|
Erythrocytosis familial, 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hereditary erythrocytosis is associated with high oxygen affinity hemoglobin variants (HOAs), 2,3-bisphosphoglycerate deficiency and abnormalities in EPOR and the oxygen-sensing pathway proteins PHD, HIF2α, and VHL.
|
29790589 |
2018 |
|
Erythrocytosis familial, 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing analyses were performed on six genes associated with hereditary erythrocytosis [HBB, exon 2 and exon 3 of HBA2, VHL, EGLN1 (previously PHD2), exon 12 of EPAS1 (previously HIF2A), and exons 5-8 of EPOR].
|
24482100 |
2014 |
|
Erythrocytosis familial, 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
This study provides a novel experimental system to study polycythaemia-inducing mutations in the EPOR, and sheds new light on underlying mechanisms of EPOR over-activation in PFCP patients.
|
24533580 |
2014 |
|
Erythrocytosis familial, 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.
|
17488692 |
2007 |
|
Erythrocytosis familial, 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in the erythropoietin receptor (EPOR) gene account for only about 15% of cases of primary congenital erythrocytosis.
|
17488692 |
2007 |
|
Erythrocytosis familial, 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
These findings suggest that both tyrosine residues Y285 and Y344 in the cytoplasmic domain of EPOR-ME may contribute to increased Epo sensitivity that is characteristic of PFCP phenotype.
|
15878737 |
2005 |
|
Erythrocytosis familial, 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis.
|
11929803 |
2002 |
|
Erythrocytosis familial, 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The finding of only five disease-causing mutations in our PFCP patient pool of 43 subjects (12%) indicates that EPOR gene mutations are not the major genetic defect associated with PFCP.
|
11559951 |
2001 |
|
Erythrocytosis familial, 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
We show that cells engineered to concomitantly express the wild-type (WT) EPOR and mutant EPORs associated with FE (FE EPORs) are hypersensitive to EPO-stimulated proliferation and activation of Jak2 and Stat5.
|
10498627 |
1999 |
|
Erythrocytosis familial, 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results suggest a role for Stat5 in regulation of Epo-mediated cell growth and implicate altered kinetics of Epo-induced Jak2 and Stat5 activation in the pathogenesis of familial erythrocytosis associated with this naturally occurring EpoR gene mutation.
|
9923445 |
1999 |
|
Erythrocytosis familial, 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial erythrocytosis, associated with high haemoglobin levels and low serum erythropoietin (Epo), has been shown to co-segregate with a sequence repeat polymorphism at the 5' region of the erythropoietin receptor (EpoR) in a large Finnish family.
|
9488636 |
1998 |
|
Erythrocytosis familial, 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the erythropoietin receptor has been demonstrated to cause familial polycythemia, but no mutations have been found in PV.
|
9121771 |
1997 |
|
Erythrocytosis familial, 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene.
|
9192789 |
1997 |
|
Erythrocytosis familial, 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies.
|
8608241 |
1996 |
|
Erythrocytosis familial, 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Alterations of the EPO/EPO-R system have recently been shown to be involved in the pathogenesis of familial erythrocytosis and polycythaemia vera (PV).
|
7819104 |
1994 |
|
Erythrocytosis familial, 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.
|
8506290 |
1993 |
|
Erythrocytosis familial, 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.
|
8506290 |
1993 |
|
Erythrocytosis familial, 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Erythrocytosis familial, 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In summary, we show that primary familial and congenital polycythemia is more complex than expected since distinct mechanisms are involved in the erythropoietin hypersensitivity phenotype, according to the type of erythropoietin receptor mutation.
|
29269524 |
2018 |
|
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Human gain-of-function EPOR (mtHEPOR) causes fetal polycythemia in knock-in mice.
|
26706855 |
2016 |
|
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
All of these rearrangements result in truncation of the cytoplasmic tail of EPOR at residues similar to those mutated in primary familial congenital polycythemia, with preservation of the proximal tyrosine essential for receptor activation and loss of distal regulatory residues.
|
26859458 |
2016 |
|
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study provides a novel experimental system to study polycythaemia-inducing mutations in the EPOR, and sheds new light on underlying mechanisms of EPOR over-activation in PFCP patients.
|
24533580 |
2014 |
|
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Consequently, these aspects of EPOR biology are not well defined, nor are actions of polycythemia- associated mutated EPOR alleles.
|
22253704 |
2012 |
|
Polycythemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the erythropoietin receptor gene associated with primary familial and congenital polycythaemia.
|
21437635 |
2011 |