Zobrazeno 1 - 10
of 340
pro vyhledávání: '"Hideaki, Shiraishi"'
Autor:
Masanori Fujimoto, Yuji Nakamura, Kana Hosoki, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Ayako Hattori, Hideaki Shiraishi, Shinji Saitoh
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100342- (2024)
Summary: Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function of maternal UBE3A. The major cause of AS is a maternal deletion in 15q11.2-q13, and the minor causes are a UBE3A mutation, uniparental disomy (UPD)
Externí odkaz:
https://doaj.org/article/6a1cd99501b64c9ea6920a3c140d3c99
Publikováno v:
Phycology, Vol 4, Iss 1, Pp 104-116 (2024)
The velocity of the gliding movement of filamentous cyanobacteria on a solid surface usually has a strong temperature dependency, and the higher the temperature, the faster the speed. Former studies on this phenomenon were conducted using filamentous
Externí odkaz:
https://doaj.org/article/44c38d4f11db4f61ab1226bb714279aa
Autor:
Takeshi Masuda, Satoru Miura, Yuki Sato, Motoko Tachihara, Akihiro Bessho, Atsushi Nakamura, Taichi Miyawaki, Kohei Yoshimine, Masahide Mori, Hideaki Shiraishi, Kosuke Hamai, Koji Haratani, Sumiko Maeda, Eriko Tabata, Chiyoe Kitagawa, Junko Tanizaki, Takumi Imai, Shohei Nogami, Nobuyuki Yamamoto, Kazuhiko Nakagawa, Noboru Hattori
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Small amounts of epidermal growth factor receptor (EGFR) T790M mutation (micro-T790M), which is detected using droplet digital PCR (ddPCR) but not conventional PCR, in formalin-fixed and paraffin-embedded (FFPE) samples have been investigate
Externí odkaz:
https://doaj.org/article/e8bde43f8c7f40679382597541262079
Autor:
Atsuko Noguchi, Tohru Tezuka, Hiroko Okuda, Hatasu Kobayashi, Kouji H. Harada, Takeshi Yoshida, Shinji Akioka, Keiko Wada, Aya Takeya, Risako Kabata-Murasawa, Daiki Kondo, Ken Ishikawa, Takeshi Asano, Michimasa Fujiwara, Nozomi Hishikawa, Tomoyuki Mizukami, Toshiaki Hitomi, Shohab Youssefian, Yoshihiro Nagai, Manabu Tanaka, Kaoru Eto, Hideaki Shiraishi, Fumimasa Amaya, Akio Koizumi, Tsutomu Takahashi
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 13, p 6832 (2024)
Familial episodic pain syndrome (FEPS) is an early childhood onset disorder of severe episodic limb pain caused mainly by pathogenic variants of SCN11A, SCN10A, and SCN9A, which encode three voltage-gated sodium channels (VGSCs) expressed as key dete
Externí odkaz:
https://doaj.org/article/8ecf42c31d3f41a98eac36f023956cb5
Autor:
Kiyoshi Egawa, Miho Watanabe, Hideaki Shiraishi, Daisuke Sato, Yukitoshi Takahashi, Saori Nishio, Atsuo Fukuda
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Angelman syndrome is a neurodevelopmental disorder caused by loss of function of the maternally expressed UBE3A gene. Treatments for the main manifestations, including cognitive dysfunction or epilepsy, are still under development. Recently,
Externí odkaz:
https://doaj.org/article/d5c4c320a3e745f3b78c458f51bbf036
Autor:
Atsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, Yasushi Iimura, Hiroharu Suzuki, Jun Tohyama, Masafumi Fukuda, Yosuke Ito, Shimpei Baba, Tohru Okanishi, Hideo Enoki, Ayataka Fujimoto, Akiyo Yamamoto, Kentaro Kawamura, Shinsuke Kato, Ryoko Honda, Tomonori Ono, Hideaki Shiraishi, Kiyoshi Egawa, Kentaro Shirai, Shinji Yamamoto, Itaru Hayakawa, Hisashi Kawawaki, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Akiyoshi Kakita, Naomichi Matsumoto
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
Abstract Focal cortical dysplasia is the most common malformation during cortical development, sometimes excised by epilepsy surgery and often caused by somatic variants of the mTOR pathway genes. In this study, we performed a genetic analysis of epi
Externí odkaz:
https://doaj.org/article/6d39077dbc52426b8b9d6e2a39958a82
Autor:
Sachiko Nakakubo, Yasuyoshi Hiramatsu, Takeru Goto, Syuhei Kimura, Masashi Narugami, Midori Nakajima, Yuki Ueda, Hideaki Shiraishi, Atsushi Manabe, Dishary Sharmin, James M. Cook, Kiyoshi Egawa
Publikováno v:
Frontiers in Pharmacology, Vol 14 (2023)
Introduction: Dravet syndrome (DS) is an intractable epilepsy syndrome concomitant with neurodevelopmental disorder that begins in infancy. DS is dominantly caused by mutations in the SCN1A gene, which encodes the α subunit of a voltage-gated Na cha
Externí odkaz:
https://doaj.org/article/39e51f6b8f474a7f94e1feaa261f66f6
Publikováno v:
Asia Oceania Journal of Nuclear Medicine and Biology, Vol 11, Iss 1, Pp 93-96 (2023)
A 2-year-old girl started to wobble without any specific triggers, so the patient was admitted to our hospital's pediatric department. The entire cerebellum showed severe atrophy on MRI and much lower uptake than that in the cerebral cortex on perfus
Externí odkaz:
https://doaj.org/article/6618741af8fb4a93a651f59b8d5c6464
Autor:
Yuki Ueda, Shuta Fujishige, Takeru Goto, Shuhei Kimura, Noriko Namatame, Masashi Narugami, Sachiko Nakakubo, Midori Nakajima, Kiyoshi Egawa, Naoya Kaneko, Kanako Nakayama, Nozomi Hishimura, Takeshi Yamaguchi, Akie Nakamura, Hideaki Shiraishi
Publikováno v:
Epilepsia Open, Vol 7, Iss 1, Pp 194-200 (2022)
Abstract Some patients with developmental and epileptic encephalopathy (DEE) respond to adrenocorticotropic hormone (ACTH) therapy but relapse soon after. While long‐term ACTH therapy (LT‐ACTH) has been attempted for these patients, no previous s
Externí odkaz:
https://doaj.org/article/9504b522244d4dad9f5d6ee797221a34
Autor:
Mitsuhiro Kato, Akiko Kada, Hideaki Shiraishi, Jun Tohyama, Eiji Nakagawa, Yukitoshi Takahashi, Tomoyuki Akiyama, Akiyoshi Kakita, Noriko Miyake, Atsushi Fujita, Akiko M. Saito, Yushi Inoue
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 2, Pp 181-192 (2022)
Abstract Objective To determine whether sirolimus, a mechanistic target of rapamycin (mTOR) inhibitor, reduces epileptic seizures associated with focal cortical dysplasia (FCD) type II. Methods Sixteen patients (aged 6–57 years) with FCD type II re
Externí odkaz:
https://doaj.org/article/a7c477d618ac4207af722c64a7c41046