Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Mayo Ikeuchi"'
Autor:
Shaohong Lai, Hiroshi Shiraishi, Wulan Apridita Sebastian, Nobuyuki Shimizu, Ryohei Umeda, Mayo Ikeuchi, Kyoko Kiyota, Takashi Takeno, Shuya Miyazaki, Shinji Yano, Tatsuo Shimada, Akihiko Yoshimura, Reiko Hanada, Toshikatsu Hanada
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-15 (2024)
Abstract SMG9 is an essential component of the nonsense-mediated mRNA decay (NMD) machinery, a quality control mechanism that selectively degrades aberrant transcripts. Mutations in SMG9 are associated with heart and brain malformation syndrome (HBMS
Externí odkaz:
https://doaj.org/article/69b86210ae654ce4bc27a66b71939425
Publikováno v:
CEN Case Rep
Rituximab (RTX) has been used to treat B cell lineage lymphoma/leukemia or autoimmune or autoinflammatory disorders. RTX therapy has been extensively applied to cases of frequently relapsing nephrotic syndrome (FRNS) and steroid-dependent nephrotic s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::441bebc7242920b7ac4e4f6da5075766
https://doi.org/10.1007/s13730-022-00709-y
https://doi.org/10.1007/s13730-022-00709-y
Autor:
Wulan Apridita Sebastian, Hiroshi Shiraishi, Nobuyuki Shimizu, Ryohei Umeda, Shaohong Lai, Mayo Ikeuchi, Ikuko Morisaki, Shinji Yano, Akihiko Yoshimura, Reiko Hanada, Toshikatsu Hanada
Publikováno v:
Biochemical and biophysical research communications. 624
Autosomal recessive primary microcephaly (MCPH) is a rare congenital disorder characterized by a below average brain volume at birth and is associated with neurodevelopmental disorders such as growth retardation and intellectual disability. Mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2c4fa46d3fa59d012ef952212a0a932
https://pubmed.ncbi.nlm.nih.gov/35940133
https://pubmed.ncbi.nlm.nih.gov/35940133
Autor:
Tomoyo Itonaga, Makoto Fujiwara, Keiichi Ozono, Mayo Ikeuchi, Takuo Kubota, Kyoko Kiyota, Kenji Ihara, Yasuhisa Ohata, Fumika Kawano-Matsuda
Publikováno v:
CEN Case Rep
HDR syndrome is characterized by the triad of primary hypoparathyroidism, sensorineural hearing loss and renal malformation with widely variable manifestations. It is an autosomal dominant inherited disease caused by a mutation of the GATA3 (NM_00100
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf978218ec54b10669b496c80fa90665
https://europepmc.org/articles/PMC8019435/
https://europepmc.org/articles/PMC8019435/
Autor:
Rieko Wasada, Kenji Toyokuni, Chika Gotoh, Atsuhiko Haigo, Mayo Ikeuchi, Mizuho Takahashi, Maki Kiriya, Rie Kato, Nanae Kawano, Tomoko Okamoto, Yousuke Handa, Seigo Korematsu, Tomoyuki Takano
Publikováno v:
Asia Pacific Allergy
Background Following the increase in the number of children with food allergies, support systems are now required for school lunches, but a large-scale factual investigation has not been carried out. Objective We evaluated the features of elimination
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2db0574d2928933cfdcd8e6cf67daf27
https://doi.org/10.5415/apallergy.2017.7.2.92
https://doi.org/10.5415/apallergy.2017.7.2.92
Autor:
Noriko Sangu, Shino Shimada, Yuko Kako, Katsumi Imai, Kiyokuni Miura, Toshiyuki Yamamoto, Nobuhiko Okamoto, Shuichi Shimakawa, Hironao Numabe, Satoru Nagata, Kenjiro Kosaki, Haruko Sakamoto, Mayo Ikeuchi, Tatsuro Izumi, Kiyoshi Takemoto, Seiji Mizuno, Tomohiro Chiyonobu, Ai Hayashi, Yoshihiro Maegaki, Mari Matsuo, Koichi Minami, Kenji Shimizu, Kyoko Watanabe, Tomohiro Kumada, Kazuhiro Haginoya, Kiyotaka Tomiwa, Masao Adachi, Yoko Hiraki, Kyoko Hirasawa, Toshiro Nagai, Yoshiaki Saito, Keiko Shimojima, Masaya Kubota
Publikováno v:
Brain and Development. 37:515-526
Objective Monosomy 1p36 syndrome is the most commonly observed subtelomeric deletion syndrome. Patients with this syndrome typically have common clinical features, such as intellectual disability, epilepsy, and characteristic craniofacial features. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2ca8ba77c064b3b314b6d6b19142970
https://doi.org/10.1016/j.braindev.2014.08.002
https://doi.org/10.1016/j.braindev.2014.08.002