WoS İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/20.500.12573/394
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Conference Object Understanding the Role of FAM120A Gene in a Neurodevelopmental Disorder(Springernature, 2024) Sezer, Abdullah; Pucak, Damla; Cevik, Sebiha; Kaplan, Oktay I.Conference Object Is the Homozygous Mutation Pattern Reminding Uniparental Disomy on DHCR7 Gene Responsible for Smith-Lemli (SLO) Syndrome(Springernature, 2024) Kosem, Zeyneb Berrin; Sunar, Ilknur; Demircioglu, Ayse Sena; Akarsu, Rukiye; Gencay, Ismail; Akalin, IbrahimConference Object Is the Homozygous Mutation Pattern Reminding Uniparental Disomy on DHCR7 Gene Responsible for Smith-Lemli-Opitz (SLO) Syndrome(Springernature, 2024) Kosem, Zeyneb Berrin; Sunar, Ilknur; Demircioglu, Ayse Sena; Akarsu, Rukiye; Gencay, Ismail; Akalin, IbrahimConference Object ConVarT: A New Search Engine for Orthologous Variants for Functional Inference of Human Genetic Variants(Springernature, 2022) Pir, Mustafa S.; Bilgin, Halil I.; Sayici, Ahmet; Coskun, Fatih; Torun, Furkan M.; Zhao, Pei; Kaplan, Oktay I.Conference Object Citation - WoS: 1CC2D1A as a Novel Ciliopathy Gene(Springernature, 2020) Sakin, I.; Tuncel, G.; Sag, S. Ozemri; Kaplan, O. I.; Khokha, M. K.; Ergoren, M. C.; Temel, S. G.Article Citation - WoS: 16Citation - Scopus: 11An Empirical Study of Sentiment Analysis Utilizing Machine Learning and Deep Learning Algorithms(Springernature, 2023-12-09) Erkantarci, Betul; Bakal, GokhanAmong text-mining studies, one of the most studied topics is the text classification task applied in various domains, including medicine, social media, and academia. As a sub-problem in text classification, sentiment analysis has been widely investigated to classify often opinion-based textual elements. Specifically, user reviews and experiential feedback for products or services have been employed as fundamental data sources for sentiment analysis efforts. As a result of rapidly emerging technological advancements, social media platforms such as Twitter, Facebook, and Reddit, have become central opinion-sharing mediums since the early 2000s. In this sense, we build various machine-learning models to solve the sentiment analysis problem on the Reddit comments dataset in this work. The experimental models we constructed achieve F1 scores within intervals of 73-76%. Consequently, we present comparative performance scores obtained by traditional machine learning and deep learning models and discuss the results.Article Citation - WoS: 1Citation - Scopus: 1A Comprehensive MicroRNA-seq Transcriptomic Analysis of Tay-Sachs Disease Mice Revealed Distinct miRNA Profiles in Neuroglial Cells(Springernature, 2025-08-09) Kaya, Beyza; Orhan, Mehmet Emin; Yanbul, Selman; Demirci, Muserref Duygu Sacar; Demir, Secil Akyildiz; Seyrantepe, VolkanTay-Sachs disease (TSD) is a rare lysosomal storage disorder marked by the progressive buildup of GM2 in the central nervous system (CNS). This condition arises from mutations in the HEXA gene, which encodes the alpha subunit of the enzyme beta-hexosaminidase A. A newly developed mouse model for early-onset TSD (Hexa-/-Neu3-/-) exhibited signs of neurodegeneration and neuroinflammation, evidenced by elevated levels of pro-inflammatory cytokines and chemokines, as well as significant astrogliosis and microgliosis. Identifying disease-specific MicroRNAs (miRNAs) may aid the development of targeted therapies. Although previous small-scale studies have investigated miRNA expression in some regions of GM2 gangliosidosis mouse models, thorough profiling of miRNAs in this innovative TSD model remains to be done. In this study, we employed next-generation sequencing to analyze the complete miRNA profile of neuroglial cells from Hexa-/-Neu3-/- mice. By comparing KEGG and Reactome pathways associated with neurodegeneration, neuroinflammation, and sphingolipid metabolism in Hexa-/-Neu3-/- neuroglial cells, we discovered new MicroRNAs and their targets related to the pathophysiology of GM2 gangliosidosis. For the first time, our findings showed that miR-708-5p, miR-672-5p, miR-204-5p, miR-335-5p, and miR-296-3p were upregulated, while miR-10 b-5p, miR-615-3p, miR-196a-5p, miR-214-5p, and miR-199a-5p were downregulated in Hexa-/-Neu3-/- neuroglial cells in comparison to age-matched wild-type (WT). These specific changes in miRNA expression deepen our understanding of the disease's neuropathological characteristics in Hexa-/-Neu3-/- mice. Our study suggests that miRNA-based therapeutic strategies may improve clinical outcomes for TSD patients.
