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このアイテムのファイル:
| 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 |
完全メタデータレコード
| DCフィールド | 値 | 言語 |
|---|---|---|
| dc.contributor.author | Shibata, Hirofumi | en |
| dc.contributor.author | Nakajima, Daisuke | en |
| dc.contributor.author | Konno, Ryo | en |
| dc.contributor.author | Hijikata, Atsushi | en |
| dc.contributor.author | Higashiguchi, Motoko | en |
| dc.contributor.author | Nihira, Hiroshi | en |
| dc.contributor.author | Shimodera, Saeko | en |
| dc.contributor.author | Miyamoto, Takayuki | en |
| dc.contributor.author | Nishitani-Isa, Masahiko | en |
| dc.contributor.author | Hiejima, Eitaro | en |
| dc.contributor.author | Izawa, Kazushi | en |
| dc.contributor.author | Takita, Junko | en |
| dc.contributor.author | Heike, Toshio | en |
| dc.contributor.author | Okamura, Ken | en |
| dc.contributor.author | Ohnishi, Hidenori | en |
| dc.contributor.author | Ishimura, Masataka | en |
| dc.contributor.author | Okada, Satoshi | en |
| dc.contributor.author | Yamashita, Motoi | en |
| dc.contributor.author | Morio, Tomohiro | en |
| dc.contributor.author | Kanegane, Hirokazu | en |
| dc.contributor.author | Imai, Kohsuke | en |
| dc.contributor.author | Nakamura, Yasuko | en |
| dc.contributor.author | Nonoyama, Shigeaki | en |
| dc.contributor.author | Uchiyama, Toru | en |
| dc.contributor.author | Onodera, Masafumi | en |
| dc.contributor.author | Nishikomori, Ryuta | en |
| dc.contributor.author | Ohara, Osamu | en |
| dc.contributor.author | Kawashima, Yusuke | en |
| dc.contributor.author | Yasumi, Takahiro | en |
| dc.contributor.alternative | 柴田, 洋史 | ja |
| dc.contributor.alternative | 中島, 大輔 | ja |
| dc.contributor.alternative | 紺野, 亮 | ja |
| dc.contributor.alternative | 土方, 敦司 | ja |
| dc.contributor.alternative | 東口, 素子 | ja |
| dc.contributor.alternative | 仁平, 寛士 | ja |
| dc.contributor.alternative | 下寺, 佐栄子 | ja |
| dc.contributor.alternative | 宮本, 尚幸 | ja |
| dc.contributor.alternative | 伊佐, 真彦 | ja |
| dc.contributor.alternative | 日衛嶋, 栄太郎 | ja |
| dc.contributor.alternative | 井澤, 和司 | ja |
| dc.contributor.alternative | 滝田, 順子 | ja |
| dc.contributor.alternative | 平家, 俊男 | ja |
| dc.contributor.alternative | 岡村, 賢 | ja |
| dc.contributor.alternative | 大西, 秀典 | ja |
| dc.contributor.alternative | 石村, 匡崇 | ja |
| dc.contributor.alternative | 岡田, 賢 | ja |
| dc.contributor.alternative | 山下, 基 | ja |
| dc.contributor.alternative | 森尾, 友宏 | ja |
| dc.contributor.alternative | 金兼, 弘和 | ja |
| dc.contributor.alternative | 今井, 耕輔 | ja |
| dc.contributor.alternative | 中村, 康子 | ja |
| dc.contributor.alternative | 野々山, 恵章 | ja |
| dc.contributor.alternative | 内山, 徹 | ja |
| dc.contributor.alternative | 小野寺, 雅史 | ja |
| dc.contributor.alternative | 西小森, 隆太 | ja |
| dc.contributor.alternative | 小原, 收 | ja |
| dc.contributor.alternative | 川島, 祐介 | ja |
| dc.contributor.alternative | 八角, 高裕 | ja |
| dc.date.accessioned | 2024-12-03T04:36:40Z | - |
| dc.date.available | 2024-12-03T04:36:40Z | - |
| dc.date.issued | 2024-10-25 | - |
| dc.identifier.uri | http://hdl.handle.net/2433/290676 | - |
| dc.description | 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. | ja |
| dc.description.abstract | 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. | en |
| dc.language.iso | eng | - |
| dc.publisher | Springer Nature | en |
| dc.rights | © The Author(s) 2024 | en |
| dc.rights | 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. | en |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | - |
| dc.subject | Newborn screening | en |
| dc.subject | Dried blood spot | en |
| dc.subject | Non-targeted proteomics | en |
| dc.title | A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity | en |
| dc.type | journal article | - |
| dc.type.niitype | Journal Article | - |
| dc.identifier.jtitle | Journal of Clinical Immunology | en |
| dc.identifier.volume | 45 | - |
| dc.relation.doi | 10.1007/s10875-024-01821-7 | - |
| dc.textversion | publisher | - |
| dc.identifier.artnum | 33 | - |
| dc.address | Present address: Department of Pediatrics, Kyoto University Graduate School of Medicine | en |
| dc.address | Present address: Department of Applied Genomics, Kazusa DNA Research Institute | en |
| dc.address | Department of Applied Genomics, Kazusa DNA Research Institute | en |
| dc.address | School of Life Sciences, Tokyo University of Pharmacy and Life Sciences | en |
| dc.address | Department of Pediatrics, Kyoto University Graduate School of Medicine | en |
| dc.address | Department of Pediatrics, Kyoto University Graduate School of Medicine | en |
| dc.address | Department of Pediatrics, Kyoto University Graduate School of Medicine | en |
| dc.address | Department of Pediatrics, Kyoto University Graduate School of Medicine | en |
| dc.address | Department of Pediatrics, Kyoto University Graduate School of Medicine | en |
| dc.address | Department of Pediatrics, Kyoto University Graduate School of Medicine | en |
| dc.address | Department of Pediatrics, Kyoto University Graduate School of Medicine | en |
| dc.address | Department of Pediatrics, Kyoto University Graduate School of Medicine | en |
| dc.address | Department of Pediatrics, Kyoto University Graduate School of Medicine | en |
| dc.address | Department of Dermatology, Faculty of Medicine, Yamagata University | en |
| dc.address | Department of Pediatrics, Gifu University Graduate School of Medicine | en |
| dc.address | Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University | en |
| dc.address | Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences | en |
| dc.address | Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU) | en |
| dc.address | Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU) | en |
| dc.address | Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU) | en |
| dc.address | Department of Pediatrics, National Defense Medical College | en |
| dc.address | Department of Pediatrics, National Defense Medical College | en |
| dc.address | Department of Pediatrics, National Defense Medical College | en |
| dc.address | Department of Human Genetics, National Center for Child Health and Development | en |
| dc.address | Gene & Cell Therapy Promotion Center, National Center for Child Health and Development | en |
| dc.address | Department of Pediatrics and Child Health, Kurume University School of Medicine | en |
| dc.address | Department of Applied Genomics, Kazusa DNA Research Institute | en |
| dc.address | Department of Applied Genomics, Kazusa DNA Research Institute | en |
| dc.address | Department of Pediatrics, Kyoto University Graduate School of Medicine; Japan Environment and Children's Study Kyoto Regional Center, Kyoto University Graduate School of Medicine | en |
| dc.identifier.pmid | 39453496 | - |
| dc.relation.url | https://www.kyoto-u.ac.jp/ja/research-news/2024-11-01 | - |
| dcterms.accessRights | open access | - |
| dc.identifier.pissn | 0271-9142 | - |
| dc.identifier.eissn | 1573-2592 | - |
| 出現コレクション: | 学術雑誌掲載論文等 | |
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