Wipi3 is essential for alternative autophagy and its loss causes neurodegeneration von Yamaguchi, Hirofumi, Honda, Shinya, Torii, Satoru, Shimizu, Kimiko, Katoh, Kaoru, Miyake, Koichi, Miyake, Noriko, Fujikake, Nobuhiro, Sakurai, Hajime Tajima, Arakawa, Satoko, Shimizu, Shigeomi

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Treatment of adult metachromatic leukodystrophy model mice using intrathecal administration of type 9 AAV vector encoding arylsulfatase A von Miyake, Noriko, Miyake, Koichi, Sakai, Atsushi, Yamamoto, Motoko, Suzuki, Hidenori, Shimada, Takashi

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A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing von Mizuguchi, Takeshi, Suzuki, Takeshi, Abe, Chihiro, Umemura, Ayako, Tokunaga, Katsushi, Kawai, Yosuke, Nakamura, Minoru, Nagasaki, Masao, Kinoshita, Kengo, Okamura, Yasunobu, Miyatake, Satoko, Miyake, Noriko, Matsumoto, Naomichi

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MicroRNA cluster miR-17-92 regulates multiple functionally related voltage-gated potassium channels in chronic neuropathic pain von Sakai, Atsushi, Saitow, Fumihito, Maruyama, Motoyo, Miyake, Noriko, Miyake, Koichi, Shimada, Takashi, Okada, Takashi, Suzuki, Hidenori

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miR-7a alleviates the maintenance of neuropathic pain through regulation of neuronal excitability von SAKAI, Atsushi, SAITOW, Fumihito, MIYAKE, Noriko, MIYAKE, Koichi, SHIMADA, Takashi, SUZUKI, Hidenori

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The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome von Nakashima, Mitsuko, Miyajima, Masakazu, Sugano, Hidenori, Iimura, Yasushi, Kato, Mitsuhiro, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Arai, Hajime, Matsumoto, Naomichi

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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice von Aoto, Kazushi, Kato, Mitsuhiro, Akita, Tenpei, Nakashima, Mitsuko, Mutoh, Hiroki, Akasaka, Noriyuki, Tohyama, Jun, Nomura, Yoshiko, Hoshino, Kyoko, Ago, Yasuhiko, Tanaka, Ryuta, Epstein, Orna, Ben-Haim, Revital, Heyman, Eli, Miyazaki, Takehiro, Belal, Hazrat, Takabayashi, Shuji, Ohba, Chihiro, Takata, Atsushi, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo

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Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases von Mizuguchi, Takeshi, Toyota, Tomoko, Adachi, Hiroaki, Miyake, Noriko, Matsumoto, Naomichi, Miyatake, Satoko

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Reduction of pyrrolizidine alkaloids by cooking pre-treatment for the petioles and the young spikes of Petasites japonicus von Takenaka, Makiko, Miyake, Noriko, Kimura, Toshiyuki, Todoriki, Setsuko, Urushiyama, Tetsuo

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Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb von Nakashima, Mitsuko, Saitsu, Hirotomo, Takei, Nobuyuki, Tohyama, Jun, Kato, Mitsuhiro, Kitaura, Hiroki, Shiina, Masaaki, Shirozu, Hiroshi, Masuda, Hiroshi, Watanabe, Keisuke, Ohba, Chihiro, Tsurusaki, Yoshinori, Miyake, Noriko, Zheng, Yingjun, Sato, Tatsuhiro, Takebayashi, Hirohide, Ogata, Kazuhiro, Kameyama, Shigeki, Kakita, Akiyoshi, Matsumoto, Naomichi

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Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia von Guo, Long, Elcioglu, Nursel H, Mizumoto, Shuji, Wang, Zheng, Noyan, Bilge, Albayrak, Hatice M, Yamada, Shuhei, Matsumoto, Naomichi, Miyake, Noriko, Nishimura, Gen, Ikegawa, Shiro

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Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4 von Lei, Ming, Liang, Desheng, Yang, Yifeng, Mitsuhashi, Satomi, Katoh, Kazutaka, Miyake, Noriko, Frith, Martin C., Wu, Lingqian, Matsumoto, Naomichi

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Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients von Yamada, Kazuo, Watanabe, Atsushi, Takeshita, Haruo, Fujita, Atsushi, Miyake, Noriko, Matsumoto, Naomichi, Matsumoto, Ken-ichi

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Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation von Kurotaki, Daisuke, Osato, Naoki, Nishiyama, Akira, Yamamoto, Michio, Ban, Tatsuma, Sato, Hideaki, Nakabayashi, Jun, Umehara, Marina, Miyake, Noriko, Matsumoto, Naomichi, Nakazawa, Masatoshi, Ozato, Keiko, Tamura, Tomohiko

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Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings von Ohashi, Kei, Fukuhara, Satomi, Miyachi, Taishi, Asai, Tomoko, Imaeda, Masayuki, Goto, Masahide, Kurokawa, Yoshie, Anzai, Tatsuya, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Yamagata, Takanori, Saitoh, Shinji

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miR‐15b mediates oxaliplatin‐induced chronic neuropathic pain through BACE1 down‐regulation von Ito, Naomi, Sakai, Atsushi, Miyake, Noriko, Maruyama, Motoyo, Iwasaki, Hirotoshi, Miyake, Koichi, Okada, Takashi, Sakamoto, Atsuhiro, Suzuki, Hidenori

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The complexity of EGFR exon 19 deletion and L858R mutant cells as assessed by proteomics, transcriptomics, and metabolomics von Ochi, Nobuaki, Takeyama, Masami, Miyake, Noriko, Fuchigami, Maki, Yamane, Hiromichi, Fukazawa, Takuya, Nagasaki, Yasunari, Kawahara, Tatsuyuki, Nakanishi, Hidekazu, Takigawa, Nagio

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Human genetic variation database, a reference database of genetic variations in the Japanese population von Higasa, Koichiro, Miyake, Noriko, Yoshimura, Jun, Okamura, Kohji, Niihori, Tetsuya, Saitsu, Hirotomo, Doi, Koichiro, Shimizu, Masakazu, Nakabayashi, Kazuhiko, Aoki, Yoko, Tsurusaki, Yoshinori, Morishita, Shinichi, Kawaguchi, Takahisa, Migita, Osuke, Nakayama, Keiko, Nakashima, Mitsuko, Mitsui, Jun, Narahara, Maiko, Hayashi, Keiko, Funayama, Ryo, Yamaguchi, Daisuke, Ishiura, Hiroyuki, Ko, Wen-Ya, Hata, Kenichiro, Nagashima, Takeshi, Yamada, Ryo, Matsubara, Yoichi, Umezawa, Akihiro, Tsuji, Shoji, Matsumoto, Naomichi, Matsuda, Fumihiko

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ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome von Miyatake, Satoko, Okamoto, Nobuhiko, Stark, Zornitza, Nabetani, Makoto, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Mizuguchi, Takeshi, Ohtake, Akira, Saitsu, Hirotomo, Matsumoto, Naomichi

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Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling von Guo, Long, Iida, Aritoshi, Bhavani, Gandham SriLakshmi, Gowrishankar, Kalpana, Wang, Zheng, Xue, Jing-yi, Wang, Juan, Miyake, Noriko, Matsumoto, Naomichi, Hasegawa, Takanori, Iizuka, Yusuke, Matsuda, Masashi, Nakashima, Tomoki, Takechi, Masaki, Iseki, Sachiko, Yambe, Shinsei, Nishimura, Gen, Koseki, Haruhiko, Shukunami, Chisa, Girisha, Katta M., Ikegawa, Shiro

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