The molecular and cellular basis of Apert syndrome

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概要

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• 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, well focus on these problems to get a better understanding of AS pathogenesis.

• 特定非営利活動法人 バイオ＆ソーシャル・サイエンス推進国際研究交流会の論文

特定非営利活動法人 バイオ＆ソーシャル・サイエンス推進国際研究交流会 | 論文

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