Article
Functional consequences of C-terminal mutations in RUNX2.
Scientific reports - 27 Jul 2023
Thaweesapphithak Sermporn, Theerapanon Thanakorn, Rattanapornsompong Khanti, Intarak Narin, Kanpittaya Pimsiri, Trachoo Vorapat, Porntaveetus Thantrira, Shotelersuk Vorasuk
Abstract excerpt
Cleidocranial dysplasia (CCD) is a genetic disorder caused by mutations in the RUNX2 gene, affecting bone and teeth development. Previous studies focused on mutations in the RUNX2 RHD domain, with limited investigation of mutations in the C-terminal domain. This study aimed to investigate the functional consequences of C-terminal mutations in RUNX2. Eight mutations were analyzed, and their effects on...
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