Zobrazeno 1 - 10
of 322
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Yuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, Shimakawa Shuichi, Kei Ohashi, Shinji Saitoh, Atsushi Ogawa, Keisuke Hamada, Masamune Sakamoto, Noriko Miyake, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Kazuhiro Ogata, Yuri Uchiyama, Naomichi Matsumoto
Publikováno v:
Clinical Genetics. 103:590-595
AFF3 at 2q11.2 encodes the nuclear transcriptional activator AF4/FMR2 Family Member 3. AFF3 constitutes super elongation complex like 3, which plays a role in promoting the expression of genes involved in neurogenesis and development. The degron moti
Autor:
Takeshi Suzuki, Yuji Ito, Tadashi Ito, Hiroyuki Kidokoro, Koji Noritake, Keita Tsujimura, Shinji Saitoh, Hiroyuki Yamamoto, Nobuhiko Ochi, Naoko Ishihara, Izumi Yasui, Hideshi Sugiura, Tomohiko Nakata, Jun Natsume
Publikováno v:
European Journal of Paediatric Neurology. 42:15-21
Objectives: Ataxic-rigid gait is a characteristic gait pathology in patients with Rett syndrome (RTT). In the present study, we aimed to quantitatively evaluate gait pathology in patients with RTT using three-dimensional gait analysis (3DGA). Methods
Autor:
Aya Yoshida, Kohei Aoyama, Naoya Yamaguchi, Atsushi Suzuki, Haruo Mizuno, Hayato Tada, Shinji Saitoh
Publikováno v:
Clinical Pediatric Endocrinology. 32:114-118
Autor:
Nayan C. Mohanto, Yuki Ito, Sayaka Kato, Takeshi Ebara, Kayo Kaneko, Tomoyuki Tsuchiyama, Mayumi Sugiura-Ogasawara, Shinji Saitoh, Michihiro Kamijima
Publikováno v:
Environmental Science & Technology. 57:395-404
Phthalate exposure monitoring and risk assessment in non-toilet-trained children are rarely reported. This adjunct study of the Japan Environment and Children's Study assessed cumulative health risks in 1.5-year-old toddlers in the Aichi regional sub
Publikováno v:
Scientific Reports. 13
Background: Excess as well as deficiency of iron are deleterious to cellular and organ homeostasis. Serum ferritin levels have been used as a clinical marker of iron storage; however, their distribution and determinants in sick newborn infants remain
Autor:
Yutaka Negishi, Kenji Kurosawa, Kyoko Takano, Keiko Matsubara, Takeshi Nishiyama, Shinji Saitoh
Publikováno v:
Journal of Human Genetics. 67:735-738
Schaaf-Yang syndrome (SYS) is a congenital disorder characterized by developmental delay, autism spectrum disorder and congenital joint contractures. In this study, a nationwide epidemiological questionnaire-based survey of SYS in the Japanese popula
Autor:
Yo Hamaguchi, Hiroyuki Mishima, Tomoko Kawai, Shinji Saitoh, Kenichiro Hata, Akira Kinoshita, Koh-ichiro Yoshiura
Publikováno v:
Journal of Human Genetics. 67:711-720
Kabuki syndrome (KS) is a congenital malformation syndrome caused by mutations in the KMT2D and KDM6A genes that encode histone modification enzymes. Although KS is considered a single gene disorder, its symptoms vary widely. Recently, disease-specif
Autor:
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J.Cullen, Shinji Saitoh, Kohji Kato
Publikováno v:
Journal of Medical Genetics. 60:359-367
PurposeThe Retriever subunitVPS35Lis the third responsible gene for Ritscher-Schinzel syndrome (RSS) afterWASHC5andCCDC22. To date, only one pair of siblings have been reported and their condition was significantly more severe than typical RSS. This
Autor:
Kosuke Yamamoto, Kei Ohashi, Masanori Fujimoto, Daisuke Ieda, Yuji Nakamura, Ayako Hattori, Tadashi Kaname, Kuniko Ieda, Ichizo Nishino, Shinji Saitoh
Publikováno v:
Brain and Development. 44:578-582
Autor:
Sachiko Iwata, Reiji Katayama, Kennosuke Tsuda, Yung‐Chieh Lin, Tsuyoshi Kurata, Masahiro Kinoshita, Koya Kawase, Takenori Kato, Shin Kato, Tadashi Hisano, Motoki Oda, Etsuko Ohmae, Sachio Takashima, Yuko Araki, Shinji Saitoh, Osuke Iwata
Publikováno v:
Annals of Clinical and Translational Neurology. 9:1417-1427
MRI provides useful information regarding brain maturation and injury in newborn infants. However, MRI studies are generally restricted during acute phase, resulting in uncertainty around upstream clinical events responsible for subtle cerebral injur