Person: YÜCESAN, EMRAH
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Publication 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 Nano- and Micro-Encapsulation Techniques and Applications(2021-01-01T00:00:00Z) Göncü, Beyza Servet; Yücesan, Emrah; GÖNCÜ, BEYZA SERVET; YÜCESAN, EMRAHMicroencapsulation has been the most frequently used technique for several different disciplines such as cell-based therapies and/or transplantation. Technology is based on the idea of combining and coating material or isolating it from an external source. Microencapsulation may be performed with different materials and, among natural biocompatible materials, alginate-based microencapsulation technique is the most appropriate material for microencapsulation. The structural components of alginate materials are the derivatives of alginic acid, which is found in brown algae as an intercellular gel matrix. This alginate is preferred for clinical applications due to its safety in human studies. Therefore, the choice and the combined system need to be carefully optimized to achieve biocompatible application through cell microencapsulation especially for long term. Specifications of alginate such as primary source, isolation process, viscosity, and purity contribute to improve its biocompatibility. Clinically, cell microencapsulation is the major contribution to the field of transplantation by its technique and additionally provides local immune isolation. This chapter discusses the potential benefits of clinically suitable alginates and their applications. This promising technology may highlight its considerable potential for patients that require transplantation and/or replacement therapy in the future.Publication Metadata only 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, 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 Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy(2020-12-01T00:00:00Z) Servet Göncü, Beyza; Aslanger, Ayça Dilruba; Özgül, Cemil; Hasanoğlu, Sevde; Yeşil Sayın, Gözde; YÜCESAN, EMRAH; GÖNCÜ, BEYZA SERVETIntroduction: KCNMA1 encodes, the alpha subunit of the voltage, and calcium-sensitive potassium channel, predominantly expressed in the central nervous system. Therefore abnormal function in this gene may occur neurological conditions.Materials and Methods: We report 15-year-old patient who was born at term with healthy conditions. Motor signals were delayed, and also seizures started at the age of 18 months. EEG revealed generalized spike-wave activities. Brain MRI performed, atrophy of the cerebellum was detected. Recent clinical examination; contractures on the large joints, and dyskinetic tremor. Whole exome sequencing (WES) was performed and in-slico analyses were conducted. MCF7 and 293T cells transfected with either wild-type or mutant expression vectors. Cellular distribution was determined by immunofluorescence. Functional analysis was performed using electrophysiological approach based on whole-cell patch-clamp.Results: WES revealed homozygous variation (NM_001161352.1:c.1372C>T, p.Arg458Ter). The variant was not observed in publicly available or in-house databases. Immunofluorescent staining revealed that novel variant is not interfering with the synthesis of KCNMA1 however mutation exhibit dominant-negative effect on cell viability when compared to wild-type. 293T and MCF7 cells transfected with homozygous p.Arg458Ter mutation showed markedly increased KCNMA1 currents compared to controls on patch-clamp recording, and these data support loss-of-function effect of all KCNMA1 mutants.Conclusions: Herein we report a 15-year old boy who has neurological conditions. A novel homozygous stop-gain mutation detected by WES and confirmed by conventional sequencing. Afterward, functional characterization was conducted using two step-approach, immunostaining to detect subcellular effect of the variation and patch-clamp to detect a difference between mutant vs. wild-type of the protein. Homozygous mutation was considered as causative for this clinical condition. This study was supported by Bezmialem Vakif University, Scientific Research Projects Unit, Project No:2.2019/7.Publication Metadata only Sıcak Su Epilepsisine Neden Olan Varyantların Tüm Ekzom Dizileme Yaklaşımı ile İncelenmesi.(2021-12-22T00:00:00Z) Düzenli, Ömer Faruk; Salman, Barış; Yücesan, Emrah; Şirin, Görkem; Baykal, Betül; Uğur İşeri, Sibel Aylin; Bebek, Nerses; YÜCESAN, EMRAHPublication Open 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, SEZENBackground/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.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.