Associated Papers
Elucidating loss-of-function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort.
Zhang J et al.
British Journal of Haematology, 2025
Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.
Ferens FG et al.
Communications Biology, 2024
A novel germline gain-of-function HIF2A mutation in hepatocellular carcinoma with polycythemia.
Yu J et al.
Aging, 2020
HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.
Tarade D et al.
Nature Communications, 2018
New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas.
Toledo RA
Endocrine-related Cancer, 2017
Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.
Buffet A et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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