Article
Expression of an active Gαs mutant in skeletal stem cells is sufficient and necessary for fibrous dysplasia initiation and maintenance.
Proceedings of the National Academy of Sciences of the United States of America - 16 Jan 2018
Zhao Xuefeng, Deng Peng, Iglesias-Bartolome Ramiro, Amornphimoltham Panomwat, Steffen Dana J, Jin Yunyun, Molinolo Alfredo A, de Castro Luis Fernandez, Ovejero Diana, Yuan Quan, Chen Qianming, Han Xianglong, Bai Ding, Taylor Susan S, Yang Yingzi, Collins Michael T, Gutkind J Silvio
Abstract excerpt
Fibrous dysplasia (FD) is a disease caused by postzygotic activating mutations of GNAS (R201C and R201H) that encode the α-subunit of the Gs stimulatory protein. FD is characterized by the development of areas of abnormal fibroosseous tissue in the bones, resulting in skeletal deformities, fractures, and pain. Despite the well-defined genetic alterations underlying FD, whether GNAS activation is sufficient for FD...
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