https://scholars.lib.ntu.edu.tw/handle/123456789/638833
標題: | FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome | 作者: | SHIH-KAI WANG Zhang, Hong YIN-LIN WANG Lin, Hung-Ying Seymen, Figen Koruyucu, Mine Wright, J Timothy Kim, Jung-Wook Simmer, James P Hu, Jan C-C |
關鍵字: | BMP signalling; amelogenesis imperfecta; biomineralization; homeostasis; soft tissue calcification; stem cell | 公開日期: | 八月-2023 | 卷: | 56 | 期: | 8 | 來源出版物: | International endodontic journal | 摘要: | Biallelic loss-of-function FAM20A mutations cause amelogenesis imperfecta (AI) type IG, better known as enamel renal syndrome (ERS), characterized by severe enamel hypoplasia, delayed/failed tooth eruption, intrapulpal calcifications, gingival hyperplasia and nephrocalcinosis. FAM20A binds to FAM20C, the Golgi casein kinase (GCK) and potentiates its function to phosphorylate secreted proteins critical for biomineralization. While many FAM20A pathogenic mutations have been reported, the pathogeneses of orodental anomalies in ERS remain to be elucidated. This study aimed to identify disease-causing mutations for patients with ERS phenotypes and to discern the molecular mechanism underlying ERS intrapulpal calcifications. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/638833 | ISSN: | 01432885 | DOI: | 10.1111/iej.13928 |
顯示於: | 牙醫學系 |
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