Person: SÜSGÜN, SEDA
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Publication 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 Blefarospazm Olgularinda miRNA Alt Tipleri Ekspresyon Düzeylerinin İncelenmesi ve Aday Biyobelirteç Tayini(2024-01-01) Yaman Kula A.; Korkmaz N. D.; Düzenli Ö. F.; Yozlu M.; Kaya Güleç Z. E.; Yabacı Tak A.; Toruntay C.; Süsgün S.; Genç G.; Savrun F.; et al.; YAMAN KULA, ASLI; KORKMAZ, NUR DAMLA; YABACI TAK, AYŞEGÜL; SÜSGÜN, SEDA; MATUR, ZELİHAss1Publication İzole servikal distonilerde THAP1, GNAL, KMT2B ve ANO3 genlerine etkiyen miRNA’ların anlatımlarının incelenmesi ve aday biyobelirteç belirlenmesi(2021-12-01T00:00:00Z) Gelişin, Özlem; Süsgün, Seda; Toruntay, Ceyhun; Yabacı Tak, Ayşegül; Baran, Gözde; Gürsoy, Azize Esra; Babacan Yıldız, Gülsen; Yücesan, Emrah; GELİŞİN, ÖZLEM; SÜSGÜN, SEDA; TORUNTAY, CEYHUN; YABACI TAK, AYŞEGÜL; GÜRSOY, AZIZE ESRA; YÜCESAN, EMRAHPublication 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 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 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 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 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 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 Biallelic NALCN variant detected by homozygosity mapping and whole exome sequencing in a consanguineous family from Turkey(2020-06-06T00:00:00Z) Süsgün, Seda; Yücesan, Emrah; Kocatürk, Özcan; Çalık, Mustafa; Özbek, Uğur; Uğur İşeri, Sibel Aylin; SÜSGÜN, SEDA; YÜCESAN, EMRAH
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