Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kohji Kato"'
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:
Yumiko Kasugai, Shinichiro Nakada, Takuya Ichimura, Mutsumi Yamane, Yoshiyuki Takahashi, Katsushi Tokunaga, Keitaro Matsuo, Kotaro Yuge, Hideki Muramatsu, Masao Nagasaki, Seiji Kito, Yuichiro Hara, Koichiro Higasa, Naomichi Matsumoto, Motoharu Hamada, Tomoo Ogi, Takayoshi Suganami, Yuko Kotani, Hirotoshi Sakaguchi, Yusuke Okuno, Shuichi Ozono, Norisato Mitsutake, Yosuke Kawai, Toshiro Kawakita, Yasuyoshi Oka, Fumihiko Matsuda, Taichi Hirano, Noriko Miyake, Yoriko Watanabe, Mayuko Shimada, Miyako Tanaka, Honoka Takeshima, Keiichi Isoyama, Hideo Kaneko, Tomoji Mashimo, Seiji Mizuno, Katsuhiro Hanada, Yuka Nakazawa, Masafumi Onodera, Kohji Kato, Seiji Kojima
Publikováno v:
Science Advances. 6
Rs671 in the aldehyde dehydrogenase 2 gene (ALDH2) is the cause of Asian alcohol flushing response after drinking. ALDH2 detoxifies endogenous aldehydes, which are the major source of DNA damage re...
Autor:
Daisuke Ieda, Tomomi Miyamoto, Makoto Nakanishi, Yutaka Negishi, Kohji Kato, Shinya Ugawa, Hisashi Oishi, Natsuko Kumamoto, Shinji Saitoh, Ichiro Miyoshi, Yoshikazu Johmura
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0237814 (2020)
PLoS ONE
PLoS ONE
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
Autor:
Yuji Nakamura, Naomi Tsuchida, Yoshiyuki Takahashi, Shinji Saitoh, Kohji Kato, Naomichi Matsumoto
Publikováno v:
PLoS ONE
PLoS ONE, Vol 14, Iss 8, p e0221482 (2019)
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