• Journal of Life Science
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• v.31 no.10
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• pp.913-921
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• 2021

Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

• Journal of Life Science
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• v.31 no.9
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• pp.827-833
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• 2021

Dendropanax morbiferus leaves (DPL) has been used as a medicine since ancient times in various diseases such as inflammation, diabetes, and cancer. In particular, it has been found to have anticancer effects on several types of cancer cells, but the anticancer effect on breast cancer cells SK-BR-3 has not yet been revealed. Therefore, in this study, DPL caused proliferation inhibition in breast cancer cells SK-BR-3 and the anticancer effect by inducing apoptosis was confirmed, through an in vitro experiment. In order to examine the effect of DPL on cell viability, MTT assay was performed to confirm a significant decrease in the concentration of cell viability. DAPI staining was performed to examine the effect of DPL on cellular morphological changes and increase of apoptotic bodies. To supplement this, an increase in the apoptosis rate was also confirmed through flow cytometry after staining with annexin V/PI. Western blot was performed to confirm apoptosis-related proteins. DPL increased the expression of Cleaved-PARP, Bax whereas decreased the expression of Bcl-2. Changes in the expression levels of MAPK pathway proteins p-ERK1/2, p-JNK, and p-p38 were also confirmed, and a significant increase in p-p38 was observed. These results indicated that DPL induced apoptosis, through p-p38 MAPK signal pathway in SK-BR-3 breast cancer cells.

• Journal of the International Relations & Interdisciplinary Education
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• v.1 no.2
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• pp.48-67
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• 2021

This study investigated the perception of special teachers regarding the establishment of an evaluation system in the textbook use stage to manage the quality of textbooks developed as government-run books, and proposed a plan to establish a textbook evaluation system based on the results. For research, the quality management system was examined as a development stage and a use stage. And then, the necessity of a use stage evaluation system was raised as a quality management system for the use stage. Next, in order to find a way to establish an evaluation system in the use stage, the survey responses of 159 special teachers nationwide were analyzed. As a result of the analysis, the average satisfaction with textbooks of special teachers using basic curriculum textbooks was 3.3 points, and the perception that textbook evaluation at the stage of use was 4.02 was higher than the satisfaction. In the method of establishing a use-stage evaluation system, teachers (98.7%), independent platform construction (62.2%), regular evaluation (49.4%), and questions (50.6%) mixed with scale questions and open questions were preferred. In addition, the evaluation results were "disclosed only to those certified as users (55.1%), and the timing of reflecting the evaluation results was "when developing the next textbook" (41.0%). Based on the research results, it was suggested to establish an independent evaluation platform to establish a system for evaluating the use of basic curriculum textbooks, but to identify "textbook usability" so that all textbook users can evaluate it without burden and to review the revision of evaluation results through the Quality Management Committee organization. In addition, it was proposed to operate an integrated development-use-evaluation platform by allowing the evaluation platform to be equipped with textbooks already developed and various contents produced by teachers who are users.

• Land and Housing Review
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• v.12 no.2
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• pp.47-59
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• 2021

This study aims to review the trends of the population outflows in the metropolitan area of Busan and to investigate the factors that affect population out-migration to the Seoul metropolitan area. The following variables are considered for analysis: traditional population movement variables and quality of life variables, such as population, society, employment, housing, culture, safety, medical care, greenery, education, and childcare. The 'domestic population movement data', provided by the MDIS of the National Statistical Office, was used for this research. Out of the total of 57 million population movement data in the period 2012 - 2017, population outmigration from Busan to the Seoul metropolitan area was extracted. Independent variables were drawn from public data sources in accordance with the temporal and spatial settings of the study. The multiple linear regression model was specified based on the dataset, and the fit of the model was measured by the p-value, and the values of Adjusted R2, Durbin-Watson analysis, and F-statistics. The results of the analysis showed that the variables that have a significant effect on population movement from Busan to the Seoul metropolitan area were as follows: 'single-person households', 'the elderly population', 'the total birth rate', 'the number of companies', 'the number of employees', 'the housing sales price index', 'cultural facilities', and 'the number of students per teacher'. More positive (+) influences of the population out-movement were observed in areas with higher numbers of single-person households, lowers proportions of the elderly, lower numbers of businesses, higher numbers of employees, higher numbers of housing sales, lower numbers of cultural facilities, and lower numbers of students. The findings suggest that policies should enhance the environments such as quality jobs, culture, and welfare that can retain young people within Busan. Improvements in the quality of life and job creation are critical factors that can mitigate the outflows of the Busan residents to the Seoul metropolitan area.

• 한국노년학
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• v.38 no.3
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• pp.569-592
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• 2018

This study purported to investigate the current state of human rights of older adults residing in rural areas of Korea. The study utilized, as an analytic framework, 4 priority directions (1. "older persons and development", 2. "rural area development", 3. "advancing health and well-being into old age", and 4. "ensuring enabling and supportive environments") with 13 task actions recommended by Madrid International Plan of Action on Ageing (MIPAA). Furthermore, the study examined gender differences in all items included in the analytic framework. Data was collected by the face-to-face survey on 800 subjects aged 65 and over. Statistical analyses were conducted using STATA 13.0 program. The main results were summarized in order of 4 priority directions as follows. First, average working hours per day were 6.2, and men reportedly participated in economic activities and needed job training more than women, while women participated in lifelong education programs more than men. Awareness of fire and disaster prevention facilities was low in both genders. Second, accessibility to the support center for the elderly living alone as well as protective services for the vulnerable elderly was found to be low. IT-based services and networking were used more by men than women, and specifically, IT-based financial transactions and welfare services were least used. Third, medical check-ups and vaccinations were well received, while consistent treatments for chronic illnesses and long-term care services were relatively less given. In addition, accessibility to mental health service centers was considerably low. Fourth, although old house structures and the lack of convenience facilities were found to be circumstantial risk factors for these elders, experiences of receiving housing support services were scarce. The elderly were found to rely more on informal care, and concerns for their care were higher in women than men. Plus, accessibility to elderly abuse services was markedly low. Based on these results, discussed were implications for implementing policies and practical interventions to raise the levels of the human rights for this population.

• The Korean Journal of Archival Studies
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• no.17
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• pp.247-292
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• 2008

Investigations have been started to set the modern history and national spirit to rights after Commissions were established. Those Commissions are established and operated with time limit to finish its own missions. They creates three kinds of records as acquired materials which acquired or are donated for investigation; investigation records as investigation reports; and administrative records that created while supporting organization's operation. The Commissions use more past records to do special tasks asnation's slate clean and uncovering the truth than other agencies. In other words, the commissions take the most advantages of well-managed records, however, their record management environment and operation systems are relatively loose than other permanent machineries. It has three reasons that; first, there is no record management regulations and criteria for machineries that have time limit. This affected each commissions 'systems and 6 Truth Commissions' record management systems are built separately and on the different level; Second, members lack responsibility from frequent sending, reinstatement, change, and restructuring and that makes troubles to produce and manage records; Third, central archives pay less attention to machineries that operated limited period as the truth commissions. The Commissions rather need more systematic control because its records have historical value. To solve these problems, record management regulations have to be prepared first with features of organizations running limited time and commissions' records as acquired materials or investigation records. Furthermore, building up standard record management system for the Commissions, standardizing transfer data, imposing professional record personnel, and setting limits frequent personnel changes would finish practical problems. Besides, those records created to reveal the truth should use for education and research because Truth Commissions are established to set unfortunate history right and not to repeat it again. The records would serve as steppingstone for establishment of the Truth Record Center that does education, information work, publication, and research with the records. The record center would help using the records efficiently and improving knowledge for its people. And, the center should devote people to recognize importance of the records.

• Journal of Wetlands Research
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• v.20 no.4
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• pp.295-303
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• 2018

Inland wetlands in the Republic of Korea provide key breeding and wintering habitats, while coastal wetlands provide nutrient-rich habitats for stopover sites for East Asia/Australasia Flyway(EAAF) migrants. However, since the 1960's, Korea has reclaimed these coastal wetlands gradually for agriculture and urban expansion. The habitat loss has rippled across global populations of migrant shorebirds in EAAF. To protect a similar loss, the United States, specifically Missouri, developed the moist-soil management technique. Wetland impoundments are constructed from levees with water-flow control gates with specific soils, topography, available water sources, and target goals. The impoundments are subjected to a combination of carefully timed and regulated flooding and drawdown regimes with occasional soil disturbance. This serves a dual purpose of removing undesirable vegetation, while maximizing habitat and forage for wildlife. Flooding and drawdown schedules must be dynamic with constantly shifting climate conditions. Korea's latitude ($N33^{\circ}25^{\prime}{\sim}N38^{\circ}37^{\prime}$) is comparable to Missouri ($N36^{\circ}69^{\prime}{\sim}N40^{\circ}41^{\prime}$); as such, moist-soil management could prove to be an effective wetland restoration technique for Korea. In order to meet specific conservation goals (i.e. shorebird staging site restoration), it is necessary to test the proposed methodology on a site that can meet the required specifications for moist-soil management. Moist-soil management has the potential to not only create key habitat for endangered wildlife, but also provide valuable ecosystem services, including water filtration.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.20 no.8
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• pp.392-402
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• 2019

The purpose of this study is to determine the factors that predict happiness among aged males and females who live alone, and we focused on their satisfaction with their socio-physical environment, their social network, regular participation in social activities, their subjective health status and if they suffer from depression. A total of 2,76 people were the subjects of this study, their average age was 65 years old, they lived alone and all of them were selected from the '2017 Community Health Survey' data. The data was analyzed utilizing the Chi-square test, the Mann-Whitney test and multivariate logistic regression analysis. The subjects were 605 males (21.86%) and 2,163 females (78.14%). For the result of this study, the significant predictive factors of happiness for aged males living alone were monthly income (OR=2.363, 95% CI=1.473-3.791), basic livelihood rights (OR=1.903, 95% CI=1.144-3.167), trusting their neighbors (OR=2.018, 95% CI=1.263-3.225), religious activities (OR=2.098, 95% CI=1.314-3.349), subjective health (OR=2.753, 95% CI=1.217-6.228), and depression (OR=0.852, 95% CI=0.803-0.905). The significant predictive factors of happiness for aged females living alone were income (OR=2.407 95% CI=1.362-4.253), basic livelihood rights (OR=1.350, 95% CI=1.019-1.788), contact with friends (OR=1.879, 95% CI=1.323-2.669), religious activities (OR=1.372, 95% CI=1.124-1.676), recreation/leisure activities (OR=1.608, 95% CI=1.161-2.228), subjective health (OR=5.327, 95% CI=1.347-21.070), and depression (OR=0.864, 95% CI=0.840-0.890). In conclusion, programs to enhance happiness should be developed with considering the characteristics affecting the happiness of aged Korean males and females who live alone.

• Journal of Life Science
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• v.29 no.7
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• pp.800-808
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• 2019

Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.87-94
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• 2018

We present the case of long-term observation of a patient with chronic kidney disease (CKD) caused by advanced focal segmental glomerulosclerosis (FSGS) resulting from underlying congenital chloride diarrhea (CLD). A 20-year-old woman was admitted for prolonged proteinuria despite conservative treatment for CLD. She was diagnosed with CLD and started taking KCl salt supplementation from the time of birth. Mild proteinuria was first found at 12 years of age, which progressed to moderate proteinuria at 16 years of age. At 16 years of age, CKD stage 2 with FSGS was diagnosed based on the initial assessment of the glomerular filtration rate (GFR) and kidney histology. On admission, we re-assessed her renal function, histology and genetic analysis. GFR had deteriorated to CKD stage 4 and renal histology revealed an advanced FSGS combined with tubulointerstitial fibrosis. A homozygous mutation in the SLC26A3 gene (c.2063-1G>T) was found by diagnostic exome sequencing and may have been inherited from both parents. CLD patients can be more vulnerable to renal injury, which may also cause progression of renal failure. Therefore, even if there is an early diagnosis and adequate salt supplementation, close monitoring of renal function and tailored treatment should be emphasized for renal protection and favorable CLD prognosis.