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DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.

Yanmeng LiAnjian XuQin OuyangWei ZhangChunpan ZhangZhibin ChenDonghu ZhouBei ZhangWeijia DuanXinyan ZhaoXiaoming WangHong YouXiaojuan OuJidong JiaJian Huang
Published in: Hepatology international (2023)
The DENND3 p.L708V activating variant down-regulates hepcidin expression through the DENND3/RAB12/TFR2 axis, which may represent a potential novel pathogenic factor of HH.
Keyphrases
  • signaling pathway
  • pi k akt
  • poor prognosis
  • induced apoptosis
  • epithelial mesenchymal transition
  • human health
  • cell proliferation
  • oxidative stress
  • risk assessment