Person: SÜSGÜN, SEDA
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Publication Metadata only Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.(2022-04-01T00:00:00Z) Takahashi, Taiko; Mercan, Sevcan; Sassa, Takayuki; Akçapınar, Günseli Bayram; Yararbaş, Kanay; Süsgün, Seda; İşeri, Sibel Aylin Uğur; Kihara, Akio; Akçakaya, Nihan Hande; SÜSGÜN, SEDAPublication Metadata only DİRENÇLİ NÖBETLER VE KOGNİTİF YIKIM İLE SEYREDEN NADİR BİR METABOLİK-GENETİK NEDEN: SEREBRAL FOLİNİK ASİT EKSİKLİĞİ(2022-05-29T00:00:00Z) Gezegen, Haşim; Süsgün, Seda; Kesim, Yeşim; Salman, Barış; Yücesan, Emrah; Khalilov, Dovlat; Şirin İnan, Nermin Görkem; Gökçay, Gülden Fatma; Baykal, Betül; Uğur İşeri, Sibel Aylin; Bebek, Nerses; SÜSGÜN, SEDA; YÜCESAN, EMRAHPublication Metadata only Evaluation of miR-145 and miR-146a as potential biomarkers for diagnosis of Myelodysplastic Syndrome(2022-06-01T00:00:00Z) Süsgün, Seda; Baykara, Onur; Yücesan, Emrah; Kuru, Rahiye Dilhan; Aslaneli Çakmak, Başak; Yabacı Tak, Ayşegül; Öngören, Şeniz; Deviren, Ayhan; Argüden, Yelda; SÜSGÜN, SEDA; YÜCESAN, EMRAH; YABACI TAK, AYŞEGÜLPublication Metadata only MAPK6 genini hedefleyen siRNA yüklü PLGA nanopartiküllerinin meme kanseri hücre dizilerinde antikanser etkilerinin değerlendirilmesi(2022-11-23) TORUNTAY C.; POYRAZ F. Ş.; SÜSGÜN S.; YÜCESAN E.; MANSUROĞLU B.; SÜSGÜN, SEDAPublication Metadata only Calcium homeostasis in cisplatin resistant epithelial ovarian cancer.(2019-07-01) Kucukkaya, B; Basoglu, H; Erdag, D; Akbas, FAHRİ; Yalcintepe, L; AKBAŞ, FAHRİ; SÜSGÜN, SEDAIntracellular calcium concentration ([Ca2+](i)) may have an important role in the development of chemoresistance, which is an essential problem in cancer chemotherapy. Cisplatin (DDP), which modulates the intracellular calcium concentration by different mechanisms, is an antineoplastic agent with high success rate in cancer therapies. We investigated the regulatory role of [Ca2+]in cisplatin resistance in epithelial ovarian cancer cell line, in MDAH-2774, and its chemoresistant subclone MDAH-2774/DDP. The measurement of [Ca2+](i) using fluorescence microscope, and flow cytometry revealed that the amount of intracellular calcium decreased in cisplatin resistant cells compared to the amounts in parental cells. mRNA expression profiles of calcium homeostasis-associated major genes (IP(3)R1/2/3, RYR1/2, SERCA1/2/3, NCX1/2/3, PMCA1/2/3, and PMCA4) decreased in cisplatin resistant cell line in comparison to the expression profiles in parental cells. Owing to the changes in the expression of genes involved in calcium regulation, these results show, drug resistance may be prevented by introducing a new perspective on the use of inhibitors and activators of these genes, and thus of cytostatic treatment strategies, due to changes in the expression of genes involved in calcium regulation.Publication Metadata only The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.(2021-06-11T00:00:00Z) Haryanyan, Garen; Ozdemir, Ozkan; Tutkavul, Kemal; Dervent, Aysin; Ayta, Semih; Ozkara, Cigdem; Salman, Baris; Yucesan, Emrah; Kesim, Yesim; Susgun, Seda; Ozbek, Ugur; Baykan, Betul; Ugur Iseri, Sibel A; Bebek, Nerses; YÜCESAN, EMRAH; SÜSGÜN, SEDAPublication Metadata only Two candidate genes with biallelic variants associated with a neurodevelopmental disorder in a consanguineous family from Turkey(2022-06-11T00:00:00Z) Süsgün, Seda; Kesim, Yeşim; Salman, Barış; Yücesan, Emrah; Khalilov, Dovlat; Şirin İnan, Nermin Görkem; Gökçay, Gülden Fatma; Baykal, Betül; Bebek, Nerses; Uğur İşeri, Sibel Aylin; SÜSGÜN, SEDA; YÜCESAN, EMRAHPublication Open Access Gene Hunting Approaches through the Combination of Linkage Analysis with Whole-Exome Sequencing in Mendelian Diseases: From Darwin to the Present Day(2021-07-08T00:00:00Z) Susgun, Seda; Kasan, Koray; Yucesan, Emrah; SÜSGÜN, SEDA; YÜCESAN, EMRAHBackground: In the context of medical genetics, gene hunting is the process of identifying and functionally characterizing genes or genetic variations that contribute to disease phenotypes. In this review, we would like to summarize gene hunting process in terms of historical aspects from Darwin to now. For this purpose, different approaches and recent developments will be detailed. Summary: Linkage analysis and association studies are the most common methods in use for explaining the genetic background of hereditary diseases and disorders. Although linkage analysis is a relatively old approach, it is still a powerful method to detect disease-causing rare variants using family-based data, particularly for consanguineous marriages. As is known that, consanguineous marriages or endogamy poses a social problem in developing countries, however, this same condition also provides a unique opportunity for scientists to identify and characterize pathogenic variants. The rapid advancements in sequencing technologies and their parallel implementation together with linkage analyses now allow us to identify the candidate variants related to diseases in a relatively short time. Furthermore, we can now go one step further and functionally characterize the causative variant through in vitro and in vivo studies and unveil the variant-phenotype relationships on a molecular level more robustly. Key Messages: Herein, we suggest that the combined analysis of linkage and exome analysis is a powerful and precise tool to diagnose clinically rare and recessively inherited conditions.Publication Metadata only Assessment of miR-1179 As a Potential Biomarker in Juvenile Myoclonic Epilepsy(2022-03-01T00:00:00Z) Süsgün, Seda; Toruntay, Ceyhun; Bayrakoğlu, Alişan; Uslu, Ferda; Yücesan, Emrah; SÜSGÜN, SEDA; TORUNTAY, CEYHUN; BAYRAKOĞLU, ALİŞAN; USLU, FERDA; YÜCESAN, EMRAHPublication Metadata only Tek Basamaklı Ters Transkripsiyon Kantitatif PZR Yönteminin miRNA Ekspresyon Analizleri için Optimizasyonu(2021-08-01T00:00:00Z) Süsgün, Seda; Karacan, İlker; Yücesan, Emrah; SÜSGÜN, SEDA; YÜCESAN, EMRAHObjective: We aimed to investigate and optimize the one step reverse transcription quantitative polymerase chain reaction (RT-qP-CR) method for specific detection and quantitation of two selected microRNA (miRNA)s, namely hsa-miR-145-5p and hsa-miR-146a-5p. Material and Method: RNA was extracted from HEK293T cell line. Primers were designed and experimentally optimized to be compatible with with one step RT-qPCR method for two selected miRNAs. Targeted amplicons were visualized with agarose gel electrophoresis and sequenced using the Sanger method for specificity verification. Results: High specificity of one step RT-qPCR amplification was demonstrated using melt curve and agarose gel electrophoresis analyses for both miRNA targets. It was shown that the earliest cycle threshold (Ct) values were obtained at the annealing tem perature of 54°C. Also, target specificity was confirmed by conventional Sanger sequencing. Conclusion: In this study, one-step RT-qPCR design was optimized for both miRNA targets and target specificity was verified. Our study showed this approach to be a good candidate for miRNA detection and quantitation as a cost-effective alternative method. Furthermore, the approach is highly suitable for research projects as it is both low-cost and fast, involving less hands-on time.
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