Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Naomi, Tsuchida"'
Autor:
Kei-ichiro Inamori, Katsuya Nakamura, Fumi Shishido, Jia-Chen Hsu, Masakazu Nagafuku, Takahiro Nitta, Junji Ikeda, Hidekane Yoshimura, Minori Kodaira, Naomi Tsuchida, Naomichi Matsumoto, Satoshi Uemura, Shiho Ohno, Noriyoshi Manabe, Yoshiki Yamaguchi, Akira Togayachi, Kiyoko F. Aoki-Kinoshita, Shoko Nishihara, Jun-ichi Furukawa, Tadashi Kaname, Masahiko Nakamura, Takayoshi Shimohata, Shu Tadaka, Matsuyuki Shirota, Kengo Kinoshita, Yutaka Nakamura, Isao Ohno, Yoshiki Sekijima, Jin-ichi Inokuchi
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurological disorders that are characterized by progressive spasticity and weakness in the lower limbs. SPG26 is a complicated form of HSP, which includes not only weakness in the lower
Externí odkaz:
https://doaj.org/article/71c917f9d2d54bdf92d9ba2611dfc30c
Autor:
Jun Kido, Kimiyasu Egami, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who pre
Externí odkaz:
https://doaj.org/article/4eb6a964b9ee481f820ff003b401aa8b
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:
Chiharu Hidekawa, Ryusuke Yoshimi, Yusuke Saigusa, Jun Tamura, Noriko Kojitani, Naoki Suzuki, Natsuki Sakurai, Yuji Yoshioka, Yumiko Sugiyama-Kawahara, Yosuke Kunishita, Daiga Kishimoto, Kana Higashitani, Yuichiro Sato, Takaaki Komiya, Hideto Nagai, Naoki Hamada, Ayaka Maeda, Naomi Tsuchida, Lisa Hirahara, Yutaro Soejima, Kaoru Takase-Minegishi, Yohei Kirino, Nobuyuki Yajima, Ken-ei Sada, Yoshia Miyawaki, Kunihiro Ichinose, Shigeru Ohno, Hiroshi Kajiyama, Shuzo Sato, Yasuhiro Shimojima, Michio Fujiwara, Hideaki Nakajima
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
ObjectivesInfection is a leading cause of death in patients with systemic lupus erythematosus (SLE). Alt hough hydroxychloroquine (HCQ) has been reported to inhibit infection, evidence from Asian populations remains insufficient. We investigated this
Externí odkaz:
https://doaj.org/article/250d87a98654495f8ee627fe93606299
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:
Naohiro Yamamoto, Masataka Fukuoka, Ichiro Kuki, Naomi Tsuchida, Naomichi Matsumoto, Shin Okazaki
Publikováno v:
Brain Disorders, Vol 8, Iss , Pp 100056- (2022)
Background: The number of reports on GRIN1 variants associated with neurodevelopmental phenotypes has increased in recent years. However, there are only two detailed reports on electroencephalography findings. Case study: We had a case with severe gl
Externí odkaz:
https://doaj.org/article/e3916e202537419f9f478dffdc3a3acd
Autor:
Haruki Matsumoto, Yuya Fujita, Masahiko Fukatsu, Takayuki Ikezoe, Kohei Yokose, Tomoyuki Asano, Naomi Tsuchida, Ayaka Maeda, Shuhei Yoshida, Honami Hashimoto, Jumpei Temmoku, Naoki Matsuoka, Makiko Yashiro-Furuya, Shuzo Sato, Mai Murakami, Hidenori Sato, Chiharu Sakuma, Kazumasa Kawashima, Norshalena Shakespear, Yuri Uchiyama, Hiroshi Watanabe, Yohei Kirino, Naomichi Matsumoto, Kiyoshi Migita
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an inflammatory disorder caused by somatic UBA1 variants, which are sometimes associated with hematological disorders, including myelodysplastic syndrome (MDS). VEXAS syndro
Externí odkaz:
https://doaj.org/article/15ad25200ddd42caba1dc7f8ef5088a2