Yasushi Okazaki

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 26

Top Venues

Nature metabolism

Biomedical materials (Bristol, England)

Scientific reports

Journal of human genetics

Juntendo University

Osaka University (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Juntendo University May 01 2017

Japan

Professor, Director :: Intractable Disease Research Center

RIKEN IMS Nov 01 2016

Japan

Team Leader :: Comparative Genomic Analysis

Saitama Medical University Apr 01 2003 - May 01 2017

Japan

Professor, Director :: Research Center for Genomic Medicine

RIKEN Apr 01 1995 - Mar 31 2003

Japan

Team Leader :: Genomic Sciences Center

Osaka Police Hospital May 01 1986 - Mar 31 1991

Japan

Clinician :: Cardiovascular Center

Education History

Osaka University Apr 01 1991 - Mar 31 1995

Japan

PHD :: Graduate School of Medicine

Publications

Hideo Saotome, Yukiko Yatsuka, Osamu Minowa, Kei Shinotsuka, Katsuharu Tsuchida, Hitomi Hirose, Kotaro Dai, Hisako Tokuno, Tomohiro Hayakawa, Hidenori Hiranuma, Akari Hasegawa, Ichiro Nakatomi, Atsuko Okazaki, Yasushi Okazaki
Microstripe pattern substrate consisting of alternating planar and nanoprotrusive regions improved hiPSC-derived cardiomyocytes' unidirectional alignment and functional properties. Biomedical materials (Bristol, England) 19 (4) (2024)
Hideo Saotome, Yukiko Yatsuka, Osamu Minowa, Kei Shinotsuka, Katsuharu Tsuchida, Hitomi Hirose, Kotaro Dai, Hisako Tokuno, Tomohiro Hayakawa, Hidenori Hiranuma, Akari Hasegawa, Ichiro Nakatomi, Atsuko Okazaki, Yasushi Okazaki
Microstripe pattern substrate consisting of alternating planar and nanoprotrusive regions improved hiPSC-derived cardiomyocytes' unidirectional alignment and functional properties. Biomedical materials (Bristol, England) 19 (4) (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Hideo Saotome, Yukiko Yatsuka, Osamu Minowa, Kei Shinotsuka, Katsuharu Tsuchida, Hitomi Hirose, Kotaro Dai, Hisako Tokuno, Tomohiro Hayakawa, Hidenori Hiranuma, Akari Hasegawa, Ichiro Nakatomi, Atsuko Okazaki, Yasushi Okazaki
Microstripe pattern substrate consisting of alternating planar and nanoprotrusive regions improved hiPSC-derived cardiomyocytes' unidirectional alignment and functional properties. Biomedical materials (Bristol, England) (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Rina Tajima, Atsuko Okazaki, Tsuyoshi Sato, Kokoro Ozaki, Daisuke Motooka, Yasushi Okazaki, Tetsuya Yoda
Genetic Landscape of Masticatory Muscle Tendon-Aponeurosis Hyperplasia. Genes 14 (9) (2023)
Tomoki Kimura, Haruna Kawano, Satoru Muto, Nobuhito Muramoto, Toshiaki Takano, Yan Lu, Hidetaka Eguchi, Hiroo Wada, Yasushi Okazaki, Hisamitsu Ide, Shigeo Horie
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease. Biomolecules 13 (7) (2023)
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
Novel ITPA variants identified by whole genome sequencing and RNA sequencing. Journal of human genetics (2023)
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
Strategic validation of variants of uncertain significance in ECHS1 genetic testing. Journal of medical genetics (2023)
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
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease. Journal of inherited metabolic disease 45 (6) (2022)
Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka
A Japanese patient with neonatal biotin-responsive basal ganglia disease. Human genome variation 9 (1) (2022)
Philip Harrer, Audrey Schalk, Masaru Shimura, Sarah Baer, Nadège Calmels, Marie Aude Spitz, Marie-Thérèse Abi Warde, Elise Schaefer, Volker M Sc Kittke, Yasemin Dincer, Matias Wagner, Ivana Dzinovic, Riccardo Berutti, Tatsuharu Sato, Toshihiko Shirakawa, Yasushi Okazaki, Kei Murayama, Konrad Oexle, Holger Prokisch, Volker Mall, Ivo Melčák, Juliane Winkelmann, Michael Zech
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions. Annals of neurology (2022)
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Tetsuro Matsuhashi, Keiko Ichimoto, Ayako Matsunaga, Nana Akiyama, Minako Ogawa-Tominaga, Yukiko Yatsuka, Kazuhiro R Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Imai-Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis. Archives of disease in childhood. Fetal and neonatal edition (2021)
Soichiro Natsume, Tatsuro Yamaguchi, Hidetaka Eguchi, Yasushi Okazaki, Shin-Ichiro Horiguchi, Hideyuki Ishida
Germline deletion of chromosome 2p16-21 associated with Lynch syndrome. Human genome variation 8 (1) (2021)
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Takuya Fushimi, Kazuhiro R Nitta, Yukiko Yatsuka, Shinichi Hirose, Hiroshi Ideguchi, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. Human mutation 42 (11) (2021)
Yukiko Yatsuka, Yoshihito Kishita, Luke E Formosa, Masaru Shimura, Fumihito Nozaki, Tatsuya Fujii, Kazuhiro R Nitta, Akira Ohtake, Kei Murayama, Michael T Ryan, Yasushi Okazaki
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Clinical genetics 98 (2) (2020)
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai-Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. Molecular genetics & genomic medicine 8 (10) (2020)
Yuichiro Hisatomi, Kei Murayama, Akira Ohtake, Yasushi Okazaki
Reply to the "Letter to the Editor" from Dr. J Finsterer and colleagues. Neurogenetics 20 (1) (2019)
Toshiki Takenouchi, Fan-Yan Wei, Hisato Suzuki, Tomoko Uehara, Takao Takahashi, Yasushi Okazaki, Kenjiro Kosaki, Kazuhito Tomizawa
Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples. American journal of medical genetics. Part A 179 (8) (2019)
Nagahiro Ochiai, Yutaka Nakachi, Tomotaka Yokoo, Takahiro Ichihara, Tore Eriksson, Yuki Yonemoto, Takehiko Kato, Hitoshi Ogata, Natsuko Fujimoto, Yasuhiro Kobayashi, Nobuyuki Udagawa, Shinsuke Kaku, Tomokazu Ueki, Yasushi Okazaki, Naoyuki Takahashi, Tatsuo Suda
Murine osteoclasts secrete serine protease HtrA1 capable of degrading osteoprotegerin in the bone microenvironment. Communications biology 2 (2019)
Yue Yao, Motoi Nishimura, Kei Murayama, Naomi Kuranobu, Satomi Tojo, Minako Beppu, Takayuki Ishige, Sakae Itoga, Sachio Tsuchida, Masato Mori, Masaki Takayanagi, Masataka Yokoyama, Kazuyuki Yamagata, Yoshihito Kishita, Yasushi Okazaki, Fumio Nomura, Kazuyuki Matsushita, Tomoaki Tanaka
A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing. Scientific reports 9 (1) (2019)
Masaru Shimura, Naoko Nozawa, Minako Ogawa-Tominaga, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Takuya Ishii, Kiwamu Takahashi, Tohru Tanaka, Motowo Nakajima, Yasushi Okazaki, Akira Ohtake, Kei Murayama
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases. Scientific reports 9 (1) (2019)
Kei Murayama, Masaru Shimura, Zhimei Liu, Yasushi Okazaki, Akira Ohtake
Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases. Journal of human genetics 64 (2) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Yasushi Okazaki