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SÜSGÜN, SEDA

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Now showing 1 - 10 of 10
  • PublicationMetadata 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, SEDA
  • PublicationMetadata 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, AYŞEGÜL
  • PublicationMetadata 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, SEDA
    Intracellular 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.
  • PublicationMetadata 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, SEDA
  • PublicationOpen 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, EMRAH
    Background: 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.
  • PublicationMetadata 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, EMRAH
  • PublicationMetadata 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, EMRAH
    Objective: 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.
  • PublicationOpen Access
    The utility of serum microRNA-93 and microRNA-191 levels for determination of injury severity in adults with multiple blunt trauma
    (2020-12-01T00:00:00Z) Sogut, Ozgur; Metiner, Merve; Kaplan, Onur; Calık, Mustafa; Cakmak, Sumeyye; Umit, Tugba Betul; Ergenc, Huseyin; Akbas, Fahri; Süsgün, Seda; AKBAŞ, FAHRİ; SÜSGÜN, SEDA
    BACKGROUND: Various scoring systems have been developed to determine the trauma severity and prognosis of patients following multiple blunt trauma (MBT). However, these scoring systems do not provide exactly the desired severity assessment. In recent years, serum concentration of many specific miRNAs, especially for head trauma, has been shown to play an important role in determining the diagnosis, severity and prognosis of injury. To date, however, no studies have investigated serum microRNAs in patients with MBT. Thus, this study measured the expression of miRNA-93 and -191 in the serum of adults with MBT and examined the correlations of Injury Severity Score (ISS) and Revised Trauma Score (RTS) values with serum miRNA-93 and -191 levels in these patients with the aim of predicting trauma severity based on the miRNA levels.METHODS: This prospective case–control study enrolled 50 consecutive adults with MBT and age- and sex-matched 60 healthy controls. The patients were divided into ISS >16 (group 1, major or severe trauma) and ISS ≤16 (group 2, minor or mild-moderate trauma) groups. Serum miRNA-93 and -191 levels were assessed using quantitative real-time reverse transcription-PCR. We evaluated whether the miRNAs were differentially expressed in major and minor MBT patients and determined their utility for assessing the severity of injury.RESULTS: The mean serum miRNA-93 and -191 levels were significantly elevated in the patients compared to the controls and were higher in patients with ISS >16 compared to those with ISS ≤16, although the difference was not significant. In the patients with multitrauma, ISS was significantly, negative and weak correlated with serum miRNA-191 level (rho = –0.320, p = 0.023) but not with the serum miRNA-93 level. No optimal cutoff for the serum miRNA-93 level was found with respect to trauma severity (AUC 0.617, [0.455–0.779]). However, an optimal cutoff value for serum miRNA-191 was identified, with values <1.94 indicating severe trauma (AUC 0.668 [0.511–0.826]; 65.6% sensitivity, 77.8% specificity).CONCLUSION: miRNA-191 and -93 levels were significantly upregulated in multitrauma patients compared to controls. The level of miRNA-191 in conjunction with ISS, but not that of miRNA-93, may be a useful biomarker for determining injury severity in patients with multitrauma.
  • PublicationOpen Access
    Fibromiyalji Sendromu ile Bağırsak Mikrobiyotası Arasındaki İlişkinin Araştırılması
    (2021-03-01T00:00:00Z) Albayrak, Büşra; Süsgün, Seda; Küçükakkaş, Okan; Akbaş, Fahri; Yabacı, Ayşegül; Özçelik, Semra; SÜSGÜN, SEDA; KÜÇÜKAKKAŞ, OKAN; AKBAŞ, FAHRİ; YABACI TAK, AYŞEGÜL; ÖZÇELİK, SEMRA
    Fibromiyalji sendromu (FMS), yetişkin popülasyonda bildirilen prevalansı %3-10 olan, kronik yaygın ağrının sık görülen formlarından biridir. Tipik ağrının klinik görünümü ve ilişkili somatik ve psikolojik semptomların varlığı tanıya temel oluşturur. FMS sinir sistemi disfonksiyonu ile ilişkilidir ve nörotransmitterler fibromiyalji için onaylanmış bir dizi ilacın hedefi olarak rol oynamaktadır. Bununla birlikte, FMS’de altta yatan mekanizmalar kesin olarak henüz bilinmemekle birlikte birçok hipotez ortaya konmuştur. Fibromiyalji ve irritabl bağırsak sendromu (IBS) arasındaki ilişki göz önüne alındığında, değişen bağırsak mikrobiyomu fibromiyalji ile ilişkili olabilir. Bu çalışmada, FMS tanılı hastalarda sağlıklı kontrollere göre değişen bağırsak mikrobiyom düzeylerinin araştırılması amaçlanmıştır. Mikrobiyom çalışması için FMS tanılı 54 hastadan ve 36 sağlıklı kişiden oluşan kohorttan fekal örnekler toplanmıştır. Kontrol grubunda herhangi bir mental ve/veya fiziksel hastalığı olanlar çalışma dışında bırakılmıştır. FMS’li hasta grubu, -American College of Rheumatology (ACR)- 2010 tanı kriterlerine bağlı kalınarak belirlenmiştir. Fekal örnekler, kullanılana kadar -80°C’de muhafaza edilmiş ve buz üzerinde çözülmüş; her ekstraksiyon için 0.3 g feçes tartılmıştır. DNA izolasyonu, ticari kit ile üreticinin protokolüne uygun olarak gerçekleştirilmiştir. Örnekler, gerçek zamanlı polimeraz zincir yöntemi ile Bacteroidetes, Firmicutes, Enterobacter, Lactobacillus, Streptococcus ve Bifidobacterium’a özgül primerler ile 16S rRNA gen amplifikasyonu yapılarak karşılaştırılmıştır. Sonuçlara göre, hasta grubunda Bacteroidetes ve Bifidobacterium istatistiksel olarak anlamlı bir şekilde artarken (p< 0.05), Firmicutes’in azaldığı saptanmıştır (p< 0.001). Enterobacter, Streptococcus ve Lactobacillus için istatistiksel olarak anlamlı sonuç bulunamamıştır (p> 0.05). Bakteriler arasındaki ilişki değerlendirildiğinde, Bacteroidetes ile Firmicutes yüzdesi arasında istatistiksel olarak yüksek anlamlı ve negatif korelasyon bulunurken (r= -0.778, p< 0.001), Enterobacter ve Bifidobacterium yüzdesi arasında orta derecede istatistiksel anlamlılık ve pozitif korelasyon gözlenmiştir (r= 0.460, p= 0.005). Sonuçlar, bağırsak mikrobiyotasının fibromiyaljide rol oynayabileceğini göstermektedir. Bağırsaktaki Firmicutes ve Bacteroidetes filumlarının dengesinin bağırsak homeostazı için önemli etkilere sahip olduğu bilinmektedir. Özetle, daha büyük kohortlarda yapılacak büyük ölçekli araştırmaların, bağırsak mikrobiyomu ve FMS arasındaki ilişkiyi anlamada ve olası tedavi seçeneklerini değerlendirmede etkili olacağı açıktır.
  • PublicationMetadata only
    Effects of Methylprednisolone in the Treatment of Spinal Cord Injuries by Evaluation of microRNA-21: An Experimental Study.
    (2022-04-19T00:00:00Z) Abdallah, Anas; Tekin, Abdurrahim; Oztanir, Mustafa Namik; Süsgün, Seda; Yabacı, AYŞEGÜL; Çınar, İrfan; Can, Engin; Tokar, Sadık; Akbaş, Fahri; Seyithanoğlu, Mehmet Hakan; SÜSGÜN, SEDA; YABACI TAK, AYŞEGÜL; AKBAŞ, FAHRİ; SEYİTHANOĞLU, MEHMET HAKAN