Zobrazeno 1 - 10
of 213
pro vyhledávání: '"Yasunari Sakai"'
Autor:
Ryoji Taira, Satoshi Akamine, Sayaka Okuzono, Fumihiko Fujii, Eriko Hatai, Kousuke Yonemoto, Ryuichi Takemoto, Hiroki Kato, Keiji Masuda, Takahiro A. Kato, Ryutaro Kira, Keita Tsujimura, Kenichiro Yamamura, Norio Ozaki, Shouichi Ohga, Yasunari Sakai
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract GNAO1 encodes G protein subunit alpha O1 (Gαo). Pathogenic variations in GNAO1 cause developmental delay, intractable seizures, and progressive involuntary movements from early infancy. Because the functional role of GNAO1 in the developing
Externí odkaz:
https://doaj.org/article/d8d36bc2a350495790ccaae44b9b9ab7
Autor:
Fumihiko Fujii, Hikaru Kanemasa, Sayaka Okuzono, Daiki Setoyama, Ryoji Taira, Kousuke Yonemoto, Yoshitomo Motomura, Hiroki Kato, Keiji Masuda, Takahiro A. Kato, Shouichi Ohga, Yasunari Sakai
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 6 (2024)
Externí odkaz:
https://doaj.org/article/3472d26e58c74f6cb7b572ff8411a0fa
Autor:
Pin Fee Chong, Kanako Higashi, Wakato Matsuoka, Koichi Arimura, Yuhei Sangatsuda, Katsuma Iwaki, Yuri Sonoda, Yuko Ichimiya, Akiko Kamori, Akiko Kawakami, Soichi Mizuguchi, Noriyuki Kaku, Yasunari Sakai, Shouichi Ohga
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background The systemic manifestations of coronavirus disease 2019 (COVID-19) include hyperinflammatory reactions in various organs. Recent studies showed evidence for the frequent involvement of central nervous system in affected patients;
Externí odkaz:
https://doaj.org/article/feb9add72d6941e396818ada54405f17
Autor:
Xiao Sun, Jun Kong, Shuangshan Dong, Hiroki Kato, Hiroshi Sato, Yuta Hirofuji, Yosuke Ito, Lu Wang, Takahiro A. Kato, Michiko Torio, Yasunari Sakai, Shouichi Ohga, Satoshi Fukumoto, Keiji Masuda
Publikováno v:
FASEB BioAdvances, Vol 5, Iss 12, Pp 507-520 (2023)
AbstractMutations in the gene encoding the transient receptor potential vanilloid member 4 (TRPV4), a Ca2+ permeable nonselective cation channel, cause TRPV4‐related disorders. TRPV4 is widely expressed in the brain; however, the pathogenesis under
Externí odkaz:
https://doaj.org/article/0cdbe5a4f55047389e8c613fbccc9aa8
Autor:
Kanako Higashi, Yuri Sonoda, Noriyuki Kaku, Fumihiko Fujii, Fumiya Yamashita, Sooyoung Lee, Vlad Tocan, Go Ebihara, Wakato Matsuoka, Kenichi Tetsuhara, Motoshi Sonoda, Pin Fee Chong, Yuichi Mushimoto, Kanako Kojima‐Ishii, Masataka Ishimura, Yuhki Koga, Atsuhisa Fukuta, Nana Akagi Tsuchihashi, Yoshikazu Kikuchi, Takahito Karashima, Takaaki Sawada, Taeko Hotta, Makoto Yoshimitsu, Hideyuki Terazono, Tatsuro Tajiri, Takashi Nakagawa, Yasunari Sakai, Kimitoshi Nakamura, Shouichi Ohga
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the GBA1‐encoded enzyme, β‐glucocerebrosidase. Enzyme replacement therapy is ineffective for neuronopathic Gaucher disease (nGD). High‐dose ambroxol has be
Externí odkaz:
https://doaj.org/article/83b9e0bd176a497ca08bdcbe19378101
Autor:
Noritoshi Shirozu, Masahiro Ohgidani, Nobuhiro Hata, Shunya Tanaka, Shogo Inamine, Noriaki Sagata, Tetsuaki Kimura, Ituro Inoue, Koichi Arimura, Akira Nakamizo, Ataru Nishimura, Naoki Maehara, Soh Takagishi, Katsuma Iwaki, Tomohiro Nakao, Keiji Masuda, Yasunari Sakai, Masahiro Mizoguchi, Koji Yoshimoto, Takahiro A. Kato
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Angiogenic factors associated with Moyamoya disease (MMD) are overexpressed in M2 polarized microglia in ischemic stroke, suggesting that microglia may be involved in the pathophysiology of MMD; however, existing approaches are not applicabl
Externí odkaz:
https://doaj.org/article/cf03e8acbc4144bdad49470e7083ea0b
Autor:
Vlad Tocan, Akari Nakamura-Utsunomiya, Yuri Sonoda, Wakato Matsuoka, Soichi Mizuguchi, Yuichiro Muto, Takaaki Hijioka, Masao Nogami, Daiki Sasaoka, Fusa Nagamatsu, Utako Oba, Naonori Kawakubo, Hiroshi Hamada, Yuichi Mushimoto, Pin Fee Chong, Noriyuki Kaku, Yuhki Koga, Yasunari Sakai, Yoshinao Oda, Tatsuro Tajiri, Shouichi Ohga
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2820 (2024)
Severe obesity in young children prompts for a differential diagnosis that includes syndromic conditions. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) syndrome is a potentially fatal disorde
Externí odkaz:
https://doaj.org/article/fd88464472274fee93c273e3d3035c15
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-4 (2022)
Abstract Background Intracranial aneurysms (ICA) rarely occur in children under 3 years of age. Little is known for neuroimaging parameters that predict survival and clinical outcomes of patients with ICA in early childhood. Case presentation A 2-yea
Externí odkaz:
https://doaj.org/article/d2c998ffbfb643b19d00c143191ebfcf
Autor:
Xiao Sun, Hiroki Kato, Hiroshi Sato, Xu Han, Yuta Hirofuji, Takahiro A. Kato, Yasunari Sakai, Shouichi Ohga, Satoshi Fukumoto, Keiji Masuda
Publikováno v:
FASEB BioAdvances, Vol 4, Iss 7, Pp 454-467 (2022)
Abstract Down syndrome (DS) is one of the common genetic disorders caused by the trisomy of human chromosome 21 (HSA21). Mitochondrial dysfunction and redox imbalance play important roles in DS pathology, and altered dopaminergic regulation has been
Externí odkaz:
https://doaj.org/article/af7dadf862714dad8523cdb726f11d10
Autor:
Hiroshi Sakuma, Jun-ichi Takanashi, Kazuhiro Muramatsu, Hidehito Kondo, Takashi Shiihara, Motomasa Suzuki, Kazuo Okanari, Mariko Kasai, Osamu Mitani, Tomoyuki Nakazawa, Taku Omata, Konomi Shimoda, Yuichi Abe, Yoshihiro Maegaki, Kei Murayama, Yuka Murofushi, Hiroaki Nagase, Akihisa Okumura, Yasunari Sakai, Hiroko Tada, Masashi Mizuguchi, Japanese Pediatric Neuro-COVID-19 Study Group, Tsuyoshi Matsuoka, Hiroshi Oakada, Tatsuharu Sato, Kenjiro Kikuchi, Satoshi Akamine, Nanako Kawata, Shinichiro Morichi, Hideyuki Iwayama, Ryuta Tanaka, Yoshiyuki Hanaoka, Yuki Minamisawa, Tatsuya Ema, Mitsuo Motobayashi, Tomoshiro Ito, Fumikazu Sano
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Background and objectivesTo clarify whether severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection cause acute encephalopathy in children and which are the most common syndromes that cause them and what are the outcomes.MethodsA natio
Externí odkaz:
https://doaj.org/article/d27b86d3fea846ce99dd9d7559309e79