A Transgenic Mouse Model of Pacak–Zhuang Syndrome with An Epas1 Gain-of-Function Mutation

@inproceedings{Wang2019ATM,
  title={A Transgenic Mouse Model of Pacak–Zhuang Syndrome with An Epas1 Gain-of-Function Mutation},
  author={Herui Wang and Jing Yan Cui and Chunzhang Yang and Jared S Rosenblum and Qi Zhang and Qi Song and Ying Pang and Francia Fang and Mitchell Sun and Pauline Dmitriev and Morris D. Groves and Graeme Eisenhofer and Karel Pacak and Zhengping Zhuang},
  booktitle={Cancers},
  year={2019}
}
We previously identified a novel syndrome in patients characterized by paraganglioma, somatostatinoma, and polycythemia. In these patients, polycythemia occurs long before any tumor develops, and tumor removal only partially corrects polycythemia, with recurrence occurring shortly after surgery. Genetic mosaicism of gain-of-function mutations of the EPAS1 gene (encoding HIF2α) located in the oxygen degradation domain (ODD), typically p.530-532, was shown as the etiology of this syndrome. The… CONTINUE READING