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| ファイル | 記述 | サイズ | フォーマット | |
|---|---|---|---|---|
| s10875-024-01821-7.pdf | 4.76 MB | Adobe PDF | 見る/開く |
| タイトル: | A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity |
| 著者: | Shibata, Hirofumi Nakajima, Daisuke Konno, Ryo Hijikata, Atsushi Higashiguchi, Motoko Nihira, Hiroshi   https://orcid.org/0000-0003-4620-0916 (unconfirmed)Shimodera, Saeko Miyamoto, Takayuki Nishitani-Isa, Masahiko Hiejima, Eitaro  Izawa, Kazushi https://orcid.org/0000-0003-1080-0936 (unconfirmed)Takita, Junko https://orcid.org/0000-0002-2452-6520 (unconfirmed)Heike, Toshio Okamura, Ken Ohnishi, Hidenori Ishimura, Masataka Okada, Satoshi Yamashita, Motoi Morio, Tomohiro Kanegane, Hirokazu Imai, Kohsuke Nakamura, Yasuko Nonoyama, Shigeaki Uchiyama, Toru Onodera, Masafumi Nishikomori, Ryuta Ohara, Osamu Kawashima, Yusuke Yasumi, Takahiro |
| 著者名の別形: | 柴田, 洋史 中島, 大輔 紺野, 亮 土方, 敦司 東口, 素子 仁平, 寛士 下寺, 佐栄子 宮本, 尚幸 伊佐, 真彦 日衛嶋, 栄太郎 井澤, 和司 滝田, 順子 平家, 俊男 岡村, 賢 大西, 秀典 石村, 匡崇 岡田, 賢 山下, 基 森尾, 友宏 金兼, 弘和 今井, 耕輔 中村, 康子 野々山, 恵章 内山, 徹 小野寺, 雅史 西小森, 隆太 小原, 收 川島, 祐介 八角, 高裕 |
| キーワード: | Newborn screening Dried blood spot Non-targeted proteomics |
| 発行日: | 25-Oct-2024 |
| 出版者: | Springer Nature |
| 誌名: | Journal of Clinical Immunology |
| 巻: | 45 |
| 論文番号: | 33 |
| 抄録: | Purpose: Newborn screening using dried blood spot (DBS) samples for the targeted measurement of metabolites and nucleic acids has made a substantial contribution to public healthcare by facilitating the detection of neonates with genetic disorders. Here, we investigated the applicability of non-targeted quantitative proteomics analysis to newborn screening for inborn errors of immunity (IEIs). Methods: DBS samples from 40 healthy newborns and eight healthy adults were subjected to non-targeted proteomics analysis using liquid chromatography-mass spectrometry after removal of the hydrophilic fraction. Subsequently, DBS samples from 43 IEI patients were analyzed to determine whether patients can be identified by reduced expression of disease-associated proteins. Results: DBS protein profiling allowed monitoring of levels of proteins encoded by 2912 genes, including 1110 listed in the Online Mendelian Inheritance in Man database, in healthy newborn samples, and was useful in identifying patients with IEIs by detecting reduced levels of disease causative proteins and their interacting proteins, as well as cell-phenotypical alterations. Conclusion: Our results indicate that non-targeted quantitative protein profiling of DBS samples can be used to identify patients with IEIs and develop a novel newborn screening platform for genetic disorders. |
| 記述: | 原発性免疫不全症の新生児期診断の実現へ --多数の遺伝性疾患を対象とした網羅的ろ紙血プロテオーム検査法の開発 --.京都大学プレスリリース. 2024-11-01. |
| 著作権等: | © The Author(s) 2024 This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. |
| URI: | http://hdl.handle.net/2433/290676 |
| DOI(出版社版): | 10.1007/s10875-024-01821-7 |
| PubMed ID: | 39453496 |
| 関連リンク: | https://www.kyoto-u.ac.jp/ja/research-news/2024-11-01 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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