Zobrazeno 71 - 80
of 402
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu-Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Cinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(12)
Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypo
Autor:
Shogo Ito, Minoru Kokubo, Daisuke Ieda, Kohei Aoyama, Ikumi Hori, Shinji Saitoh, Yuji Nakamura, Seimi Ebe, Kei Ohashi, Ayako Hattori
Publikováno v:
Brain and Development. 43:590-595
Introduction Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their correct tRNAs. Bi-allelic truncating variants i
Autor:
Yusuke Okuno, Shinji Saitoh, Noriko Nagai, Taichi Kato, Hidenori Yamamoto, Yoshiyuki Takahashi, Kohji Kato, Satoshi Hayano, Atsuto Onoda, Yoshie Fukasawa
Publikováno v:
International Journal of Cardiology. 326:81-87
Background A gain-of-function mutation in germline ABL1 causes a syndrome including congenital heart defects. However, the molecular mechanisms of this syndrome remain unknown. In this study, we found a novel ABL1 mutation in a Japanese family with v
Autor:
Kei Ohashi, Takanori Yamagata, Masayuki Imaeda, Satomi Fukuhara, Noriko Miyake, Yoshie Kurokawa, Yoshinori Tsurusaki, Tomoko Asai, Masahide Goto, Naomichi Matsumoto, Shinji Saitoh, Tatsuya Anzai, Taishi Miyachi
Publikováno v:
Journal of Autism and Developmental Disorders. 51:4655-4662
Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparativ
Autor:
Sachiko Iwata, Shin Kato, Tadashi Hisano, Yuko Mizutani, Osuke Iwata, Satoko Fukaya, Yung Chieh Lin, Koya Kawase, Shinji Saitoh, Masahiro Kinoshita
Publikováno v:
Pediatrics and Neonatology, Vol 62, Iss, Pp S10-S15 (2021)
Despite the increased survival opportunities for extremely preterm infants, their long-term cognitive outcomes remain poor, with increased incidence of cognitive impairments in childhood and reduced opportunities to attend higher education in young a
Autor:
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Huber, Céline, Antón-Plágaro, Carlos, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Simon, Marleen, van Binsbergen, Ellen, van Jaarsveld, Richard H., Naomichi Matsumoto, Cormier-Daire, Valerie, Cullen, Peter J., Shinji Saitoh, Kohji Kato
Publikováno v:
Journal of Medical Genetics; Apr2023, Vol. 60 Issue 4, p359-367, 14p
Autor:
Masashi Ogasawara, Shinji Saitoh, Yukako Nishimori, Shinichiro Hayashi, Aritoshi Iida, Satoru Noguchi, lchizo Nishino
Publikováno v:
Neuromuscular Disorders. 32:845-846
Autor:
Daiki Kato, Satomi Mitsuhashi, Fuyuki Miya, Shinji Saitoh, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Yuta Kochi
Publikováno v:
Journal of human genetics. 67(12)
In genetic testing of Mendelian diseases, it is a bioinformatics challenge to effectively prioritize disease-causing candidate genes listed from massively parallel sequencing. Tissue specificity of the gene expression levels may give a clue because i
Publikováno v:
Early Human Development. 176:105716
Autor:
Keitaro, Mizumoto, Kumiko, Kato, Kaoru, Fujinami, Tadasu, Sugita, Iichiro, Sugita, Ayako, Hattori, Shinji, Saitoh, Shinji, Ueno, Kazushige, Tsunoda, Takeshi, Iwata, Mineo, Kondo
Publikováno v:
Medicine. 101:e32161
Bardet-Biedl Syndrome (BBS) is an autosomal recessive systemic disorder characterized by retinitis pigmentosa, polydactyly, obesity, intellectual disability, renal impairments, and hypogonadism. The purpose of this study was to determine the ocular c