Abnormality in GABAergic postsynaptic transmission associated with anxiety in Bronx waltzer mice with an Srrm4 mutation

Autor: Shirakawa, Yuka, Li, Heng, Inoue, Yuki, Izumi, Hitomi, Kaga, Yoshimi, Goto, Yu-ichi, Inoue, Ken, Inagaki, Masumi

Publikováno v: In IBRO Neuroscience Reports June 2024 16:67-77

A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD

Autor: Ishibashi-Ueda, Hatsue, Tomita, Tsutomu, Noguchi, Michio, Takahashi, Ayako, Goto, Yu-ichi, Yoshida, Sumiko, Hattori, Kotaro, Matsumura, Ryo, Iida, Aritoshi, Maruoka, Yutaka, Gatanaga, Hiroyuki, Sugiyama, Masaya, Suzuki, Satoshi, Miyo, Kengo, Matsubara, Yoichi, Umezawa, Akihiro, Hata, Kenichiro, Kaname, Tadashi, Ozaki, Kouichi, Tokuda, Haruhiko, Watanabe, Hiroshi, Niida, Shumpei, Noiri, Eisei, Kitajima, Koji, Omae, Yosuke, Miyahara, Reiko, Shimanuki, Hideyuki, Kawai, Yosuke, Tokunaga, Katsushi, Suga, Akiko, Mizobuchi, Kei, Inooka, Taiga, Yoshitake, Kazutoshi, Minematsu, Naoko, Tsunoda, Kazushige, Kuniyoshi, Kazuki, Hayashi, Takaaki, Ueno, Shinji, Iwata, Takeshi

Publikováno v: In Genetics in Medicine Open 2024 2

Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder

Autor: Kushima, Itaru, Nakatochi, Masahiro, Aleksic, Branko, Okada, Takashi, Kimura, Hiroki, Kato, Hidekazu, Morikawa, Mako, Inada, Toshiya, Ishizuka, Kanako, Torii, Youta, Nakamura, Yukako, Tanaka, Satoshi, Imaeda, Miho, Takahashi, Nagahide, Yamamoto, Maeri, Iwamoto, Kunihiro, Nawa, Yoshihiro, Ogawa, Nanayo, Iritani, Shuji, Hayashi, Yu, Lo, Tzuyao, Otgonbayar, Gantsooj, Furuta, Sho, Iwata, Nakao, Ikeda, Masashi, Saito, Takeo, Ninomiya, Kohei, Okochi, Tomo, Hashimoto, Ryota, Yamamori, Hidenaga, Yasuda, Yuka, Fujimoto, Michiko, Miura, Kenichiro, Itokawa, Masanari, Arai, Makoto, Miyashita, Mitsuhiro, Toriumi, Kazuya, Ohi, Kazutaka, Shioiri, Toshiki, Kitaichi, Kiyoyuki, Someya, Toshiyuki, Watanabe, Yuichiro, Egawa, Jun, Takahashi, Tsutomu, Suzuki, Michio, Sasaki, Tsukasa, Tochigi, Mamoru, Nishimura, Fumichika, Yamasue, Hidenori, Kuwabara, Hitoshi, Wakuda, Tomoyasu, Kato, Takahiro A., Kanba, Shigenobu, Horikawa, Hideki, Usami, Masahide, Kodaira, Masaki, Watanabe, Kyota, Yoshikawa, Takeo, Toyota, Tomoko, Yokoyama, Shigeru, Munesue, Toshio, Kimura, Ryo, Funabiki, Yasuko, Kosaka, Hirotaka, Jung, Minyoung, Kasai, Kiyoto, Ikegame, Tempei, Jinde, Seiichiro, Numata, Shusuke, Kinoshita, Makoto, Kato, Tadafumi, Kakiuchi, Chihiro, Yamakawa, Kazuhiro, Suzuki, Toshimitsu, Hashimoto, Naoki, Ishikawa, Shuhei, Yamagata, Bun, Nio, Shintaro, Murai, Toshiya, Son, Shuraku, Kunii, Yasuto, Yabe, Hirooki, Inagaki, Masumi, Goto, Yu-ichi, Okumura, Yuto, Ito, Tomoya, Arioka, Yuko, Mori, Daisuke, Ozaki, Norio

Publikováno v: In Biological Psychiatry 1 September 2022 92(5):362-374

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Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.

Autor: Imai, Takeshi, Mitsuhashi, Satomi, Isahaya, Kenji, Shibata, Soichiro, Kawai, Yosuke, Omae, Yosuke, Tokunaga, Katsushi, Ishibashi-Ueda, Hatsue, Tomita, Tsutomu, Noguchi, Michio, Takahashi, Ayako, Goto, Yu-ichi, Yoshida, Sumiko, Hattori, Kotaro, Matsumura, Ryo, Iida, Aritoshi, Maruoka, Yutaka, Gatanaga, Hiroyuki, Shimomura, Akihiko, Sugiyama, Masaya

Publikováno v: Human Genome Variation; 8/29/2024, Vol. 11 Issue 1, p1-4, 4p