• Food Science of Animal Resources
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• v.29 no.1
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• pp.108-113
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• 2009

Apolipoprotein E (APOE) is a plasma lipoprotein in mammals and plays an important role in the transport and metabolism of lipids such as phospholipids and triglycerides. Therefore, the APOE gene could be a candidate gene controlling lipid metabolism in beef cattle. This study was performed to identify single nucleotide polymorphisms (SNP) in the APOE gene and to investigate the effects of SNP genotype on the carcass traits such as meat quantity and quality in Korean cattle. For PCR amplification, pooled DNA made from unrelated 60 individuals was prepared and primer pairs were designed based on the cDNA sequence of exon 4 region of the bovine APOE gene. A SNP was identified at position 2034 (T/C substitution) of the exon 4 region in the APOE gene. PCR-RFLP procedure with restriction enzyme ACC I was developed for determining the SNP genotype for each of a total of 309 animals with pedigree information and performance records through the national progeny testing program. The frequencies of the genotypes TT, TC and CC were 10.9, 46.9 and 42.2%. Gene frequencies were 0.344 for T allele and 0.656 for C allele. The g.2034T>C SNP genotype showed a significant effect (p<0.05) on dressing percentage and meat color, respectively. Animals with the TT genotype showed higher dressing percentage than those with the CC genotype, and TT genotype had desirable meat color compared with CC genotype. These results suggest that the g.2034T>C SNP genotype of the APOE gene may be useful as a DNA marker for meat quantity index and dressing percentage in Korean cattle.

• Journal of The Korean Ophthalmological Society
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• v.58 no.4
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• pp.380-386
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• 2017

Purpose: To compare the clinical characteristics and prognosis of Fuchs dystrophy patients according to COL8A2 gene mutation status. Methods: Eighty-one patients (162 eyes) initially diagnosed with Fuchs dystrophy from 1996 to 2015 were divided into two groups according to COL8A2 gene mutation status. Retrospective analysis was performed comparing gender, age at diagnosis, presence of family history, diabetes mellitus, symptoms of blurred vision in the morning, changes in central corneal thickness and endothelial cell density with time, need for corneal transplantation, and pre-operative corneal status in the two groups. Results: Of the 81 patients, 12 were shown to harbor a COL8A2 gene mutation. Individuals with mutation were significantly associated with presence of family history, diabetes mellitus, and blurred vision in the morning (p = 0.021, p = 0.024, p = 0.044, respectively). They also had significantly thicker central cornea and lower endothelial cell density at the time of diagnosis (p = 0.020, p = 0.005, respectively). The differences in central corneal thickness and endothelial cell density between the two eyes in one patient were significantly smaller in patients with gene mutation (p = 0.043, p = 0.022, respectively). Over a 5-year follow-up period, 60.0% of eyes in patients with gene mutation and 19.2% of eyes in patients without gene mutation underwent corneal transplantation, a significant difference between the two groups (p = 0.014). Conclusions: By testing for COL8A2 gene mutation, early binocular disease progression and the possible need for corneal transplantation in the future can be predicted among patients diagnosed with Fuchs dystrophy.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.89-93
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• 2008

"Personalized medicine," the goal of which is to provide better clinical care by applying patient's own genomic information to their health care is a global challenge for the $21^{st}$ century "genomic era." This is especially true in Korea, where provisions for clinical genetic services are inadequate for the existing demand, let alone future demands. Genomics-based knowledge and tools make it possible to approach each patient as a unique biological individual, which has led to a paradigm-shift in medical practice, giving it more of a predictive focus as compared with current treatment oriented approach. With recent advancements in genomics, many genetic tests, such as susceptibility genetic tests, have been developed for both rare single gene diseases and more common multifactorial diseases. Indeed, genetic tests for presymtomatic individuals and genetic tests for drug response have become widely available, and personalized medicine will face the challenge of assisting patients who use such tests to make appropriate and wise use of genetic risk assessment. A major challenge of genomic medicine lies in understanding and communicating disease risk in order to facilitate and support patients and their families in making informed decisions. Establishment of a health care system with provisions for genetic counseling as an integral part of health care service, in addition to genomic literacy of health care providers, is vital to meet this growing challenge. Realization of the promise of personalized medicine in the era of genomics for improvement of health care is dependent on further development of next generation sequencing technology and affordable sequencing test costs. Also necessary will be policy development concerning the ethical, legal and social issues of genomic medicine and an educated and ready medical community with clinical practice guidelines for genetic counseling and genetic testing.

• Computers and Concrete
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• v.27 no.4
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• pp.333-341
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• 2021

Steel slag, an industrial reject from the steel rolling process, has been identified as one of the suitable, environmentally friendly materials for concrete production. Given that the coarse aggregate portion represents about 70% of concrete constituents, other economic approaches have been found in the use of alternative materials such as steel slag in concrete. Unfortunately, a standard framework for its application is still lacking. Therefore, this study proposed functional model equations for the determination of strength properties (compression and splitting tensile) of steel slag aggregate concrete (SSAC), using gene expression programming (GEP). The study, in the experimental phase, utilized steel slag as a partial replacement of crushed rock, in steps 20%, 40%, 60%, 80%, and 100%, respectively. The predictor variables included in the analysis were cement, sand, granite, steel slag, water/cement ratio, and curing regime (age). For the model development, 60-75% of the dataset was used as the training set, while the remaining data was used for testing the model. Empirical results illustrate that steel aggregate could be used up to 100% replacement of conventional aggregate, while also yielding comparable results as the latter. The GEP-based functional relations were tested statistically. The minimum absolute percentage error (MAPE), and root mean square error (RMSE) for compressive strength are 6.9 and 1.4, and 12.52 and 0.91 for the train and test datasets, respectively. With the consistency of both the training and testing datasets, the model has shown a strong capacity to predict the strength properties of SSAC. The results showed that the proposed model equations are reliably suitable for estimating SSAC strength properties. The GEP-based formula is relatively simple and useful for pre-design applications.

• Journal of Animal Reproduction and Biotechnology
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• v.39 no.1
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• pp.2-11
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• 2024

Background: The small intestine plays a crucial role in animals in maintaining homeostasis as well as a series of physiological events such as nutrient uptake and immune function to improve productivity. Research on intestinal organoids has recently garnered interest, aiming to study various functions of the intestinal epithelium as a potential alternative to an in vivo system. These technologies have created new possibilities and opportunities for substituting animals for testing with an in vitro model. Methods: Here, we report the establishment and characterisation of intestinal organoids derived from jejunum tissues of adult pigs. Intestinal crypts, including intestinal stem cells from the jejunum tissue of adult pigs (10 months old), were sequentially isolated and cultivated over several passages without losing their proliferation and differentiation using the scaffold-based and three-dimensional method, which indicated the recapitulating capacity. Results: Porcine jejunum-derived intestinal organoids showed the specific expression of several genes related to intestinal stem cells and the epithelium. Furthermore, they showed high permeability when exposed to FITC-dextran 4 kDa, representing a barrier function similar to that of in vivo tissues. Collectively, these results demonstrate the efficient cultivation and characteristics of porcine jejunum-derived intestinal organoids. Conclusions: In this study, using a 3D culture system, we successfully established porcine jejunum-derived intestinal organoids. They show potential for various applications, such as for nutrient absorption as an in vitro model of the intestinal epithelium fused with organ-on-a-chip technology to improve productivity in animal biotechnology in future studies.

• Toxicological Research
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• v.21 no.2
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• pp.135-140
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• 2005

Although the pathogenesis of cerebral cavernous malformation (CCM) is unknown, a familial predisposition has been recognized, with up to $55\%$ of patients having an affected relatives. Genetic linkage studies have recently mapped a gene causing CCM to a segment of the long arm of chromosome 7 (7q). We report herein a genetic linkage analysis conducted on a Korean three generation family with CCM. It's first report in Korean family. A Korean family in which one member had undergone surgery for ubtracerebrak hematoma (ICH) and confirmed the CCM, was evaluated. They were examined clinically (n=18) and by magnetic resonance (MR) imaging (n=10). Polymorphic markers (D7S1813, D7S1789) spanning the CCM1 locus on 7q were genotyped by the polymerase chain reaction and analysis of linkage was performed in this family (n=17). Six had multiple lesions on brain MR image, one of them being symptomatic, and five were asymptomatic. Seven remaining members were asymptomatic and refused MR image study. One had died of ICH from presumed CCM. Analysis of the pedigree was consistent with an autosomal dominant pattern of inheritance. All affected patients were linked to CCM1. Linkage to CCM1 can account for inheritance of CCM in this family. They had some striking features with a low clinical penetrance and the presence of multiple lesions. These findings have implications for genetic testing of this disorder and represent an important step toward identification of the gene responsible for the pathogenesis of this disease.

• Korean Journal of Biological Psychiatry
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• v.19 no.3
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• pp.140-145
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• 2012

Objectives : ST8SIA2 (ST8 alpha-N-acetyl-neuraminide alpha-2, 8-sialyltransferase 2 gene) is located at 15q26, a susceptibility locus for schizophrenia. Some previous research had indicated that single-nucleotide polymorphisms (SNPs) in the promoter region of ST8SIA2 were associated with schizophrenia in Japanese and Chinese populations. We investigated the association between SNPs in the promoter region of ST8SIA2 and schizophrenia in the Korean population. Methods : The study subjects were 190 Korean patients with schizophrenia and 190 healthy controls. We performed allelic, genotypic, and haplotypic association analyses for rs3759916, rs3759915 and rs3759914 of ST8SIA2. All genotypes were determined by direct sequencing. Results : In the genotype-based analysis, rs3759914 showed a nominally significant association with schizophrenia under recessive genotypic model (p = 0.047). However, this association did not remain statistically significant after correction for multiple testing. Both allelic and haplotype analyses did not show any significant association. Conclusions : These findings suggest that ST8SIA2 does not play a major role in the susceptibility to schizophrenia in the Korean population. Further studies with a larger number of subjects are required to definitively rule out minor effects of this gene on schizophrenia vulnerability.

• Clinical and Experimental Pediatrics
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• v.57 no.5
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• pp.240-244
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• 2014

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 ($p.Gln213^*$). To our knowledge, this is a novel mutation in GNAS.

• Asian-Australasian Journal of Animal Sciences
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• v.18 no.12
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• pp.1741-1745
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• 2005

Zinc is a trace element that is associated with a stimulation of immune function and regulation of ion balance for livestock production. In this study, the effect of zinc as inhibitor to apoptosis-induced cells was examined in vitro using mammary epithelial cell line, HC11 and macrophage cell line, NCTC3749. Cell viability, measured by MTT assay, indicated that 10 g/ml of zinc had a negative impact on cellular activity and 50 ng/ml was chosen for further testing. Apoptosis was induced in cells treated with C2-ceramide in serum-free media. DNA fragmentation and gene expression of acidic sphingomyelinase (a gene responsible for the progress of apoptosis) were distinctively low in zinc treated cells compared with those in non-treated controls. In conclusion, zinc is involved in the regulation of cell proliferation and apoptosis in mammary epithelial cells and macrophages.

• Bioinformatics and Biosystems
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• v.1 no.1
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• pp.67-72
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• 2006

The aim of this paper is to discuss the effect of missing values in detecting differentially expressed genes in a cDNA microarray experiment in the context of a one sample problem. We conducted a cDNA micro array experiment to detect differentially expressed genes for the metastasis of colorectal cancer based on twenty patients who underwent liver resection due to liver metastasis from colorectal cancer. Total RNAs from metastatic liver tumor and adjacent normal liver tissue from a single patient were labeled with cy5 and cy3, respectively, and competitively hybridized to a cDNA microarray with 7775 human genes. We used $M=log_2(R/G)$ for the signal evaluation, where Rand G denoted the fluorescent intensities of Cy5 and Cy3 dyes, respectively. The statistical problem comprises a one sample test of testing E(M)=0 for each gene and involves multiple tests. The twenty cDNA microarray data would comprise a matrix of dimension 7775 by 20, if there were no missing values. However, missing values occur for various reasons. For each gene, the no missing proportion (NMP) was defined to be the proportion of non-missing values out of twenty. In detecting differentially expressed (DE) genes, we used the genes whose NMP is greater than or equal to 0.4 and then sequentially increased NMP by 0.1 for investigating its effect on the detection of DE genes. For each fixed NMP, we imputed the missing values with K-nearest neighbor method (K=10) and applied the nonparametric t-test of Dudoit et al. (2002), SAM by Tusher et al. (2001) and empirical Bayes procedure by $L\ddot{o}nnstedt$ and Speed (2002) to find out the effect of missing values in the final outcome. These three procedures yielded substantially agreeable result in detecting DE genes. Of these three procedures we used SAM for exploring the acceptable NMP level. The result showed that the optimum no missing proportion (NMP) found in this data set turned out to be 80%. It is more desirable to find the optimum level of NMP for each data set by applying the method described in this note, when the plot of (NMP, Number of overlapping genes) shows a turning point.