Zobrazeno 1 - 10
of 488
pro vyhledávání: '"MASAFUMI MATSUO"'
Autor:
Mamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, Ryo Kurosawa, Toshiki Takenouchi, Tomonari Awaya, Masahiko Ajiro, Atsuko Takeuchi, Hisahide Nishio, Masatoshi Hagiwara, Fuyuki Miya, Masafumi Matsuo, Kenjiro Kosaki
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Pathogenic variants in WDR45 on chromosome Xp11 cause neurodegenerative disorder beta-propeller protein-associated neurodegeneration (BPAN). Currently, there is no effective therapy for BPAN. Here we report a 17-year-old female patient with
Externí odkaz:
https://doaj.org/article/cbd243c811c94a3bae270d869c03c41a
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 14, Iss 5, Pp 2289-2300 (2023)
Abstract Background Myostatin, encoded by the MSTN gene comprising 3 exons, is a potent negative regulator of skeletal muscle growth. Although a variety of myostatin inhibitors have been invented for increasing muscle mass in muscle wasting diseases,
Externí odkaz:
https://doaj.org/article/7755f5c5cb244d4ab11e6836709b6d90
Publikováno v:
Sensors, Vol 24, Iss 18, p 5947 (2024)
Eighteen-lead electrocardiography (18-ECG) includes, in addition to those in standard 12-lead ECG (12-ECG), six additional chest leads: V7–V9 and V3RV5R. Leads V7–V9 require the patient to be in a lateral decubitus position for the electrodes to
Externí odkaz:
https://doaj.org/article/9a2e9ad43c544eb9b2637004fcff6fe3
Autor:
Yoshinori Nambu, Taku Shirakawa, Kayo Osawa, Hisahide Nishio, Kandai Nozu, Masafumi Matsuo, Hiroyuki Awano
Publikováno v:
SAGE Open Medical Case Reports, Vol 12 (2024)
Becker muscular dystrophy is caused by DMD mutations and is characterized by progressive muscle atrophy. The wide variations observed in muscle atrophy progression in Becker muscular dystrophy are considered multifactorial, including differences in m
Externí odkaz:
https://doaj.org/article/c26b9481fcfd47f79e0c23171a9f9623
Autor:
Kristy Iskandar, Sunartini Hapsara, Chun Ping Liu, Rusdy Ghazali Malueka, Ery Kus Dwianingsih, Gunadi, Masafumi Matsuo, Poh San Lai
Publikováno v:
F1000Research, Vol 11 (2023)
Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the DMD gene. The full mutation spectrum of the DMD gene in Indonesian patients is currently unknown. Mutation-specific ther
Externí odkaz:
https://doaj.org/article/5d778e3de77b4449ab4539002cc11676
Autor:
Atsuhito Takeda, Masahiro Ueki, Jiro Abe, Kazuhiro Maeta, Tomoko Horiguchi, Hirokuni Yamazawa, Gaku Izumi, Ayako Chida‐Nagai, Daisuke Sasaki, Takao Tsujioka, Itsumi Sato, Masahiro Shiraishi, Masafumi Matsuo
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)
Abstract Barth syndrome (BTHS) is an X‐linked disorder characterized by cardiomyopathy, skeletal myopathy, and 3‐methylglutaconic aciduria. The causative pathogenic variants for BTHS are in TAZ, which encodes a putative acyltransferase named tafa
Externí odkaz:
https://doaj.org/article/fdbcd61460324c7a9ce70a09275b62e3
Autor:
Taku Shirakawa, Ayumu Ikushima, Nobuhiro Maruyama, Yoshinori Nambu, Hiroyuki Awano, Kayo Osawa, Kei Nirasawa, Yoichi Negishi, Hisahide Nishio, Shoji Fukushima, Masafumi Matsuo
Publikováno v:
Animal Models and Experimental Medicine, Vol 5, Iss 1, Pp 48-55 (2022)
Abstract The mdx mouse is a model of Duchenne muscular dystrophy (DMD), a fatal progressive muscle wasting disease caused by dystrophin deficiency, and is used most widely in preclinical studies. Mice with dystrophin deficiency, however, show milder
Externí odkaz:
https://doaj.org/article/1a3fa35a3b43455dbec5e50289012b7f
Autor:
Jing Wu, Jun Zhang, Li Liu, Bo Zhang, Tomohiko Yamamura, Kandai Nozu, Masafumi Matsuo, Jinghong Zhao
Publikováno v:
BMC Nephrology, Vol 22, Iss 1, Pp 1-7 (2021)
Abstract Background Alport syndrome (AS), which is a rare hereditary disease caused by mutations of genes including COL4A3, COL4A4 and COL4A5, has a wide spectrum of phenotypes. Most disease-causing variants of AS are located in the exons or the cons
Externí odkaz:
https://doaj.org/article/e59868b416584230bfe8a3f1f70e8be4
Autor:
Kentaro Ito, Hideo Takakusa, Masayo Kakuta, Akira Kanda, Nana Takagi, Hiroyuki Nagase, Nobuaki Watanabe, Daigo Asano, Ryoya Goda, Takeshi Masuda, Akifumi Nakamura, Yoshiyuki Onishi, Toshio Onoda, Makoto Koizumi, Yasuhiro Takeshima, Masafumi Matsuo, Kiyosumi Takaishi
Publikováno v:
Current Issues in Molecular Biology, Vol 43, Iss 3, Pp 1267-1281 (2021)
Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disease caused by out-of-frame or nonsense mutation in the dystrophin gene. It begins with a loss of ambulation between 9 and 14 years of age, followed by various other symptoms includ
Externí odkaz:
https://doaj.org/article/1b7c5f889f1a4ab4847f57aaebfdae57
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Dystrophin Dp71 is an isoform produced from the Dp71 promoter in intron 62 of the DMD gene, mutations in which cause Duchenne muscular dystrophy. Dp71 is involved in various cellular processes and comprises more than 10 isoforms produced by alternati
Externí odkaz:
https://doaj.org/article/98471c8481f64f29ad2dd0f4cd7a898b