Genetic bases and pathogenic mechanisms of nephronophthisis

Marion Delous , Helori M. Gaudé , Sophie Saunier
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引用次数: 4

Abstract

Nephronophthisis is a recessive cystic kidney disorder that belongs to the group of ciliopathies. Most of the causal gene products localize at the primary cilium, as components of either the transition zone or the retrograde intraflagellar transport IFT-A complex, where they control ciliary protein trafficking and modulate responses to various signaling pathways. In this review, we summarize the current literature on nephronophthisis-related disease genetics and outline the essential pathophysiological mechanisms underlying these disorders.

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肾病的遗传基础和致病机制
肾病是一种隐性囊性肾病,属于纤毛病。大多数致病基因产物定位于初级纤毛,作为过渡区或逆行纤毛内运输IFT-A复合物的组成部分,在那里它们控制纤毛蛋白的运输并调节对各种信号通路的反应。在这篇综述中,我们总结了目前有关肾肾病相关疾病遗传学的文献,并概述了这些疾病的基本病理生理机制。
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