Cutaneous and Hepatic Vascular Lesions Due to a Recurrent Somatic GJA4 Mutation Reveal a Pathway for Vascular Malformation

By
Justin.choi
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The authors found that the mutant induced changes in cell morphology and activated SGK1, a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation.
[HGG Advances]
Ugwu, N., Atzmony, L., Ellis, K., Panse, G., Jain, D., Ko, C. J., Nassiri, N., & Choate, K. A. (2021). Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation. Human Genetics and Genomics Advances, 0(0). https://doi.org/10.1016/j.xhgg.2021.100028 Cite
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