Article
A CRISPR-engineered swine model of COL2A1 deficiency recapitulates altered early skeletal developmental defects in humans.
Bone - 1 Aug 2020
Zhang Boyan, Wang Chenyu, Zhang Yue, Jiang Yuan, Qin Yanguo, Pang Daxin, Zhang Guizhen, Liu He, Xie Zicong, Yuan Hongming, Ouyang Hongsheng, Wang Jincheng, Tang Xiaochun
Abstract excerpt
Loss-of-function mutations in the COL2A1 gene were previously described as a cause of type II collagenopathy (e.g., spondyloepiphyseal dysplasia, Stickler syndrome type I), a major subgroup of genetic skeletal diseases. However, the pathogenic mechanisms associated with COL2A1 mutations remain unclear, and there are few large-mammal models of these diseases. In this study, we established a swine model carrying...
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