Associated Papers
New approaches to standard of care in early-phase myeloproliferative neoplasms: can interferon-α alter the natural history of the disease?
Pasquier F et al.
Haematologica, 2025
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
Sochorcova L et al.
British Journal of Haematology, 2023
Mutations, inflammation and phenotype of myeloproliferative neoplasms.
Hermouet S
Frontiers in Oncology, 2023
Developmental changes in iron metabolism and erythropoiesis in mice with human gain-of-function erythropoietin receptor.
Kralova B et al.
American Journal of Hematology, 2022
Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review.
Lo Riso L et al.
Genes, 2022
An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2V617F myeloproliferative neoplasms.
Rabadan Moraes G et al.
British Journal of Haematology, 2022
Mutation profile of JAK2, EPOR and CALR genes in polycythemia patients.
Anbinselvam A et al.
Blood Cells, Molecules & Diseases, 2020
Pre-B acute lymphoblastic leukaemia recurrent fusion, EP300-ZNF384, is associated with a distinct gene expression.
McClure BJ et al.
British Journal of Cancer, 2018
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C et al.
Human Mutation, 2014
Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies.
Le Couedic JP et al.
Blood, 1996
Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia.
Sokol L et al.
Experimental Hematology, 1994
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