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YÜCESAN, EMRAH

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EMRAH
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Type: Article × Start date: 2020 × End date: 2022 ×

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Now showing 1 - 10 of 23
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    Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.
    (2020-05-05T00:00:00Z) Aslanger, AD; Goncu, B; Demiral, E; Sonmez-Sahin, S; Guler, S; Yucesan, Emrah; Iscan, A; Saltik, S; Yesil, G; GÖNCÜ, BEYZA SERVET; YÜCESAN, EMRAH
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    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
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    PublicationOpen Access
    Investigating differential miRNA expression profiling using serum and urine specimens for detecting potential biomarker for early prostate cancer diagnosis
    (2021-02-08T00:00:00Z) Hasanoğlu, Sevde; Göncü, Beyza Servet; Yücesan, Emrah; Atasoy, Sezen; Kayali, Yunus; Özten Kandaş, Nur; GÖNCÜ, BEYZA SERVET; YÜCESAN, EMRAH; ATASOY, SEZEN
    Background/aim: MicroRNAs (miRNAs) are known up-to-date candidate biomarkers for several diseases. In addition, obtaining miRNA from different body fluids such as serum, plasma, saliva, and urine is relatively easy to handle. Herein we aimed to detect miRNAs as biomarkers for early stage prostate cancer (PC). For this purpose, we used urine and serum samples to detect any significant differences in miRNA profiles between patients and healthy controls. Materials and methods: Total ribonucleic acid (RNA) in urine and serum samples were isolated from eight untreated PC patients, thirty healthy individuals were screened for miRNA profile, and candidate miRNAs were validated. Whole urinary and serum miRNA profile was analyzed using Affymetrix GeneChip miRNA 4.0 Arrays. Candidate miRNAs were investigated by stem-loop reverse transcription- polymerase chain reaction. Results: When we analyzed the urinary samples of PC patients, 49 miRNAs were detected to be upregulated and 14 miRNAs were found to be downregulated when compared with healthy controls. According to the serum samples, 19 miRNAs were found to be upregulated, and 21 miRNAs were found to be downregulated when compared with healthy individuals as well. Interestingly, we detected only four overlapping miRNAs (MIR320A, MIR4535, MIR4706, MIR6750) that commonly increase or decrease in both serum and urine samples. Among them, MIR320A was found to be downregulated, and MIR4535, MIR4706, and MIR6750 were found to be upregulated for urine samples. However, only MIR6750 was upregulated and the other three miRNAs were downregulated for serum samples. Conclusion: Notably, the expression profile of MIR320A was significantly altered in urine specimens of prostate cancer patients. We considered that MIR320A has been evaluated as a valuable biomarker that can be used in the early diagnosis of PC.
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    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
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    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.
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    Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.
    (2020-07-01T00:00:00Z) Niestroj, LM; Perez-Palma, E; Howrigan, DP; Zhou, Y; Cheng, F; Saarentaus, E; Nürnberg, P; Stevelink, R; Daly, MJ; Palotie, A; Lal, D; Epi25, Collaborative; YÜCESAN, EMRAH
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    Hücre Mikroenkapsülasyonunda Manuel ve Kapsülasyon Sisteminin Hücre İzolasyon Tipi ve Aljinat Yüzdesine Bağlı Verimliliğinin Karşılaştırılması
    (2021-08-01T00:00:00Z) Düzenli, Ömer Faruk; Göncü, Beyza Servet; Selepcioğlu, Harika; Yücesan, Emrah; Ersoy, Yeliz Emine; Akçakaya, Adem; GÖNCÜ, BEYZA SERVET; YÜCESAN, EMRAH; ERSOY, YELIZ EMINE; AKÇAKAYA, ADEM
    Amaç: Birçok endüstriyel sektörde kullanılan polimer malzemeler sağlık bilimlerinde de farklı işlemlerde kullanılmaktadır. Bu işlemlerden biri olan enkapsülasyon sistemi hücre nakli gibi terapötik uygulamalarda tercih edilmektedir. Enkapsülasyon çalışmalarında uygulanacak yaklaşıma göre kapsül yapısında kullanılacak polimer malzeme ve oluşan kapsül boyutu değişmektedir. Aljinat, kahverengi alglerden elde edilen, içeriğindeki farklı polimerik blok oranlarına bağlı olarak değişiklik gösteren doğal polimerlerden biridir. Bu çalışmada, kapsülasyon aşaması için kullanılacak olan değişik aljinat yüzdeleri uygulanarak paratiroid hücrelerinde ideal mikroenkapsülasyon prosedürlerinin belirlenmesi amaçlanmaktadır.Gereç ve Yöntem: Çalışmada sekonder hiperparatiroidi hastasından alınan bir adet paratiroid hiperplazi dokusundan mekanik ve enzimatik izolasyon yöntemleriyle hücre eldesi gerçekleştirilmiştir. İki farklı aljinat yüzdesi kullanarak hem manuel olarak hem de kapsülasyon cihazında otomatize olarak iki farklı akış hızı değerlendirilmiştir. Mikroenkapsüle edilen hücreler 64-79 gün boyunca in vitro olarak parathormon miktarları ölçülerek takip edilmiştir.Bulgular: Değerlendirilen aljinat yüzdelerinden %2’lik konsantrasyona sahip mikroenkapsüllerin oluşturulmasında kapsülasyon cihazında kullanılan 2 mL/dk akış hızıyla morfolojik stabilite gözlenmiştir. Ayrıca parathormon salınımı açısından hücre izolasyon tipi ve aljinat yüzdeleri arasında benzer sonuçlar elde edilmiştir.Sonuç: Uzun süreli mikroenkapsülasyon verimliliğinin arttırılması için yapısal ve fonksiyonel açıdan birçok parametrenin belirlenmesi gerekmektedir. Bu çalışma ile enzimatik izolasyon metoduyla elde edilen paratiroid hücrelerinin kapsülasyon sistemi kullanılarak artan akış hızında daha stabil bir yapı oluşturdukları belirlenmiştir.
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    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
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    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.
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    Copy-number variations in adult patients with chronic immune thrombocytopenia
    (2020-09-01T00:00:00Z) Yücesan, Emrah; Ng, Ozden Hatirnaz; Yalniz, Fevzi Firat; Yilmaz, Hulya; Salihoglu, Ayse; Sudutan, Tugce; Eşkazan, Ahmet Emre; Ongoren, Seniz; Baslar, Zafer; Soysal, Teoman; Ozbek, Ugur; Sayitoglu, Muge; Ar, M. Cem; YÜCESAN, EMRAH
    Objectives Immune thrombocytopenia (ITP) is an autoimmune disease with heterogeneous background. FCGR2C mutations were defined in one third of the patients but genetic players have not been fully elucidated yet. Although childhood ITP present as benign, ITP in adulthood is chronic disease with treatment challenges. This study aimed to focus on adult ITP patients using a whole genome genotyping that is valuable approach to identify the responsible genomic regions for the disease. Methods Herein 24 adult primary-refractory for ITP patients were evaluated using HumanCytoSNP12BeadChip,Illumina. Forty-six age and sex matched healthy individuals, and ptients awith nonhematological conditions were analyzed as controls. Identified CNV regions were verified by qRTPCR. T-cell receptor beta and delta (TCRB/TCRG) clonality were assessed by heteroduplex analysis in mosaic cases. Results Several CNV losses and gains were defined (losses:2q,7q,17q,19p, and gains: 1q,2p,3q,4q,7q,10q,12p,13q,14q,15q,17p,20q,21p,22q,Xp). Mosaic changes of different sizes (0.2-17.77Mb) were identified in five patients and three of them showed clonality. CNV regions that were unique to ITP patients were identified for the first time and among these genes, those related to immune regulation, and cellular trafficking were noteworthy. Conclusion: Identified CNV regions harbor several candidate genes, the functions of which might shed light on the pathogenesis of chronic ITP.