Mizuho Kittaka, Noriyoshi Mizuno, Hiroyuki Morino, Tetsuya Yoshimoto, Tianli Zhu, Sheng Liu, Ziyi Wang, Kotoe Mayahara, Kyohei Iio, Kaori Kondo, Toshio Kondo, Tatsuhide Hayashi, Sarah Coghlan, Yayoi Teno, Andrew Anh Phung Doan, Marcus Levitan, Roy B Choi, Shinji Matsuda, Kazuhisa Ouhara, Jun Wan, Annelise M Cassidy, Stephane Pelletier, Sheela Nampoothiri, Andoni J Urtizberea, Alexander G Robling, Mitsuaki Ono, Hideshi Kawakami, Ernst J Reichenberger, Yasuyoshi Ueki
Cherubism (OMIM 118400) is a rare craniofacial disorder in children characterized by destructive jawbone expansion due to the growth of inflammatory fibrous lesions. Our previous studies have shown that gain-of-function mutations in SH3 domain-binding protein 2 (SH3BP2) are responsible for cherubism and that a knock-in mouse model for cherubism recapitulates the features of cherubism, such as increased osteoclast formation and jawbone destruction. To date, SH3BP2 is the only gene identified to be responsible for cherubism...
June 2024: JBMR Plus