• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Comprehensive analysis of of aberrant gene expression in mitochondrial disorders

Research Project

Project/Area Number 19H03624
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Review Section Basic Section 52050:Embryonic medicine and pediatrics-related
Research InstitutionJuntendo University

Principal Investigator

OkazakiOkazaki Yasushi  順天堂大学, 大学院医学研究科, 教授 (80280733)

Co-Investigator(Kenkyū-buntansha) 木下 善仁  近畿大学, 理工学部, 講師 (20634398)
Wu Yibo  国立研究開発法人理化学研究所, 生命医科学研究センター, 上級研究員 (50811618)
Project Period (FY) 2019-04-01 – 2022-03-31
Project Status Completed (Fiscal Year 2021)
Budget Amount *help
¥17,550,000 (Direct Cost: ¥13,500,000、Indirect Cost: ¥4,050,000)
Fiscal Year 2021: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2020: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥8,190,000 (Direct Cost: ¥6,300,000、Indirect Cost: ¥1,890,000)
Keywordsミトコンドリア病 / 全エクソーム解析 / 全ゲノム解析 / プロテオーム / RNAシーケンス / マルチオミクス
Outline of Research at the Start

ミトコンドリア病は先天代謝異常症としては最も頻度が高く、小児期発症の場合は重篤な症状を呈する。原因遺伝子は現在300以上報告されている。従来の全エクソーム解析法による遺伝子解析では、診断率は35%程度にとどまっており、原因特定にあたってはさらなる解析技術の導入が必須である。本研究では、RNAシーケンス、全ゲノム解析、プロテオーム解析を用いることで多角的な解析により真の原因に迫る。

Outline of Final Research Achievements

Mitochondrial disease is a general term for diseases with abnormal mitochondrial function. This disease is designated as either Intractable Disease and Specific Pediatric Chronic Diseases by the Japanese government. We have been engaged in the clinical diagnosis and genome analysis of mitochondrial diseases on the largest scale in Japan. Since there remained many cases that could not be resolved by conventional whole exome sequencing, we here used multi-omics technologies of RNA sequencing, whole genome analysis, and proteome analysis to elucidate the cause of the disease. As a result, we succeeded in finding multiple novel mutations based on WGS, RNA-seq, and proteome analysis. These results led to an improvement in the rate of genetic diagnosis.

Academic Significance and Societal Importance of the Research Achievements

近年ミトコンドリア病の診断システムが向上し、1500人に一人の割合で発症すると報告されている。希少疾患に分類されてきたが、発症頻度の高い疾患という見方をすべきであると考えられる。一方、遺伝子診断による原因遺伝子の確定率は、我々や海外の研究で約30-60%となっており、遺伝的な診断がつかない症例が残っている。一部の遺伝子異常に関しては、食事療法等が有効となることが示されており、適切な診断が予後を左右する場面が多くなってきた。オミクス技術を駆使した遺伝子診断を行うことで、未解決となっていた症例を正しく診断することができた。本研究における診断率の向上が適切な治療選択へとつながっていくと考えられる。

Report

(4 results)
  • 2021 Annual Research Report   Final Research Report ( PDF )
  • 2020 Annual Research Report
  • 2019 Annual Research Report
  • Research Products

    (48 results)

All 2022 2021 2020 2019 Other

All Int'l Joint Research (6 results) Journal Article (17 results) (of which Int'l Joint Research: 5 results,  Peer Reviewed: 17 results,  Open Access: 8 results) Presentation (21 results) (of which Int'l Joint Research: 3 results,  Invited: 7 results) Remarks (4 results)

  • [Int'l Joint Research] The Royal Children's Hospital Melbourne/Monash University(オーストラリア)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] Helmholtz Zentrum Munchen/Technical University of Munich(ドイツ)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] The Royal Children's Hospital Melbourne/Monash University(オーストラリア)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] Helmholtz Zentrum Munchen(ドイツ)

    • Related Report
      2020 Annual Research Report
  • [Int'l Joint Research] Murdoch Children's Research Institute(オーストラリア)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] Helmholtz zentrum munchen(ドイツ)

    • Related Report
      2019 Annual Research Report
  • [Journal Article] Clinical implementation of RNA sequencing for Mendelian disease diagnostics2022

    • Author(s)
      Yepez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Haberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y et al.
    • Journal Title

      Genome Medicine

      Volume: 14 Issue: 1 Pages: 38-38

    • DOI

      10.1186/s13073-022-01019-9

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [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

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Valine metabolites analysis in ECHS1 deficiency2021

    • Author(s)
      Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Matsumoto N, Okazaki Y, Ogata T, Yamagata T, Muramatsu K.
    • Journal Title

      Molecular Genetics and Metabolism Reports

      Volume: 29 Pages: 100809-100809

    • DOI

      10.1016/j.ymgmr.2021.100809

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [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

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.2021

    • Author(s)
      Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta KR, Yatsuka Y, Hirose S, Ideguchi H, Ohtake A, Murayama K, Okazaki Y.
    • Journal Title

      Human Mutation

      Volume: 42 Issue: 11 Pages: 1422-1428

    • DOI

      10.1002/humu.24274

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome2021

    • Author(s)
      Kishita Yoshihito、Ishikawa Kaori、Nakada Kazuto、Hayashi Jun-Ichi、Fushimi Takuya、Shimura Masaru、Kohda Masakazu、Ohtake Akira、Murayama Kei、Okazaki Yasushi
    • Journal Title

      Scientific Reports

      Volume: 11 Issue: 1 Pages: 11123-11123

    • DOI

      10.1038/s41598-021-90196-5

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus2021

    • Author(s)
      Frazier Ann E.、Compton Alison G.、Kishita Yoshihito、Imai-Okazaki Atsuko、Nitta Kazuhiro R.、Ohtake Akira、Murayama Kei、Ryan Michael T.、Okazaki Yasushi、Stroud David A.、Simons Cas、Christodoulou John、Thorburn David R, et al.
    • Journal Title

      Med

      Volume: 2 Issue: 1 Pages: 49-73.e10

    • DOI

      10.1016/j.medj.2020.06.004

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] A novel homozygous variant in MICOS13 / QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome2020

    • Author(s)
      Kishita Yoshihito、Shimura Masaru、Kohda Masakazu、Akita Masumi、Imai‐Okazaki Atsuko、Yatsuka Yukiko、Nakajima Yoko、Ito Tetsuya、Ohtake Akira、Murayama Kei、Okazaki Yasushi
    • Journal Title

      Molecular Genetics & Genomic Medicine

      Volume: 8 Issue: 10

    • DOI

      10.1002/mgg3.1427

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency2020

    • Author(s)
      Yatsuka Yukiko、Kishita Yoshihito、Formosa Luke E.、Shimura Masaru、Nozaki Fumihito、Fujii Tatsuya、Nitta Kazuhiro R.、Ohtake Akira、Murayama Kei、Ryan Michael T.、Okazaki Yasushi
    • Journal Title

      Clinical Genetics

      Volume: 98 Issue: 2 Pages: 155-165

    • DOI

      10.1111/cge.13773

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185?T?>?C variant in the MT-ATP6 gene: Expanding the clinical spectrum2020

    • Author(s)
      Takada Rei、Tozawa Takenori、Kondo Hidehito、Kizaki Zenro、Kishita Yoshihito、Okazaki Yasushi、Murayama Kei、Ohtake Akira、Chiyonobu Tomohiro
    • Journal Title

      Brain and Development

      Volume: 42 Issue: 1 Pages: 69-72

    • DOI

      10.1016/j.braindev.2019.08.006

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C2019

    • Author(s)
      Kori Atsuko、Hori Ikumi、Tanaka Tatsushi、Aoyama Kohei、Ito Koichi、Hattori Ayako、Ban Kyoko、Okazaki Yasushi、Murayama Kei、Saitoh Shinji
    • Journal Title

      Brain and Development

      Volume: 41 Issue: 9 Pages: 803-807

    • DOI

      10.1016/j.braindev.2019.05.006

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases2019

    • Author(s)
      Shimura Masaru、Nozawa Naoko、Ogawa-Tominaga Minako、Fushimi Takuya、Tajika Makiko、Ichimoto Keiko、Matsunaga Ayako、Tsuruoka Tomoko、Kishita Yoshihito、Ishii Takuya、Takahashi Kiwamu、Tanaka Tohru、Nakajima Motowo、Okazaki Yasushi、Ohtake Akira、Murayama Kei
    • Journal Title

      Scientific Reports

      Volume: 9 Issue: 1 Pages: 10549-10549

    • DOI

      10.1038/s41598-019-46772-x

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q102019

    • Author(s)
      Kadoya T, Sakakibara A, Kitayama K, Yamada Y, Higuchi S, Kawakita R, Kawasaki Y, Fujino M, Murakami Y, Shimura M, Murayama K, Ohtake A, Okazaki Y, Koga Y, Yorifuji T.
    • Journal Title

      J Pediatr Endocrinol Metab

      Volume: 32 Issue: 10 Pages: 1181-1185

    • DOI

      10.1515/jpem-2019-0205

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis2019

    • Author(s)
      Moutaoufik Mohamed Taha、Malty Ramy、Amin Shahreen、Zhang Qingzhou、Phanse Sadhna、Gagarinova Alla、Zilocchi Mara、Hoell Larissa、Minic Zoran、Gagarinova Maria、Aoki Hiroyuki、、Murayama Kei、Okazaki Yasushi、Foster Leonard J.、Bader Gary D.、Cayabyab Francisco S.、Babu Mohan e
    • Journal Title

      iScience

      Volume: 19 Pages: 1114-1132

    • DOI

      10.1016/j.isci.2019.08.057

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing2019

    • Author(s)
      Yao Yue、Nishimura Motoi、Murayama Kei、Kuranobu Naomi、Tojo Satomi、Beppu Minako、Ishige Takayuki、Itoga Sakae、Tsuchida Sachio、Mori Masato、Takayanagi Masaki、Yokoyama Masataka、Yamagata Kazuyuki、Kishita Yoshihito、Okazaki Yasushi、Nomura Fumio、Matsushita Kazuyuki、Tanaka Tomoaki
    • Journal Title

      Scientific Reports

      Volume: 9 Issue: 1 Pages: 17411-17421

    • DOI

      10.1038/s41598-019-53449-y

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] ミトコンドリア病の網羅的遺伝子解析2021

    • Author(s)
      岡﨑康司
    • Organizer
      138回特別集談会、北海道大学大学院医学研究院 生殖・発達医学分野 小児科学教室
    • Related Report
      2021 Annual Research Report
    • Invited
  • [Presentation] 小児ミトコンドリア病223症例における長期予後および遺伝学的背景に関する検討2021

    • Author(s)
      岡崎 敦子、松永 綾子、八塚 由紀子、 新田 和広、木下 善仁、杉浦 歩、 杉山 洋平、 伏見 拓矢、志村 優、 市本 景子、田鹿 牧子、 海老原 知博、 松橋 徹郎、鶴岡 智子、 原嶋 宏子、 野尻 宗子、中谷 明弘、大竹 明、村山 圭、 岡崎 康司
    • Organizer
      日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同開催
    • Related Report
      2021 Annual Research Report
  • [Presentation] 新規のATAD3A複合ヘテロ接合性欠損による重度の脊髄低形成症2021

    • Author(s)
      海老原 知博、長友 太郎、鶴岡 智子、 成毛 有紀、 Lim Sze Chern、八塚 由紀子、 木下 善仁、伏見 拓矢、大竹 明、 岡崎 康司、村山 圭
    • Organizer
      日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同開催
    • Related Report
      2021 Annual Research Report
  • [Presentation] ミトコンドリア呼吸鎖 I欠損患者症のマルチオミクス解析から明らかになったAluを介したNDUFV2遺伝子の欠損2021

    • Author(s)
      木下 善仁、志村 優、神田 将和、伏見 拓矢、新田 和広、八塚 由紀子、大竹 明、村 山 圭、岡崎 康司
    • Organizer
      日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同開催
    • Related Report
      2021 Annual Research Report
  • [Presentation] NDUFA8のホモ接合型バリアントは発達遅滞、小頭症、てんかんを合併するミトコンドリア病を引き起こす2021

    • Author(s)
      八塚 由紀子、木下 善仁、 Luke E. Formosa、志村 優、野崎 章仁、藤井 達哉、 新田 和広、大竹 明、村山 圭 、 Michael T. Ryan、岡 崎 康司
    • Organizer
      日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同開催
    • Related Report
      2021 Annual Research Report
  • [Presentation] Comprehensive functional annotation of Japanese specific VUS in mitochondrial disease2021

    • Author(s)
      Ayumu Sugiura, Yoshihito Kishita, Tetsuro Matsuhashi, Masaru Shimura, Takanori Onuki, Tomohiro Ebihara, Kazuhiro Nitta, Atsuko Imai-Okazaki, Yukiko Yatsuka, Noriko Ichino, Takuya Fushimi, Kokoro Ozaki, Yuma Yamada, Hideyoshi Harashima, Akira Ohtake, Kei Murayama, Yasushi Okazaki
    • Organizer
      日本人類遺伝学会第66回大会、第28回日本遺伝子診療学会大会 合同開催
    • Related Report
      2021 Annual Research Report
  • [Presentation] Research and Diagnosis of mitochondrial cardiomyopathy in Japan Mitochondrial Medicine2021

    • Author(s)
      岡﨑康司
    • Organizer
      Workshop Beijing 2021,Web meeting, Beijing Children’s hospital, Capital Medical University
    • Related Report
      2021 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] ミトコンドリア機能関連遺伝子のVUSに対する網羅的な機能的アノテーション2021

    • Author(s)
      杉浦 歩、木下 善仁、松橋 徹郎、志村 優、小貫 孝則、海老原 知博、新田 和広、岡﨑 敦子、八塚 由紀子、市野 紀子、伏見 拓矢、尾崎 心、山田 勇磨、原島 秀吉、大竹 明、村山 圭、岡﨑康司
    • Organizer
      第44回日本分子生物学会年会、パシフィコ横浜
    • Related Report
      2021 Annual Research Report
  • [Presentation] ミトコンドリア機能関連遺伝子のVUSに対する網羅的な機能的アノテーション2021

    • Author(s)
      杉浦 歩 、木下 善仁、松橋 徹郎、志村 優、小貫 孝則、海老原 知博、新田 和広、岡﨑 敦子 、八塚 由紀子、市野 紀子、伏見 拓矢、 尾崎 心、山田 勇磨、 原島 秀吉、大竹 明 、村山 圭、岡﨑 康司
    • Organizer
      日本ミトコンドリア学会年会第20回
    • Related Report
      2021 Annual Research Report
  • [Presentation] 発現解析を基にしたミトコンドリア疾患原因同定2021

    • Author(s)
      長滝谷 芳恵 、新田 和広、大竹 明、村山 圭、岡﨑 康司、木下 善仁
    • Organizer
      第20回日本ミトコンドリア学会年会
    • Related Report
      2021 Annual Research Report
  • [Presentation] マルチオミクス解析から明らかにしたミトコンドリア病の原因2021

    • Author(s)
      木下 善仁、新田 和広、大竹 明、村山 圭、岡﨑 康司
    • Organizer
      第20回日本ミトコンドリア学会年会
    • Related Report
      2021 Annual Research Report
  • [Presentation] ミトコンドリア病の遺伝子解析と治療への展開2021

    • Author(s)
      岡﨑康司
    • Organizer
      日本ミトコンドリア学会年会第20回
    • Related Report
      2021 Annual Research Report
    • Invited
  • [Presentation] ミトコンドリア病のゲノム解析と治療への展開2021

    • Author(s)
      岡﨑康司
    • Organizer
      ゲノム創薬・創発フォーラム 第9回シンポジウム「ミトコンドリアの機能と疾患から創薬を探る」
    • Related Report
      2021 Annual Research Report
    • Invited
  • [Presentation] Genetic diagnosis of mitocohondrial cardiomyopathy and therapeutic approach to mtiochondrial disease2021

    • Author(s)
      岡﨑康司
    • Organizer
      第86回日本循環器学会学術集会
    • Related Report
      2021 Annual Research Report
    • Invited
  • [Presentation] ミトコンドリア病の包括的ゲノム解析からひも解く病態解明2021

    • Author(s)
      岡﨑康司
    • Organizer
      第126回日本解剖学会総会・全国学術集会・第98回日本生理学会大会 合同大会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 新生児ミトコンドリア心筋症を引き起こすATAD3遺伝子重複の解析2021

    • Author(s)
      木下善仁、岡﨑敦子, 新田和広, 大竹明, 村山圭, 岡﨑康司
    • Organizer
      日本ミトコンドリア学会主催J-mit 特別 オンラインシンポジウム
    • Related Report
      2020 Annual Research Report
  • [Presentation] Overcoming The Cheallenges In WGS For Undiagnosed Diseases2020

    • Author(s)
      Okazaki Y
    • Organizer
      12th Annual Next Generation Sequencing & Clinical Diagnostics
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Presentation] De novo duplications in the ATAD3 locus cause neonatal mitochondrial cardiomyopathy2020

    • Author(s)
      Kishita Y, Imai-Okazaki A, Nitta KR, Ohtake A, Murayama K, Okazaki Y
    • Organizer
      日本人類遺伝学会 第65回大会
    • Related Report
      2020 Annual Research Report
  • [Presentation] ミトコンドリア関連ゲノム解析と生化学解析から捉える小児代謝性疾患の病態2019

    • Author(s)
      岡崎 康司, 木下 善仁, 村山 圭, 大竹 明
    • Organizer
      第 92回日本生化学会大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] Delivering Genomic Based Medicine In Japan2019

    • Author(s)
      Yasushi Okazaki
    • Organizer
      11th Annual NGS and Clinical Diagnostics Congress
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 次世代シーケンス技術を用いたミトコンドリア呼吸鎖異常症の病態機構の解明2019

    • Author(s)
      岡崎 康司
    • Organizer
      Mitochondria symposium
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Remarks] 小児ミトコンドリア心筋症の遺伝的基盤と長期予後に関する大規模調査報告

    • URL

      https://www.juntendo.ac.jp/news/20211005-01.html

    • Related Report
      2021 Annual Research Report
  • [Remarks] マルチオミクス解析によりミトコンドリア病未解決症例の原因を特定

    • URL

      https://www.juntendo.ac.jp/news/20210903-02.html

    • Related Report
      2021 Annual Research Report
  • [Remarks] ミトコンドリア病の新たな原因遺伝子を発見

    • URL

      https://www.juntendo.ac.jp/news/20200706-01.html

    • Related Report
      2020 Annual Research Report
  • [Remarks] 新生児ミトコンドリア心筋症の原因遺伝子を国際連携による大規模研究で同定

    • URL

      https://www.juntendo.ac.jp/news/20200710-03.html

    • Related Report
      2020 Annual Research Report

URL: 

Published: 2019-04-18   Modified: 2023-01-30  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi