Associated Papers
Successful Use of Targeted HIF-2α Inhibition in EPAS1-Mutated Congenital Erythrocytosis.
Ensink E et al.
Pediatric Blood & Cancer, 2025
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
Integration and Visualization of Regulatory Elements and Variations of the EPAS1 Gene in Human.
Kristan A et al.
Genes, 2021
A novel germline gain-of-function HIF2A mutation in hepatocellular carcinoma with polycythemia.
Yu J et al.
Aging, 2020
Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases.
Kristan A et al.
European Journal of Haematology, 2019
HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.
Tarade D et al.
Nature Communications, 2018
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C et al.
Human Mutation, 2014
The role of PHD2 mutations in the pathogenesis of erythrocytosis.
Gardie B et al.
Hypoxia (auckland, N.z.), 2014
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
Perrotta S et al.
Haematologica, 2013
HIF2 and endocrine neoplasia: an evolving story.
Maher ER
Endocrine-related Cancer, 2013
Erythrocytosis associated with a novel missense mutation in the HIF2A gene.
van Wijk R et al.
Haematologica, 2010
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