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八塚由紀子（ヤツカユキコ）

研究テーマ	ミトコンドリア病、他
研究業績（論文）	原著論文 32 令和5年7月 Adult-onset Leigh Syndrome with a m.9176 T>C Mutation Manifested as Reversible Cerebral Vasoconstriction Syndrome. (査読付) Intern Med. 2023 Jul 1;62(13):1995-1998. doi:10.2169/internalmedicine.0773-22. Ayane Ohyama-Tamagake, Kimihiko Kaneko, Ryo Itami, Masatsugu Nakano, Yasuhiro Namioka, Rumiko Izumi, Haruka Sato, Hideaki Suzuki, Atsuhito Takeda, Yasushi Okazaki, ◎Yukiko Yatsuka, Takaaki Abe, Kei Murayama, Naoto Sugeno, Tatsuro Misu, Masashi Aoki 31 令和5年6月 Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report. (査読付) Mol Genet Metab Rep. 2023 Mar 9;35:100963. doi:10.1016/j.ymgmr.2023.100963. Tsukasa Naganuma, Toshiyuki Imasawa, Ikuo Nukui, Masakiyo Wakasugi, Hiroshi Kitamura, ◎Yukiko Yatsuka, Yoshihito Kishita, Yasushi Okazaki, Kei Murayama, Yoshimi Jinguji 30 令和5年6月 Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family. (査読付) Mol Genet Metab Rep. 2023 Mar 17;35:100966. Sayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, Katsumi Arai, Hiroyoshi Koide, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yasushi Okazaki, Kei Murayama, Chikahiko Numakura, Yuko Akioka, Akira Ohtake 29 令和5年5月 Novel ITPA variants identified by whole genome sequencing and RNA sequencing. (査読付) J Hum Genet. 2023 Sep;68(9):649-652. doi:10.1038/s10038-023-01156-y. Nanako Omichi, Yoshihito Kishita, Mina Nakama, Hideo Sasai, Atsushi Terazawa, Emiko Kobayashi, Takuya Fushimi, Yohei Sugiyama, Keiko Ichimoto, Kazuhiro R Nitta, ◎Yukiko Yatsuka, Akira Ohtake, Kei Murayama, Yasushi Okazaki 28 令和5年4月 Strategic validation of variants of uncertain significance in ECHS1 genetic testing. (査読付) J Med Genet. 2023 Apr 13;jmg-2022-109027. doi:10.1136/jmg-2022-109027. 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 27 令和5年3月 Changes in histopathology and heteroplasmy rates over 8 years and effectiveness of taurine supplementation in a patient with mitochondrial nephropathy caused by MT-TL1 mutation: A case report. (査読付) Heliyon. 2023 Mar 30;9(4):e14923. doi:10.1016/j.heliyon.2023.e14923. Toshiyuki Imasawa, Hiroshi Kitamura, Takehiko Kawaguchi, ◎Yukiko Yatsuka, Yasushi Okazaki, Kei Murayama 26 令和4年12月 Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion. (査読付) Mol Genet Metab Rep. 2022 Aug 24;33:100912. doi:10.1016/j.ymgmr.2022.100912. eCollection 2022 Dec. Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama, Sze Chern Lim, ◎Yukiko Yatsuka, Kazuhiro R Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama 25 令和4年11月 Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease. (査読付) J Inherit Metab Dis. 2022 Nov;45(6):1143-1150. doi:10.1002/jimd.12547. Atsuko Imai-Okazaki, Kazuhiro R Nitta, ◎Yukiko Yatsuka, Ayumu Sugiura, Masato Arao, Masaru Shimura, Tomohiro Ebihara, Takanori Onuki, Keiko Ichimoto, Akira Ohtake, Kei Murayama, Yasushi Okazaki 24 令和4年5月 Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis. （査読付） Arch Dis Child Fetal Neonatal Ed. 2022 May;107(3):329-334. doi:10.1136/archdischild-2021-321633. Epub 2021 Oct 7. 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 23 令和4年3月 Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G>A. (査読付) Mitochondrion. 2022 Mar;63:1-8. doi:10.1016/j.mito.2021.12.005. Epub 2021 Dec 18. Masaru Shimura, Takanori Onuki, Yohei Sugiyama, Tetsuro Matsuhashi, Tomohiro Ebihara, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Kazuhiro R Nitta, Atsuko Imai-Okazaki, ◎Yukiko Yatsuka, Yoshihito Kishita, Akira Ohtake, Yasushi Okazaki, Kei Murayama 22 令和3年11月 Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. （査読付） Hum Mutat. 2021 Nov;42(11):1422-1428. doi:10.1002/humu.24274. Epub 2021 Sep 2. Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta KR, ◎Yatsuka Y, Hirose S, Ideguchi H, Ohtake A, Murayama K, Okazaki Y 21 令和3年10月 Valine metabolites analysis in ECHS1 deficiency. （査読付） Mol Genet Metab Rep. 2021 Oct 9;29:100809. doi:10.1016/j.ymgmr.2021.100809 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 20 令和3年10月 Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients. （査読付） Int J Cardiol. 2021 Oct 15;341:48-55. doi:10.1016/j.ijcard.2021.06.042. Epub 2021 Jul 21. Imai-Okazaki A, Matsunaga A, ◎Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Ogawa-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 19 令和3年8月 Trigenic ADH5/ ALDH2/ ADGRV1 mutations in myelodysplasia with Usher syndrome. （査読付） Heliyon. 2021 Aug 14;7(8):e07804. doi:10.1016/j.heliyon.2021.e07804. eCollection 2021 Aug. Kinoshita S, Ando M, Ando J, Ishii M, Furukawa Y, Tomita O, Azusawa Y, Shirane S, Kishita Y, ◎Yatsuka Y, Eguchi H, Okazaki Y, Komatsu N 18 令和3年5月 A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.（査読付） Eur J Med Genet. 2021 May 26:104251. doi:10.1016/j.ejmg.2021.104251. Reports C, Aiba K, Nakamura Y, Sugimoto M, ◎Yatsuka Y, Okazaki Y, Murayama K, Ohtake A, Yokochi K, Saitoh S. 17 令和3年2月 Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.（査読付） Sci Rep. 2021 Feb 11;11(1):3531. doi:10.1038/s41598-021-81015-y. Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, ◎Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. 16 令和2年8月 A novel homozygous variant in MICOS13 / QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome deficiency（査読付） Mol Genet Genomic Med. 2020 Aug 4;e1427. doi:10.1002/mgg3.1427. Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai-Okazaki, ◎Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki 15 令和2年8月 A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency（査読付） Clin Genet. 2020 May 8. doi:10.1111/cge.13773. ◎Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y. 14 令和元年3月 Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome（査読付） Neurogenetics (2019) 20:9–25 Nurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, Sze Chern Lim, Masaru Shimura, Yibo Wu, Kaoru Mogushi, (Yukiko Yatsuka), Hiroko Harashima, Yuichiro Hisatomi, Takuya Fushimi, Keiko Ichimoto, Kei Murayama, Akira Ohtake & Yasushi Okazaki 13 令和元年3月 Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background（査読付） Volume 279, 15 March 2019, Pages 115-121 ◎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 12 平成30年2月 Barth Syndrome: Different Approaches to Diagnosis（査読付） Volume 193, February 2018, Pages 256-260 ◎Atsuko Imai-Okazaki, Yoshihito Kishita, Masakazu Kohda, (Yukiko Yatsuka), Tomoko Hirata, Yosuke Mizuno, Hiroko Harashima, Keiichi Hirono, Fukiko Ichida, Atsuko Noguchi, Masayuki Yoshida, Chiho Tokorodani, Ritsuo Nishiuchi, Atsuhito Takeda, Akihiro Nakaya, Yasushi Sakata, Kei Murayama, Akira Ohtake, Yasushi Okazaki 11 平成28年7月 Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy（査読付） the International Journal of Cardiology.2016 Oct 15(221),pp.446-449 ◎Imai A, Kishita Y, Nakayama Y, Fujita S, Futatani T, Kohda M, (Yatsuka Y), Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y. 10 平成28年1月 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.（査読付） PLoS Genet.2016 Jan 7(12(1)),pp.e1005679 ◎Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, (Yatsuka Y), Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, 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. 9 平成27年8月 Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report（査読付） Brain Dev.2015 Aug(37(7)),pp.719-724 ◎Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, (Yatsuka Y), Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K. 8 平成25年10月 The paired-box homeodomain transcription factor Pax6 binds to the upstream region of the TRAP gene promoter and suppresses receptor activator of NF-kB ligand (RANKL)-induced osteoclast differentiation.（査読付） J Biol Chem. 2013288(43), p.99-312 ◎Masakazu Kogawa, Koji Hisatake, Gerald J. Atkins, David M. Findlay, Yuichiro Enoki, Tsuyoshi Sato, Peter C. Gray, (Yukiko Kanesaki-Yatsuka), Paul H. Anderson, Seiki Wada, Naoki Kato, Aya Fukuda, Shigehiro Katayama, Masafumi Tsujimoto, Tetsuya Yoda, Tatsuo Suda, Yasushi Okazaki, and Masahito Matsumoto. 7 平成25年2月 Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor gamma target gene that regulates adipogenesis through ceramide synthesis.（査読付） J Biol Chem288(7),pp.4522-37 ◎Yamashita-Sugahara Y, Tokuzawa Y, Nakachi Y, (Kanesaki-Yatsuka Y), Matsumoto M, Mizuno Y, Okazaki Y. 6 平成22年7月 Id4, a new candidate gene for senile osteoporosis, acts as a molecular switch promoting osteoblast differentiation.（査読付） PLoS GeneticsJuly 6(7),pp.e1001019 ◎Tokuzawa Y, Yagi K, Yamashita Y, Nakachi Y, Nikaido I, Bono H, Ninomiya Y, (Kanesaki-Yatsuka Y), Akita M, Motegi H, Wakana S, Noda T, Sablitzky F, Arai S, Kurokawa R, Fukuda T, Katagiri T, Schönbach C, Suda T, Mizuno Y, Okazaki Y. 5 平成21年7月 miR-210 promotes osteoblastic differentiation through inhibition of AcvR1b.（査読付） FEBS Letter583(13),pp.2263-8 ◎Mizuno Y, Tokuzawa Y, Ninomiya Y, Yagi K, (Yatsuka-Kanesaki Y), Suda T, Fukuda T, Katagiri T, Kondoh Y, Amemiya T, Tashiro H, Okazaki Y. 4 平成20年4月 miR-125b inhibits osteoblastic differentiation by down-regulation of cell proliferation.（査読付） 2008 Apr 4(368(2)),pp.267-272 ◎Mizuno Y, Yagi K, Tokuzawa Y, (Kanesaki-Yatsuka Y), Suda T, Katagiri T, Fukuda T, Maruyama M, Okuda A, Amemiya T, Kondoh Y, Tashiro H, Okazaki Y. 3 平成20年3月 4-Hydroxydocosahexaenoic acid, a potent peroxisome proliferator-activated receptor gamma agonist alleviates the symptoms of DSS-induced colitis.（査読付） Biochem Biophys Res Commun.2008 Mar 14(367(3)),pp.566-572 ◎Yamamoto K, Ninomiya Y, Iseki M, Nakachi Y, (Kanesaki-Yatsuka Y), Yamanoue Y, Itoh T, Nishii Y, Petrovsky N, Okazaki Y. 2 平成17年4月 Chaperone activities of the 26S and 20S proteasome.（査読付） Curr Protein Pept Sci.2005 Apr(6(2)),pp.197-203 ◎Yano M, (Kanesaki Y), Koumoto Y, Inoue M, Kido H. 1 平成16年7月 20S proteasome prevents aggregation of heat-denatured proteins without PA700 regulatory subcomplex like a molecular chaperone.（査読付） Biomacromolecules. 2004 Jul-Aug(5(4)),pp.1465-1469 ◎Yano M, Koumoto Y, (Kanesaki Y), Wu X, Kido H.

研究テーマ

ミトコンドリア病、他

研究業績（論文）

原著論文

32 令和5年7月 Adult-onset Leigh Syndrome with a m.9176 T>C Mutation Manifested as Reversible Cerebral Vasoconstriction Syndrome. (査読付)
Intern Med. 2023 Jul 1;62(13):1995-1998. doi:10.2169/internalmedicine.0773-22.
Ayane Ohyama-Tamagake, Kimihiko Kaneko, Ryo Itami, Masatsugu Nakano, Yasuhiro Namioka, Rumiko Izumi, Haruka Sato, Hideaki Suzuki, Atsuhito Takeda, Yasushi Okazaki, ◎Yukiko Yatsuka, Takaaki Abe, Kei Murayama, Naoto Sugeno, Tatsuro Misu, Masashi Aoki

31 令和5年6月 Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report. (査読付)
Mol Genet Metab Rep. 2023 Mar 9;35:100963. doi:10.1016/j.ymgmr.2023.100963.
Tsukasa Naganuma, Toshiyuki Imasawa, Ikuo Nukui, Masakiyo Wakasugi, Hiroshi Kitamura, ◎Yukiko Yatsuka, Yoshihito Kishita, Yasushi Okazaki, Kei Murayama, Yoshimi Jinguji

30 令和5年6月 Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family. (査読付)
Mol Genet Metab Rep. 2023 Mar 17;35:100966.
Sayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, Katsumi Arai, Hiroyoshi Koide, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yasushi Okazaki, Kei Murayama, Chikahiko Numakura, Yuko Akioka, Akira Ohtake

29 令和5年5月 Novel ITPA variants identified by whole genome sequencing and RNA sequencing. (査読付)
J Hum Genet. 2023 Sep;68(9):649-652. doi:10.1038/s10038-023-01156-y.
Nanako Omichi, Yoshihito Kishita, Mina Nakama, Hideo Sasai, Atsushi Terazawa, Emiko Kobayashi, Takuya Fushimi, Yohei Sugiyama, Keiko Ichimoto, Kazuhiro R Nitta, ◎Yukiko Yatsuka, Akira Ohtake, Kei Murayama, Yasushi Okazaki

28 令和5年4月 Strategic validation of variants of uncertain significance in ECHS1 genetic testing. (査読付)
J Med Genet. 2023 Apr 13;jmg-2022-109027. doi:10.1136/jmg-2022-109027.
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

27 令和5年3月 Changes in histopathology and heteroplasmy rates over 8 years and effectiveness of taurine supplementation in a patient with mitochondrial nephropathy caused by MT-TL1 mutation: A case report. (査読付)
Heliyon. 2023 Mar 30;9(4):e14923. doi:10.1016/j.heliyon.2023.e14923.
Toshiyuki Imasawa, Hiroshi Kitamura, Takehiko Kawaguchi, ◎Yukiko Yatsuka, Yasushi Okazaki, Kei Murayama

26 令和4年12月 Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion. (査読付)
Mol Genet Metab Rep. 2022 Aug 24;33:100912. doi:10.1016/j.ymgmr.2022.100912. eCollection 2022 Dec.
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama, Sze Chern Lim, ◎Yukiko Yatsuka, Kazuhiro R Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama

25 令和4年11月 Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease. (査読付)
J Inherit Metab Dis. 2022 Nov;45(6):1143-1150. doi:10.1002/jimd.12547.
Atsuko Imai-Okazaki, Kazuhiro R Nitta, ◎Yukiko Yatsuka, Ayumu Sugiura, Masato Arao, Masaru Shimura, Tomohiro Ebihara, Takanori Onuki, Keiko Ichimoto, Akira Ohtake, Kei Murayama, Yasushi Okazaki

24 令和4年5月 Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis. （査読付）
Arch Dis Child Fetal Neonatal Ed. 2022 May;107(3):329-334. doi:10.1136/archdischild-2021-321633. Epub 2021 Oct 7.
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

23 令和4年3月 Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G>A. (査読付)
Mitochondrion. 2022 Mar;63:1-8. doi:10.1016/j.mito.2021.12.005. Epub 2021 Dec 18.
Masaru Shimura, Takanori Onuki, Yohei Sugiyama, Tetsuro Matsuhashi, Tomohiro Ebihara, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Kazuhiro R Nitta, Atsuko Imai-Okazaki, ◎Yukiko Yatsuka, Yoshihito Kishita, Akira Ohtake, Yasushi Okazaki, Kei Murayama

22 令和3年11月 Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. （査読付）
Hum Mutat. 2021 Nov;42(11):1422-1428. doi:10.1002/humu.24274. Epub 2021 Sep 2.
Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta KR, ◎Yatsuka Y, Hirose S, Ideguchi H, Ohtake A, Murayama K, Okazaki Y

21 令和3年10月 Valine metabolites analysis in ECHS1 deficiency. （査読付）
Mol Genet Metab Rep. 2021 Oct 9;29:100809. doi:10.1016/j.ymgmr.2021.100809
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

20 令和3年10月 Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients. （査読付）
Int J Cardiol. 2021 Oct 15;341:48-55. doi:10.1016/j.ijcard.2021.06.042. Epub 2021 Jul 21.
Imai-Okazaki A, Matsunaga A, ◎Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Ogawa-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

19 令和3年8月 Trigenic ADH5/ ALDH2/ ADGRV1 mutations in myelodysplasia with Usher syndrome. （査読付）
Heliyon. 2021 Aug 14;7(8):e07804. doi:10.1016/j.heliyon.2021.e07804. eCollection 2021 Aug.
Kinoshita S, Ando M, Ando J, Ishii M, Furukawa Y, Tomita O, Azusawa Y, Shirane S, Kishita Y, ◎Yatsuka Y, Eguchi H, Okazaki Y, Komatsu N

18 令和3年5月 A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.（査読付）
Eur J Med Genet. 2021 May 26:104251. doi:10.1016/j.ejmg.2021.104251. Reports C, Aiba K, Nakamura Y, Sugimoto M, ◎Yatsuka Y, Okazaki Y, Murayama K, Ohtake A, Yokochi K, Saitoh S.

17 令和3年2月 Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.（査読付）
Sci Rep. 2021 Feb 11;11(1):3531. doi:10.1038/s41598-021-81015-y. Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, ◎Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K.

16 令和2年8月 A novel homozygous variant in MICOS13 / QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome deficiency（査読付）
Mol Genet Genomic Med. 2020 Aug 4;e1427. doi:10.1002/mgg3.1427. Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai-Okazaki, ◎Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki

15 令和2年8月 A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency（査読付） Clin Genet. 2020 May 8. doi:10.1111/cge.13773. ◎Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y.

14 令和元年3月 Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome（査読付） Neurogenetics (2019) 20:9–25 Nurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, Sze Chern Lim, Masaru Shimura, Yibo Wu, Kaoru Mogushi, (Yukiko Yatsuka), Hiroko Harashima, Yuichiro Hisatomi, Takuya Fushimi, Keiko Ichimoto, Kei Murayama, Akira Ohtake & Yasushi Okazaki

13 令和元年3月 Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background（査読付） Volume 279, 15 March 2019, Pages 115-121 ◎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

12 平成30年2月 Barth Syndrome: Different Approaches to Diagnosis（査読付） Volume 193, February 2018, Pages 256-260 ◎Atsuko Imai-Okazaki, Yoshihito Kishita, Masakazu Kohda, (Yukiko Yatsuka), Tomoko Hirata, Yosuke Mizuno, Hiroko Harashima, Keiichi Hirono, Fukiko Ichida, Atsuko Noguchi, Masayuki Yoshida, Chiho Tokorodani, Ritsuo Nishiuchi, Atsuhito Takeda, Akihiro Nakaya, Yasushi Sakata, Kei Murayama, Akira Ohtake, Yasushi Okazaki

11 平成28年7月 Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy（査読付） the International Journal of Cardiology.2016 Oct 15(221),pp.446-449 ◎Imai A, Kishita Y, Nakayama Y, Fujita S, Futatani T, Kohda M, (Yatsuka Y), Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y.

10 平成28年1月 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.（査読付） PLoS Genet.2016 Jan 7(12(1)),pp.e1005679 ◎Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, (Yatsuka Y), Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, 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.

9 平成27年8月 Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report（査読付） Brain Dev.2015 Aug(37(7)),pp.719-724 ◎Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, (Yatsuka Y), Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K.

8 平成25年10月 The paired-box homeodomain transcription factor Pax6 binds to the upstream region of the TRAP gene promoter and suppresses receptor activator of NF-kB ligand (RANKL)-induced osteoclast differentiation.（査読付） J Biol Chem. 2013288(43), p.99-312 ◎Masakazu Kogawa, Koji Hisatake, Gerald J. Atkins, David M. Findlay, Yuichiro Enoki, Tsuyoshi Sato, Peter C. Gray, (Yukiko Kanesaki-Yatsuka), Paul H. Anderson, Seiki Wada, Naoki Kato, Aya Fukuda, Shigehiro Katayama, Masafumi Tsujimoto, Tetsuya Yoda, Tatsuo Suda, Yasushi Okazaki, and Masahito Matsumoto.

7 平成25年2月 Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor gamma target gene that regulates adipogenesis through ceramide synthesis.（査読付） J Biol Chem288(7),pp.4522-37 ◎Yamashita-Sugahara Y, Tokuzawa Y, Nakachi Y, (Kanesaki-Yatsuka Y), Matsumoto M, Mizuno Y, Okazaki Y.

6 平成22年7月 Id4, a new candidate gene for senile osteoporosis, acts as a molecular switch promoting osteoblast differentiation.（査読付） PLoS GeneticsJuly 6(7),pp.e1001019 ◎Tokuzawa Y, Yagi K, Yamashita Y, Nakachi Y, Nikaido I, Bono H, Ninomiya Y, (Kanesaki-Yatsuka Y), Akita M, Motegi H, Wakana S, Noda T, Sablitzky F, Arai S, Kurokawa R, Fukuda T, Katagiri T, Schönbach C, Suda T, Mizuno Y, Okazaki Y.

5 平成21年7月 miR-210 promotes osteoblastic differentiation through inhibition of AcvR1b.（査読付） FEBS Letter583(13),pp.2263-8 ◎Mizuno Y, Tokuzawa Y, Ninomiya Y, Yagi K, (Yatsuka-Kanesaki Y), Suda T, Fukuda T, Katagiri T, Kondoh Y, Amemiya T, Tashiro H, Okazaki Y.

4 平成20年4月 miR-125b inhibits osteoblastic differentiation by down-regulation of cell proliferation.（査読付） 2008 Apr 4(368(2)),pp.267-272 ◎Mizuno Y, Yagi K, Tokuzawa Y, (Kanesaki-Yatsuka Y), Suda T, Katagiri T, Fukuda T, Maruyama M, Okuda A, Amemiya T, Kondoh Y, Tashiro H, Okazaki Y.

3 平成20年3月 4-Hydroxydocosahexaenoic acid, a potent peroxisome proliferator-activated receptor gamma agonist alleviates the symptoms of DSS-induced colitis.（査読付） Biochem Biophys Res Commun.2008 Mar 14(367(3)),pp.566-572 ◎Yamamoto K, Ninomiya Y, Iseki M, Nakachi Y, (Kanesaki-Yatsuka Y), Yamanoue Y, Itoh T, Nishii Y, Petrovsky N, Okazaki Y.

2 平成17年4月 Chaperone activities of the 26S and 20S proteasome.（査読付） Curr Protein Pept Sci.2005 Apr(6(2)),pp.197-203 ◎Yano M, (Kanesaki Y), Koumoto Y, Inoue M, Kido H.

1 平成16年7月 20S proteasome prevents aggregation of heat-denatured proteins without PA700 regulatory subcomplex like a molecular chaperone.（査読付） Biomacromolecules. 2004 Jul-Aug(5(4)),pp.1465-1469 ◎Yano M, Koumoto Y, (Kanesaki Y), Wu X, Kido H.

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八塚 由紀子（ヤツカ ユキコ）

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