Intractable & Rare Diseases Research
Online ISSN : 2186-361X
Print ISSN : 2186-3644
ISSN-L : 2186-3644
Reviews
The molecular and cellular basis of Apert syndrome
Chao LiuYazhou CuiJing LuanXiaoyan ZhouJinxiang Han
Author information
JOURNAL FREE ACCESS

2013 Volume 2 Issue 4 Pages 115-122

Details
Abstract

Apert syndrome (AS) is a rare genetic and congenital disease characterized by craniosynostosis and syndactly of hands and feet. AS patients generally require lifelong management, however there are still no effective treatment methods except surgery. In recent years, research has made great progress in the pathogenesis of AS. FGFR2 mediates extracellular signals into cells and the mutations in the FGFR2 gene cause AS occurrence. Activated FGFs/FGFR2 signaling disrupt the balance of cell proliferation, differentiation and apoptosis via its downstream signal pathways. However, how the pathways transform the balance is not well understood and contradictions have occurred in different studies. In this review, we'll focus on these problems to get a better understanding of AS pathogenesis.

Information related to the author
© 2013 International Research and Cooperation Association for Bio & Socio-Sciences Advancement
Previous article Next article
feedback
Top