Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sayaka Okuzono"'
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:
Sayaka Okuzono, Masataka Ishimura, Shunsuke Kanno, Motoshi Sonoda, Noriyuki Kaku, Yoshitomo Motomura, Hisanori Nishio, Utako Oba, Masuo Hanada, Jun-ichi Fukushi, Michiyo Urata, Dongchon Kang, Hidetoshi Takada, Shouichi Ohga
Publikováno v:
Annals of Clinical Microbiology and Antimicrobials, Vol 17, Iss 1, Pp 1-6 (2018)
Abstract Background Streptococcus pyogenes is an uncommon pathogen of purpura fulminans, and the pathogenesis of S. pyogenes-purpura fulminans remains unclear because of paucity of cases. We reported a pediatric case of S. pyogenes-purpura fulminans
Externí odkaz:
https://doaj.org/article/c53454f308de4f91b037dee041a4890d
Publikováno v:
Pediatric research. 92(2)
Phelan-McDermid syndrome (PMS) is a rare genetic disorder presenting with developmental delay, epilepsy, and autism spectrum disorder (ASD). The segmental deletion of chromosome 22q13.3 affects the copy number of SHANK3, the gene encoding a scaffoldi
Autor:
Shouichi Ohga, Ryoko Fukai, Marie Noda, Sayaka Okuzono, Naomichi Matsumoto, Yasunari Sakai, Hiroyuki Torisu, Yoshito Ishizaki, Satoshi Akamine, Shunsuke Kanno, Ryutaro Kira, Noriyuki Kaku, Masafumi Sanefuji, Sooyoung Lee, Noriko Miyake
Publikováno v:
Brain and Development. 41:378-381
Background Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by cardiovascular anomalies, dysmorphic faces, ectodermal abnormalities and developmental delays. Mutations in BRAF and other RAS-MAPK pathway-associated genes
Autor:
Yuki Matsushita, Yasunari Sakai, Shouichi Ohga, Yoshito Ishizaki, Satoshi Akamine, Hiroki Kato, Hiroaki Ono, Keiji Masuda, Noriaki Sagata, Tohru Ishitani, Hiroyuki Yamamoto, Naomichi Matsumoto, Masahiro Ohgidani, Yusaku Nakabeppu, Masafumi Sanefuji, Hirotomo Saitsu, Sayaka Okuzono, Dongchon Kang, Daiki Setoyama, Shigenobu Kanba, Takahiro A. Kato
Publikováno v:
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyREFERENCES. 34(12)
Developmental and epileptic encephalopathy (DEE) represents a group of neurodevelopmental disorders characterized by infantile-onset intractable seizures and unfavorable prognosis of psychomotor development. To date, hundreds of genes have been linke
Autor:
Sayaka Okuzono, Shouichi Ohga, Yuko Ichimiya, Yuri Sonoda, Michiko Torio, Misato Okamoto, Yasunari Sakai, Shouji Noutomi, Jyunya Nagata, Masafumi Sanefuji, Shunichi Adachi, Yoshitomo Motomura
Publikováno v:
Nutrition. 90:111275
Background Malnutrition and vitamin deficiency are growing concerns in the clinical management of children with autism spectrum disorder (ASD). This case report presents a boy with ASD who developed vitamin A deficiency during follow-up. Case report
Autor:
Shouichi Ohga, Utako Oba, Jun Ichi Fukushi, Shunsuke Kanno, Masuo Hanada, Yoshitomo Motomura, Noriyuki Kaku, Hidetoshi Takada, Motoshi Sonoda, Masataka Ishimura, Sayaka Okuzono, Dongchon Kang, Hisanori Nishio, Michiyo Urata
Publikováno v:
Annals of Clinical Microbiology and Antimicrobials
Annals of Clinical Microbiology and Antimicrobials, Vol 17, Iss 1, Pp 1-6 (2018)
Annals of Clinical Microbiology and Antimicrobials, Vol 17, Iss 1, Pp 1-6 (2018)
Background Streptococcus pyogenes is an uncommon pathogen of purpura fulminans, and the pathogenesis of S. pyogenes-purpura fulminans remains unclear because of paucity of cases. We reported a pediatric case of S. pyogenes-purpura fulminans with lite