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收藏Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans
Chauvin, Samuel D.; Ando, Shoichiro; Holley, Joe A.; Sugie, Atsushi; Zhao, Fang R.; Poddar, Subhajit; Kato, Rei; Miner, Cathrine A.; Nitta, Yohei; Krishnamurthy, Siddharth R.; Saito, Rie; Ning, Yue; Hatano, Yuya; Kitahara, Sho; Koide, Shin; Stinson, W. Alexander; Fu, Jiayuan; Surve, Nehalee; Kumble, Lindsay; Qian, Wei; Polishchuk, Oleksiy; Andhey, Prabhakar S.; Chiang, Cindy; Liu, Guanqun; Colombeau, Ludovic; Rodriguez, Raphael; Manel, Nicolas; Kakita, Akiyoshi; Artyomov, Maxim N.; Schultz, David C.; Coates, P. Toby; Roberson, Elisha D. O.; Belkaid, Yasmine; Greenberg, Roger A.; Cherry, Sara; Gack, Michaela U.; Hardy, Tristan; Onodera, Osamu; Kato, Taisuke; Miner, Jonathan J.
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收藏A novel NONO variant that causes developmental delay and cardiac phenotypes ( jan, 2023, 10.1038/s41598-023-27770-6,)
Itai, Toshiyuki; Sugie, Atsushi; Nitta, Yohei; Maki, Ryuto; Suzuki, Takashi; Shinkai, Yoichi; Watanabe, Yoshihiro; Nakano, Yusuke; Ichikawa, Kazushi; Okamoto, Nobuhiko; Utsuno, Yasuhiro; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohei; Uchiyama, Yuri; Tsuchida, Naomi; Miyake, Noriko; Misawa, Kazuharu; Mizuguchi, Takeshi; Miyatake, Satoko; Matsumoto, Naomichi
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收藏A novel NONO variant that causes developmental delay and cardiac phenotypes
Itai, Toshiyuki; Sugie, Atsushi; Nitta, Yohei; Maki, Ryuto; Suzuki, Takashi; Shinkai, Yoichi; Watanabe, Yoshihiro; Nakano, Yusuke; Ichikawa, Kazushi; Okamoto, Nobuhiko; Utsuno, Yasuhiro; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohei; Uchiyama, Yuri; Tsuchida, Naomi; Miyake, Noriko; Misawa, Kazuharu; Mizuguchi, Takeshi; Miyatake, Satoko; Matsumoto, Naomichi
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收藏Direct evaluation of neuroaxonal degeneration with the causative genes of neurodegenerative diseases in Drosophila using the automated axon quantification system, MeDUsA
Nitta, Yohei; Kawai, Hiroki; Maki, Ryuto; Osaka, Jiro; Hakeda-Suzuki, Satoko; Nagai, Yoshitaka; Doubkova, Karolina; Uehara, Tomoko; Watanabe, Kenji; Kosaki, Kenjiro; Suzuki, Takashi; Tavosanis, Gaia; Sugie, Atsushi
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收藏De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality
Sakamoto, Masamune; Sasaki, Kazunori; Sugie, Atsushi; Nitta, Yohei; Kimura, Tetsuaki; Gursoy, Semra; Cinleti, Tayfun; Iai, Mizue; Sengoku, Toru; Ogata, Kazuhiro; Suzuki, Atsushi; Okamoto, Nobuhiko; Iwama, Kazuhiro; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohei; Miyatake, Satoko; Mizuguchi, Takeshi; Taguri, Masataka; Ito, Shuuichi; Takahashi, Hidehisa; Miyake, Noriko; Matsumoto, Naomichi
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