Associated Papers
Assessment of HIF2α mutational pathogenicity using microscale thermophoresis.
Ferens FG et al.
Biology Methods & Protocols, 2026
GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.
Ikeuchi H et al.
Oncogene, 2024
39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6
Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.
Ferens FG et al.
Communications Biology, 2024
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
Clinical manifestations of Pacak-Zhuang syndrome in a male pediatric patient.
Abdallah A et al.
Pediatric Blood & Cancer, 2020
The VHL/HIF Axis in the Development and Treatment of Pheochromocytoma/Paraganglioma.
Peng S et al.
Frontiers in Endocrinology, 2020
A Transgenic Mouse Model of Pacak⁻Zhuang Syndrome with An Epas1 Gain-of-Function Mutation.
Wang H et al.
Cancers, 2019
Nonmosaic somatic HIF2A mutations associated with late onset polycythemia-paraganglioma syndrome: Newly recognized subclass of polycythemia-paraganglioma syndrome.
Pang Y et al.
Cancer, 2019
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
Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.
Crona J et al.
Plos One, 2015
Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.
Buffet A et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.
Crona J et al.
Plos One, 2014
HIF2 and endocrine neoplasia: an evolving story.
Maher ER
Endocrine-related Cancer, 2013
New syndrome of paraganglioma and somatostatinoma associated with polycythemia.
Pacak K et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2013
Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas.
Yang C et al.
Blood, 2013
Select a paper to view details