(s)
  Sayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, Katsumi Arai, Hiroyoshi Koide, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yasushi Okazaki, Kei Murayama, Chikahiko Numakura, Yuko Akioka, Akira Ohtake, Hitoshi Osaka, Akira Ohtake, Kei Murayama, Yasushi Okazaki
- Journal Title
  
  Mol Genet Metab Rep
  
  Volume: 35 Pages: 100966-100966
- DOI
  10.1016/j.ymgmr.2023.100966
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K07488
[Journal Article] Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G>A2022
- Author(s)
  Masaru Shimura, Takanori Onuki, Yohei Sugiyama, Tetsuro Matsuhashi, Tomohiro Ebihara, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Kazuhiro R Nitta, Atsuko Imai-Okazaki, Yukiko Yatsuka, Yoshihito Kishita, Akira Ohtake, Yasushi Okazaki, Kei Murayama
- Journal Title
  
  Mitochondrion.
  
  Volume: 63 Pages: 1-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08497
[Journal Article] Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report2022
- Author(s)
  Kashiki Tomoko、Kido Jun、Momosaki Ken、Kusunoki Shouichirou、Ozasa Shiro、Nomura Keiko、Imai-Okazaki Atsuko、Tsuruoka Tomoko、Murayama Kei、Koga Yasutoshi、Nakamura Kimitoshi
- Journal Title
  
  Brain and Development
  
  Volume: 44 Issue: 1 Pages: 56-62
- DOI
  10.1016/j.braindev.2021.08.005
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08497
[Journal Article] Machine learning approaches to explore digenic inheritance.2022
- Author(s)
  Okazaki A, Ott J.
- Journal Title
  
  Trends Genet.
  
  Volume: 38 Pages: 1013-1018
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08497
[Journal Article] Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease2022
- Author(s)
  Imai-Okazaki A, Nitta KR, Yatsuka Y, Sugiura A, Arao M, Shimura M, Ebihara T, Onuki T, Ichimoto K, Ohtake A, Murayama K, Okazaki Y.
- Journal Title
  
  J Inherit Metab Dis.
  
  Volume: 45 Issue: 6 Pages: 1143-1150
- DOI
  10.1002/jimd.12547
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08497
[Journal Article] Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion2022
- Author(s)
  Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Ichimoto K, Naruke Y, Akiyama N, Lim SC, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Okazaki A, Ohtake A, Okazaki Y, Murayama K.
- Journal Title
  
  Mol Genet Metab Rep.
  
  Volume: 33 Pages: 100912-100912
- DOI
  10.1016/j.ymgmr.2022.100912
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08497
[Journal Article] Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G?>?A2022
- Author(s)
  Shimura M, Onuki T, Sugiyama Y, Matsuhashi T, Ebihara T, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Nitta KR, Imai-Okazaki A, Yatsuka Y, Kishita Y, Ohtake A, Okazaki Y, Murayama K.
- Journal Title
  
  Mitochondrion
  
  Volume: 63 Pages: 1-8
- DOI
  10.1016/j.mito.2021.12.005
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03624, KAKENHI-PROJECT-20K08497
[Journal Article] Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis2021
- Author(s)
  Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Matsuhashi T, Ichimoto K, Matsunaga A, Akiyama N, Ogawa-Tominaga M, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Imai-Okazaki A, Ohtake A, Okazaki Y, Murayama K.
- Journal Title
  
  Archives of Disease in Childhood - Fetal and Neonatal Edition
  
  Volume: 107 Issue: 3 Pages: 329-334
- DOI
  10.1136/archdischild-2021-321633
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-20H05519, KAKENHI-PROJECT-19H03624, KAKENHI-PROJECT-20K08497
[Journal Article] Clinical heterogeneity in patients with m.4412G?>?A MT-TM mutation and different heteroplasmy levels2021
- Author(s)
  Imai-Okazaki Atsuko、Yagi Nobuyasu、Nitta Kazuhiro R.、Murayama Kei、Ohtake Akira、Okazaki Yasushi
- Journal Title
  
  Mitochondrion
  
  Volume: 59 Pages: 214-215
- DOI
  10.1016/j.mito.2021.06.001
- Data Source
  KAKENHI-PROJECT-20K08497
[Journal Article] Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.2021
- Author(s)
  Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y.
- Journal Title
  
  International Journal of Cardiology
  
  Volume: 341 Pages: 48-55
- DOI
  10.1016/j.ijcard.2021.06.042
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08529, KAKENHI-PUBLICLY-20H05519, KAKENHI-PROJECT-19H03624, KAKENHI-PROJECT-19K06629, KAKENHI-PROJECT-20K08497
[Journal Article] Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits2021
- Author(s)
  Okazaki Atsuko、Horpaopan Sukanya、Zhang Qingrun、Randesi Matthew、Ott Jurg
- Journal Title
  
  Genes
  
  Volume: 12 Issue: 8 Pages: 1160-1160
- DOI
  10.3390/genes12081160
- Data Source
  KAKENHI-PROJECT-20K08497
[Journal Article] Population genetics: past, present, and future2020
- Author(s)
  Okazaki Atsuko、Yamazaki Satoru、Inoue Ituro、Ott Jurg
- Journal Title
  
  Human Genetics
  
  Volume: 140 Issue: 2 Pages: 231-240
- DOI
  10.1007/s00439-020-02208-5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K09408, KAKENHI-PROJECT-20K08497, KAKENHI-PROJECT-18K15863
[Journal Article] Mortality of Japanese Patients With Leigh Syndrome: Effects of Age at Onset and Genetic Diagnosis2020
- Author(s)
  Ogawa E, Fushimi T, Ogawa-Tominaga M, Shimura M, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Kishita Y, Kohda M, Imai-Okazaki A, Okazaki Y, Morioka I, Ohtake A, Murayama K.
- Journal Title
  
  J Inherit Metab Dis
  
  Volume: - Issue: 4 Pages: 819-826
- DOI
  10.1002/jimd.12218
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K15863, KAKENHI-PROJECT-19H03624, KAKENHI-PUBLICLY-20H05519
[Journal Article] Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.2019
- Author(s)
  Imai-Okazaki A, Kishita Y, Kohda M, Mizuno Y, Fushimi T, Matsunaga A, Yatsuka Y, Hirata T, Harashima H, Takeda A, Nakaya A, Sakata Y, Kogaki S, Ohtake A, Murayama K, Okazaki Y.
- Journal Title
  
  Int J Cardiol
  
  Volume: 279 Pages: 115-121
- DOI
  10.1016/j.ijcard.2019.01.017
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K15863, KAKENHI-PROJECT-16K07222, KAKENHI-PROJECT-16K09973, KAKENHI-PROJECT-19K08529
[Journal Article] Heterozygosity mapping for human dominant trait variants2019
- Author(s)
  Imai‐Okazaki A,Li Y, Horpaopan S, Riazalhosseini Y, Garshasbi M, Mosse YP, Zhang D, Schrauwen I, Sharma A, Fann CS, Leal SM, Lathrop M, Ott J
- Journal Title
  
  Hum Mutat
  
  Volume: 印刷中 Pages: 996-1004
- DOI
  10.1002/humu.23765
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K15863
[Journal Article] Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy2019
- Author(s)
  Hodatsu A, Fujino N, Uyama Y, Tsukamoto O, Imai-Okazaki A, Yamazaki S, Seguchi O, Konno T, Hayashi K, Kawashiri MA, Asano Y, Kitakaze M, Takashima S, Yamagishi M
- Journal Title
  
  ESC Heart Fail
  
  Volume: 6 Issue: 2 Pages: 06-415
- DOI
  10.1002/ehf2.12410
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K09578, KAKENHI-PROJECT-18K08100, KAKENHI-PROJECT-18H04050, KAKENHI-PROJECT-15K09111, KAKENHI-PROJECT-15KK0302, KAKENHI-PROJECT-15H04826, KAKENHI-PROJECT-19K08553, KAKENHI-PROJECT-19K09408, KAKENHI-PROJECT-18K15863, KAKENHI-PROJECT-17K09082, KAKENHI-PROJECT-18K19547, KAKENHI-PROJECT-19H03652
[Journal Article] Barth syndrome: Different approaches to diagnosis2018
- Author(s)
  Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, & Okazaki Y
- Journal Title
  
  Journal of Pediatrics
  
  Volume: 193 Pages: 256-260
- DOI
  10.1016/j.jpeds.2017.09.075
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K07222, KAKENHI-PROJECT-16K09973, KAKENHI-PROJECT-15K09679, KAKENHI-PROJECT-15K09685, KAKENHI-PROJECT-16K19404, KAKENHI-PROJECT-18K07785
[Journal Article] Genetic Linkage Mapping2018
- Author(s)
  Imai-Okazaki Atsuko、Ott Jurg
- Journal Title
  
  eLS. John Wiley & Sons, Ltd: Chichester.
  
  Volume: 1 Pages: 1-5
- DOI
  10.1002/9780470015902.a0005360.pub2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K19404
[Journal Article] HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing2017
- Author(s)
  Imai-Okazaki A, Kohda M, Kobayashi K, Hirata T, Sakata Y, Murayama K, Ohtake A, Okazaki Y, Nakaya A, & Ott J
- Journal Title
  
  Human Mutation
  
  Volume: 38 Issue: 12 Pages: 1796-1800
- DOI
  10.1002/humu.23298
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K07222, KAKENHI-PROJECT-16K19404
[Journal Article] Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy2016
- Author(s)
  Imai A, Kishita Y, Nakayama Y, Fujita S, Futatani T, Kohda M, Yatsuka Y, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y
- Journal Title
  
  International Journal of Cardiology
  
  Volume: 221 Pages: 446-449
- DOI
  10.1016/j.ijcard.2016.06.287
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-16K07222, KAKENHI-PROJECT-16K09973, KAKENHI-PROJECT-16K19404
[Journal Article] HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families2016
- Author(s)
  Imai A, Kohda M, Nakaya A, Sakata Y, Murayama K, Ohtake A, Lathrop M, Okazaki Y, Ott J
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 61 Issue: 11 Pages: 959-963
- DOI
  10.1038/jhg.2016.85
- NAID
  40021000514
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K07222, KAKENHI-PROJECT-16K19404
[Presentation] Genetic Background and Clinical Presentation of Cardiomyopathy in 313 Mitochondrial Disease Patients2023
- Author(s)
  Atsuko Okazaki, Atsuhito Takeda, Akira Ohtake, Yasushi Okazaki
- Organizer
  第87回日本循環器学会学術集会
- Data Source
  KAKENHI-PROJECT-20K08497
[Presentation] enetic Background and long-term prognosis of cardiomyopathy in 313 Mitochondrial Disease Patients2023
- Author(s)
  Atsuko Okazaki, Ayako Matsunaga, Yukiko Yatsuka, Yoshihito Kishita, Ayumu Sugiura, Yohei Sugiyama, Takuya Fushimi, Masaru Shimura, Keiko Ichimoto, Makiko Tajika, Tomohiro Ebihara, Tetsuro Matsuhashi, Tomoko Tsuruoka, Tomoko Hirata, Atsuhito Takeda, Akira Ohtake, Kei Murayama,, Yasushi Okazaki
- Organizer
  日本人類遺伝学会第68回大会（HGA2023合同開催）
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K07488
[Presentation] Impact of measuring heteroplasmy of causative mitochondrial DNA variants at the single-cell level in patients with mitochondrial disease2023
- Author(s)
  Atsuko Imai-Okazaki, Yukiko Yatsuka, Ayumu Sugiura,Masato Arao, Masaru Shimura, Tomohiro Ebihara, Takanori Onuki, Keiko Ichimoto, Akira Ohtake, Kei Murayama, Yasushi Okazaki
- Organizer
  The 23th Annual Meeting of KSIMD
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K07488
[Presentation] 分節重複領域に存在する染色体部分欠失に対する遺伝統計学的アプローチ2023
- Author(s)
  Kohta Nakamura, Atsuko Imai-Okazakia, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yukiko Yatsuka, Masaru Shimura, Tomohiro Ebihara, Takanori Onuki, Keiko Ichimoto, Akira Ohtake, Kei Murayama, Yasushi Okazaki
- Organizer
  2023年日本バイオインフォマティクス学会年会・第12回生命医薬情報学連合大会（IIBMP2023）
- Data Source
  KAKENHI-PROJECT-23K07488
[Presentation] Neonatal-Onset Mitochondrial Disease: Clinical Features, Molecular Diagnosis, and Prognosi2022
- Author(s)
  Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Tetsuro Matsuhashi, Keiko Ichimoto, Ayako Matsunaga, Nana Akiyama, Yukiko Yatsuka, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
- Organizer
  SSIEM Annual Symposium
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08497
[Presentation] Validation and diagnosis of novel variants of mitochondrial diseases associated with the ECHS1 gene2022
- Author(s)
  Kishita Y, Sugiura A, Onuki T, Ebihara T, Matsuhashi T, Shimura M, Fushimi T, Ichino N, Nagatakidani Y, Nishihata H, Nitta KR, Yatsuka Y, Imai-Okazaki A, Yibo W, Osaka H, Ohtake A, Murayama K, Okazaki Y.
- Organizer
  第45回日本分子生物学会年会,
- Data Source
  KAKENHI-PROJECT-20K08497
[Presentation] Different mitochondrial DNA heteroplasmy distribution at the single-cell leven in MELAS2022
- Author(s)
  Okazaki A, Yatuka Y, Arao M, Shimura M, Ebihara T, Onuki T, Ichimoto K, Ohtake A
- Organizer
  第63回日本先天代謝異常学会学術集会/第18回アジア先天代謝異常症シンポジウム
- Invited
- Data Source
  KAKENHI-PROJECT-20K08497
[Presentation] Maternally inherited deafness, epilepsy and mental retardation is associated with m.12207G>A MT-TS2 mutation in a Japanese family2022
- Author(s)
  Sayaka Ajihara, Megumi Tsuruoka, Hiroko Harashima, Torayuki Okuyama, Yukiko Yatsuka, Atuko Okazaki, Yasushi Okazaki, Kei Murayama, Yuko Akioka, Akira Ohtake
- Organizer
  SSIEM Annual Symposium
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08497
[Presentation] 小児ミトコンドリア病223症例における心筋症の遺伝的基盤および長期予後に関する検討2021
- Author(s)
  岡崎敦子
- Organizer
  第30回日本小児心筋疾患学会
- Data Source
  KAKENHI-PROJECT-20K08497
[Presentation] Long-term prognosis and genetic background in 223 children with mitochondrial disease2021
- Author(s)
  Atsuko Okazaki
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-20K08497
[Presentation] Prognosis and Genetic Background of Mitochondrial Cardiomyopathy in 223 Mitochondrial Disease Patients2020
- Author(s)
  Atsuko Okazaki
- Organizer
  84th Annual Scientific Meeting of the Japanese Circulation Society
- Data Source
  KAKENHI-PROJECT-20K08497
[Presentation] Prognosis and Genetic Background of Mitochondrial Cardiomyopathy in 223 Mitochondrial Disease Patients2020
- Author(s)
  Atsuko Okazaki
- Organizer
  84th Annual Scientific Meeting of the Japanese Circulation Society
- Data Source
  KAKENHI-PROJECT-18K15863
[Presentation] Cost-effective clinical sequencing platform: from screening mitochondrial DNA mutations to chromosomal deletions2019
- Author(s)
  Atsuko Imai-Okazaki
- Organizer
  11th annual NGS and clinical diagnosis conference
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K15863
[Presentation] Cardiomyopathy in children with mitochondrial disease: prognosis and genetic background2019
- Author(s)
  Atsuko Imai-Okazaki, Yoshihito Kishita, Masakazu Kohda, Yosuke Mizuno, Takuya Fushimi, Ayako Matsunaga, Yukiko Yatsuka, Tomoko Hirata, Hiroko Harashima, Atsuhito Takeda, Akihiro Nakaya, Yasushi Sakata, Shigetoyo Kogaki, Akira Ohtake, Kei Murayama, Yasushi Okazaki
- Organizer
  2019 ACMG annual clinical genetics meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K15863
[Presentation] Cardiomyopathy in children with mitochondrial disease: prognosis and genetic background2019
- Author(s)
  Atsuko Imai-Okazaki, Yoshihito Kishita, Masakazu Kohda, Yosuke Mizuno, Takuya Fushimi, Ayako Matsunaga, Yukiko Yatsuka, Tomoko Hirata, Hiroko Harashima, Atsuhito Takeda, Akihiro Nakaya, Yasushi Sakata, Shigetoyo Kogaki, Akira Ohtake, Kei Murayama, Yasushi Okazaki
- Organizer
  2019 ACMG Annual Clinical Genetics Meeting
- Data Source
  KAKENHI-PROJECT-18K15863
[Presentation] Cardiomyopathy in 137 Children with Mitochondrial Disease: Prognosis and Genetic Background2019
- Author(s)
  Atsuko Imai-Okazaki, Atsuhito Takeda, Yasushi Sakata, Shigetoyo Kogaki, Akira Ohtake, Yasushi Okazaki
- Organizer
  第83回日本循環器学会学術集会
- Data Source
  KAKENHI-PROJECT-18K15863
[Presentation] Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATP synthesis2017
- Author(s)
  今井敦子, 藤田修平, 中山祐子, 武田充人, 坂田泰史, 大竹明, 岡崎康司
- Organizer
  第52回日本小児循環器学会総会・学術集会
- Data Source
  KAKENHI-PROJECT-16K19404
[Presentation] Genetic analysis of rapidly progressive mitochondrial cardiomyopathy with loss of ATP synthesis2017
- Author(s)
  Atsuko Imai, Yuko Nakayama, Shuhei Fujita, Yasushi Sakata, Akira Ohtake, Yasushi Okazaki
- Organizer
  第81回日本循環器学会学術集会
- Data Source
  KAKENHI-PROJECT-16K19404
[Presentation] Genetic analysis of mitochondrial disorder2017
- Author(s)
  Kohda M, Kishita Y, Mizuno Y, Imai A, Nakaya A, Hirata T, Yatsuka Y, Borna NN, Harashima H, Murayama K, Ohtake A, Okazaki Y
- Organizer
  第5回生命医薬情報学連合大会
- Data Source
  KAKENHI-PROJECT-16K19404
[Presentation] ミトコンドリア病を疑う集団におけるゲノム解析2017
- Author(s)
  神田将和, 木下善人, 水野洋介, 今井敦子, 中谷明弘, 平田智子, 八塚由紀子, Nurun N. Borna, 原嶋宏子, 村山圭, 大竹明, 岡崎康司
- Organizer
  NGS現場の会第五回研究会
- Data Source
  KAKENHI-PROJECT-16K07222
[Presentation] エクソーム解析基盤を用いた日本人変異解析における解析手法の検証と可視化2017
- Author(s)
  小林香織, 今井敦子, 山崎悟, 菊地正隆, 足尾勉, 上條憲一, 松村泰志, 中谷明弘
- Organizer
  第40回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-16K19404
[Presentation] エクソーム解析基盤を用いた日本人変異解析における解析手法の検証と可視化2017
- Author(s)
  小林香織, 今井敦子, 山崎悟, 菊地正隆, 足尾勉, 上條憲一, 松村泰志, 中谷明弘
- Organizer
  第40回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-16K07222
[Presentation] Genetic analysis of mitochondrial disorder2017
- Author(s)
  Kohda M, Kishita Y, Mizuno Y, Imai A, Nakaya A, Hirata T, Yatsuka Y, Borna NN, Harashima H, Murayama K, Ohtake A, & Okazaki Y
- Organizer
  第5回生命医薬情報学連合大会
- Data Source
  KAKENHI-PROJECT-16K07222
[Presentation] 進行性の乳児心筋症におけるミトコンドリアDNA変異同定およびATP合成酵素欠損の証明2016
- Author(s)
  今井敦子, 藤田修平, 木下善仁, 神田将和, 八塚由紀子, 中山祐子, 二谷武, 平田智子, 水野洋介, 原嶋宏子, 中谷明弘, 坂田泰史, 武田充人, 森雅人, 村山圭, 大竹明, 岡崎康司
- Organizer
  第25回日本小児心筋疾患学会
- Place of Presentation
  東京都医師会館（東京都千代田区）
- Year and Date
  2016-10-08
- Data Source
  KAKENHI-PROJECT-16K19404
[Presentation] Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency2016
- Author(s)
  Atsuko Imai, Yoshihito Kishita, Yuko Nakayama, Shuhei Fujita, Takeshi Futatani, Masakazu Kohda, Yukiko Yatsuka, Akihiro Nakaya, Yasushi Sakata, Kei Murayama, Akira Ohtake, Yasushi Okazaki
- Organizer
  第13回アジアミトコンドリア学会
- Place of Presentation
  TKPガーデンシティ品川（東京都港区）
- Year and Date
  2016-10-30
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K19404
[Presentation] Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATP synthesis2016
- Author(s)
  今井敦子, 藤田修平, 中山祐子, 武田充人, 坂田泰史, 大竹明, 岡崎康司
- Organizer
  第52回日本小児循環器学会総会・学術集会
- Place of Presentation
  東京ドームホテル（東京都文京区）
- Year and Date
  2016-07-07
- Data Source
  KAKENHI-PROJECT-16K19404

1. NAKAYA Akihiro (60301149)

# of Collaborated Projects: 1 results

# of Collaborated Products: 7 results
2. 菊地正隆 (90722538)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
3. 山崎悟 (70348796)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
4. 新田和広 (20770910)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. 依田哲也 (60242210)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
6. 二藤彰 (00240747)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. 佐藤毅 (60406494)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
8. 尾崎心 (10754765)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
9. 儀武啓幸 (40376752)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. 佐久間朋美 (70633733)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. KOBAYASHI kaori

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
12. ASANO Yoshihiro

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. TSUKAMOTO Osamu

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
14. 木下善仁

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
15. 武田充人

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
16. 八塚由紀子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
17. 岡崎康司

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

OKAZAKI ATSUKO 岡崎 敦子 (今井 敦子)

Imai-Okazaki Atsuko 岡崎 敦子

今井 敦子

今井敦子

Research Projects

Research Products

Co-Researchers

ミトコンドリア心筋症のシングルセルレベルでの変異率のばらつきに対する治療法の確立Principal Investigator

Principal Investigator

Project Period (FY)

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Research Institution

シングルセル解析を用いたミトコンドリア心筋症の病態解明および治療法の開発Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

１細胞レベルのミトコンドリアヘテロプラスミー率の分布と伝搬および機能解析

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

疾患解明アプローチによる筋・骨組織の機能回復を目指した腱組織再生の分子基盤解析

Principal Investigator

Project Period (FY)

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Review Section

Research Institution

Establishment of novel non-invasive diagnostic methods for mitochondrial cardiomyopathyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Improvement of diagnostic rate of mitochondrial cardiomyopathy by novel statistical approachesPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Development of an integrated data-processing environment for disease-related genome analysis

Principal Investigator

Project Period (FY)

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Research Field

Research Institution

Development and clinical application of a novel method for identifying genes related to cardiovascular diseasesPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

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Research Institution

[Journal Article] Genetic Landscape of Masticatory Muscle Tendon Aponeurosis Hyperplasia2023

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

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DOI

Data Source

[Journal Article] Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G>A2022

Author(s)

Journal Title

Data Source

[Journal Article] Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Machine learning approaches to explore digenic inheritance.2022

OKAZAKI ATSUKO 岡崎敦子 (今井敦子)

Imai-Okazaki Atsuko 岡崎敦子

今井敦子

[Journal Article] Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G?>?A2022

[Journal Article] Clinical heterogeneity in patients with m.4412G?>?A MT-TM mutation and different heteroplasmy levels2021