Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Takahiro Yonekawa"'
Autor:
Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, Yoshiyuki Takahashi
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of
Externí odkaz:
https://doaj.org/article/74fa295534ea4b28abbb48acc9d5d11c
Autor:
Michio Inoue, Yoshihiko Saito, Takahiro Yonekawa, Megumu Ogawa, Aritoshi Iida, Ichizo Nishino, Satoru Noguchi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Abstract Background Collagen VI-related dystrophy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by causative variants in COL6A1, COL6A2, or COL6A3. Most reported causat
Externí odkaz:
https://doaj.org/article/6cd731b60cf04dc1bd0ec25cfc1495ca
Autor:
Daniel Beltrán, Mary E. Anderson, Narendra Bharathy, Teagan P. Settelmeyer, Matthew N. Svalina, Zia Bajwa, John F. Shern, Sakir H. Gultekin, Marco A. Cuellar, Takahiro Yonekawa, Charles Keller, Kevin P. Campbell
Publikováno v:
Skeletal Muscle, Vol 9, Iss 1, Pp 1-10 (2019)
Abstract Background α-Dystroglycan is the highly glycosylated component of the dystrophin-glycoprotein complex (DGC) that binds with high-affinity to extracellular matrix (ECM) proteins containing laminin-G-like (LG) domains via a unique heteropolys
Externí odkaz:
https://doaj.org/article/7072103e912f4551afb57f3116e9e911
Autor:
Ameya S Walimbe, Hidehiko Okuma, Soumya Joseph, Tiandi Yang, Takahiro Yonekawa, Jeffrey M Hord, David Venzke, Mary E Anderson, Silvia Torelli, Adnan Manzur, Megan Devereaux, Marco Cuellar, Sally Prouty, Saul Ocampo Landa, Liping Yu, Junyu Xiao, Jack E Dixon, Francesco Muntoni, Kevin P Campbell
Publikováno v:
eLife, Vol 9 (2020)
Matriglycan [-GlcA-β1,3-Xyl-α1,3-]n serves as a scaffold in many tissues for extracellular matrix proteins containing laminin-G domains including laminin, agrin, and perlecan. Like-acetyl-glucosaminyltransferase 1 (LARGE1) synthesizes and extends m
Externí odkaz:
https://doaj.org/article/17d3f0ccf58a40a8a791f30363198f9e
Autor:
Shimpei Baba, Tohru Okanishi, Toshiki Nozaki, Naoki Ichikawa, Kazuki Sakakura, Mitsuyo Nishimura, Takahiro Yonekawa, Hideo Enoki, Ayataka Fujimoto
Publikováno v:
Brain Sciences, Vol 11, Iss 7, p 827 (2021)
Neonatal thalamic hemorrhage is a strong risk factor for developing encephalopathy with continuous spikes and waves during sleep (ECSWS), even when not accompanied by widespread cortical destruction. The efficacy and indication of resective epilepsy
Externí odkaz:
https://doaj.org/article/33ec134d86804f7c8c90495a29d6cf47
Autor:
Adam J. Rauckhorst, Mary E. Anderson, Alvin D. Pewa, Sara El-Hattab, Eric B. Taylor, Hidehiko Okuma, David Venzke, Takahiro Yonekawa, Marco Cuellar, Kevin P. Campbell
Publikováno v:
Science Advances. 8
Muscular dystrophy is a progressive and ultimately lethal neuromuscular disease due to lack of therapeutic options that restore muscle function. Gene editing and gene transfer hold great promise as therapies for various neuromuscular diseases when ad
Autor:
Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu-Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Cinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(12)
Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypo
Autor:
Yuhki Koike, Yoshiko Murakami, Keiichi Uchida, Yoshihide Mitani, Takahiro Ito, Hirofumi Sawada, Mikihiro Inoue, Taroh Kinoshita, Noriko Yodoya, Taro Okuda, Kohei Matsushita, Hiroyuki Ohashi, Shotaro Iwamoto, Takahiro Yonekawa, Masahiro Hirayama
Publikováno v:
American Journal of Medical Genetics Part A. 185:845-849
Autor:
Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, Yoshiyuki Takahashi
Publikováno v:
Scientific reports. 12(1)
Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of the Init
Autor:
Megumu Ogawa, Ichizo Nishino, Satoru Noguchi, Michio Inoue, Yoshihiko Saito, Aritoshi Iida, Takahiro Yonekawa
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Background Collagen VI-related dystrophy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by causative variants in COL6A1, COL6A2, or COL6A3. Most reported causative varia