腎コロボーマ症候群特異的iPS細胞による腎臓病の病態解明

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Author: 古市, 賢吾ほか

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Publication date: 2017-06-09

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Note (General)：: 金沢大学附属病院血液浄化療法部本課題は，稀少遺伝性疾患である，PAX2遺伝子変異を伴った腎コロボーマ症候群から疾患特異iPS細胞を樹立し，本症候群の病態解明，治療法開発および薬剤スクリーニングシステムを構築するものである．PAX2遺伝子変異を伴った3例の腎コロボーマ症候群症例の血球細胞からiPS細胞...

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https://kaken.nii.ac.jp/search/?qm=50432125

https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-15K15328/

https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-15K15328/15K15328seika/

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Material Type: 文書・図像類
Title: 腎コロボーマ症候群特異的iPS細胞による腎臓病の病態解明
Author/Editor: 古市, 賢吾
Furuichi, Kengo
Author Heading: 古市, 賢吾
Furuichi, Kengo
Publication Date: 2017-06-09
Publication Date (W3CDTF): 2017-06-09
Alternative Title: Pathophysiological analysis using iPS cells from patient with Renal Coloboma syndrome
Periodical title: 平成28(2016)年度科学研究費補助金挑戦的萌芽研究研究成果報告書 = 2016 Fiscal Year Final Research Report
No. or year of volume/issue: 2015-04-01 - 2017-03-31
Volume: 2015-04-01 - 2017-03-31
Pages: 5p.-
Text Language Code: jpn
Subject Heading: ＰＡＸ2
腎コロボーマ症候群
Target Audience: 一般
Note (General): 金沢大学附属病院血液浄化療法部
本課題は，稀少遺伝性疾患である，PAX2遺伝子変異を伴った腎コロボーマ症候群から疾患特異iPS細胞を樹立し，本症候群の病態解明，治療法開発および薬剤スクリーニングシステムを構築するものである．PAX2遺伝子変異を伴った3例の腎コロボーマ症候群症例の血球細胞からiPS細胞およびコントロールの健常日本人由来iPS細胞から中間中胚葉および尿細管などの腎系譜細胞への誘導を確立した．また，腎系譜細胞へ誘導された経時的なサンプルから、候補遺伝子に対する経時的発現遺伝子解析を行い，PAX2の遺伝子発現と呼応して発現増強し，疾患特異iPS細胞で発現増強の低減が見られる因子群を確認した．
In this study, we established disease-specific iPS cells from renal coloboma syndrome with PAX2 gene mutation, which is a rare genetic disorder. To clarify the pathogenesis of this syndrome, we used these iPS cells. The cells were also used to investigate therapeutic target genes.We induced kidney lineage cells, such as mesoderm and renal tubules, from disease-specific and control iPS cells. In addition, time-sequential expression gene analysis was performed. Some gene expressions were enhanced in response to gene expression of PAX2, and some candidate genes in which expression was reduced in disease specific iPS cells was detected.
研究課題/領域番号:15K15328, 研究期間(年度):2015-04-01 - 2017-03-31
DOI: 10.24517/00051540
Access Restrictions: 限定公開
Related Material: https://kaken.nii.ac.jp/search/?qm=50432125
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-15K15328/
https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-15K15328/15K15328seika/
Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）
https://irdb.nii.ac.jp
Original Data Provider (Database): 金沢大学 : 金沢大学学術情報リポジトリKURA