Zobrazeno 1 - 10
of 100
pro vyhledávání: '"Kohei Hamanaka"'
Autor:
Rie Tsuburaya-Suzuki, Sachiko Ohori, Kohei Hamanaka, Atsushi Fujita, Naomichi Matsumoto, Masako Kinoshita
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Cardiofaciocutaneous syndrome (CFC) is a rare genetic disorder that presents with cardiac, craniofacial, and cutaneous symptoms, and is often accompanied by neurological abnormalities, including neurodevelopmental disorders and epilepsy. Regarding ep
Externí odkaz:
https://doaj.org/article/7ee32f2855f04425ad05a13adade4356
Autor:
Rie Seyama, Masashi Nishikawa, Yuri Uchiyama, Keisuke Hamada, Yuka Yamamoto, Masahiro Takeda, Takanori Ochi, Monami Kishi, Toshifumi Suzuki, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Takashi Yao, Hidenori Ito, Atsuo Itakura, Kazuhiro Ogata, Koh-ichi Nagata, Naomichi Matsumoto
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract RAC1 at 7p22.1 encodes a RAC family small GTPase that regulates actin cytoskeleton organization and intracellular signaling pathways. Pathogenic RAC1 variants result in developmental delay and multiple anomalies. Here, exome sequencing ident
Externí odkaz:
https://doaj.org/article/94a3131121604b75b7d26b0fca9cac45
Autor:
Atsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, Yasushi Iimura, Hiroharu Suzuki, Jun Tohyama, Masafumi Fukuda, Yosuke Ito, Shimpei Baba, Tohru Okanishi, Hideo Enoki, Ayataka Fujimoto, Akiyo Yamamoto, Kentaro Kawamura, Shinsuke Kato, Ryoko Honda, Tomonori Ono, Hideaki Shiraishi, Kiyoshi Egawa, Kentaro Shirai, Shinji Yamamoto, Itaru Hayakawa, Hisashi Kawawaki, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Akiyoshi Kakita, Naomichi Matsumoto
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
Abstract Focal cortical dysplasia is the most common malformation during cortical development, sometimes excised by epilepsy surgery and often caused by somatic variants of the mTOR pathway genes. In this study, we performed a genetic analysis of epi
Externí odkaz:
https://doaj.org/article/6d39077dbc52426b8b9d6e2a39958a82
Autor:
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract The Drosophila behavior/human splicing protein family is involved in numerous steps of gene regulation. In humans, this family consists of three proteins: SFPQ, PSPC1, and NONO. Hemizygous loss-of-function (LoF) variants in NONO cause a deve
Externí odkaz:
https://doaj.org/article/5f0d682f4c2d4892ad0ade18f7ec2c5c
Autor:
Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, Masaki Okubo, Taishi Wada, Kohei Hamanaka, Naohisa Ueda, Hitaru Kishida, Gaku Minase, Atsuhiro Matsuno, Minori Kodaira, Katsuhisa Ogata, Rumiko Kato, Atsuhiko Sugiyama, Ayako Sasaki, Takabumi Miyama, Mai Satoh, Yuri Uchiyama, Naomi Tsuchida, Haruka Hamanoue, Kazuharu Misawa, Kiyoshi Hayasaka, Yoshiki Sekijima, Hiroaki Adachi, Kunihiro Yoshida, Fumiaki Tanaka, Takeshi Mizuguchi, Naomichi Matsumoto
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-15 (2022)
Abstract We developed a diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available, low throughput diagnostic methods. We employed the real-time target enrichment system of the nanopore GridION sequence
Externí odkaz:
https://doaj.org/article/5c4b0d3d0ea14f9fa7378606182803e5
Autor:
Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Futoshi Sekiguchi, Satomi Mitsuhashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kohei Yamada, Masamune Sakamoto, Hiromi Fukuda, Sachiko Ohori, Ken Saida, Toshiyuki Itai, Yoshiteru Azuma, Eriko Koshimizu, Atsushi Fujita, Biray Erturk, Yoko Hiraki, Gaik-Siew Ch’ng, Mitsuhiro Kato, Nobuhiko Okamoto, Atsushi Takata, Naomichi Matsumoto
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)
Abstract Background Previous large-scale studies of de novo variants identified a number of genes associated with neurodevelopmental disorders (NDDs); however, it was also predicted that many NDD-associated genes await discovery. Such genes can be di
Externí odkaz:
https://doaj.org/article/212f0ca078af48c5b6f2a1dc43fa5a9d
Autor:
Kana Kitayama, Tomoya Ishiguro, Masaki Komiyama, Takayuki Morisaki, Hiroko Morisaki, Gaku Minase, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masaru Kato, Toru Takahashi, Tohru Yorifuji
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited vascular disorder characterized by recurrent epistaxis, skin/mucocutaneous telangiectasia, and organ/visceral arteriovenous malformations (AVM). HHT is mostly c
Externí odkaz:
https://doaj.org/article/bfec0ba19882459295a902b5d8841a68
Autor:
Masaki Nishioka, An-a Kazuno, Takumi Nakamura, Naomi Sakai, Takashi Hayama, Kumiko Fujii, Koji Matsuo, Atsuko Komori, Mizuho Ishiwata, Yoshinori Watanabe, Takashi Oka, Nana Matoba, Muneko Kataoka, Ahmed N. Alkanaq, Kohei Hamanaka, Takashi Tsuboi, Toru Sengoku, Kazuhiro Ogata, Nakao Iwata, Masashi Ikeda, Naomichi Matsumoto, Tadafumi Kato, Atsushi Takata
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
The significance of rare and de novo variants in bipolar disorder is not well understood. Here, the authors have analyzed whole exome/genome data from trios to identify deleterious de novo variants associated with bipolar disorder.
Externí odkaz:
https://doaj.org/article/b566dcdf10494a0cb75a52d15029cc4f
Autor:
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/00d5b56809514356b2e67bc588e95ba7
Autor:
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohor
Externí odkaz:
https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817