Medina-Martinez Olga, Jamrich Milan
Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
Development. 2007 Apr;134(8):1455-63. doi: 10.1242/dev.000117. Epub 2007 Mar 7.
The recent identification of a mutation in Foxe3 that causes congenital primary aphakia in humans marks an important milestone. Congenital primary aphakia is a rare developmental disease in which the lens does not form. Previously, Foxe3 had been shown to play a crucial role in vertebrate lens formation and this gene is one of the earliest integrators of several signaling pathways that cooperate to form a lens. In this review, we highlight recent advances that have led to a better understanding of the developmental processes and gene regulatory networks involved in lens development and disease.
最近在人类中发现的一种导致先天性无晶状体的Foxe3基因突变标志着一个重要的里程碑。先天性无晶状体是一种罕见的发育性疾病，其中晶状体无法形成。此前，已证明Foxe3在脊椎动物晶状体形成中起关键作用，并且该基因是协同形成晶状体的几种信号通路的最早整合者之一。在这篇综述中，我们重点介绍了最近的进展，这些进展使我们对晶状体发育和疾病所涉及的发育过程和基因调控网络有了更好的理解。
