A novel HIF2A mutation causes dyslipidemia and promotes hepatic lipid accumulation

• Main Authors: Feiqiong Gao (Author), Qigu Yao (Author), Jiaqi Zhu (Author), Wenyi Chen (Author), Xudong Feng (Author), Bing Feng (Author), Jian Wu (Author), Karel Pacak (Author), Jared Rosenblum (Author), Jiong Yu (Author), Zhengping Zhuang (Author), Hongcui Cao (Author), Lanjuan Li (Author)
• Format: Book
• Published: Elsevier, 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Hypoxia-inducible factor-2α (HIF-2α) is a transcription factor responsible for regulating genes related to angiogenesis and metabolism. This study aims to explore the effect of a previously unreported mutation c.C2473T (p.R825S) in the C-terminal transactivation domain (CTAD) of HIF-2α that we detec...