Article
Mutations in MC4R facilitate the angiogenic activity in patients with orbital venous malformation.
Experimental biology and medicine (Maywood, N.J.) - 1 Jun 2020
Huang Xiao-Ming, Yang Wan-Chen, Liu Yang, Tang Dong-Run, Wu Tong, Sun Feng-Yuan
Abstract excerpt
IMPACT STATEMENT: The detailed molecular mechanism of orbital venous malformation (OVM) is still not clear. Using whole exome sequencing, 4 types of melanocortin 4 receptor (MC4R) mutation were detected in 7 of 27 patients with OVM, and all types of MC4R mutations resulted in the upregulation of MC4R expression. In vitro study indicated that MC4R has impacts on the proliferation, cell cycle, migration, and tube...
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