藤木亮次

研究者氏名	藤木亮次
	フジキリョウジ
URL
所属	千葉大学
部署	医学部附属病院がんゲノムセンター
職名	特任助教
学位	博士(東京大学)
科研費研究者番号	40534516
J-Global ID	202101013027886114

論文

<2 345 6 >

Biallelic GALM pathogenic variants cause a novel type of galactosemia.

Yoichi Wada Atsuo Kikuchi Natsuko Arai-Ichinoi Osamu Sakamoto Yusuke Takezawa Shinya Iwasawa Tetsuya Niihori Hiromi Nyuzuki Yoko Nakajima Erika Ogawa Mika Ishige Hiroki Hirai Hideo Sasai Ryoji Fujiki Matsuyuki Shirota Ryo Funayama Masayuki Yamamoto Tetsuya Ito Osamu Ohara Keiko Nakayama Yoko Aoki Seizo Koshiba Toshiyuki Fukao Shigeo Kure

Genetics in medicine : official journal of the American College of Medical Genetics 21(6) 1286-1294 2019年6月

PURPOSE: Galactosemia is caused by metabolic disturbances at various stages of galactose metabolism, including deficiencies in enzymes involved in the Leloir pathway (GALT, GALK1, and GALE). Nevertheless, the etiology of galactosemia has not been ...

Sox8 is essential for M cell maturation to accelerate IgA response at the early stage after weaning in mice.

Shunsuke Kimura Nobuhide Kobayashi Yutaka Nakamura Takashi Kanaya Daisuke Takahashi Ryoji Fujiki Mami Mutoh Yuuki Obata Toshihiko Iwanaga Tomoo Nakagawa Naoya Kato Shintaro Sato Tsuneyasu Kaisho Hiroshi Ohno Koji Hase

The Journal of experimental medicine 216(4) 831-846 2019年4月

Microfold (M) cells residing in the follicle-associated epithelium (FAE) of the gut-associated lymphoid tissue are specialized for antigen uptake to initiate mucosal immune responses. The molecular machinery and biological significance of M cell d...

学校心臓検診におけるQT延長の指摘から診断に至ったプロピオン酸血症の10歳女児例

笹井英雄後藤浩子川尻美和松本英樹大塚博樹吾郷耕彦藤木亮次小原收深尾敏幸

日本先天代謝異常学会雑誌 34 186-186 2018年9月

新生児マススクリーニング検査後のカラム分離による精査から診断に繋がったイソ吉草酸血症保因者の1例

杉山洋平菅原大輔但馬剛藤木亮次小原收笹井英雄深尾敏幸市橋光

日本先天代謝異常学会雑誌 34 230-230 2018年9月

Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing.

Ryoji Fujiki Makoto Ikeda Akiko Yoshida Maeda Akiko Yue Yao Motio Nishimura Kazuyuki Matsushita Tomohiko Ichikawa Tomoaki Tanaka Hiroko Morisaki Takayuki Morisaki Osamu Ohara

The Journal of molecular diagnostics : JMD 20(5) 572-582 2018年9月

There is significant debate within the diagnostics community regarding the accuracy of variant identification by next-generation sequencing and the necessity of confirmatory testing of detected variants. Because the quality threshold to discrimina...