The molecular and cellular basis of Apert syndrome
作者单位：Shandong Academy of Medical SciencesShandong Medical Biotechnology CenterKey Laboratory for Biotech-Drugs of the Ministry of Health
会议名称：《第八届全国医学生物化学与分子生物学第五届全国临床应用生物化学与分子生物学2013华东六省一市生物化学与分子生物学联合学术研讨会》
会议日期：2013年
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
关 键 词：Apert syndrome Fgfr2 Osteoblast pathogenesis
摘 要：Apert syndrome(AS) is an autosomal dominant *** by craniosynostosis,midface hypoplasia,and severe syndactyly of the hands and feet,with a prevalence of 1 in 65,000 *** patients generally require lifelong multidisciplinary *** the last several *** studies have been done to gain a better understanding of molecular basis of the *** balance between the proliferation,differentiation and apoptosis of osteoblasts is essential for the cranial bone and limb *** fgfr2 gain-of-function mutation(S252 W and P253 R) which caused most Apert syndromes alter the *** this ***’ll focus on how the mutated fgfr2 change the balance and their signal *** will provide us a new insight into the pathogenesis of the Apert syndrome.