Okazaki Atsuko

オカザキアツコ | Okazaki Atsuko

Affiliation and department：
Job title： Associate Professor
Other affiliations (3)：

国立国際医療研究センターメディカルゲノムセンターゲノム医療研究推進室長
マギル大学ゲノムセンター客員教授
ロックフェラー大学遺伝統計学教室客員研究員

Research field (6)： Statistical science , Fetal medicine/Pediatrics , Molecular biology , Genomics , Medical biochemistry , Cardiology

Research keywords (8)： mitochondrial disease , Human Genetics , 人類遺伝学 , Bioinformatics , Statistical Genetics , Cardiology , Clinical genetics , Genome informatics

Research theme for competitive and other funds (7)：

2021 - 2026 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
2022 - 2025 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
2020 - 2023 非侵襲的検体を用いたミトコンドリア心筋症の新規診断法の確立
2018 - 2020 新規疾患変異・染色体異常同定ツールを用いたミトコンドリア心筋症の診断率向上
2016 - 2019 疾患に関連するゲノム解析のための統合化された情報処理基盤の構築

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Papers (59)：

Hideo Saotome, Yukiko Yatsuka, Osamu Minowa, Kei Shinotsuka, Katsuharu Tsuchida, Hitomi Hirose, Kotaro Dai, Hisako Tokuno, Tomohiro Hayakawa, Hidenori Hiranuma, et al. Microstripe pattern substrate consisting of alternating planar and nanoprotrusive regions improved hiPSC-derived cardiomyocytes’ unidirectional alignment and functional properties. Biomedical Materials. 2024
Sayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, Katsumi Arai, Hiroyoshi Koide, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yasushi Okazaki, Kei Murayama, Chikahiko Numakura, et al. Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family. Molecular genetics and metabolism reports. 2023. 35. 100966-100966
Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, et al. Strategic validation of variants of uncertain significance in ECHS1 genetic testing. Journal of medical genetics. 2023
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama, et al. Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion. Molecular genetics and metabolism reports. 2022. 33. 100912-100912
Atsuko Imai-Okazaki, Kazuhiro R Nitta, Yukiko Yatsuka, Ayumu Sugiura, Masato Arao, Masaru Shimura, Tomohiro Ebihara, Takanori Onuki, Keiko Ichimoto, Akira Ohtake, et al. Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease. Journal of inherited metabolic disease. 2022. 45. 6. 1143-1150

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MISC (9)：

中村弘太, 杉浦歩, 岡崎敦子, 白石友一, 木下善仁, 木下善仁, 八塚由紀子, 松本直之, 大竹明, 大竹明, et al. Identification of novel mitochondrial disease-causing genes through deep intronic variant exploration. 日本分子生物学会年会プログラム・要旨集(Web). 2023. 46th
Satoru Takahashi, Sei Komatsu, Mitsuhiko Takewa, Junichi Yoshida, Yasuhiko Kobayashi, Atsuko Imai, Hitoshi Minamiguchi, Tomoki Ohara, Kazuhisa Kodama. PREVALENCE OF PLAQUE RUPTURE IS HIGHER IN PATIENTS WITH AORTIC DILATATION: FIRST OBSERVATION OF THE EARLY STAGE OF ANEURISMAL FORMATION WITH NON-OBSTRUCTIVE ANGIOSCOPY. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. 2015. 65. 10. A2113-A2113
Atsuko Imai, Jurg Ott, Yoshihiro Asano, Satoru Yamazaki, Yasushi Sakata, Seiji Takashima. Novel Family-control Analysis Can Highly Prioritize Sequence Variants in Familial Cardiomyopathy. JOURNAL OF CARDIAC FAILURE. 2014. 20. 10. S145-S145
Sei Komatsu, Atsuko Imai, Mitsuhiko Takewa, Hitoshi Minamiguchi, Tomoki Ohara, Kazuhisa Kodama. Distribution of Low CT Number Area is Dominant and Wide in Vessel Containing Vulnerable Plaque - Vessel-wide Cross-sectional Scannning by Multi-detector Row Computed Tomography. CIRCULATION. 2012. 126. 21
Atsuko Imai, Sei Komatsu, Tomoki Ohara, Teruaki Kamata, Jyunichi Yoshida, Kazuaki Miyaji, Mitsuhiko Takewa, Kazuhisa Kodama. Visceral Abdominal Fat as a Marker of Accelerated Progression of Noncalcified Coronary Plaque. CIRCULATION. 2012. 126. 21

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Patents (1)：

ゲノム解析装置、ゲノム解析方法/ゲノム解析プログラム

Education (3)：

- 2017 Manchester University Department of Public Health
2012 - 2015 Osaka University Graduate School of Medicine
1999 - 2005 Kobe University School of Medicine Faculty of Medicine

Professional career (3)：

M.D. (神戸大学)
Ph.D. (大阪大学)
M.P.H. (マンチェスター大学)

Awards (5)：

2015/09 - 大阪大学大学院医学系研究科博士課程・優秀者
2015/03 - 日本学術振興会 the 7th HOPE meeting Best Poster Award
2014/10 - 日本心不全学会 Young Investigator Award
2012/05 - 日本高血圧学会 Young Investigator Award
2011/11 - Harvard University Clinical Research Scholar Award

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