Kishita Yoshihito 木下善仁

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

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

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# of Collaborated Products: 1 results
9. MOGUSHI Kaoru

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# of Collaborated Products: 1 results
10. NISHIMURA Motoi

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# of Collaborated Products: 1 results
11. TSUCHIDA Sachio

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# of Collaborated Products: 1 results
12. 内海健

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# of Collaborated Products: 1 results
13. 八木美佳子

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# 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

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# 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

Kishita Yoshihito 木下 善仁

Research Projects

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The relationship between iron homeostasis and pathogenesisPrincipal Investigator

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Comprehensive analysis of of aberrant gene expression in mitochondrial disorders

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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

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Elucidation of the molecular pathogenesis of mitochondrial diseasePrincipal Investigator

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Analysis of the relationship between the loss of ER-mitochondria interaction and mitochondrial diseasesPrincipal Investigator

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

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[Journal Article] Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus2021

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[Journal Article] A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency2020

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[Journal Article] A novel homozygous variant in MICOS13 / QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome2020

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[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

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[Journal Article] Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL2020

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[Journal Article] Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis2020

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[Journal Article] Cardiomyopathy in children with mitochondrial disease: prognosis and genetic background2019

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[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

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[Journal Article] Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases2019

Kishita Yoshihito 木下善仁