Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Tomoko Hirata"'
Autor:
Kokoro Ozaki, Yukiko Yatsuka, Yoshinobu Oyazato, Atsushi Nishiyama, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Masaru Shimura, Shohei Noma, Yohei Sugiyama, Michihira Tagami, Moe Fukunaga, Hiroko Kinoshita, Tomoko Hirata, Wataru Suda, Yasuhiro Murakawa, Piero Carninci, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Abstract Repeat expansions cause at least 50 hereditary disorders, including Friedreich ataxia and other diseases known to cause mitochondrial dysfunction. We identified a patient with NAXE-related mitochondrial encephalopathy and novel biallelic GGG
Externí odkaz:
https://doaj.org/article/4c622688009f4260844f138e0fda2dc8
Autor:
Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Hiromi Nyuzuki, Yohsuke Moriyama, Yosuke Mizuno, Tomoko Hirata, Yukiko Yatsuka, Yzumi Yamashita-Sugahara, Yutaka Nakachi, Hidemasa Kato, Akihiko Okuda, Shunsuke Tamaru, Nurun Nahar Borna, Kengo Banshoya, Toshiro Aigaki, Yukiko Sato-Miyata, Kohei Ohnuma, Tsutomu Suzuki, Asuteka Nagao, Hazuki Maehata, Fumihiko Matsuda, Koichiro Higasa, Masao Nagasaki, Jun Yasuda, Masayuki Yamamoto, Takuya Fushimi, Masaru Shimura, Keiko Kaiho-Ichimoto, Hiroko Harashima, Taro Yamazaki, Masato Mori, Kei Murayama, Akira Ohtake, Yasushi Okazaki
Publikováno v:
PLoS Genetics, Vol 12, Iss 1, p e1005679 (2016)
Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutat
Externí odkaz:
https://doaj.org/article/158105bef6724bed92af4dd632668bf3
Autor:
Takuya Fushimi, Atsuhito Takeda, Shuko Nojiri, Hiroko Harashima, Kazuhiro R. Nitta, Masakazu Kohda, Ayako Matsunaga, Yasushi Okazaki, Yasushi Sakata, Akira Ohtake, Minako Ogawa-Tominaga, Makiko Tajika, Tetsuro Matsuhashi, Akihiro Nakaya, Tomoko Hirata, Yohei Sugiyama, Ayumu Sugiura, Kei Murayama, Tomohiro Ebihara, Keiko Ichimoto, Atsuko Imai-Okazaki, Masaru Shimura, Yoshihito Kishita, Yukiko Yatsuka, Tomoko Tsuruoka, Shigetoyo Kogaki
Publikováno v:
International Journal of Cardiology. 341:48-55
BACKGROUND Cardiomyopathy is a risk factor for poor prognosis in pediatric patients with mitochondrial disease. However, other risk factors including genetic factors related to poor prognosis in mitochondrial disease has yet to be fully elucidated. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02329003d97299262a55193c38a5e59e
https://doi.org/10.1016/j.ijcard.2021.06.042
https://doi.org/10.1016/j.ijcard.2021.06.042
Autor:
Ayako Matsunaga, Kei Murayama, Shigetoyo Kogaki, Yasushi Sakata, Akira Ohtake, Yosuke Mizuno, Atsuhito Takeda, Yasushi Okazaki, Yoshihito Kishita, Hiroko Harashima, Takuya Fushimi, Atsuko Imai-Okazaki, Masakazu Kohda, Tomoko Hirata, Yukiko Yatsuka, Akihiro Nakaya
Publikováno v:
International Journal of Cardiology. 279:115-121
Cardiomyopathy is a reported indicator of poor prognosis in children with mitochondrial disease. However, the association between prognosis and the genetic background of cardiomyopathy in children with mitochondrial disease has yet to be fully elucid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9861186a6176cd24229d4e84bbdc8a0
https://doi.org/10.1016/j.ijcard.2019.01.017
https://doi.org/10.1016/j.ijcard.2019.01.017
Autor:
Fukiko Ichida, Atsuko Noguchi, Yasushi Sakata, Atsuhito Takeda, Akira Ohtake, Hiroko Harashima, Yasushi Okazaki, Keiichi Hirono, Yukiko Yatsuka, Masakazu Kohda, Kei Murayama, Chiho Tokorodani, Yosuke Mizuno, Akihiro Nakaya, Atsuko Imai-Okazaki, Ritsuo Nishiuchi, Yoshihito Kishita, Tomoko Hirata, Masayuki Yoshida
Publikováno v:
The Journal of Pediatrics. 193:256-260
The diagnosis of Barth syndrome is challenging owing to the wide phenotypic spectrum with allelic heterogeneity. Here we report 3 cases of Barth syndrome with phenotypic and allelic heterogeneity that were diagnosed by different approaches, including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aeef6245ca6ffa9514b02f32926eb14
https://doi.org/10.1016/j.jpeds.2017.09.075
https://doi.org/10.1016/j.jpeds.2017.09.075
Autor:
Masakazu Kohda, Tomoko Hirata, Yasushi Okazaki, Akihiro Nakaya, Yasushi Sakata, Atsuko Imai-Okazaki, Akira Ohtake, Kei Murayama, Jurg Ott, Kaori Kobayashi
Publikováno v:
Human Mutation. 38:1796-1800
High-density oligonucleotide arrays have been widely used to detect pathogenic chromosomal deletions. In addition to high-density oligonucleotide arrays, programs using whole exome sequencing have become available for estimating copy number variation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f91317b2c02dc5f427f2dfe1eeaa1598
https://doi.org/10.1002/humu.23298
https://doi.org/10.1002/humu.23298
Autor:
Yuhki Tada, Seiichi Takenoshita, Kohji Tanakaya, Hidetaka Eguchi, Yasushi Okazaki, Takeo Iwama, Hideyuki Ishida, Tomoko Hirata, Kensuke Kumamoto, Masakazu Kohda, Kiwamu Akagi
Publikováno v:
Familial Cancer. 15:553-562
Genetic testing for hereditary colorectal polyposis/cancers has become increasingly important. Therefore, the development of a timesaving diagnostic platform is indispensable for clinical practice. We designed and validated target enrichment sequenci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afb45af6b08ed88d266dfa77c407fcfc
https://doi.org/10.1007/s10689-016-9872-x
https://doi.org/10.1007/s10689-016-9872-x
Autor:
Kyoko Ueda, Masanori Takaoka, Hiroyuki Aono, Yasuo Matsumura, Fumio Tsuji, Tomoko Hirata, Kenji Ueda, Masaaki Murai
Publikováno v:
Advances in Pharmacology and Pharmacy. 3:30-42
Tumor necrosis factor (TNF)-α plays a crucial role in the pathogenesis of ischemia/reperfusion-induced renal injury. We demonstrated recently that the preischemic treatment with resiniferatoxin, a transient receptor potential vanilloid 1 (TRPV1) ago
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::135dc16a9bc9e6625c7b76db5213b249
https://doi.org/10.13189/app.2015.030202
https://doi.org/10.13189/app.2015.030202
Autor:
Masaru Shimura, Hiromi Nyuzuki, Tsutomu Suzuki, Yoshihito Kishita, Kengo Banshoya, Keiko Kaiho-Ichimoto, Masato Mori, Jun Yasuda, Masao Nagasaki, Shunsuke Tamaru, Taro Yamazaki, Takuya Fushimi, Kei Murayama, Yutaka Nakachi, Toshiro Aigaki, Koichiro Higasa, Tomoko Hirata, Fumihiko Matsuda, Yohsuke Moriyama, Akira Ohtake, Masakazu Kohda, Yoshimi Tokuzawa, Akihiko Okuda, Yukiko Sato-Miyata, Yzumi Yamashita-Sugahara, Yosuke Mizuno, Yukiko Yatsuka, Kohei Ohnuma, Nurun Nahar Borna, Hiroko Harashima, Yasushi Okazaki, Masayuki Yamamoto, Hidemasa Kato, Asuteka Nagao, Hazuki Maehata
Publikováno v:
PLoS Genetics, Vol 12, Iss 1, p e1005679 (2016)
PLoS Genetics
PLoS Genetics
Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a23d3e627df8fca34ee39cd9fb83a8
http://europepmc.org/articles/PMC4704781?pdf=render
http://europepmc.org/articles/PMC4704781?pdf=render
Autor:
Hideaki Umeyama, Genki Terashi, Tomoko Hirata, Mayuko Takeda-Shitaka, Kazuhiko Kanou, Mitsuo Iwadate
Publikováno v:
Chemical and Pharmaceutical Bulletin. 58:66-75
Almost all proteins express their biological functions through the structural conformation of their specific amino acid sequences. Therefore, acquiring the three-dimensional structures of proteins is very important to elucidate the role of a particul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7f6c3519e392e1d45a80568a849fae
https://doi.org/10.1248/cpb.58.66
https://doi.org/10.1248/cpb.58.66