Article
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
Nature communications - 6 Apr 2021
Guo Long, Iida Aritoshi, Bhavani Gandham SriLakshmi, Gowrishankar Kalpana, Wang Zheng, Xue Jing-Yi, Wang Juan, Miyake Noriko, Matsumoto Naomichi, Hasegawa Takanori, Iizuka Yusuke, Matsuda Masashi, Nakashima Tomoki, Takechi Masaki, Iseki Sachiko, Yambe Shinsei, Nishimura Gen, Koseki Haruhiko, Shukunami Chisa, Girisha Katta M, Ikegawa Shiro
Abstract excerpt
Bone formation represents a heritable trait regulated by many signals and complex mechanisms. Its abnormalities manifest themselves in various diseases, including sclerosing bone disorder (SBD). Exploration of genes that cause SBD has significantly improved our understanding of the mechanisms that regulate bone formation. Here, we discover a previously unknown type of SBD in four independent families caused by...
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