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Congenital erythrocytosis.
Mallik N, Das R, Malhotra P, Sharma P. Mallik N, et al. Eur J Haematol. 2021 Jul;107(1):29-37. doi: 10.1111/ejh.13632. Epub 2021 Apr 23. Eur J Haematol. 2021. PMID: 33840141 Review.
In hypoxic conditions, failure of prolyl hydroxylation leads to stabilization of HIF and activation of the EPO gene. CE has been found to be caused by loss-of-function mutations in VHL and PHD2/EGLN1 as well as gain-of-function mutations in HIF-2alpha (EPAS1) …
In hypoxic conditions, failure of prolyl hydroxylation leads to stabilization of HIF and activation of the EPO gene. CE has been foun …
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.
Vočanec D, Prijatelj T, Debeljak N, Kunej T. Vočanec D, et al. Int J Lab Hematol. 2019 Apr;41(2):162-167. doi: 10.1111/ijlh.12949. Epub 2018 Dec 3. Int J Lab Hematol. 2019. PMID: 30507031 Free PMC article. Review.
Familial erythrocytosis (FE) is a congenital disorder with different genetic background. Type 1 FE is primary FE caused by mutation in erythropoietin receptor gene (EPOR). Type 2-5 FE are secondary FEs caused by mutations of genes involved in oxygen sensing p …
Familial erythrocytosis (FE) is a congenital disorder with different genetic background. Type 1 FE is primary FE caused by mutation i …
Hereditary erythrocytosis, thrombocytosis and neutrophilia.
Hong WJ, Gotlib J. Hong WJ, et al. Best Pract Res Clin Haematol. 2014 Jun;27(2):95-106. doi: 10.1016/j.beha.2014.07.002. Epub 2014 Jul 18. Best Pract Res Clin Haematol. 2014. PMID: 25189721 Review.
Some patients with primary hereditary erythrocytosis exhibit a mutation in the erythropoietin receptor (EPOR) which is associated with low serum erythropoietin (EPO) levels. ...Hereditary thrombocytosis was first linked to mutations in genes encoding t …
Some patients with primary hereditary erythrocytosis exhibit a mutation in the erythropoietin receptor (EPOR) which is associa …