Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Yosuke Nishio"'
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
Somatic mutations in MYCN have been identified across various tumors, playing pivotal roles in tumorigenesis, tumor progression, and unfavorable prognoses. Despite its established notoriety as an oncogenic driver, there is a growing interest in explo
Externí odkaz:
https://doaj.org/article/bc8e53e220204ef6910f36236a31c184
Autor:
Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki, Yosuke Nishio, Tomoo Ogi, Jun Tohyama, Takeshi Ikeuchi
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
Abstract Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal fusion, extensive posterior neck vertebral fusion, congenital heart disease, and
Externí odkaz:
https://doaj.org/article/f2955635b18a4ecfaf06d51f79a92c9f
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:
Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, Yoshiyuki Takahashi
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of
Externí odkaz:
https://doaj.org/article/74fa295534ea4b28abbb48acc9d5d11c
Publikováno v:
International Journal of Erosion Control Engineering. 15:31-38
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:
Shinya Hara, Tomohiko Nakata, Yosuke Nishio, Kotaro Narita, Tadashi Kaname, Fumi Sawamura, Hajime Narita, Yoshihiko Kawano, Hideki Muramatsu, Toshiki Takeo, Hiroyuki Kidokoro, Jun Natsume
Publikováno v:
Brain and Development. 43:459-463
Background MICPCH is manifested as microcephaly associated with pontocerebellar hypoplasia and global developmental delay but developmental regression has never been reported. We describe the detailed clinical history of a woman with intellectual dis
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
Autor:
Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, Yoshiyuki Takahashi
Publikováno v:
Scientific reports. 12(1)
Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of the Init
Autor:
Jiro Takeuchi, Yuta Sakanishi, Tomio Suzuki, Rei Suganaga, Kuniko Nakayama, Yosuke Nishioka, Hiroshi Chiba, Tomomi Kishi, Ako Machino, Mami Mastumura, Tadao Okada
Publikováno v:
BMJ Open, Vol 13, Iss 11 (2023)
Objective The Japanese government suspended the proactive recommendation of the human papillomavirus vaccine (HPVv) in 2013, and the vaccination rate of HPVv declined to
Externí odkaz:
https://doaj.org/article/7949e4f7f4f8477daefcc8c3fb578516