Article
Functional impact of pathogenic mutations in the runt homology domain of mouse Runx2 on skeletal and dental phenotypes in cleidocranial dysplasia.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 24 Jul 2026
Ogawa Saki, Higuchi Shinnosuke, Yoshimoto Yuki, Hoshino Mari, Miura Shigenori, Hamada Atsuko, Watanabe Hitomi, Sakuma Tetsushi, Hu Kadi, Ogata Shun, Uchibe Kenta, Fujimoto Katsumi, Yamamoto Takashi, Okamoto Tetsuji, Kunimatsu Ryo, Sotomaru Yusuke, Tanimoto Kotaro, Kondoh Gen, Komori Toshihisa, Docheva Denitsa, Shukunami Chisa
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...
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