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Kishita Yoshihito  木下 善仁

ORCIDConnect your ORCID iD *help
Researcher Number 20634398
Other IDs
Affiliation (Current) 2022: 近畿大学, 理工学部, 講師
2022: 順天堂大学, 大学院医学研究科, 非常勤講師
Affiliation (based on the past Project Information) *help 2020 – 2021: 近畿大学, 理工学部, 講師
2018 – 2019: 順天堂大学, 医学(系)研究科(研究院), 助教
2017: 埼玉医科大学, 医学部, 非常勤講師
2016: 埼玉医科大学, 医学部, 助教
2014 – 2015: 埼玉医科大学, 医学部, 研究員
Review Section/Research Field
Principal Investigator
Pediatrics / Cell biology / Complex systems
Except Principal Investigator
Basic Section 48040:Medical biochemistry-related / Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords
Principal Investigator
ミトコンドリア / ミトコンドリア病 / 遺伝性疾患 / 小胞体 / MAM / 疾患原因遺伝子 / アクチン / 疾患遺伝子 / 鉄 / ヘム / 鉄硫黄クラスター … More
Except Principal Investigator
… More 遺伝性疾患 / ゲノム解析 / 人類遺伝学 / ゲノム医科学 / 希少疾患 / 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 Less
  • Research Projects

    (5 results)
  • Research Products

    (40 results)
  • Co-Researchers

    (34 People)
  •  The relationship between iron homeostasis and pathogenesisPrincipal Investigator

    • Principal Investigator
      木下 善仁
    • Project Period (FY)
      2020 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
    • Review Section
      Complex systems
    • Research Institution
      Kindai University
  •  Comprehensive analysis of of aberrant gene expression in mitochondrial disorders

    • Principal Investigator
      岡崎 康司
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Juntendo University
  •  高難度ゲノム領域での構造異常に着目したゲノム解析手法の開発と遺伝性疾患の解明

    • Principal Investigator
      神田 将和
    • Project Period (FY)
      2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 48040:Medical biochemistry-related
    • Research Institution
      Juntendo University
  •  Elucidation of the molecular pathogenesis of mitochondrial diseasePrincipal Investigator

    • Principal Investigator
      Kishita Yoshihito
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Juntendo University
      Saitama Medical University
  •  Analysis of the relationship between the loss of ER-mitochondria interaction and mitochondrial diseasesPrincipal Investigator

    • Principal Investigator
      Kishita Yoshihito
    • Project Period (FY)
      2014 – 2015
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
      Cell biology
    • Research Institution
      Saitama Medical University

All 2021 2020 2019 2018 2017 2016 2015 Other

All Journal Article Presentation

  • [Journal Article] Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan2021

    • Author(s)
      Akiyama Nana、Shimura Masaru、Yamazaki Taro、Harashima Hiroko、Fushimi Takuya、Tsuruoka Tomoko、Ebihara Tomohiro、Ichimoto Keiko、Matsunaga Ayako、Saito-Tsuruoka Megumi、Yatsuka Yukiko、Kishita Yoshihito、Kohda Masakazu、Namba Akira、Kamei Yoshimasa、Okazaki Yasushi、Kosugi Shinji、Ohtake Akira、Murayama Kei
    • Journal Title

      Scientific Reports

      Volume: 11 Pages: 3531-3531

    • DOI

      10.1038/s41598-021-81015-y

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08305, KAKENHI-PUBLICLY-20H05519, KAKENHI-PROJECT-18K07411
  • [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

    • DOI

      10.1016/j.medj.2020.06.004

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PUBLICLY-20H05519, KAKENHI-PROJECT-19H03624
  • [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 Pages: 155-165

    • DOI

      10.1111/cge.13773

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03624
  • [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

    • DOI

      10.1002/mgg3.1427

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19H03624
  • [Journal Article] Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185T>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 Pages: 69-72

    • DOI

      10.1016/j.braindev.2019.08.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19H03624, KAKENHI-PROJECT-18K15724
  • [Journal Article] Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL2020

    • Author(s)
      Borna Nurun Nahar、Kishita Yoshihito、Sakai Norio、Hamada Yusuke、Kamagata Koji、Kohda Masakazu、Ohtake Akira、Murayama Kei、Okazaki Yasushi
    • Journal Title

      Genes

      Volume: 11 Pages: 1325-1325

    • DOI

      10.3390/genes11111325

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PUBLICLY-20H05519, KAKENHI-PROJECT-19K23954
  • [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

      Journal of Inherited Metabolic Disease

      Volume: - 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 background2019

    • 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] Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report2019

    • Author(s)
      Hirono Keiichi、Ichida Fukiko、Nishio Natsuhito、Ogawa-Tominaga Minako、Fushimi Takuya、Feichtinger Rene′ G.、Mayr Johannes A.、Kohda Masakazu、Kishita Yoshihito、Okazaki Yasushi、Ohtake Akira、Murayama Kei
    • Journal Title

      Clinical Case Reports

      Volume: 7 Pages: 553-557

    • DOI

      10.1002/ccr3.2050

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09973, KAKENHI-PROJECT-18K07785
  • [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 Pages: 10549-10549

    • DOI

      10.1038/s41598-019-46772-x

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19H03624
  • [Journal Article] Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome2019

    • Author(s)
      Borna NN, Kishita Y, Kohda M, Lim SC, Shimura M, Wu Y, Mogushi K, Yatsuka Y, Harashima H, Hisatomi Y, Fushimi T, Ichimoto K, Murayama K, Ohtake A, Okazaki Y.
    • Journal Title

      neurogenetics

      Volume: 20(1) Pages: 9-25

    • DOI

      10.1007/s10048-018-0561-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K10552, KAKENHI-PROJECT-18K08798, KAKENHI-PROJECT-17F17714, KAKENHI-PROJECT-16K09973
  • [Journal Article] A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing.2019

    • 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

      Sci Rep.

      Volume: 9 Pages: 17411-17411

    • DOI

      10.1038/s41598-019-53449-y

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19KT0019, KAKENHI-PROJECT-17K09004, KAKENHI-PROJECT-18K07408, KAKENHI-PROJECT-18K09593, KAKENHI-PROJECT-19H03624, KAKENHI-PROJECT-19H03708, KAKENHI-PROJECT-17KT0124, KAKENHI-PROJECT-16K19206
  • [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

      J Pediatr

      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] Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation2018

    • Author(s)
      Miyauchi Akihiko、Osaka Hitoshi、Nagashima Masako、Kuwajima Mari、Monden Yukifumi、Kohda Masakazu、Kishita Yoshihito、Okazaki Yasushi、Murayama Kei、Ohtake Akira、Yamagata Takanori
    • Journal Title

      Brain and Development

      Volume: 40 Pages: 498-502

    • DOI

      10.1016/j.braindev.2018.02.007

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K09973
  • [Journal Article] Mutations in TOP3A Cause a Bloom Syndrome-like Disorder2018

    • Author(s)
      Martin CA, Sarlos K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmuller J, Aza-Carmona M, Barakat BAY, Barraza-Garcia J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y et al
    • Journal Title

      The American Journal of Human Genetics

      Volume: 103 Pages: 221-231

    • DOI

      10.1016/j.ajhg.2018.07.001

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09973
  • [Journal Article] Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies2017

    • Author(s)
      Feichtinger RG, Olahova M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H et al
    • Journal Title

      The American Journal of Human Genetics

      Volume: 101 Pages: 525-538

    • DOI

      10.1016/j.ajhg.2017.08.015

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09973, KAKENHI-PROJECT-17H01550, KAKENHI-PROJECT-15H04764
  • [Journal Article] Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients2017

    • Author(s)
      Ogawa Erika、Shimura Masaru、Fushimi Takuya、Tajika Makiko、Ichimoto Keiko、Matsunaga Ayako、Tsuruoka Tomoko、Ishige Mika、Fuchigami Tatsuo、Yamazaki Taro、Mori Masato、Kohda Masakazu、Kishita Yoshihito、Okazaki Yasushi、Takahashi Shori、Ohtake Akira、Murayama Kei
    • Journal Title

      Journal of Inherited Metabolic Disease

      Volume: 40 Pages: 685-693

    • DOI

      10.1007/s10545-017-0042-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K09973
  • [Journal Article] A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.2017

    • Author(s)
      Borna NN, Kishita Y, Ishikawa K, Nakada K, Hayashi JI, Tokuzawa Y, Kohda M, Nyuzuki H, Yamashita-Sugahara Y, Nasu T, Takeda A, Murayama K, Ohtake A, Okazaki Y
    • Journal Title

      J. Hum. Genet.

      Volume: 62 Pages: 539-547

    • DOI

      10.1038/jhg.2016.165

    • NAID

      40021210340

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H04678, KAKENHI-PROJECT-16K14719, KAKENHI-PROJECT-16K09973, KAKENHI-PROJECT-16K18535, KAKENHI-PROJECT-16H02463, KAKENHI-PROJECT-15K09679
  • [Journal Article] Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy.2016

    • 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] A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.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)

    • 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] DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.2016

    • Author(s)
      Zaha K, Matsumoto H, Itoh M, Saitsu H, Kato K, Kato M, Ogata S, Murayama K, Kishita Y, Mizuno Y, Kohda M, Nishino I, Ohtake A, Okazaki Y, Matsumoto N, Nonoyama S.
    • Journal Title

      Clinical Genetics

      Volume: 90 Pages: 472-474

    • DOI

      10.1111/cge.12805

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16K09973
  • [Journal Article] Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.2015

    • Author(s)
      Kishita Y, Pajak A, Bolar NA, Marobbio CM, et al
    • Journal Title

      Am J Hum Genet.

      Volume: 97(5) Pages: 761-8

    • DOI

      10.1016/j.ajhg.2015.09.013

    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26870545
  • [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
    • Data Source
      KAKENHI-PUBLICLY-20H05519
  • [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
    • Data Source
      KAKENHI-PROJECT-19H03624
  • [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
    • Data Source
      KAKENHI-PUBLICLY-20H05519
  • [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
    • Data Source
      KAKENHI-PROJECT-19H03624
  • [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
    • Data Source
      KAKENHI-PROJECT-19H03624
  • [Presentation] Identification of novel disease-causing genes associated with mitochondrial dynamics in mitochondrial disorders2018

    • Author(s)
      Kishita Y, Kohda M, Mizuno Y, Yatsuka Y, Hirata T, Harashima H, Shimura M, Murayama K, Ohtake A, Okazaki Y
    • Organizer
      1st International Mitochondria Meeting for Young Scientists
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09973
  • [Presentation] Association between mutations in genes encoding non-mitochondrial proteins and pathogenesis of mitochondrial diseases2018

    • Author(s)
      Kishita Y,Kohda M,Fushimi T, Yatsuka Y, Lim SC,Borna NN, Hirata T, Imai-Okazaki A,Matsunaga A, Shimura M, Tajika M, Kuranobu N, Ichimoto K, Harashima H,Murayama K,Ohtake A, Okazaki Y
    • Organizer
      AussieMit2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09973
  • [Presentation] ミトコンドリア病疑いの症例を対象としたゲノム情報解析2018

    • Author(s)
      神田 将和、伏見 拓矢、木下 善仁、村山 圭、大竹 明、岡崎 康司
    • Organizer
      第25回日本遺伝子診療学会
    • Data Source
      KAKENHI-PROJECT-18K06922
  • [Presentation] Homozygous mutation in MIC13 impairs cristae structure and causes mitochondrial DNA depletion syndrome2018

    • Author(s)
      Kishita Y, Kohda M, Akita M, Mizuno Y, Yatsuka Y, Hirata T, Harashima H, Shimura M, Murayama K, Ohtake A, Okazaki Y
    • Organizer
      Keystone symposia -Mitochondrial biology (Z1)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09973
  • [Presentation] Identification of mutations in non-mitochondrial disease genes in mitochondrial diseases2017

    • Author(s)
      Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Imai-Okazaki A, Harashima H, Murayama K, Ohtake A, Okazaki Y
    • Organizer
      第15回RCGMフロンティアシンポジウム
    • Data Source
      KAKENHI-PROJECT-16K09973
  • [Presentation] ミトコンドリア病における他の疾患を引き起こす遺伝子変異の発見2017

    • Author(s)
      木下 善仁,神田 将和,八塚由紀子,平田 智子,水野 洋介,今井-岡﨑 敦子,原嶋 宏子,村山  圭,大竹  明,岡﨑 康司
    • Organizer
      第59回日本先天代謝異常学会総会/第15回 アジア先天代謝異常症シンポジウム
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09973
  • [Presentation] Genetic background of Japanese patients with mitochondrial disorders2017

    • Author(s)
      Kishita Y, Kohda M, Mizuno Y, Imai A, Nakaya A, Hirata T, Yatsuka Y, Borna NN, Harashima H, Murayama K, Ohtake A, Okazaki Y
    • Organizer
      EUROMIT2017
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09973
  • [Presentation] Comprehensive genomic analysis identified mutations in nuclear-encoded mitochondria-related gene impairing mitochondrial fission and fusion balance2016

    • Author(s)
      Kishita Y, Suzuki S, Tokuzawa Y, Nyuzuki H, Kohda M, Murayama K, Ohtake A, Okazaki Y
    • Organizer
      Keystone Symposia -Mitochondrial Dynamics (D2)
    • Place of Presentation
      Sheraton Steamboat Resort (Steamboat Springs, Colorado,USA)
    • Year and Date
      2016-04-03
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09973
  • [Presentation] Mitochondrial DNA depletion syndrome caused by homozygous mutation in MIC132016

    • Author(s)
      Kishita Y, Kohda M, Akita M, Mizuno Y, Yatsuka Y, Hirata T, Harashima H, Yamazaki T, Shimura M, Murayama K, Ohtake A, Okazaki Y
    • Organizer
      The 13th Conference of Asian Society for Mitochondrial Research and Medicine [ASMRM]
    • Place of Presentation
      TKPガーデンシティ品川(東京都港区)
    • Year and Date
      2016-10-30
    • Data Source
      KAKENHI-PROJECT-16K09973
  • [Presentation] Mitochondrial DNA depletion syndrome caused by homozygous mutation in MIC132016

    • Author(s)
      Kishita Y, Kohda M, Akita M, Mizuno Y, Yatsuka Y, Hirata T, Harashima H, Yamazaki T, Shimura M, Murayama K, Ohtake A, Okazaki Y
    • Organizer
      第14回RCGMフロンティア国際シンポジウム
    • Place of Presentation
      埼玉医科大学創立30周年記念講堂(埼玉県日高市)
    • Year and Date
      2016-11-11
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09973
  • [Presentation] ミトコンドリアの分裂・融合の異常とミトコンドリア細胞症を引き起こす新規ミトコンドリア関連遺伝子の変異の同定と解析2015

    • Author(s)
      木下善仁, 鈴木聡美, 徳澤佳美, 入月浩美, 神田将和, 村山圭, 大竹明 , 岡崎康司
    • Organizer
      第13回RCGMフロンティアシンポジウム
    • Place of Presentation
      埼玉医科大学創立30周年記念講堂(埼玉県日高市)
    • Year and Date
      2015-10-30
    • Data Source
      KAKENHI-PROJECT-26870545
  • [Presentation] Mutations in a novel mitochondria-related gene impaired mitochondrial fission/fusion balance and caused mitochondrial cytopathy2015

    • Author(s)
      木下善仁, 鈴木聡美, 徳澤佳美, 入月浩美, 神田将和, 村山圭, 大竹明 , 岡崎康司
    • Organizer
      第15回年会日本ミトコンドリア学会
    • Place of Presentation
      福井県国際交流会館(福井県福井市)
    • Year and Date
      2015-11-19
    • Data Source
      KAKENHI-PROJECT-26870545
  • [Presentation] ミトコンドリア呼吸鎖異常症の原因遺伝子の包括的大規模解析

    • Author(s)
      木下善仁,徳澤佳美, 神田将和,森山陽介, 水野洋介,菅原-山下泉, 田丸俊輔 栃木秀乃,上原奈津美, 仲地豊,八塚由紀子,入月浩美,鈴木聡美,Nurun Nahar Borna, 平田智子, 的場奈々,加藤英政, 奥田晶彦, 森雅人, 安嶋まさみ, 原嶋宏子, 山崎太郎, 村山圭,大竹明, 岡﨑康司
    • Organizer
      第37回日本分子生物学会年会
    • 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-26870545
  • 1.  神田 将和 (20415417)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 2.  岡崎 康司 (80280733)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 11 results
  • 3.  Wu Yibo (50811618)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 4.  OKAZAKI Yasushi
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 19 results
  • 5.  OHTAKE Akira
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 19 results
  • 6.  MURAYAMA Kei
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 19 results
  • 7.  HIRONO Keiichi
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 8.  MORIYAMA Yohsuke
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 9.  MOGUSHI Kaoru
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 10.  NISHIMURA Motoi
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 11.  TSUCHIDA Sachio
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 12.  内海 健
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 13.  八木 美佳子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 14.  今井 敦子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 4 results
  • 15.  中谷 明弘
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 16.  武田 充人
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 17.  亀井 良政
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 18.  小杉 眞司
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 19.  市田 蕗子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 20.  幸田 尚
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 21.  奥田 晶彦
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 22.  八塚 由紀子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 23.  戸澤 雄紀
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 24.  ヌルン・ナハール ボルナ
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 25.  LIM SZE CHERN
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 26.  松下 一之
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 27.  田中 知明
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 28.  別府 美奈子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 29.  野村 文夫
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 30.  山形 一行
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 31.  中田 和人
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 32.  石川 香
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 33.  林 純一
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 34.  才津 浩智
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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