Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Shiomi Otsuji"'
Autor:
Yosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, Hiroshi Futagawa, Chloé Quélin, Saori Masuda, Antonio Vitobello, Shiomi Otsuji, Hossam H. Shawki, Hisashi Oishi, Christel Thauvin-Robinet, Toshiki Takenouchi, Kenjiro Kosaki, Yoshiyuki Takahashi, Shinji Saitoh
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100238- (2023)
Summary: MYCN, a member of the MYC proto-oncogene family, regulates cell growth and proliferation. Somatic mutations of MYCN are identified in various tumors, and germline loss-of-function variants are responsible for Feingold syndrome, characterized
Externí odkaz:
https://doaj.org/article/500afd5a9bde413c8c9a8ccf0d6652d9
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a103af248072009599c3a071f407cb0
https://doi.org/10.1136/jmg-2022-108602
https://doi.org/10.1136/jmg-2022-108602
Autor:
Kouji Isobe, Daisuke Ieda, Fuyuki Miya, Rieko Miyachi, Shiomi Otsuji, Masami Asai, Tatsuhiko Tsunoda, Kenjiro Kosaki, Ayako Hattori, Shinji Saitoh, Mihoko Mizuno
Publikováno v:
Brain and Development. 44:249-253
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::84043806ec1c807f1a73f6859fb1b905
https://doi.org/10.1016/j.braindev.2021.11.007
https://doi.org/10.1016/j.braindev.2021.11.007
Autor:
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Huber, Céline, Antón-Plágaro, Carlos, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Simon, Marleen, van Binsbergen, Ellen, van Jaarsveld, Richard H., Naomichi Matsumoto, Cormier-Daire, Valerie, Cullen, Peter J., Shinji Saitoh, Kohji Kato
Publikováno v:
Journal of Medical Genetics; Apr2023, Vol. 60 Issue 4, p359-367, 14p