Associated Papers
Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.
Ferens FG et al.
Communications Biology, 2024
38418569 (PubMed )
Supplement: 42003_2024_5904_MOESM2_ESM.pdf
Somatic EPAS1 Variants in Pheochromocytoma and Paraganglioma in Patients With Sickle Cell Disease.
White G et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V et al.
Haematologica, 2023
Structural basis for the allosteric inhibition of hypoxia-inducible factor (HIF)-2 by belzutifan.
Ren X et al.
Molecular Pharmacology, 2022
Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.
Kamihara J et al.
The New England Journal of Medicine, 2021
The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.
Kolonko-Adamska M et al.
International Journal of Molecular Sciences, 2021
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
Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma.
Welander J et al.
Endocrine-related Cancer, 2014
Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male.
Toyoda H et al.
Pediatrics, 2014
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