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ABSTRACT: Adult onset Still's disease (ASD) is a systemic inflammatory disorder of unknown etiology. ASD is characterized by fever with unknown etiology, rash, arthritis, and involvement of several organ systems. FMF and TRAPS are two important autoinflammatory diseases which characterized with recurrent inflammatory attacks. We aimed in this study to investigate the MEFV gene and TNFRSF1A gene variations in ASD. Twenty consecutive Turkish ASD patients (14 female and 6 male; mean age 38.45 ± 14; mean disease duration 3.3 ± 2.3; mean age of the disease onset 35.1 ± 14.4) and 103 healthy controls of Turkish origin were analyzed. All ASD patients were genotyped for the 4 MEFV mutations (M694V, E148Q, V726A, M680I) and TNFRSF1A gene exon 2-3 and exon 4-5 by using sequence analysis. The healthy controls are genotyped using PCR-RFLP method for intron 4 variation. The results of MEFV gene mutations screening show an increase in the MEFV mutation rate in ASD group, but it was not significantly different (p = 0.442, OR 1.64, 95 % CI 0.409-6.589). T-C polymorphism (rs1800692) was the only variation in the intron 4 of TNFRSF1A gene that we observed at the ASD patients. The frequency of TT genotype was 15 %, TC: 45 %, and CC: 40 % in ASD patients and the frequencies were 22, 41, and 37 % in healthy controls, respectively. When we analyzed the allele difference between both groups, there was no difference (p = 0.54, OR 1.24, 0.619-2.496-2.654). The variations in MEFV may have role in ASD pathogenesis. Our findings suggest that there is no significant association between ASD and TNFRSF1A variations.
Rheumatology International 12/2012; · 1.88 Impact Factor
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Sema Sirma Ekmekci,
Cumhur G Ekmekci,
Ayten Kandilci,
Cagri Gulec,
Meral Akbiyik,
Zeliha Emrence,
Neslihan Abaci,
Zeynep Karakas,
Leyla Agaoglu,
Aysegul Unuvar,
Sema Anak,
Omer Devecioglu,
Duran Ustek,
Gerard Grosveld,
Ugur Ozbek
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ABSTRACT: The SET gene is a target of chromosomal translocations in acute leukemia and encodes a widely expressed multifunctional phosphoprotein. It has been shown that SET is upregulated in BCR-ABL1-positive cell lines, patient-derived chronic myeloid leukemia CD34-positive cells, and some solid tumors.
We determined the expression level of SET in 59 pediatric acute lymphoblastic leukemia patients who were BCR-ABL-negative using quantitative real-time reverse-transcriptase-polymerase chain reaction. Results. We showed that SET expression was significantly upregulated in 96.5% of B-acute lymphoblastic leukemia (28 of 29; 16.6 fold) and 93% of T-acute lymphoblastic leukemia (28 of 30; 47.6 fold) patients. This upregulation was not associated with any clinical features or overall and relapse-free survival.
Our results showed that SET is significantly overexpressed in pediatric acute lymphoblastic leukemia samples, and an increased level of SET might contribute to leukemic process.
Tumori. 03/2012; 98(2):252-6.
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ABSTRACT: ABSTRACT
The erythropoietin receptor (EpoR) and erythropoietin (Epo) mediate erythropoietin-induced erythroblast proliferation,
differentiation and survival. This study examined the effects of the expression of EpoR on K562 (erythroleukemia) cells upon
normoxia and hypoxia. In addition, the impact of the combined effect of recombinant human Epo and hypoxia was investigated.
K562 (erythroleukemia) cells and as control group HL60 (promyeloblast) cells were cultured. Hypoxic incubation was performed
with 5% O2, 5% CO2 and balance Nitrogen for 24 hours. After 24 hours, K562 and HL60 cells were transferred to normoxic and
5% hypoxic conditions. Recombinant Erythropoietin-alpha was added (10 U/ml) to the cells at the beginning of the experiment.
Cultured cells were subjected to viability analysis, total RNA isolation, and protein isolation at three timepoints: 3 h, 6 h, and
24 h. Viability was analysed with a trypan blue exclusion using the Vi-Cell automated cell viability system. RT-PCR and western
blot results of normoxic and hypoxic K562 and HL60 cell lines with/without rhEPO were compared.
We showed that hypoxia upregulates the expression of EpoR on K562 erythroleukemia cells, and longer exposition to hypoxia
turns the upregulated EpoR expression to basal levels. Recombinant human Epo (rhEpo) did not produce further impact in
hypoxia-induced upregulation of EpoR neither in normoxia nor in hypoxia. Although addition of the rhEpo caused change in
expression of cell-cycle regulators, it seems not to effect cell proliferation or cell viability. In the HL60 cell line, however, we
detected EpoR mRNA, but not Epo mRNA by RT-PCR. Hypoxia did not alter the level of EpoR mRNA expression.
The results of this study suggest that the expression of EpoR might be regulated by hypoxia, but not by Epo, and the expression
of cell-cycle regulators might be regulated by both hypoxia and Epo.
Biotechnology & Biotechnological Equipment 08/2011; 25(3):2508-2512. · 0.76 Impact Factor
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ABSTRACT: The erythropoietin receptor (EpoR) and erythropoietin (Epo) mediate erythropoietin-induced erythroblast proliferation, differentiation and survival. This study examined the effects of the expression of EpoR on K562 (erythroleukemia) cells upon normoxia and hypoxia. In addition, the impact of the combined effect of recombinant human Epo and hypoxia was investigated.
K562 (erythroleukemia) cells and as control group HL60 (promyeloblast) cells were cultured. Hypoxic incubation was performed with 5% O2, 5% CO2 and balance Nitrogen for 24 hours. After 24 hours, K562 and HL60 cells were transferred to normoxic and 5% hypoxic conditions. Recombinant Erythropoietin-alpha was added (10 U/ml) to the cells at the beginning of the experiment. Cultured cells were subjected to viability analysis, total RNA isolation, and protein isolation at three timepoints: 3 h, 6 h, and 24 h. Viability was analysed with a trypan blue exclusion using the Vi-Cell automated cell viability system. RT-PCR and western blot results of normoxic and hypoxic K562 and HL60 cell lines with/without rhEPO were compared.
We showed that hypoxia upregulates the expression of EpoR on K562 erythroleukemia cells, and longer exposition to hypoxia turns the upregulated EpoR expression to basal levels. Recombinant human Epo (rhEpo) did not produce further impact in hypoxia-induced upregulation of EpoR neither in normoxia nor in hypoxia. Although addition of the rhEpo caused change in expression of cell-cycle regulators, it seems not to effect cell proliferation or cell viability. In the HL60 cell line, however, we detected EpoR mRNA, but not Epo mRNA by RT-PCR. Hypoxia did not alter the level of EpoR mRNA expression.
The results of this study suggest that the expression of EpoR might be regulated by hypoxia, but not by Epo, and the expression of cell-cycle regulators might be regulated by both hypoxia and Epo
Biotechnology & Biotechnological Equipment. 01/2011; 25:2508-2512.
