• Clinical Psychopharmacology and Neuroscience
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• v.16 no.4
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• pp.415-421
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• 2018

Objective: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature. Methods: Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Başkent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using real time polymerase chain reaction method. Results: No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found. Conclusion: Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey.

• Healthcare Informatics Research
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• v.24 no.4
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• pp.253-262
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• 2018

Objectives: We reviewed digital epidemiological studies to characterize how researchers are using digital data by topic domain, study purpose, data source, and analytic method. Methods: We reviewed research articles published within the last decade that used digital data to answer epidemiological research questions. Data were abstracted from these articles using a data collection tool that we developed. Finally, we summarized the characteristics of the digital epidemiological studies. Results: We identified six main topic domains: infectious diseases (58.7%), non-communicable diseases (29.4%), mental health and substance use (8.3%), general population behavior (4.6%), environmental, dietary, and lifestyle (4.6%), and vital status (0.9%). We identified four categories for the study purpose: description (22.9%), exploration (34.9%), explanation (27.5%), and prediction and control (14.7%). We identified eight categories for the data sources: web search query (52.3%), social media posts (31.2%), web portal posts (11.9%), webpage access logs (7.3%), images (7.3%), mobile phone network data (1.8%), global positioning system data (1.8%), and others (2.8%). Of these, 50.5% used correlation analyses, 41.3% regression analyses, 25.6% machine learning, and 19.3% descriptive analyses. Conclusions: Digital data collected for non-epidemiological purposes are being used to study health phenomena in a variety of topic domains. Digital epidemiology requires access to large datasets and advanced analytics. Ensuring open access is clearly at odds with the desire to have as little personal data as possible in these large datasets to protect privacy. Establishment of data cooperatives with restricted access may be a solution to this dilemma.

• Genomics & Informatics
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• v.16 no.4
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• pp.34.1-34.9
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• 2018

Cirsium japonicum belongs to the Asteraceae or Compositae family and is a medicinal plant in Asia that has a variety of effects, including tumour inhibition, improved immunity with flavones, and antidiabetic and hepatoprotective effects. Silymarin is synthesized by 4-coumaroyl-CoA via both the flavonoid and phenylpropanoid pathways to produce the immediate precursors taxifolin and coniferyl alcohol. Then, the oxidative radicalization of taxifolin and coniferyl alcohol produces silymarin. We identified the expression of genes related to the synthesis of silymarin in C. japonicum in three different tissues, namely, flowers, leaves, and roots, through RNA sequencing. We obtained 51,133 unigenes from transcriptome sequencing by de novo assembly using Trinity v2.1.1, TransDecoder v2.0.1, and CD-HIT v4.6 software. The differentially expressed gene analysis revealed that the expression of genes related to the flavonoid pathway was higher in the flowers, whereas the phenylpropanoid pathway was more highly expressed in the roots. In this study, we established a global transcriptome dataset for C. japonicum. The data shall not only be useful to focus more deeply on the genes related to product medicinal metabolite including flavolignan but also to study the functional genomics for genetic engineering of C. japonicum.

• Genomics & Informatics
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• v.20 no.1
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• pp.11.1-11.20
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• 2022

Vibrio harveyi belongs to the Vibrio genus that causes vibriosis in marine and aquatic fish species through double-stranded DNA virus replication. In humans, around 12 Vibrio species can cause gastroenteritis (gastrointestinal illness). A large amount of virus particles can be found in the cytoplasm of infected cells, which may cause death. Despite these devastating complications, there is still no cure or vaccine for the virus. As a result, we used an immunoinformatics approach to develop a multi-epitope vaccine against most pathogenic hemolysin gene of V. harveyi. The immunodominant T- and B-cell epitopes were identified using the hemolysin protein. We developed a vaccine employing three possible epitopes: cytotoxic T-lymphocytes, helper T-lymphocytes, and linear B-lymphocyte epitopes, after thorough testing. The vaccine was developed to be antigenic, immunogenic, and non-allergenic, as well as having a better solubility. Molecular dynamics simulation revealed significant structural stiffness and binding stability. In addition, the immunological simulation generated by computer revealed that the vaccination might elicit immune reactions in the actual life after injection. Finally, using Escherichia coli K12 as a model, codon optimization yielded ideal GC content and a higher codon adaptation index value, which was then included in the cloning vector pET2+ (a). Altogether, our experiment implies that the proposed peptide vaccine might be a good option for vibriosis prophylaxis.

• Genomics & Informatics
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• v.20 no.1
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• pp.12.1-12.7
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• 2022

The two complete mitochondrial genomes (mitogenomes) of Paedocypris progenetica, the smallest fish in the world which belonged to the Cyprinidae family, were sequenced and assembled. The circular DNA molecules of mitogenomes P1-P. progenetica and S3-P. progenetica were 16,827 and 16,616 bp in length, respectively, and encoded 13 protein-coding genes, 22 transfer RNA genes, two ribosomal RNA genes, and one control region. The gene arrangements of P. progenetica were identical to those of other Paedocypris species. BLAST and phylogenetic analyses revealed variations in the mitogenome sequences of two Paedocypris species from Perak and Selangor. The circular DNA molecule of P. progenetica yield a standard vertebrate gene arrangement and an overall nucleotide composition of A 33.0%, T 27.2%, C 23.5%, and G 15.5%. The overall AT content of this species was consistent with that of other species in other genera. The negative GC-skew and positive AT-skew of the control region in P. progenetica indicated rich genetic variability and AT nucleotide bias, respectively. The results of this study provide genomic variation information and enhance the understanding of the mitogenome of P. progenetica. They could later deliver highly valuable new insight into data for phylogenetic analysis and population genetics.

• Genomics & Informatics
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• v.20 no.3
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• pp.33.1-33.17
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• 2022

Nervous necrosis virus (NNV) is a deadly infectious disease that affects several fish species. It has been found that the NNV utilizes grouper heat shock cognate protein 70 (GHSC70) to enter the host cell. Thus, blocking the virus entry by targeting the responsible protein can protect the fishes from disease. The main objective of the study was to evaluate the inhibitory potentiality of 70 compounds of Azadirachta indica (Neem plant) which has been reported to show potential antiviral activity against various pathogens, but activity against the NNV has not yet been reported. The binding affinity of 70 compounds was calculated against the GHSC70 with the docking and molecular dynamics (MD) simulation approaches. Both the docking and MD methods predict 4 (PubChem CID: 14492795, 10134, 5280863, and 11119228) inhibitory compounds that bind strongly with the GHSC70 protein with a binding affinity of -9.7, -9.5, -9.1, and -9.0 kcal/mol, respectively. Also, the ADMET (absorption, distribution, metabolism, excretion, and toxicity) properties of the compounds confirmed the drug-likeness properties. As a result of the investigation, it may be inferred that Neem plant compounds may act as significant inhibitors of viral entry into the host cell. More in-vitro testing is needed to establish their effectiveness.

• Genomics & Informatics
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• v.20 no.2
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• pp.18.1-18.7
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• 2022

According to long-term projections, by 2030, the world's population is predicted to reach 7.5 billion individuals, and there will be roughly 27 million new cancer cases diagnosed. The global burden of breast cancer (BC) is expected to rise. According to the Ministry of Health-Iraqi Cancer Registry, cancer is the second largest cause of death after cardiovascular disease. This study investigated the interleukin-18 (IL18) single-nucleotide polymorphisms (SNPs) -607C/A rs1946518 and -137G/C rs187238 using the sequence-specific amplification-polymerase chain reaction approach. Regarding the position -607C/A, there was a highly significant difference between the observed and expected frequencies in patients and controls (χ² = 3.16 and χ² = 16.5), respectively. The AA and CA genotypes were associated with significantly increased BC risk (odds ratio [OR], 3.68; p = 0.004 and OR, 2.83; p = 0.04, respectively). Women with the A allele had a 5.03-fold increased susceptibility to BC. The C allele may be a protective allele against BC (OR, 0.19). Although position -137G/C showed no significant differences in the CC genotype distribution (p = 0.18), the frequency of the CC genotype was significantly higher in patients than in controls. In contrast, patients had a significantly higher frequency of GC genotypes than controls (p = 0.04), which was associated with an increased risk of developing BC (OR, 2.63). The G allele frequency was significantly lower in patients than in controls (55.0% vs. 76.2%, respectively). This SNP may be considered a common genotype in the Iraqi population, with the wild-type G allele having a protective function (OR, 0.19) and the mutant C allele having an environmental effect (OR, 2.63).

• Journal of the Korea Institute of Information and Communication Engineering
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• v.27 no.1
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• pp.15-26
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• 2023

The purpose of this study is to determine the artificial intelligence-based degradation index from the image of the cross-section of the microstructure taken with a scanning electron microscope of the specimen obtained by the creep test of DA-5161 SX, a nickel-based superalloy used as a material for high-temperature parts. It proposes a new method of quantification and proposes a model that predicts degradation based on Bayesian inference without destroying components of high-temperature parts of operating equipment and a creep life prediction model that predicts Larson-Miller Parameter (LMP). It is proposed that the new degradation indexing method that infers a consistent representative value from a small amount of images based on the geometrical characteristics of the gamma prime phase, a nickel-base superalloy microstructure, and the prediction method of degradation index and LMP with information on the environmental conditions of the material without destroying high-temperature parts.

• The Journal of Economics, Marketing and Management
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• v.11 no.3
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• pp.47-66
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• 2023

Purpose: The purpose of this study is to identify research trends related to ESG by domestic and overseas researchers so far, and to present research directions and clues for the possibility of applying ESG to Korean companies in the future and ESG practice through comparison of derived topics. Research design, data and methodology: In this study, as of October 20, 2022, after searching for the keyword 'ESG' in 'scienceON', 341 domestic papers with English abstracts and 1,173 overseas papers were extracted. For analysis, word frequency analysis, word co-occurrence frequency analysis, BERTopic, LDA, and OLS regression analysis were performed to confirm trends for each topic using Python 3.7. Results: As a result of word frequency analysis, It was found that words such as management, company, performance, and value were commonly used in both domestic and overseas papers. In domestic papers, words such as activity and responsibility, and in overseas papers, words such as sustainability, impact, and development were included in the top 20 words. As a result of analyzing the co-occurrence frequency of words, it was confirmed that domestic papers were related mainly to words such as company, management, and activity, and overseas papers were related to words such as investment, sustainability, and performance. As a result of topic modeling, 3 topics such as named ESG from the corporate perspective were derived for domestic papers, and a total of 7 topics such as named sustainable investment for overseas papers were derived. As a result of the annual trend analysis, each topic did not show a relatively increasing or decreasing tendency, confirming that all topics were neutral. Conclusions: The results of this study confirmed that although it is desirable that domestic papers have recently started research on consumers, the subject diversity is lower than that of overseas papers. Therefore, it is suggested that future research needs to approach various topics such as forecasting future risks related to ESG and corporate evaluation methods.

• Genomics & Informatics
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• v.20 no.4
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• pp.42.1-42.11
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• 2022

Breast cancer (BC) is a significant threat to female health, with both modifiable and non-modifiable risk factors. It is essential to monitor patients regularly and to raise population awareness. Increasing research also suggests that E-selectin (SELE) may increase tumor angiogenesis and the development of cancer. This study investigated SELE single-nucleotide polymorphisms (SNPs) in the following positions: rs5367T/C, rs5368C/T, rs5362T/G, and rs5362T/C. Using polymerase chain reaction, significant differences in allele and genotype frequencies were found between BC patients and controls. Position rs5368 was associated with an increased risk of BC for the CT and TT genotypes, with odds ratios (ORs) of 16.3 and 6.90 (Fisher probability = 0.0001, p = 0.005). Women with the T allele had a 19.3-fold higher incidence of BC, while allele C may be a protective allele against BC (OR, 0.05). Heterozygous genotypes at rs5367, rs5362, and rs5362 were significantly more common in BC patients, with ORs of 5.70, 4.50, and 3.80, respectively. These SNPs may be associated with the risk of BC, because the frequency of mutant alleles was significantly higher in patients (OR: 4.26, 3.83, and 4.30, respectively) than in controls (OR: 0.23, 0.30, and 0.20, respectively). These SNPs may be considered a common genotype in the Iraqi population, with the wild-type allele having a protective fraction and the mutant allele having an environmental fraction. The results also revealed a 2-fold increase in gene expression in BC patients compared to controls, with a significant effect (p = 0.017). This study's findings confirm the importance of SELE polymorphisms in cancer risk prediction.