SHIH-KAI WANGZhang, HongHongZhangYIN-LIN WANGHUNG-YING LINSeymen, FigenFigenSeymenKoruyucu, MineMineKoruyucuWright, J TimothyJ TimothyWrightKim, Jung-WookJung-WookKimSimmer, James PJames PSimmerHu, Jan C-CJan C-CHu2024-01-232024-01-232023-0801432885https://scholars.lib.ntu.edu.tw/handle/123456789/638833Biallelic 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.enBMP signalling; amelogenesis imperfecta; biomineralization; homeostasis; soft tissue calcification; stem cell[SDGs]SDG3journal article10.1111/iej.13928371591862-s2.0-85159302273https://api.elsevier.com/content/abstract/scopus_id/85159302273