Zobrazeno 1 - 10
of 96
pro vyhledávání: '"MASAKI MIURA"'
Autor:
Moemi Hojo, Noriko Soma, Kei Yamada, Yu Kobayashi, Masaki Miura, Hitomi Fujii, Hiromi Nyuzuki, Yosuke Nishio, Taichi Oso, Tomoo Ogi, Takeshi Ikeuchi, Jun Tohyama
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract Bryant-Li-Bhoj syndrome (BLBS; OMIM # 619720, 619721), caused by germline H3F3A and H3F3B variants encoding histone H3.3, is characterized by mild to severe developmental delay, intellectual disability, failure to thrive, muscle tone abnorma
Externí odkaz:
https://doaj.org/article/752d6bc6326f40618290f8fd314d8838
Autor:
Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract HCN1 is one of four genes encoding hyperpolarization-activated cyclic nucleotide-gated channels. The phenotypic spectrum associated with HCN1 variants ranges from neonatal developmental and epileptic encephalopathy to idiopathic generalized
Externí odkaz:
https://doaj.org/article/8c9ba6e51dcb45b48775cdd7c561dd8e
Autor:
Yuka Wakabayashi, Takeshi Miyatsuka, Masaki Miura, Miwa Himuro, Tomomi Taguchi, Hitoshi Iida, Yuya Nishida, Yoshio Fujitani, Hirotaka Watada
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract As diabetes results from the absolute or relative deficiency of insulin secretion from pancreatic β cells, possible methods to efficiently generate surrogate β cells have attracted a lot of efforts. To date, insulin-producing cells have be
Externí odkaz:
https://doaj.org/article/a7987e1429aa46c5a4535e26e4dfe912
Autor:
Masaki Miura, Takeshi Miyatsuka, Takehiro Katahira, Shugo Sasaki, Luka Suzuki, Miwa Himuro, Yuya Nishida, Yoshio Fujitani, Taka-aki Matsuoka, Hirotaka Watada
Publikováno v:
EBioMedicine, Vol 36, Iss , Pp 358-366 (2018)
Background: STAT3 has been demonstrated to play a role in maintaining cellular identities in the pancreas, whereas an activating STAT3 mutation has been linked to impaired β-cell function. Methods: The role of STAT3 in β-cell neogenesis, induced by
Externí odkaz:
https://doaj.org/article/20f5850a175b4d869092d621298cd32c
Publikováno v:
2023 International Conference on Electronics Packaging (ICEP).
Autor:
Luka Suzuki, Takeshi Miyatsuka, Miwa Himuro, Yuka Wakabayashi, Sho Osonoi, Masaki Miura, Takehiro Katahira, Yoshio Fujitani, Hitoshi Iida, Hiroki Mizukami, Yuya Nishida, Hirotaka Watada
Publikováno v:
Biochemical and Biophysical Research Communications. 611:38-45
Autophagy is known to play a pivotal role in β-cell function. While the lifelong inhibition of autophagy through Atg7 deletion in β cells has been demonstrated to lead to impaired glucose tolerance together with β-cell dysfunction, the temporal as
Publikováno v:
Cureus.
Surface modification of a polymer film for electronic packaging using vacuum ultraviolet irradiation
Publikováno v:
2022 International Conference on Electronics Packaging (ICEP).
Autor:
Masaki Miura, Akihiko Ishiyama, Hiromi Aoi, Akane Kondo, Fumiaki Tanaka, Hiroshi Handa, Yayoi Miyazono, Yuki Hyodo, Yukimi Oyoshi, Satoko Miyatake, Hitoshi Osaka, Naomichi Matsumoto, Kazuhiro Iwama, Lock-Hock Ngu, Tomohide Goto, Long Guo, Noriko Miyake, Naomi Tsuchida, Toshifumi Suzuki, Koichi Tanda, Eriko Koshimizu, Chong Ae Kim, Rachel Sayuri Honjo, Kohei Hamanaka, Tomohiro Sakaguchi, Muzhirah Haniffa, Sachiko Ohori, Yoko Hiraki, Hiromi Fukuda, Shin-ichiro Hamano, Mitsuhiro Kato, Ming Lei, Osamu Kawano, Atsushi Fujita, Ch'ng Gaik Siew, Takeshi Mizuguchi, Toshiyuki Itai, Futoshi Sekiguchi, Yuri Uchiyama, Tohru Okanishi, Takayoshi Koike, Débora Romeo Bertola, Eri Takeshita, Nobuhiko Okamoto, Kazuhiro Haginoya, Masahide Goto, Daisuke Yamaguchi, Hiroshi Matsumoto, Ken Saida, Nozomi Hiraishi, Manami Akasaka, Yoshihiro Maegaki, Shiro Ikegawa, Hiroshi Doi, Masamune Sakamoto, Tetsuya Okazaki, Yoshiyuki Ogawa, Atsushi Takata, Satoru Ikemoto, Yukitoshi Takahashi, Hiroyuki Yamada, Yoshiteru Azuma, Atsuro Daida, Keng Wee Teik
Publikováno v:
Human Mutation. 42:50-65
Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity and specificity, reproducibility, and precision. However, operational optimization of such algorithms for a
Autor:
Akihiko Ishiyama, Ken Inoue, Eiji Nakagawa, Masayuki Sasaki, Yuichi Goto, Kenji Kurosawa, Masaki Miura
Publikováno v:
Brain and Development. 42:581-586
Background Deletion of 13q13.3 is an extremely rare event. Case We report on a 25-month-old girl with neurodevelopmental disorder and intellectual disability. She had dysmorphic facies characterized by synophrys, long and narrow palpebral fissures; a