Kishita Yoshihito 木下善仁

Researcher Number	20634398
Other IDs
Affiliation (Current)	2025: 近畿大学, 理工学部, 講師 2025: 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	2023 – 2025: 近畿大学, 理工学部, 講師 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 Basic Section 52050:Embryonic medicine and pediatrics-related / Complex systems / Pediatrics / Cell biology Except Principal Investigator Medium-sized Section 52:General internal medicine and related fields / Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 48040:Medical biochemistry-related
Keywords	Principal Investigator ミトコンドリア病 / 遺伝性疾患 / ミトコンドリア / バイオインフォマティクス / RNAシーケンス / ゲノム解析 / レトロトランスポゾン / 鉄硫黄クラスター / ヘム / 鉄 … More / 疾患遺伝子 / アクチン / 疾患原因遺伝子 / MAM / 小胞体 … More Except Principal Investigator ミトコンドリア病 / ゲノム解析 / シングルセル / マルチオミックス解析 / ヘテロプラスミー率 / 心筋症 / ミトコンドリアDNA / オミックス解析 / メタボローム解析 / ヘテロプラスミー / シングルセル解析 / 多階層オミックス統合解析 / マルチオミクス / RNAシーケンス / プロテオーム / 全ゲノム解析 / 全エクソーム解析 / 希少疾患 / ゲノム医科学 / 人類遺伝学 / 遺伝性疾患 Less

Establishment of multi-layered omics analysis for mitochondrial disease patients
- Principal Investigator
  
  岡崎康司
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  Juntendo University
Identification of mitochondrial disease-causing genes focusing on retrotransposonsPrincipal Investigator
- Principal Investigator
  
  木下善仁
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Kindai University
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
  
  OkazakiOkazaki Yasushi
- 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
  
  Cell biology
- Research Institution
  Saitama Medical University

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 Other

All Journal Article Presentation

[Journal Article] Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene2024
- Author(s)
  Borna Nurun Nahar、Kishita Yoshihito、Shimura Masaru、Murayama Kei、Ohtake Akira、Okazaki Yasushi
- Journal Title
  
  Mitochondrion
  
  Volume: 76 Pages: 101858-101858
- DOI
  10.1016/j.mito.2024.101858
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23H00424
[Journal Article] Novel ITPA variants identified by whole genome sequencing and RNA sequencing2023
- Author(s)
  Omichi Nanako、Kishita Yoshihito、Nakama Mina、Sasai Hideo、Terazawa Atsushi、Kobayashi Emiko、Fushimi Takuya、Sugiyama Yohei、Ichimoto Keiko、Nitta Kazuhiro R.、Yatsuka Yukiko、Ohtake Akira、Murayama Kei、Okazaki Yasushi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 68 Issue: 9 Pages: 649-652
- DOI
  10.1038/s10038-023-01156-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K15950, KAKENHI-PROJECT-22K07889, KAKENHI-PROJECT-23K07236
[Journal Article] Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report2023
- Author(s)
  Naganuma Tsukasa、Imasawa Toshiyuki、Nukui Ikuo、Wakasugi Masakiyo、Kitamura Hiroshi、Yatsuka Yukiko、Kishita Yoshihito、Okazaki Yasushi、Murayama Kei、Jinguji Yoshimi
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 35 Pages: 100963-100963
- DOI
  10.1016/j.ymgmr.2023.100963
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23H00424
[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] 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
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PUBLICLY-20H05519, KAKENHI-PROJECT-19H03624
[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] 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 Issue: 1 Pages: 3531-3537
- 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 Issue: 1 Pages: 49-73.e10
- DOI
  10.1016/j.medj.2020.06.004
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PUBLICLY-20H05519, KAKENHI-PROJECT-19H03624
[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] 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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PUBLICLY-21H00225, KAKENHI-PROJECT-19H03141, KAKENHI-PROJECT-19H03624
[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
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-20H05519, KAKENHI-PROJECT-19H03624
[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
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19H03624, KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-21K07807, KAKENHI-PROJECT-20H03648
[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] 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
- 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 Issue: 10
- 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.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
- 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 Issue: 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
  
  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] 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 Issue: 3 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 Issue: 1 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 syndrome.2019
- 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) Issue: 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 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
- 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
  
  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] 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 Issue: 6 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 Issue: 2 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 Issue: 4 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 Issue: 5 Pages: 685-693
- DOI
  10.1007/s10545-017-0042-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09973
[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] A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain deficiency.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) Issue: 1 Pages: e1005679-e1005679
- 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] A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy2016
- 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 Issue: 5 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] 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 Issue: 5 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) Issue: 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] Genome and RNA sequencing reveal structural rearrangements in ATAD3 gene cluster2023
- Author(s)
  Kishita Y, Yatsuka Y, Ebihara T, Fushimi T, Sugiyama Y, Imai-Okazaki A, Ohtake A, Murayama K, Okazaki Y.
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K07236
[Presentation] MICOS複合体の異常とミトコンドリア病.2023
- Author(s)
  木下善仁, 杉浦歩,大道納菜子, 八塚由紀子, 中村弘太, 田中藤樹, 村山圭, 大竹明, 岡﨑康司.
- Organizer
  第22回日本ミトコンドリア学会年会
- Data Source
  KAKENHI-PROJECT-23K07236
[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
- Data Source
  KAKENHI-PUBLICLY-20H05519
[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
- Data Source
  KAKENHI-PUBLICLY-20H05519
[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
- Data Source
  KAKENHI-PUBLICLY-20H05519
[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
- Data Source
  KAKENHI-PROJECT-19H03624
[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
- Data Source
  KAKENHI-PROJECT-19H03624
[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
- Data Source
  KAKENHI-PROJECT-19H03624
[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
- Data Source
  KAKENHI-PROJECT-19H03624
[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
- Data Source
  KAKENHI-PUBLICLY-20H05519
[Presentation] マ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
- Data Source
  KAKENHI-PUBLICLY-20H05519
[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
- Data Source
  KAKENHI-PUBLICLY-20H05519
[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
- Data Source
  KAKENHI-PUBLICLY-20H05519
[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
- Data Source
  KAKENHI-PROJECT-19H03624
[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
- Data Source
  KAKENHI-PROJECT-19H03624
[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] 日本人小児ミトコンドリア病の固有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、岡崎敦子、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
- Data Source
  KAKENHI-PUBLICLY-20H05519
[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
- Data Source
  KAKENHI-PROJECT-19H03624
[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
- Data Source
  KAKENHI-PROJECT-19H03624
[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] 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
- 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. OkazakiOkazaki Yasushi (80280733)

# of Collaborated Projects: 2 results

# of Collaborated Products: 18 results
2. 村山圭 (50316741)

# of Collaborated Projects: 2 results

# of Collaborated Products: 15 results
3. 大竹明 (00203810)

# of Collaborated Projects: 2 results

# of Collaborated Products: 14 results
4. 神田将和 (20415417)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
5. Wu Yibo (50811618)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 奥田修二郎 (00512310)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. 松本浩 (00536229)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. OKAZAKI Yasushi

# of Collaborated Projects: 1 results

# of Collaborated Products: 13 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. 今井敦子

# of Collaborated Projects: 0 results

# of Collaborated Products: 4 results
12. 亀井良政

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. 中谷明弘

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
14. 石川香

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
15. 幸田尚

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
18. 松下一之

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
19. 中田和人

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
20. 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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Establishment of multi-layered omics analysis for mitochondrial disease patients

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Identification of mitochondrial disease-causing genes focusing on retrotransposonsPrincipal Investigator

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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] Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene2024

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[Journal Article] Novel ITPA variants identified by whole genome sequencing and RNA sequencing2023

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[Journal Article] Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report2023

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

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[Journal Article] Clinical implementation of RNA sequencing for Mendelian disease diagnostics2022

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

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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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Kishita Yoshihito 木下善仁

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