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• W2079689214 abstract "The human erythropoietin receptor (EpoR) gene has been cloned and characterized. Very few EpoR genetic abnormalities have been reported so far. Polycythemia vera (PV) is characterized by low/normal serum erythropoietin (Epo) levels with proposed Epo hypersensitivity. Myelodysplastic syndromes (MDS) are characterized by refractory anemia with variable serum Epo levels. Several reports have suggested EpoR abnormalities in both types of stem cell disorders. We analyzed DNA obtained from peripheral blood mononuclear cells of seven healthy controls, 20 patients with myeloproliferative disorders (MPD, 11 patients with PV, five agnogenic myeloid metaplasia with myelofibrosis, four essential thrombocytosis) and eight patients with refractory anemia with ringed sideroblasts (RARS), an MDS variant. The DNA was digested with four restriction enzymes (BamHI, Bgl II, Sacl and HindIII), followed by Southern blot, using a 32P radiolabeled probe, containing 1.5 kb of the human EpoR cDNA. All 20 MPD patients and seven out of the eight MDS patients demonstrated a restriction pattern which was identical to the seven normal controls, as well as to the erythroid cell line K562, and also consistent with the expected restriction map, for all four enzymes tested. One RARS patient had a normal pattern with three enzymes but a different one with HindIII. The HindIII 12 kb large band was replaced by a faint 12 kb band and a new (about 9 kb) band appeared. The EpoR restriction map and the normal pattern obtained with the other three enzymes suggest that this patient has a 3 kb upstream deletion in one allelic EpoR gene. The same molecular pattern was detected in the patient's sister, who suffers from anemia with mild bone marrow (BM) dyserythropoiesis and plasmacytosis. Northern blot analysis showed that the patient's BM RNA carried normal EpoR message. This familial pattern may represent polymorphism. However, the patient's very high serum Epo level, her resistance to treatment with recombinant Epo, and the abnormally low growth rate of in vitro erythroid cultures, suggesting poor response to Epo in this MDS patient as well as the hematological abnormalities in her sister, support the speculation that the different EpoR gene might serve as a genetic predisposing marker and potentially could be involved (probably via post-transcriptional mechanisms and by an interaction with other factors or cytokines) in the pathogenesis. Our data suggest that the EpoR is intact in MPD and in most patients with RARS. One RARS patient had a familial different genetic structure, which could represent polymorphism. However, we can speculate also that it might be involved in the pathogenesis of the disease." @default.
• W2079689214 created "2016-06-24" @default.
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• W2079689214 date "1996-06-01" @default.
• W2079689214 modified "2023-10-18" @default.
• W2079689214 title "Analysis of the erythropoietin receptor gene in patients with myeloproliferative and myelodysplastic syndromes" @default.
• W2079689214 cites W1484213444 @default.
• W2079689214 cites W1484338222 @default.
• W2079689214 cites W1486152838 @default.
• W2079689214 cites W1486959216 @default.
• W2079689214 cites W1488565664 @default.
• W2079689214 cites W1544350757 @default.
• W2079689214 cites W1552585207 @default.
• W2079689214 cites W1580461258 @default.
• W2079689214 cites W1586781757 @default.
• W2079689214 cites W1752868247 @default.
• W2079689214 cites W1972927903 @default.
• W2079689214 cites W1974683237 @default.
• W2079689214 cites W1981258619 @default.
• W2079689214 cites W1983166974 @default.
• W2079689214 cites W1990716190 @default.
• W2079689214 cites W1993642530 @default.
• W2079689214 cites W1993662394 @default.
• W2079689214 cites W1995969368 @default.
• W2079689214 cites W200340920 @default.
• W2079689214 cites W2003882575 @default.
• W2079689214 cites W2012505338 @default.
• W2079689214 cites W2013904816 @default.
• W2079689214 cites W2015280048 @default.
• W2079689214 cites W2016528156 @default.
• W2079689214 cites W2022173105 @default.
• W2079689214 cites W2036952926 @default.
• W2079689214 cites W2043083873 @default.
• W2079689214 cites W2046986081 @default.
• W2079689214 cites W2049836784 @default.
• W2079689214 cites W2056154856 @default.
• W2079689214 cites W2063450941 @default.
• W2079689214 cites W2065549220 @default.
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• W2079689214 cites W2093602531 @default.
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• W2079689214 cites W2104022359 @default.
• W2079689214 cites W2130708019 @default.
• W2079689214 cites W2152306961 @default.
• W2079689214 cites W2154148872 @default.
• W2079689214 cites W2164742594 @default.
• W2079689214 cites W2218520695 @default.
• W2079689214 cites W2279415586 @default.
• W2079689214 cites W2285162332 @default.
• W2079689214 cites W2320069043 @default.
• W2079689214 cites W2338369943 @default.
• W2079689214 cites W2343239515 @default.
• W2079689214 cites W2395600057 @default.
• W2079689214 cites W2404328587 @default.
• W2079689214 cites W2419516014 @default.
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• W2079689214 cites W4242525454 @default.
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• W2079689214 cites W4254109957 @default.
• W2079689214 cites W4256003647 @default.
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• W2079689214 doi "https://doi.org/10.1016/0145-2126(96)00002-1" @default.
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• W2079689214 hasPublicationYear "1996" @default.
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