Zobrazeno 1 - 10
of 398
pro vyhledávání: '"Mitsuhiro, Kato"'
Autor:
Kazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, Shinobu Fukumura, Keitaro Yamada, Ikumi Hori, Kenji Shimizu, Sachiko Miyamoto, Kaori Yamoto, Takuya Hiraide, Kazuki Watanabe, Shintaro Aoki, Shogo Furukawa, Taiju Hayashi, Masaharu Isogai, Takuma Harasaki, Mitsuko Nakashima, Hirotomo Saitsu
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Variant annotations are crucial for efficient identification of pathogenic variants. In this study, we retrospectively analyzed the utility of four annotation tools (allele frequency, ClinVar, SpliceAI, and Phenomatcher) in identifying 271 p
Externí odkaz:
https://doaj.org/article/20d642f57d7841aeb22a94d0268d9ad2
Autor:
Daisuke Watanabe, Nobuhiko Okamoto, Yuichi Kobayashi, Hisato Suzuki, Mitsuhiro Kato, Shinji Saitoh, Yonehiro Kanemura, Toshiki Takenouchi, Mamiko Yamada, Daisuke Nakato, Masayuki Sato, Tatsuhiko Tsunoda, Kenjiro Kosaki, Fuyuki Miya
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC8 or ERCC6. Most pathogenic variants in ERCC8 are single nucleotide substitutions. Structural variants (SVs) have been reported in patients with ERCC8-r
Externí odkaz:
https://doaj.org/article/7b39d56800b6443c911a4141bad876ea
Autor:
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Johanna C. Herkert, Ron Hochstenbach, Saskia Hopman, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Publikováno v:
HGG Advances, Vol 6, Iss 1, Pp 100380- (2025)
Summary: Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. It is caused by C
Externí odkaz:
https://doaj.org/article/4d2c1e6771da43cd9a0c73ae48b1b4d3
Autor:
Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract HCN1 is one of four genes encoding hyperpolarization-activated cyclic nucleotide-gated channels. The phenotypic spectrum associated with HCN1 variants ranges from neonatal developmental and epileptic encephalopathy to idiopathic generalized
Externí odkaz:
https://doaj.org/article/8c9ba6e51dcb45b48775cdd7c561dd8e
Autor:
Kaoru Yamamoto, Shimpei Baba, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Masaki Iwasaki, Atsushi Fujita, Hiromi Fukuda, Takeshi Mizuguchi, Mitsuhiro Kato, Naomichi Matsumoto, Masayuki Sasaki
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 651-658 (2023)
Abstract Suppression‐burst (SB) is an electroencephalographic pattern observed in neonatal‐ and infantile‐onset developmental and epileptic encephalopathies (DEEs), which are associated with high mortality in early life. However, the relation o
Externí odkaz:
https://doaj.org/article/4bf0572bd2794c6e8eaab7b80c54c0bf
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:
Yuri Yoh, Tadashi Shiohama, Tomoko Uchida, Ryota Ebata, Hironobu Kobayashi, Kentaro Okunushi, Mitsuhiro Kato, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Hiromichi Hamada
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Megalencephaly-capillary malformation syndrome (MCAP, OMIM # 602501) is caused by hyperactivity of the thephosphoinositide-3-kinase (PI3K)–Vakt murine thymoma viral oncogene homolog (AKT)–mammalian target of rapamycin (mTOR) pathway, which result
Externí odkaz:
https://doaj.org/article/76d7c2d39b6c49a0b670eaf6c4b45ba8
Autor:
Taku Miyagawa, Susumu Tanaka, Mihoko Shimada, Noriaki Sakai, Kotomi Tanida, Nozomu Kotorii, Tatayu Kotorii, Yu Ariyoshi, Yuji Hashizume, Kimihiro Ogi, Hiroshi Hiejima, Takashi Kanbayashi, Aya Imanishi, Azusa Ikegami, Yuichi Kamei, Akiko Hida, Yamato Wada, Masayuki Miyamoto, Masanori Takami, Hideaki Kondo, Yoshiyuki Tamura, Yukari Taniyama, Naoto Omata, Tomoyuki Mizuno, Shunpei Moriya, Hirokazu Furuya, Mitsuhiro Kato, Kayoko Kato, Jun Ishigooka, Kazuhito Tsuruta, Shigeru Chiba, Naoto Yamada, Masako Okawa, Koichi Hirata, Kenji Kuroda, Kazuhiko Kume, Naohisa Uchimura, Masaaki Kitada, Tohru Kodama, Yuichi Inoue, Seiji Nishino, Kazuo Mishima, Katsushi Tokunaga, Makoto Honda
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract Idiopathic hypersomnia (IH) is a rare, heterogeneous sleep disorder characterized by excessive daytime sleepiness. In contrast to narcolepsy type 1, which is a well-defined type of central disorders of hypersomnolence, the etiology of IH is
Externí odkaz:
https://doaj.org/article/d07ab5f0adcd4703970a8ce887df5b95
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:
Mitsuhiro Kato, Akiko Kada, Hideaki Shiraishi, Jun Tohyama, Eiji Nakagawa, Yukitoshi Takahashi, Tomoyuki Akiyama, Akiyoshi Kakita, Noriko Miyake, Atsushi Fujita, Akiko M. Saito, Yushi Inoue
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 2, Pp 181-192 (2022)
Abstract Objective To determine whether sirolimus, a mechanistic target of rapamycin (mTOR) inhibitor, reduces epileptic seizures associated with focal cortical dysplasia (FCD) type II. Methods Sixteen patients (aged 6–57 years) with FCD type II re
Externí odkaz:
https://doaj.org/article/a7c477d618ac4207af722c64a7c41046