title: The molecular and cellular basis of Apert syndrome.
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.
authors.affiliation: Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China; ; School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Science, Ji'nan, Shandong, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Liu
authors.affiliation: Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China;
authors.forename: Yazhou
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China;
authors.forename: Jing
authors.initials: J
authors.lastname: Luan
authors.affiliation: Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China;
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Zhou
authors.affiliation: Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China;
authors.forename: Jinxiang
authors.initials: J
authors.lastname: Han
keywords: Apert syndrome; FGFR2 gene; pathogenesis; signal pathways