Zobrazeno 31 - 40
of 402
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Shinji Saitoh
Publikováno v:
Cells, Vol 11, Iss 1, p 148 (2022)
The quality and quantity of membrane proteins are precisely and dynamically maintained through an endosomal recycling process. This endosomal recycling is executed by two protein complexes: retromer and recently identified retriever. Defects in the f
Externí odkaz:
https://doaj.org/article/35460ecf1f71496986e1badc2972b7e5
Autor:
Daisuke Ieda, Yutaka Negishi, Tomomi Miyamoto, Yoshikazu Johmura, Natsuko Kumamoto, Kohji Kato, Ichiro Miyoshi, Makoto Nakanishi, Shinya Ugawa, Hisashi Oishi, Shinji Saitoh
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0237814 (2020)
Schaaf-Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternal allele of MAGEL2, located in the Prader-Willi critical region, 15q11-q13. Although the phenotypes of SYS overlap those of Prader-Willi syndrome
Externí odkaz:
https://doaj.org/article/f3848521228e4611b929283e23d91d29
Autor:
Naoko Oya, Yuki Ito, Takeshi Ebara, Sayaka Kato, Keisuke Hioki, Arisa Aoi, Jun Ueyama, Tomoko Oguri, Naoto Shoji, Mayumi Sugiura-Ogasawara, Shinji Saitoh, Michihiro Kamijima
Publikováno v:
Environment International, Vol 134, Iss , Pp - (2020)
Organophosphate (OP) pesticide exposure is a public health issue due to its potential link to neurodevelopmental problems in children. This study aimed to examine the exposure levels of OP pesticides in Japanese toddlers and explore the possible cont
Externí odkaz:
https://doaj.org/article/f3793219ea994b7095357bcc1a3d25f4
Autor:
Yuka Watanabe, Takahiro Sugiura, Mari Sugimoto, Yasuko Togawa, Masanori Kouwaki, Norihisa Koyama, Shinji Saitoh
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Virus-associated hemophagocytic syndrome (VAHS) in the neonatal period has a high mortality. Although clear diagnostic criteria and treatment methods have not been established, early diagnosis and treatment are critical. However, treatments for VAHS
Externí odkaz:
https://doaj.org/article/cc950d7152f6415d8b4ac3fa18a64dea
Autor:
Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto
Publikováno v:
Cell Reports, Vol 22, Iss 3, Pp 734-747 (2018)
Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the “de novo paradigm” of ASDs across ethnicities. Based on
Externí odkaz:
https://doaj.org/article/e51cd53b5a7e46769a72311ea20870dd
Autor:
Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Abstract Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hy
Externí odkaz:
https://doaj.org/article/abd2bb894e10470690aae074befb794d
Autor:
Sachiko Iwata, Masahiro Kinoshita, Hisayoshi Okamura, Kennosuke Tsuda, Mamoru Saikusa, Eimei Harada, Shinji Saitoh, Osuke Iwata
Publikováno v:
PeerJ, Vol 7, p e6368 (2019)
Backgrounds Environmental factors during early life alter the hypothalamus-pituitary-adrenal (HPA) axis regulation and increase the risk of diseases in later life. However, adrenal function at each developmental stage has not fully been investigated
Externí odkaz:
https://doaj.org/article/7a0771f724584816a29664b66b458dda
Autor:
Yuji Nakamura, Kohji Kato, Naomi Tsuchida, Naomichi Matsumoto, Yoshiyuki Takahashi, Shinji Saitoh
Publikováno v:
PLoS ONE, Vol 14, Iss 8, p e0221482 (2019)
There have been increasing number of reports of SZT2-related neurological diseases, the main symptoms of which are epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. SZT2 functions as a regulator of mechanistic target of ra
Externí odkaz:
https://doaj.org/article/b1151488c60e420d9911aa61c8d53f53
Autor:
Daichi Shigemizu, Fuyuki Miya, Shintaro Akiyama, Shujiro Okuda, Keith A. Boroevich, Akihiro Fujimoto, Hidewaki Nakagawa, Kouichi Ozaki, Shumpei Niida, Yonehiro Kanemura, Nobuhiko Okamoto, Shinji Saitoh, Mitsuhiro Kato, Mami Yamasaki, Tatsuo Matsunaga, Hideki Mutai, Kenjiro Kosaki, Tatsuhiko Tsunoda
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-2 (2018)
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.
Externí odkaz:
https://doaj.org/article/7988a2b76c704be682dbca4be45381c1
Autor:
Naomi Kamioka, Takayasu Nomura, Taisuke Kato, Mizuki Yoneyama, Takehiro Sobajima, Hisashi Tanida, Takehiro Morishita, Shiro Sugiura, Yuichiro Suda, Yasutaka Hirabayashi, Chieko Misawa, Hidenori Tanaka, Mihoko Mizuno, Akihiko Terada, Yasushi Kanda, Shinji Saitoh
Publikováno v:
Allergology International, Vol 66, Iss 4, Pp 627-628 (2017)
Externí odkaz:
https://doaj.org/article/124034a03abb4f16bb6dfcf2acfd7368