Article
TMEM53 as an outer nuclear membrane regulator of cranial and tubular bone formation in craniotubular dysplasia.
Journal of human genetics - 1 May 2026
Ren Kaitao, Fu Yiyang, Zhu Jinhui, Liu Wanqi, Han Yuxin, Zhang Shuying, Zhang Xiaorui, Chen Mingyue, Xia Congcong, Sun Kexin, Xiao Dan, Liu Yuan, Wang Lin, Qiang Rong, Shukunami Chisa, Girisha Katta M, Ikegawa Shiro, Guo Long
Abstract excerpt
Transmembrane protein 53 (TMEM53) is an outer nuclear membrane protein that plays a crucial role in maintaining skeletal homeostasis. Pathogenic variants in TMEM53 have been identified as the genetic cause of craniotubular dysplasia, Ikegawa type (CTDI), a rare form of sclerosing bone dysplasia characterized by skull hyperostosis, cranial deformities, and increased bone density. To date, the causal association of...
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