Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Katsuhisa, Ogata"'
Autor:
Akinori Nakamura, Tsuyoshi Matsumura, Katsuhisa Ogata, Madoka Mori‐Yoshimura, Eri Takeshita, Koichi Kimura, Takahiro Kawashima, Yui Tomo, Hajime Arahata, Daigo Miyazaki, Yasuhiro Takeshima, Toshiaki Takahashi, Keiko Ishigaki, Satoshi Kuru, Akiko Wakisaka, Hiroyuki Awano, Michinori Funato, Tatsuharu Sato, Yoshiaki Saito, Hiroto Takada, Kazuma Sugie, Michio Kobayashi, Shiro Ozasa, Tatsuya Fujii, Yoshihiro Maegaki, Hideki Oi, Hisateru Tachimori, Hirofumi Komaki
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 12, Pp 2360-2372 (2023)
Abstract Objective Becker muscular dystrophy (BMD) is a milder variant of Duchenne muscular dystrophy (DMD), a lethal X‐linked muscular disorder. Here, we aim to investigat the clinical involvement of skeletal, respiratory, cardiac, and central ner
Externí odkaz:
https://doaj.org/article/a987e5299b4d4ea4ad7e57127afced9b
Autor:
Megumu K. Saito, Mitsujiro Osawa, Nao Tsuchida, Kotaro Shiraishi, Akira Niwa, Knut Woltjen, Isao Asaka, Katsuhisa Ogata, Suminobu Ito, Shuzo Kobayashi, Shinya Yamanaka
Publikováno v:
Inflammation and Regeneration, Vol 43, Iss 1, Pp 1-10 (2023)
Abstract Background Disease-specific induced pluripotent stem cells (iPSCs) are useful tools for pathological analysis and diagnosis of rare diseases. Given the limited available resources, banking such disease-derived iPSCs and promoting their wides
Externí odkaz:
https://doaj.org/article/4c2420d60fd14b7195ed6fa7be24a185
Autor:
Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, Masaki Okubo, Taishi Wada, Kohei Hamanaka, Naohisa Ueda, Hitaru Kishida, Gaku Minase, Atsuhiro Matsuno, Minori Kodaira, Katsuhisa Ogata, Rumiko Kato, Atsuhiko Sugiyama, Ayako Sasaki, Takabumi Miyama, Mai Satoh, Yuri Uchiyama, Naomi Tsuchida, Haruka Hamanoue, Kazuharu Misawa, Kiyoshi Hayasaka, Yoshiki Sekijima, Hiroaki Adachi, Kunihiro Yoshida, Fumiaki Tanaka, Takeshi Mizuguchi, Naomichi Matsumoto
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-15 (2022)
Abstract We developed a diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available, low throughput diagnostic methods. We employed the real-time target enrichment system of the nanopore GridION sequence
Externí odkaz:
https://doaj.org/article/5c4b0d3d0ea14f9fa7378606182803e5
Autor:
Hirofumi Komaki, Yoshihiro Maegaki, Tsuyoshi Matsumura, Kazuhiro Shiraishi, Hiroyuki Awano, Akinori Nakamura, Satoru Kinoshita, Katsuhisa Ogata, Keiko Ishigaki, Shinji Saitoh, Michinori Funato, Satoshi Kuru, Takahiro Nakayama, Yasuyuki Iwata, Hiroyuki Yajima, Shin’ichi Takeda
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 2, Pp 181-190 (2020)
Abstract Objective Duchenne muscular dystrophy (DMD) is a progressive muscular disease characterized by chronic cycles of inflammatory and necrotic processes. Prostaglandin D2 (PGD2) is produced by hematopoietic PGD synthase (HPGDS), which is patholo
Externí odkaz:
https://doaj.org/article/001a1b84c3124cd5bcf321aa65fa9301
Autor:
Satoko Miyatake, Kunihiro Yoshida, Eriko Koshimizu, Hiroshi Doi, Mitsunori Yamada, Yosuke Miyaji, Naohisa Ueda, Jun Tsuyuzaki, Minori Kodaira, Hiroyuki Onoue, Masataka Taguri, Shintaro Imamura, Hiromi Fukuda, Kohei Hamanaka, Atsushi Fujita, Mai Satoh, Takabumi Miyama, Nobuko Watanabe, Yusuke Kurita, Masaki Okubo, Kenichi Tanaka, Hitaru Kishida, Shigeru Koyano, Tatsuya Takahashi, Yoya Ono, Kazuhiro Higashida, Nobuaki Yoshikura, Katsuhisa Ogata, Rumiko Kato, Naomi Tsuchida, Yuri Uchiyama, Noriko Miyake, Takayoshi Shimohata, Fumiaki Tanaka, Takeshi Mizuguchi, Naomichi Matsumoto
Publikováno v:
Brain. 145:1139-1150
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, slow-progressing multisystem neurodegenerative disorder. Biallelic AAGGG repeat expansion in RFC1 has been identified as causative of this disease, and repeat conf
Autor:
Tomoko Saito, Toshio Saito, Hiroya Hashimoto, Katsuhisa Ogata, Michio Kobayashi, Hiroto Takada, Satoshi Kuru, Takashi Kimura, Akinori Nakamura, Tsuyoshi Matsumura
Publikováno v:
Musclenerve.
Introduction/Aims Due to muscular weakness and cardiopulmonary dysfunction, patients with muscular dystrophy (MD) have an increased risk of serious complications from coronavirus disease 2019 (COVID-19). Although vaccination is recommended, COVID-19
Autor:
Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino
Dystrophinopathy is caused by alterations in DMD. Approximately 1% of patients remain genetically undiagnosed because intronic variations are not detected by standard methods. Here, we combined laboratory and in silico analyses to identify disease-ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9aae276abc71be95b910a4bbc1700357
https://doi.org/10.21203/rs.3.rs-1772868/v1
https://doi.org/10.21203/rs.3.rs-1772868/v1
Autor:
Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino
Publikováno v:
Human Genetics
Human Genetics, 2022, ⟨10.1007/s00439-022-02485-2⟩
Human Genetics, 2022, ⟨10.1007/s00439-022-02485-2⟩
Dystrophinopathy is caused by alterations in DMD. Approximately 1% of patients remain genetically undiagnosed, because intronic variations are not detected by standard methods. Here, we combined laboratory and in silico analyses to identify disease-c
Autor:
Tatsushi Toda, Gregor K. Wenning, Takashi Matsukawa, Jun Goto, Jun Mitsui, Shoji Tsuji, Katsuhisa Ogata, Hiroyuki Ishiura, Ayaka Chikada
Publikováno v:
Neurology and Clinical Neuroscience. 9:171-180
Publikováno v:
Rinsho Shinkeigaku. 61:161-165
We analyzed the records of inpatients with amyotrophic lateral sclerosis (ALS) treated at 27 specialized institutions for muscular dystrophy in Japan from 1999 to 2013 registered in a database on October 1 of each year. The total number of ALS inpati