Associated Papers
Nuclear speckles regulate functional programs in cancer.
Alexander KA et al.
Nature Cell Biology, 2025
Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.
Ferens FG et al.
Communications Biology, 2024
The BMAL1/HIF2A heterodimer modulates circadian variations of myocardial injury.
Ruan W et al.
Research Square, 2024
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
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Cytoplasmic HIF-2α as tissue biomarker to identify metastatic sympathetic paraganglioma.
Karakaya S et al.
Scientific Reports, 2023
High-Altitude Andean H194R HIF2A Allele Is a Hypomorphic Allele.
Jorgensen K et al.
Molecular Biology and Evolution, 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
HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.
Tarade D et al.
Nature Communications, 2018
Hif-2α promotes degradation of mammalian peroxisomes by selective autophagy.
Walter KM et al.
Cell Metabolism, 2014
Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.
Welander J et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
Perrotta S et al.
Haematologica, 2013
Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation.
Tan Q et al.
The Journal of Biological Chemistry, 2013
In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.
Toledo RA et al.
Endocrine-related Cancer, 2013
Transcriptional regulation of endochondral ossification by HIF-2alpha during skeletal growth and osteoarthritis development.
Saito T et al.
Nature Medicine, 2010
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
Percy MJ et al.
The New England Journal of Medicine, 2008
Identification of membrane type-1 matrix metalloproteinase as a target of hypoxia-inducible factor-2 alpha in von Hippel-Lindau renal cell carcinoma.
Petrella BL et al.
Oncogene, 2005
Inhibition of hypoxia-inducible factor is sufficient for growth suppression of VHL-/- tumors.
Zimmer M et al.
Molecular Cancer Research : Mcr, 2004