Associated Papers
Erythrocytosis-inducing PHD2 mutations implicate biological role for N-terminal prolyl-hydroxylation in HIF1α oxygen-dependent degradation domain.
Taber CC et al.
Elife, 2025
41114716 (PubMed )
Supplement: elife-107121-supp1.xlsx › Fig_1
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M et al.
Haematologica, 2023
37317877 (PubMed )
Supplement: 2023_282913_DELAMARE_SUPPL.pdf
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Bodaar K et al.
Leukemia, 2022
35411095 (PubMed )
Supplement: NIHMS1792675-supplement-Supplementary_Table_2.xlsx › Sheet_1
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.
Pouliot GP et al.
Plos One, 2019
31721781 (PubMed )
Supplement: pone.0221288.s012.xlsx › Sheet_1
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.
Burns MA et al.
Leukemia, 2018
29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
Oliveira JL et al.
American Journal of Hematology, 2018
Computational analysis of prolyl hydroxylase domain-containing protein 2 (PHD2) mutations promoting polycythemia insurgence in humans.
Minervini G et al.
Scientific Reports, 2016
Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics.
Wilson R et al.
Case Reports in Hematology, 2016
Hypoxia Pathway Mutations in Pheochromocytomas and Paragangliomas.
Amorim-Pires D et al.
Cytogenetic and Genome Research, 2016
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
Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia.
Ladroue C et al.
Haematologica, 2012
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