Article
Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression.
International journal of molecular sciences - 25 Sept 2021
Dalle Carbonare Luca, Antoniazzi Franco, Gandini Alberto, Orsi Silvia, Bertacco Jessica, Li Vigni Veronica, Minoia Arianna, Griggio Francesca, Perduca Massimiliano, Mottes Monica, Valenti Maria Teresa
Abstract excerpt
Cleidocranial dysplasia (CCD), a dominantly inherited skeletal disease, is characterized by a variable phenotype ranging from dental alterations to severe skeletal defects. Either de novo or inherited mutations in the RUNX2 gene have been identified in most CCD patients. Transcription factor RUNX2, the osteogenic master gene, plays a central role in the commitment of mesenchymal stem cells to osteoblast lineage....
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