Zobrazeno 1 - 10
of 150
pro vyhledávání: '"Tsuyoshi, Matsumura"'
Autor:
Kazuki Yoshizumi, Masamitsu Nishi, Masataka Igeta, Masayuki Nakamori, Kimiko Inoue, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Takashi Kimura
Publikováno v:
Neuroscience Research, Vol 200, Iss , Pp 48-56 (2024)
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by the genomic expansion of CTG repeats, in which RNA-binding proteins, such as muscleblind-like protein, are sequestered in the nucleus, and abnormal splicing is observed in various
Externí odkaz:
https://doaj.org/article/ae9860399a414220ab07c9da60f46227
Autor:
Akinori Nakamura, Tsuyoshi Matsumura, Katsuhisa Ogata, Madoka Mori‐Yoshimura, Eri Takeshita, Koichi Kimura, Takahiro Kawashima, Yui Tomo, Hajime Arahata, Daigo Miyazaki, Yasuhiro Takeshima, Toshiaki Takahashi, Keiko Ishigaki, Satoshi Kuru, Akiko Wakisaka, Hiroyuki Awano, Michinori Funato, Tatsuharu Sato, Yoshiaki Saito, Hiroto Takada, Kazuma Sugie, Michio Kobayashi, Shiro Ozasa, Tatsuya Fujii, Yoshihiro Maegaki, Hideki Oi, Hisateru Tachimori, Hirofumi Komaki
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 12, Pp 2360-2372 (2023)
Abstract Objective Becker muscular dystrophy (BMD) is a milder variant of Duchenne muscular dystrophy (DMD), a lethal X‐linked muscular disorder. Here, we aim to investigat the clinical involvement of skeletal, respiratory, cardiac, and central ner
Externí odkaz:
https://doaj.org/article/a987e5299b4d4ea4ad7e57127afced9b
Autor:
Masayuki Nakamori, Daisaku Nakatani, Tomoharu Sato, Yuhei Hasuike, Seiko Kon, Toshio Saito, Harumasa Nakamura, Masanori P. Takahashi, Eisuke Hida, Hirofumi Komaki, Tsuyoshi Matsumura, Hiroto Takada, Hideki Mochizuki
Publikováno v:
EClinicalMedicine, Vol 67, Iss , Pp 102390- (2024)
Summary: Background: Myotonic dystrophy type 1 (DM1) is a devastating multisystemic disorder caused by a CTG repeat expansion in the DMPK gene, which subsequently triggers toxic RNA expression and dysregulated splicing. In a preclinical study, we dem
Externí odkaz:
https://doaj.org/article/d6af5d1bdefa4730840dadd1db1d87fc
Autor:
Yosuke Hiramuki, Yuriko Kure, Yoshihiko Saito, Megumu Ogawa, Keiko Ishikawa, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Dae-Seong Kim, Noriko Arai, Chiaki Mori, Tsuyoshi Matsumura, Tadanori Hamano, Kenichiro Nakamura, Koji Ikezoe, Shinichiro Hayashi, Yuichi Goto, Satoru Noguchi, Ichizo Nishino
Publikováno v:
Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-12 (2022)
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by asymmetric muscle wasting and weakness. FSHD can be subdivided into two types: FSHD1, caused by contraction of the D4Z4 repe
Externí odkaz:
https://doaj.org/article/232b7b90ca3f41728eb543822e9d6aba
Autor:
Tsuyoshi Matsumura, Hiroya Hashimoto, Masahiro Sekimizu, Akiko M. Saito, Yasufumi Motoyoshi, Akinori Nakamura, Satoshi Kuru, Takayasu Fukudome, Kazuhiko Segawa, Toshiaki Takahashi, Takuhisa Tamura, Tetsuo Komori, Chigusa Watanabe, Masanori Asakura, Koichi Kimura, Yuko Iwata
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background The transient receptor potential cation channel subfamily V member 2 (TRPV2) is a stretch-sensitive calcium channel. TRPV2 overexpression in the sarcolemma of skeletal and cardiac myocytes causes calcium influx into the cytoplasm,
Externí odkaz:
https://doaj.org/article/021cbb3148404b8885920ee9d34c592a
Autor:
Haruo Fujino, Toshio Saito, Masanori P. Takahashi, Hiroto Takada, Takahiro Nakayama, Osamu Imura, Tsuyoshi Matsumura
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-7 (2022)
Abstract Background Although functional impairment in patients with myotonic dystrophy is an important determinant of the quality of life (QoL), patients’ subjective evaluation of their symptoms may also affect their QoL. The aim of this study was
Externí odkaz:
https://doaj.org/article/367b90097d8f485297d09e2776e1daf3
Autor:
Hirofumi Komaki, Yoshihiro Maegaki, Tsuyoshi Matsumura, Kazuhiro Shiraishi, Hiroyuki Awano, Akinori Nakamura, Satoru Kinoshita, Katsuhisa Ogata, Keiko Ishigaki, Shinji Saitoh, Michinori Funato, Satoshi Kuru, Takahiro Nakayama, Yasuyuki Iwata, Hiroyuki Yajima, Shin’ichi Takeda
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 2, Pp 181-190 (2020)
Abstract Objective Duchenne muscular dystrophy (DMD) is a progressive muscular disease characterized by chronic cycles of inflammatory and necrotic processes. Prostaglandin D2 (PGD2) is produced by hematopoietic PGD synthase (HPGDS), which is patholo
Externí odkaz:
https://doaj.org/article/001a1b84c3124cd5bcf321aa65fa9301
Autor:
Haruo Fujino PhD, Tsuyoshi Matsumura MD, PhD, Toshio Saito MD, PhD, Harutoshi Fujimura MD, PhD, Osamu Imura PhD
Publikováno v:
Journal of Patient Experience, Vol 7 (2020)
Healthcare professionals involved in the treatment and care of patients with intractable diseases, such as muscular dystrophy, increasingly encounter situations that can elicit emotional distress for them as well as the patients. Therefore, medical p
Externí odkaz:
https://doaj.org/article/78bd3591545546c1a4d2c5fb5b61c194
Autor:
Masamitsu Nishi, Takashi Kimura, Masataka Igeta, Mitsuru Furuta, Koichi Suenaga, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Hiroo Yoshikawa
Publikováno v:
PLoS ONE, Vol 15, Iss 5, p e0224912 (2020)
Myotonic dystrophy type 1 (DM1) is a multi-system disorder caused by CTG repeats in the myotonic dystrophy protein kinase (DMPK) gene. This leads to the sequestration of splicing factors such as muscleblind-like 1/2 (MBNL1/2) and aberrant splicing in
Externí odkaz:
https://doaj.org/article/c98b491d4ea54393876de2a20c49f91e
Caregiver Burden with Duchenne and Becker Muscular Dystrophy in Japan: A Clinical Observation Study.
Autor:
Masatoshi Ishizaki, Michio Kobayashi, Hiroya Hashimoto, Akinori Nakamura, Yasushi Maeda, Hidetsugu Ueyama, Tsuyoshi Matsumura
Publikováno v:
Internal Medicine; 2024, Vol. 63 Issue 3, p365-372, 8p