Article

Functional impact of pathogenic Runt domain mutations in <i>Runx2</i> on skeletal and dental development in cleidocranial dysplasia

2025-06-21

Abstract excerpt

Runt-related transcription factor 2 (RUNX2) is essential for skeletogenesis, and mutations in its gene cause cleidocranial dysplasia (CCD), an autosomal dominant skeletal disorder. The evolutionarily conserved 128-amino acid Runt homology domain (RHD) of human RUNX2 is essential for DNA binding and heterodimerization, and serves as a mutation hotspot associated with severe CCD phenotypes. To elucidate the function...

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Literature Corpus work: 18c5dede-8bf2-54e4-8139-d5573384bccd
DOI: 10.1101/2025.06.18.660258

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