Zobrazeno 1 - 10
of 527
pro vyhledávání: '"Yoko Aoki"'
Autor:
Rumiko Izumi, Kensuke Ikeda, Tetsuya Niihori, Naoki Suzuki, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Hitoshi Warita, Maki Tateyama, Yoko Aoki, Masashi Aoki
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 577-592 (2024)
Abstract Objective Multisystem proteinopathy type 3 (MSP3) is an inherited, pleiotropic degenerative disorder caused by a mutation in heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1), which can affect the muscle, bone, and/or nervous system. This
Externí odkaz:
https://doaj.org/article/9c37292f249446f1a8c4290b97fe408c
Autor:
Yoko Matsuzaki, Kanetsu Sugawara, Yuko Kidoguchi, Yoko Kadowaki, Yoshitaka Shimotai, Yuriko Katsushima, Fumio Katsushima, Shizuka Tanaka, Yohei Matoba, Kenichi Komabayashi, Yoko Aoki, Katsumi Mizuta
Publikováno v:
Viruses, Vol 16, Iss 6, p 983 (2024)
We identified a child coinfected with influenza B viruses of B/Yamagata and B/Victoria lineages, in whom we analyzed the occurrence of genetic reassortment. Plaque purification was performed using a throat swab specimen from a 9-year-old child, resul
Externí odkaz:
https://doaj.org/article/6e63f989cfe547d49da501f02b8508ef
Publikováno v:
Cell Death and Disease, Vol 14, Iss 8, Pp 1-11 (2023)
Abstract Leucine zipper-like transcriptional regulator 1 (LZTR1), a substrate adaptor of Cullin 3 (CUL3)-based E3 ubiquitin ligase, regulates proteostasis of the RAS subfamily. Mutations in LZTR1 have been identified in patients with several types of
Externí odkaz:
https://doaj.org/article/fc4ff836fd52453686eb361b1da64f91
Autor:
Hidekazu Shirota, Keigo Komine, Masanobu Takahashi, Shin Takahashi, Eisaku Miyauchi, Hidetaka Niizuma, Hiroshi Tada, Muneaki Shimada, Tetsuya Niihori, Yoko Aoki, Ikuko Sugiyama, Maako Kawamura, Jun Yasuda, Shuhei Suzuki, Takeshi Iwaya, Motonobu Saito, Tsuyoshi Saito, Hiroyuki Shibata, Toru Furukawa, Chikashi Ishioka
Publikováno v:
Cancer Medicine, Vol 12, Iss 5, Pp 6170-6181 (2023)
Abstract Background A paradigm shift has occurred in cancer chemotherapy from tumor‐specific treatment with cytotoxic agents to personalized medicine with molecular‐targeted drugs. Thus, it is essential to identify genomic alterations and molecul
Externí odkaz:
https://doaj.org/article/8a80aeda87b14dc480de839989bfda14
Autor:
Yasuhiro Ichikawa, Hiroyuki Kuroda, Takeshi Ikegawa, Shun Kawai, Shin Ono, Ki-Sung Kim, Sadamitsu Yanagi, Kenji Kurosawa, Yoko Aoki, Mari Iwamoto, Hideaki Ueda
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 11, Iss 1, p 10 (2023)
Little information is available on age-related electrocardiographic changes in patients with Noonan syndrome. This single-center study evaluated the electrocardiograms of patients with Noonan syndrome. We divided the patients (n = 112; electrocardiog
Externí odkaz:
https://doaj.org/article/9777c2005b9a4411b03e1db5ba9acdb9
Autor:
Angelica Gualtieri, Nikolina Kyprianou, Louise C. Gregory, Maria Lillina Vignola, James G. Nicholson, Rachael Tan, Shin-ichi Inoue, Valeria Scagliotti, Pedro Casado, James Blackburn, Fernando Abollo-Jimenez, Eugenia Marinelli, Rachael E. J. Besser, Wolfgang Högler, I. Karen Temple, Justin H. Davies, Andrey Gagunashvili, Iain C.A.F. Robinson, Sally A. Camper, Shannon W. Davis, Pedro R. Cutillas, Evelien F. Gevers, Yoko Aoki, Mehul T. Dattani, Carles Gaston-Massuet
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Mutations in components of the MAP kinase pathway are associated with a group of syndromes known as RASopathies. Here, the authors identify gain-of-function mutations in BRAF in patients with RASopathies and congenital hypopituitarisms. This article
Externí odkaz:
https://doaj.org/article/e3eb9cf575fa459d8daff6264b919278
Autor:
Shin Ito, Aya Hashimoto, Kazunori Yamaguchi, Sadafumi Kawamura, Shingo Myoen, Maki Ogawa, Ikuro Sato, Takamichi Minato, Shingo Miyabe, Akira Nakazato, Keitaro Fujii, Mai Mochizuki, Haruna Fujimori, Keiichi Tamai, Tetsuya Niihori, Yoko Aoki, Akira Sugawara, Hironobu Sasano, Hiroshi Shima, Jun Yasuda
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract Carney complex (CNC) is a rare hereditary syndrome that involves endocrine dysfunction and the development of various types of tumors. Chromosome 2p16 and PRKAR1A on chromosome 17 are known susceptibility loci for CNC. Here we report a mothe
Externí odkaz:
https://doaj.org/article/5c026882ca754c859701f339f3e86dfd
Publikováno v:
Case Reports in Neurology, Vol 13, Iss 1, Pp 108-118 (2021)
We report a 45-year-old female with clinical features resembling Noonan syndrome (NS) who presented with significant nerve root hypertrophy. She was initially diagnosed with Charcot-Marie-Tooth disease because her gait disturbance gradually deteriora
Externí odkaz:
https://doaj.org/article/660763c891184fbeabaf49bfc2b367d2
Autor:
Junji Seto, Yoko Aoki, Kenichi Komabayashi, Keiko Yamada, Hitoshi Ishikawa, Tomoo Ichikawa, Tadayuki Ahiko, Katsumi Mizuta
Publikováno v:
Viruses, Vol 15, Iss 1, p 171 (2023)
Measles is a highly contagious, but vaccine-preventable disease caused by the measles virus (MeV). Although the administration of two doses of measles vaccines is the most effective strategy to prevent and eliminate measles, MeV continues to spread w
Externí odkaz:
https://doaj.org/article/d0e4577454d44f11b383c446e7641532
Autor:
Yasuko Shoji, Ayaha Hata, Takatoshi Maeyama, Tamaki Wada, Yuiko Hasegawa, Eriko Nishi, Shinobu Ida, Yuri Etani, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Masanobu Kawai
Publikováno v:
Clinical Pediatric Endocrinology; Apr2024, Vol. 33 Issue 2, p50-58, 9p