Zobrazeno 81 - 90
of 402
pro vyhledávání: '"Shinji Saitoh"'
Publikováno v:
Journal of Human Genetics. 66:491-498
CUL3 forms Cullin-Ring ubiquitin ligases (CRL) with Ring-box protein and BTB-adaptor proteins. A variety of BTB-adaptor proteins have been reported to interact with the N-terminus of CUL3, which makes it possible to recognize various substrates for d
Autor:
Farnaz Hosseini Beheshti, Noriko Miyake, Shermineh Heydari, Jafar Nasiri, Shinji Saitoh, Ahmad Reza Salehi Chaleshtori, Naomichi Matsumoto, Kohei Hamanaka, Atsushi Takata, Masoud Garshasbi
Publikováno v:
Journal of Human Genetics. 66:445-448
Intellectual disability (ID) accounts for 1% of the general population, and it is caused by the interplay between the genetic and/or environmental factors. The genetic components responsible for the development of ID are highly heterogeneous, and the
Autor:
Akiko Tamasaki, Ikumi Hori, Masayoshi Oguri, Hiroyuki Yamada, Yoshihiro Maegaki, Shinji Saitoh
Publikováno v:
Yamada Hiroyuki, Tamasaki Akiko, Oguri Masayoshi, et al. Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome. EPILEPTIC DISORDERS. 2020. 22(5). 673-677. doi:10.1684/epd.2020.1212
Pitt-Hopkins syndrome is a rare genetic disease, characterised by severe intellectual disability, distinctive dysmorphic features, epilepsy and distinctive breathing abnormalities during wakefulness. Here, we describe the case of a 22-year-old woman
Publikováno v:
Nihon Kyukyu Igakukai Zasshi: Journal of Japanese Association for Acute Medicine. 31:345-352
Autor:
Akihisa Okumura, Chikako Ogawa, Tetsuo Kubota, Hirokazu Kurahashi, Yuji Ito, Shunsuke Ogaya, Shinji Saitoh, Ayako Hattori, Motomasa Suzuki, Takeshi Tsuji, Naoko Ishihara, Hiroyuki Kidokoro, Jun Natsume, Tatsuya Fukasawa
Publikováno v:
Pediatric Neurology. 109:79-84
Objective To investigate clinical risk factors for acute magnetic resonance imaging (MRI) abnormalities in patients with benign convulsions with mild gastroenteritis or benign infantile epilepsy. Study design We investigated clinical and diffusion-we
Autor:
Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, Yoshiyuki Takahashi
Publikováno v:
Scientific reports. 12(1)
Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of the Init
Autor:
Yohane Miyata, Yonehiro Kanemura, Yuri Uchiyama, Fumihito Nozaki, Fumikatsu Nohara, Satomi Mitsuhashi, Satoshi Hada, Akihito Takeuchi, Fumihiko Ishida, Fumitaka Yoshioka, Hiroshi Terashima, Jiu Okuno-Yuguchi, Hirotomo Saitsu, Tadayuki Kumagai, Hidetoshi Taniguchi, Hiroshi Doi, Atsushi Takata, Atsuko Harada, Shinji Saitoh, Hitoshi Osaka, Eri Imagawa, Yusuke Mitani, Ayako Hattori, Yasuji Kitabatake, Koichi Tanda, Jun-ichi Takanashi, Atsushi Fujita, Hiroshi Arai, Ichiro Kuki, Makoto Kinoshita, Chikako Ogawa, Toshiyuki Itai, Yoshinori Tsurusaki, Yoshihiko Saito, Noriko Togashi, Noriko Miyake, Mazumi Miura, Hiroyuki Higashiyama, Masayasu Ohta, Yoshiichi Abe, Tetsuhiro Fukuyama, Yusuke Yachi, Tomoko Tandou, Etsuko Miyagi, Satoko Kumada, Shoko Shimokawa, Naomichi Matsumoto, Yuko Takei, Keiko Hirano, Satori Hirai, Keiichi Ozono, Yukihiro Kitai, Yuichi Takami, Mitsuo Motobayashi, Ryoko Honda, Masafumi Morimoto, Takaaki Nakano, Yuki Maki, Satoko Miyatake, Akihiko Ishiyama, Tatsuya Fukasawa, Mitsuhiro Kato, Yoshiteru Azuma, Robert Smigiel, Yushi Noguchi, Tsuyoshi Omi, Kohei Hamanaka, Naoki Ando, Masataka Taguri, Takeshi Mizuguchi, Chizuru Seiwa, Mitsuko Nakashima, Eriko Koshimizu, Shin Nabatame, Teruyuki Ishikura
Publikováno v:
Journal of Medical Genetics. 58:505-513
BackgroundVariants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with COL4A1/2 variants remain unclear.MethodsWe examined COL4A
Autor:
Shinji Saitoh, Masanori Kouwaki, Hitoshi Kanno, Hiromi Ogura, Takahiro Sugiura, Tomoko Suzuki, Toshiyuki Yamamoto, Takao Togawa
Publikováno v:
Journal of Pediatric Hematology/Oncology. 43:e250-e254
Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Target
Autor:
Tetsushi Yoshikawa, Toshiyuki Fukao, Yoshiyuki Takahashi, Hirokazu Kurahashi, Shinji Saitoh, Hideyuki Iwayama, Masahiro Hirayama, Jun Natsume, Shingo Numoto, Akihisa Okumura
Publikováno v:
Pediatrics International. 62:337-340
Background An outbreak of acute flaccid myelitis was chronologically correlated with an outbreak of severe respiratory illness in Japan in 2015. We hypothesized that increases in children hospitalized with severe respiratory illnesses might also be a
Autor:
Tadashi Kaname, Shinji Saitoh, Naoya Yamaguchi, Kohji Kato, Ayako Hattori, Kyoko Ban, Yuji Nakamura, Atsushi Suzuki, Yusuke Okuno, Yoshiyuki Takahashi, Hideki Muramatsu
Publikováno v:
Brain and Development. 42:298-301
Mucolipidosis type IV (MLIV) is a rare lysosomal storage disorder causing severe psychomotor developmental delay and progressive visual impairment. MLIV is an autosomal recessive disease caused by mutations in MCOLN1, which encodes for mucolipin-1. H