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Genes (15)
Species: human : 15 | |
Human | EGLN1 | 54583 | egl-9 family hypoxia-inducible factor 1 | See also erythrocytosis 1 (ECYT1, {133100}) Genetic defects are first frameshift and nonsense mutations reported in PHD2 gene and suggest that a decreased prolyl hydroxylase activity disturbing the oxygen-sensing pathway might be the cause of erythrocytosis PHD2 mutation is associated with abnormal erythrocytosis | Human | VHL | 7428 | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase | See also erythrocytosis 1 (ECYT1, {133100}) | Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | Title:Angiotensin-converting enzyme gene polymorphism significantly affects renal posttransplantation erythrocytosis.|Association:Not Found|Conclusion:While previous studies revealed a relation between angiotensin II and PE, our study discovered the contribution of ACE gene polymorphism. | Human | MPL | 4352 | myeloproliferative leukemia virus oncogene | MPL gene mutations were not associated with erythrocytosis, but segregated primarily with the phenotypes of thrombocytosis, extramedullary disease, myelofibrosis, and osteosclerosis | Human | JAK2 | 3717 | Janus kinase 2 | results suggest for polycythemia vera, erythrocytosis can occur through 2 mechanisms: terminal erythroid amplification triggered by JAK2 617V>F homozygosity & a 2-step process including the upstream amplification of heterozygous cells | Human | HIF1A | 3091 | hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) | conclude that the loss of iron-regulatory syste is not the course of erythrocytosis We describe a family with erythrocytosis and a mutation in the HIF2A gene, which encodes the HIF-2alpha protein. this mutation leads to stabilization of the HIF-2alpha protein and suggest that wild-type HIF-2alpha regulates erythropoietin production | Human | HBB | 3043 | hemoglobin, beta | Point mutations reported for two new variant associated with erythrocytosis; quaternary protein structures and oxygen binding are discussed | Human | HBA1 | 3039 | hemoglobin, alpha 1 | A Lys to Asn substitution at codon 40 is reported for a new variant (Hb Saratoga Springs) associated with erythrocytosis; quaternary protein structure and oxygen binding are discussed | Human | EPOR | 2057 | erythropoietin receptor | new mutations in the erythropoietin receptor gene may have a role in pure erythrocytosis | Human | EPO | 2056 | erythropoietin | The impact of Epo overexpression in mice and the resulting excessive erythrocytosis in the neural control of normoxic and hypoxic ventilation is reported | Human | EPAS1 | 2034 | endothelial PAS domain protein 1 | the HIF2A(M535I) gene mutation could induce hereditary erythrocytosis at a young age | Human | ACE | 1636 | angiotensin I converting enzyme | Male sex and angiotensin I-converting enzyme D allele increase the risk of post transplan erythrocytosis in post renal transplant patients Title:Angiotensin-converting enzyme gene polymorphism significantly affects renal posttransplantation erythrocytosis.|Association:Y|Conclusion:While previous studies revealed a relation between angiotensin II and PE, our study discovered the contribution of ACE gene polymorphism. ACE polymorphism was determined, to see whether genotypes affect the response rate of hematocrit to enalapril treatment in patients with kidney transplant erythrocytosis Logistic regression analysis revealed that polymorphisms are significant risk factors for posttransplantation erythrocytosis in kidney transplantation | Human | AGTR2 | 186 | angiotensin II receptor, type 2 | Title:Angiotensin-converting enzyme gene polymorphism significantly affects renal posttransplantation erythrocytosis.|Association:Y|Conclusion:While previous studies revealed a relation between angiotensin II and PE, our study discovered the contribution of ACE gene polymorphism. | Human | AGTR1 | 185 | angiotensin II receptor, type 1 | Title:Angiotensin-converting enzyme gene polymorphism significantly affects renal posttransplantation erythrocytosis.|Association:Not Found|Conclusion:While previous studies revealed a relation between angiotensin II and PE, our study discovered the contribution of ACE gene polymorphism. | Human | AGT | 183 | angiotensinogen (serpin peptidase inhibitor, clade A, member 8) | Title:Angiotensin-converting enzyme gene polymorphism significantly affects renal posttransplantation erythrocytosis.|Association:Not Found|Conclusion:While previous studies revealed a relation between angiotensin II and PE, our study discovered the contribution of ACE gene polymorphism. |
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