Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Osuke Migita"'
Autor:
Kosuke Taniguchi, Mikihiro Inoue, Katsuhiro Arai, Keiichi Uchida, Osuke Migita, Yui Akemoto, Junya Hirayama, Ichiro Takeuchi, Hirotaka Shimizu, Kenichiro Hata
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-5 (2021)
Abstract A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease
Externí odkaz:
https://doaj.org/article/cc11e920333f4d599ea4493ddbe64d3b
Autor:
Ichiro Takeuchi, Kanako Tanase-Nakao, Ayame Ogawa, Tohru Sugawara, Osuke Migita, Makoto Kashima, Touko Yamazaki, Akihiro Iguch, Yasuhiro Naiki, Toru Uchiyama, Junya Tamaoki, Hiroki Maeda, Hirotaka Shimizu, Toshinao Kawai, Kosuke Taniguchi, Hiromi Hirata, Makoto Kobayashi, Kimikazu Matsumoto, Kiyoshi Naruse, Kenichiro Hata
Publikováno v:
Journal of Medical Genetics; Mar2024, Vol. 61 Issue 3, p239-243, 5p
Autor:
Kosuke Taniguchi, Fuyuki Hasegawa, Yuka Okazaki, Asuka Hori, Hiroko Ogata-Kawata, Saki Aoto, Osuke Migita, Tomoko Kawai, Kazuhiko Nakabayashi, Kohji Okamura, Kana Fukui, Seiji Wada, Katsusuke Ozawa, Yushi Ito, Haruhiko Sago, Kenichiro Hata
BackgroundWhole-exome sequencing (WES) is a strong diagnostic tool for foetal structural anomalies, but the causative gene for more than half the anomalies have not been identified. Therefore, improving the diagnostic yield based on WES data is essen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f274e9e45f2a92bd2cd5c67ec08c653
https://doi.org/10.1101/2023.02.05.23285039
https://doi.org/10.1101/2023.02.05.23285039
Publikováno v:
Journal of mucopolysaccharidosis and rare disease. 2:19-22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d43bb82094dbc9affd618684d292ade2
https://doi.org/10.19125/jmrd.2016.2.1.19
https://doi.org/10.19125/jmrd.2016.2.1.19
Autor:
Takeshi Nagashima, Daisuke Yamaguchi, Koichiro Doi, Fumihiko Matsuda, Kenichiro Hata, Shoji Tsuji, Ryo Funayama, Shinichi Morishita, Kohji Okamura, Akihiro Umezawa, Ryo Yamada, Masakazu Shimizu, Jun Yoshimura, Noriko Miyake, Kazuhiko Nakabayashi, Jun Mitsui, Yoichi Matsubara, Yoshinori Tsurusaki, Mitsuko Nakashima, Koichiro Higasa, Yoko Aoki, Hirotomo Saitsu, Naomichi Matsumoto, Osuke Migita, Keiko Nakayama, Wen Ya Ko, Takahisa Kawaguchi, Hiroyuki Ishiura, Keiko Hayashi, Tetsuya Niihori, Maiko Narahara
Publikováno v:
Journal of Human Genetics
Whole-genome and -exome resequencing using next-generation sequencers is a powerful approach for identifying genomic variations that are associated with diseases. However, systematic strategies for prioritizing causative variants from many candidates
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d84c8087d2817f195df695bcb67cb20
http://europepmc.org/articles/PMC4931044
http://europepmc.org/articles/PMC4931044