https://hdl.handle.net/20.500.12294/2425 PubMed Indexed Publications Collection 2026-04-12T06:59:26Z https://hdl.handle.net/20.500.12294/4140 RB1 gene mutations and genetic spectrum in retinoblastoma cases Odemis, Demet Akdeniz; Kebudi, Rejin; Bayramova, Jamila; Erciyas, Seda Kilic; Turkcan, Gozde Kuru; Tuncer, Seref Bugra; Erdogan, Ozge Sukruoglu; Celik, Betul; Gultaslar, Busra Kurt; Bay, Sema Buyukkapu; Tuncer, Samuray; Yazici, Hulya The aim of the study was to investigate the frequency and types of mutations on the retinoblastoma gene (RB1 gene) in Turkish population. RB1 gene mutation analysis was performed in a total of 219 individuals (122 probands with retinoblastoma, 14 family members with retinoblastoma and 83 clinically healthy family members). All 27 exons and close intronic regions of the RB1 gene were sequenced for small deletions and insertions using both the Sanger sequencing or NGS methods, and the large deletions and duplications were investigated using the MLPA analysis and CNV algorithm. The bilateral/trilateral retinoblastoma rate was 66% in the study population. The general frequency of RB1 gene mutation in the germline of the patients with retinoblastoma was 41.9%. Approximately 51.5% of the patients were diagnosed earlier than 12 months old, and de novo mutation was found in 32.4% of the patients. Germline small genetic rearrangement mutations were detected in 78.9% of patients and LGRs were detected in 21.1% of patients. An association was detected between the eye color of the RB patients and RB1 mutations. 8 of the mutations detected in the RB1 gene were novel in the study. 2024-01-01T00:00:00Z https://hdl.handle.net/20.500.12294/4136 Clarification of red grape juice by amine-functionalized magnesium silica aerogel Kara, Ilkay Turhan; Yucel, Sevil; Arici, Muhammet The clarification conditions and the selection of the clarification agent are pivotal in eliminating the haze components from red grape juice (RGJ) while minimizing the loss of functional color components. In this context, we synthesized a water glass-based APTES functionalized magnesium silica aerogel (MSA-NH 3 ) incorporating 61.44 molecules/nm 2 of amine groups, resulting in a positively charged zeta potential value of 33.9 mV (pH 3.4) for clarification of RGJ by targeting negatively charged polyphenols. The optimum clarification conditions using MSA-NH 3 were determined as 0.18 g MSA-NH 3 /L RGJ, 20 degrees C, and 60 min through the application of BoxBehnken design. Under these conditions, MSA-NH 3 exhibited excellent adsorption of haze components (3.61 NTU), outperforming the commercial bentonite-gelatine combination (BGC) (5.45 NTU). Furthermore, it exhibited greater efficacy in preserving anthocyanins while adsorbing browning components. MSA-NH 3 has a high potential to serve as a functional alternative clarification agent in the beverage industry due to its promising clarification performance. 2024-01-01T00:00:00Z https://hdl.handle.net/20.500.12294/4135 High Expression of miR-218-5p in the Peripheral Blood Stream and Tumor Tissues of Pediatric Patients with Sarcomas Ozdenoglu, Fazilet Yildiz; Odemis, Demet Akdeniz; Erciyas, Seda Kilic; Tuncer, Seref Bugra; Gultaslar, Busra Kurt; Salduz, Ahmet; Buyukkapu, Sema; Olgac, Necat Vakur; Kebudi, Rejin; Yazici, Hulya Sarcomas are malignant tumors that may metastasize and the course of the disease is highly aggressive in children and young adults. Because of the rare incidence of sarcomas and the heterogeneity of tumors, there is a need for non-invasive diagnostic and prognostic biomarkers in sarcomas. The aim of the study was to investigate the level of miR-218-5p in peripheral blood and tumor tissue samples of Ewing's sarcoma, osteosarcoma, spindle cell sarcoma patients, and healthy controls, and assessed whether the corresponding molecule was a diagnostic and prognostic biomarker. The study was performed patients (n = 22) diagnosed and treated with Ewing's sarcoma and osteosarcoma and in a control group of 22 healthy children who were matched for age, gender, and ethnicity with the patient group. The expression level of miR-218-5p in RNA samples from peripheral blood and tissue samples were analyzed using the RT-PCR and the expression level of miR-218-5p was evaluated by comparison with the levels in patients and healthy controls. The expression level of miR-218-5p was found to be statistically higher (3.33-fold, p = 0.006) in pediatric patients with sarcomas and when the target genes of miR-218-5p were investigated using the bioinformatics tools, the miR-218-5p was found as an important miRNA in cancer. In this study, the miR-218-5p was shown for the first time to have been highly expressed in the peripheral blood and tumor tissue of sarcoma patients. The results suggest that miR-218-5p can be used as a diagnostic and prognostic biomarker in sarcomas and will be evaluated as an important therapeutic target. 2024-01-01T00:00:00Z https://hdl.handle.net/20.500.12294/4133 Comparison of microRNA expression levels in patients with schizophrenia before and after electroconvulsive therapy Saglam, Nazife Gamze Usta; Duz, Mehmet Bugrahan; Yilmaz, Seda Salman; Ozen, Mustafa; Balcioglu, Ibrahim ObjectiveExploring the role of microRNAs in the antipsychotic efficacy of electroconvulsive therapy (ECT) will contribute to understanding the underlying mechanism through which ECT exerts its therapeutic effects. The primary objective of this study was to identify microRNA alterations before and after ECT in patients with schizophrenia.MethodsWe compared microarray-based microRNA profiles in peripheral blood from eight patients with schizophrenia before and after ECT and eight healthy controls. Then, we aimed to validate selected differentially expressed microRNAs in 30 patients with schizophrenia following a course of ECT, alongside 30 healthy controls by using quantitative reverse-transcription PCR.ResultsMicroarray-based expression profiling revealed alterations in 681 microRNAs when comparing pre- and post-ECT samples. Subsequent quantitative reverse-transcription PCR analysis of the selected microRNAs (miR-20a-5p and miR-598) did not reveal any statistical differences between pre- and post-ECT samples nor between pre-ECT samples and those of healthy controls.ConclusionAs neuroepigenetic studies on ECT are still in their infancy, the results reported in this study are best interpreted as exploratory outcomes. Additional studies are required to explore the potential epigenetic mechanisms underlying the therapeutic efficacy of ECT. 2024-01-01T00:00:00Z