Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease.
Xiaoli LiDingwei ZhangJiahui DingLi LiZhenghui WangPublished in: BMC medical genetics (2020)
In our study, we found four mutations in HHD. Meanwhile we found increase of miR-203 level and a decrease of p63 and HKII levels. In addition, Notch1, which was negatively regulated p63, is downregulated. These factors may be involved in the signaling pathways of HHD pathogenesis. Our data showed that both p63 and miR-203 may have significant regulatory effects on Notch1 in the skin.
Keyphrases
- cell proliferation
- long non coding rna
- end stage renal disease
- long noncoding rna
- transcription factor
- newly diagnosed
- ejection fraction
- chronic kidney disease
- signaling pathway
- prognostic factors
- big data
- patient reported outcomes
- machine learning
- wound healing
- epithelial mesenchymal transition
- endoplasmic reticulum stress