Journal of Tissue Engineering and Reconstructive Surgery ›› 2016, Vol. 12 ›› Issue (5): 322-324.doi: 10.3969/j.issn.1673-0364.a460

• Review • Previous Articles     Next Articles

GNAQ M utations in P ort-W ine S tains

ZHU Jiafang,YUWenxin,MA Gang,LIN Xiaoxi   

  1. Department of Plastic and Reconstructive Surgery,Shanghai Ninth People's Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200011,China.Corresponding author:LIN Xiaoxi E-mail:linxiaoxi@126.com).
  • Published:2020-07-23
  • Contact: 国家自然科学基金面上项目（81272127）；上海市卫生系统重要疾病联合攻关重点项目（2013ZYJB0014）。

Abstract: G-alpha-q （GNAQ） is the alpha subunit of the heterotrimeric GTP-binding proteins that mediates the regulators of several downstream signaling through coupling cell surface receptors. Recently, lesions within port-wine stains are found harbor mutations in GNAQ p.Arg183 and may at least associate with ERK （extracellular signal-regulated kinase） signaling pathways. In this paper, the mutations of GNAQ within port-wine stains and the multiple activated signaling targets downstream of mutant GNAQ, including MAPK, RGS5, PKC and YAP pathways were reviewed.

Key words: Port-wine stains, Guanine nucleotide binding protein q polypeptide, Mitogen-activated protein kinase, Regulator of G protein signaling 5, Protein kinase C

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