Zobrazeno 1 - 10
of 219
pro vyhledávání: '"Harutoshi, Fujimura"'
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:
Yoshiki Esa, Yuta Kajiyama, Misako Kaido, Yushi Watanabe, Harutoshi Fujimura, Iwao Gohma, Kenichi Takahashi, Junya Kobayashi
Publikováno v:
Case Reports in Neurological Medicine, Vol 2022 (2022)
April 2021 saw a widespread outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in Osaka, Japan. We encountered the case of a 52-year-old man who had Guillain–Barré syndrome associated with coronavirus disease 2019 (COVID-19).
Externí odkaz:
https://doaj.org/article/e436cb04e88442a1bdfa5ade76416bc4
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:
Chantal Sellier, Estefanía Cerro-Herreros, Markus Blatter, Fernande Freyermuth, Angeline Gaucherot, Frank Ruffenach, Partha Sarkar, Jack Puymirat, Bjarne Udd, John W. Day, Giovanni Meola, Guillaume Bassez, Harutoshi Fujimura, Masanori P. Takahashi, Benedikt Schoser, Denis Furling, Ruben Artero, Frédéric H. T. Allain, Beatriz Llamusi, Nicolas Charlet-Berguerand
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
Myotonic dystrophy (DM) type 2 is a neuromuscular pathology caused by large expansions of CCTG repeats. Here the authors find that rbFOX1 RNA binding protein binds to CCUG RNA repeats and competes with MBNL1 for the binding to CCUG repeats, releasing
Externí odkaz:
https://doaj.org/article/cc4a1e87ad4646d6a2914e7d2348f083
Autor:
Misako Kaido, Yuta Kajiyama, Shinya Sasaki, Takako Saitou, Yoshiki Esa, Yushi Watanabe, Harutoshi Fujimura, Junya Kobayashi
Publikováno v:
Rinsho Shinkeigaku. 63:145-151
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9adf54fa1ce834dfb6c6fc0bbf7b74f
https://doi.org/10.5692/clinicalneurol.cn-001825
https://doi.org/10.5692/clinicalneurol.cn-001825
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
Autor:
Machika Hamaguchi, Rieko Muramatsu, Harutoshi Fujimura, Hideki Mochizuki, Hirotoshi Kataoka, Toshihide Yamashita
Publikováno v:
eLife, Vol 8 (2019)
Oligodendrocyte maturation is necessary for functional regeneration in the CNS; however, the mechanisms by which the systemic environment regulates oligodendrocyte maturation is unclear. We found that Transforming growth factor (TGF)-β1, which is pr
Externí odkaz:
https://doaj.org/article/fbdd5b00a734439688e952960dbc481b
Publikováno v:
International Journal of Qualitative Studies on Health & Well-Being, Vol 11, Iss 0, Pp 1-8 (2016)
Patients experience extreme difficulty when facing an intractable genetic disease. Herein, we examine the experiences of patients with Duchenne muscular dystrophy in facing and learning about their disease. A total of seven patients with Duchenne mus
Externí odkaz:
https://doaj.org/article/b247d458b2634d06afbd4825f4fa60ce
Autor:
Fernande Freyermuth, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Chantal Sellier, Masayuki Nakamori, Yoshihiro Kino, Ludovic Arandel, Arnaud Jollet, Christelle Thibault, Muriel Philipps, Serge Vicaire, Bernard Jost, Bjarne Udd, John W. Day, Denis Duboc, Karim Wahbi, Tsuyoshi Matsumura, Harutoshi Fujimura, Hideki Mochizuki, François Deryckere, Takashi Kimura, Nobuyuki Nukina, Shoichi Ishiura, Vincent Lacroix, Amandine Campan-Fournier, Vincent Navratil, Emilie Chautard, Didier Auboeuf, Minoru Horie, Keiji Imoto, Kuang-Yung Lee, Maurice S. Swanson, Adolfo Lopez de Munain, Shin Inada, Hideki Itoh, Kazuo Nakazawa, Takashi Ashihara, Eric Wang, Thomas Zimmer, Denis Furling, Masanori P. Takahashi, Nicolas Charlet-Berguerand
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)
Patients with myotonic dystrophy (MD) suffer from severe cardiac issues of unknown aetiology. Freyermuth et al. show that fatal changes in cardiac electrophysiological properties in humans and mice with MD may arise from misregulation of the alternat
Externí odkaz:
https://doaj.org/article/72afc8d9128643c28fcf74d35cc00642
Autor:
Misaki Yamadera, Toshio Saito, Masakazu Shinohara, Hisahide Nishio, Shigeo Murayama, Harutoshi Fujimura
Publikováno v:
Neuropathology. 42:141-146
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e6b8d42dd6841a5b7f5179e25e80aa6f
https://doi.org/10.1111/neup.12784
https://doi.org/10.1111/neup.12784