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2016 Fiscal Year Final Research Report

Pathophysiological analysis using iPS cells from patient with Renal Coloboma syndrome

Research Project

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Project/Area Number 15K15328
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Kidney internal medicine
Research InstitutionKanazawa University

Principal Investigator

FURUICHI KENGO  金沢大学, 附属病院, 准教授 (50432125)

Project Period (FY) 2015-04-01 – 2017-03-31
KeywordsPAX2 / 腎コロボーマ症候群
Outline of Final Research Achievements

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.

Free Research Field

腎臓病

URL: 

Published: 2018-03-22  

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