Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Ryusuke Matsumura"'
Autor:
Hiroya Inoue, Makito Hirano, Susumu Kusunoki, Hikaru Sakamoto, Yusaku Nakamura, Ryusuke Matsumura, Shuichi Ueno, Kazumasa Saigoh
Publikováno v:
Journal of the Neurological Sciences. 378:75-79
Introduction Early onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia 1 (AOA1) is an autosomal recessive disorder caused by mutations in the APTX gene. In contrast to the recent progress on the molecular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b151ae83927a57d7486c18f780ba795
https://doi.org/10.1016/j.jns.2017.04.049
https://doi.org/10.1016/j.jns.2017.04.049
Autor:
Ryosuke Takahashi, Taro Hino, Makoto Urushitani, Ryusuke Matsumura, Hidehiro Mizusawa, Kazunari Taira, Rammohan V. Rao, Takanori Yokota, Makoto Miyagishi, Tasinato Andrea, Dale E. Bredesen
Publikováno v:
Biochemical and Biophysical Research Communications. 314:283-291
In many of autosomal dominant diseases such as familial amyotrophic lateral sclerosis (ALS) with SOD1 mutation, a missense point mutation may induce the disease by its gain of adverse property. Reduction of such a mutant protein expression is expecte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b71169a7e5ffc885df46bd4921b8f74
https://doi.org/10.1016/j.bbrc.2003.12.098
https://doi.org/10.1016/j.bbrc.2003.12.098
Publikováno v:
Annals of Neurology. 56:124-129
In Machado-Joseph disease (MJD) gene, there is a C/G polymorphism immediately after the CAG repeat; the expanded CAG repeat tract is exclusively followed by C, whereas about half of wild-type alleles are followed by G. Using this C/G polymorphism, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09743107362a6a06af92436224417620
https://doi.org/10.1002/ana.20141
https://doi.org/10.1002/ana.20141
Publikováno v:
Molecular therapy, 7(5 Part 1), 623-631. Nature Publishing Group
Lentiviral vectors (LV) have the ability to integrate their proviral DNA containing a therapeutic gene into the host cell's genome. Therefore, these vectors have a great potential for gene therapy especially in the treatment of hereditary diseases li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0601291c7da8d3633e4b89fcce43ec92
https://doi.org/10.1016/s1525-0016(03)00073-x
https://doi.org/10.1016/s1525-0016(03)00073-x
Autor:
Ryusuke Matsumura
Publikováno v:
Japanese Journal of Thrombosis and Hemostasis. 11:358-363
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b19396e370df300c0b1e25ae41eed8b
https://doi.org/10.2491/jjsth.11.358
https://doi.org/10.2491/jjsth.11.358
Autor:
Yasuyo Fujimoto, Tetsuya Takayanagi, Ryusuke Matsumura, Horikawa H, Akio Suzumura, Naonobu Futamura
Publikováno v:
Acta Neurologica Scandinavica. 98:55-59
CAG repeat expansions cause spinocerebellar ataxia type 1 (SCA1), SCA2, SCA3, SCA6 and dentatorubral-pallidoluysian atrophy (DRPLA). So far these expansions have been examined mainly in ataxia patients with a family history. However, some sporadic ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6377b147ce56ddc654f9f5ec8b636a8d
https://doi.org/10.1111/j.1600-0404.1998.tb07378.x
https://doi.org/10.1111/j.1600-0404.1998.tb07378.x
Autor:
Ryusuke Matsumura, Yukio Mano, Tetsuya Takayanagi, Tadashi Namikawa, Hidehisa Yamagata, Tameko Kihira, Tetsuro Miki
Publikováno v:
Journal of the Neurological Sciences. 139:48-51
We present the first report of a Japanese family with myotonic dystrophy (DM) that showed an intergenerational contraction of the CTG repeat. The size of the expanded CTG repeats was 3.2 kb for the father and 2.2 kb for the daughter, indicating that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa297fd6dac00b8b642403b6f4085d55
https://doi.org/10.1016/0022-510x(96)00014-7
https://doi.org/10.1016/0022-510x(96)00014-7
Autor:
Takashi Miyata, Yosho Fukita, Ryusuke Matsumura, Hitoshi Nagaoka, Junji Fujikura, Makoto Haino, Shigeo Takaishi, Hidenori Hayashida, Euy Kyun Shin, Fumihiko Matsuda
Publikováno v:
Journal of Biological Chemistry. 269:2619-2626
Nucleotide sequences of 64 VH segments within the 3' 0.8-megabase region of the human immunoglobulin germ line VH locus were compared with trace evolution of human VH segments. Based on alignment of the deduced amino acid sequences of 37 functional g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2eeb069290edb630ae4ecf3897627bd
https://doi.org/10.1016/s0021-9258(17)41989-2
https://doi.org/10.1016/s0021-9258(17)41989-2
Publikováno v:
Journal of Biomedicine and Biotechnology, Vol 2009 (2009)
Journal of Biomedicine and Biotechnology
Journal of Biomedicine and Biotechnology
𝑁 -acetyl 5-aminosalicylic acid (5-AcASA) that was intracellularly formed from 5-aminosalicylic acid (5-ASA) at 200 𝜇 M was discharged 5.3, 7.1, and 8.1-fold higher into the apical site than into the basolateral site during 1, 2, and 4-hour inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02208a78fa093247256415843d7474b3
https://doaj.org/article/2833994019f64ff9bdb826bca99770e2
https://doaj.org/article/2833994019f64ff9bdb826bca99770e2
Autor:
Naonobu Futamura, Tetsuya Takayanagi, Ryusuke Matsumura, Makito Hirano, Satoshi Ueno, K Murata
Publikováno v:
Human Genetics. 98:643-645
The mutation responsible for Machado-Joseph disease (MJD) has been identified as an expansion of a CAG trinucleotide repeat in a novel gene on chromosome 14q32.1. The CAG repeat tract is followed by C or G, and alleles are thereby divided into two ty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46bb16319275ee6051cec2269abf4718
https://doi.org/10.1007/s004390050276
https://doi.org/10.1007/s004390050276