Zobrazeno 1 - 10
of 38
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:
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:
Yasuyuki Iwata, Katsuhisa Ogata, Keiko Ishigaki, Tsuyoshi Matsumura, Hiroyuki Awano, Shin'ichi Takeda, Akinori Nakamura, Michinori Funato, Satoshi Kuru, Hirofumi Komaki, Satoru Kinoshita, Shinji Saitoh, Hiroyuki Yajima, Yoshihiro Maegaki, Kazuhiro Shiraishi, T. Nakayama
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 2, Pp 181-190 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective Duchenne muscular dystrophy (DMD) is a progressive muscular disease characterized by chronic cycles of inflammatory and necrotic processes. Prostaglandin D2 (PGD2) is produced by hematopoietic PGD synthase (HPGDS), which is pathologically i
Autor:
Kennosuke Tsuda, Seiichi Morokuma, Masahiro Kinoshita, Fumie Fujita, Mitsuaki Unno, Sachiko Iwata, Takashi Horinouchi, Shinji Saitoh, Osuke Iwata
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Scientific Reports
Scientific Reports
Peripartum depression is a common, serious complication in mothers. To assess the influence of infant care, sleep and growth on the risk of peripartum depression, 1,271 mothers of healthy one-month-old infants completed comprehensive questionnaires i
Autor:
Hirohisa Kano, Takahiro Kurihara, Taro Matsuki, Shinji Saitoh, Michihiro Kamijima, Toyonori Omori, Sayaka Kato, Mayumi Sugiura-Ogasawara, Yasuyuki Yamada, Takeshi Ebara, Yosuke Matsumoto
Publikováno v:
Thrombosis and Haemostasis. 119:606-617
Background Since venous thromboembolism (VTE) is one of the causes of maternal mortality, several guidelines recommend prophylaxis using low molecular weight heparin for women in high-risk groups. The number of large population-based studies examinin
Autor:
Mitsuhiro Kato, Koh-ichi Nagata, Nobuhiko Okamoto, Yoko Narumi-Kishimoto, Yonehiro Kanemura, Hiroshi Ozawa, Hidenori Ito, Kohji Kato, Ikumi Hori, Kenjiro Kosaki, Shinji Saitoh, Yoshiyuki Takahashi, Tatsuhiko Tsunoda, Nanako Hamada, Yutaka Negishi, Ayako Hattori, Fuyuki Miya
Publikováno v:
Journal of Medical Genetics. 56:388-395
BackgroundIn this study, we aimed to identify the gene abnormality responsible for pathogenicity in an individual with an undiagnosed neurodevelopmental disorder with megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disabil
Autor:
Keith A. Boroevich, Yutaka Negishi, Naoki Ando, Fuyuki Miya, Kenjiro Kosaki, Shinji Saitoh, Mami Yamasaki, Ikumi Hori, Tatsuhiko Tsunoda, Nobuhiko Okamoto, Mitsuhiro Kato, Ayako Hattori, Yonehiro Kanemura
Publikováno v:
Journal of Human Genetics. 63:957-963
Microcephaly-capillary malformation syndrome is a congenital and neurodevelopmental disorder caused by biallelic mutations in the STAMBP gene. Here we identify the novel homozygous mutation located in the SH3 binding motif of STAMBP (NM_006463.4) (c.
Autor:
Ayumi Matsumoto, Takashi Tsuboi, Takeo Yoshikawa, Ryoko Fukai, Nobuhiko Okamoto, Yasunari Sakai, Takeshi Mizuguchi, Shouichi Ohga, Hitoshi Osaka, Naomichi Matsumoto, Chizuru Seiwa, Kei Ohashi, Saoko Takeshita, Mako Morikawa, Masatsugu Tsujii, Norio Mori, Kazuyuki Nakamura, Mitsuhiro Kato, Shinji Saitoh, Takashi Okada, Eriko Koshimizu, Aiko Ito, Yota Uno, Toshiro Hara, Kanako Ishizuka, Yoko Hiraki, Noriko Miyake, Toshifumi Suzuki, Tomoko Toyota, Kazuhiko Nakamura, Itaru Kushima, Ryota Hashimoto, Toyojiro Matsuishi, Jun Tohyama, Fumiaki Tanaka, Norio Ozaki, Atsushi Takata, Tomoko Saikusa, Takumi Nakamura, Satoko Miyatake, Tadafumi Kato, Emi Shirahata, Yuka Yasuda, Hirotomo Saitsu, Yoshinori Tsurusaki, Mitsuko Nakashima
Publikováno v:
Cell Reports, Vol 22, Iss 3, Pp 734-747 (2018)
Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the "de novo paradigm" of ASDs across ethnicities. Based on this
Autor:
Yoko Nishimura, Tetsuya Okazaki, Masachika Kai, Eiji Nanba, Rika Hiraiwa, Shinji Saitoh, Yoshihiro Maegaki, Yoshiaki Saito, Kaori Adachi
Publikováno v:
Epileptic Disorders. 19:339-344
SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video-EEG, have not been reported. We report the case of a 4-year-ol