• 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.

• 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 the Society of Cosmetic Scientists of Korea
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• v.42 no.4
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• pp.403-412
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• 2016

The tight junction, one of Intercellular junctions, performs a variety of biological functions by bonding adjacent cells, including the barrier function to control the movement of the electrolyte and water. Recent studies have revealed that unusual expression of tight junction-related genes have been shown to be related in cancer development and progression. Recently, there are many reports that control of tight junction proteins expression is closely related to the skin moisture. In this study, we are focusing on the regulating mechanism of tight junction-associated genes by the steviol and its derivatives. Steviol, used as a sweetner, is known to chemical compound isolated from stevia plant. The MTS (3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-2-(4-sulfophenyl)-2H-tetrazolium, inner salt) assay was carried out in HaCaT cells (human keratinocyte cell line) in order to determine the cytotoxicity. As a result, while steviol showing cytotoxicity from $250{\mu}M$, steviol derivatives are not cytotoxic more than $250{\mu}M$ concentration. We have observed a change in the tight junction protein via quantitative real-time PCR. Claudin 8 among tight junction proteins is only significantly reduced up to 30% in the presence of steviol. In addition, cell migration was inhibited by steviol, not by stevioside and rebaudioside. Finally, we could observe that steviol, not stevioside and rebaudioside, is able to increase the skin barrier permeability through the transepithelial electric resistance (TEER) measurements. These results suggest that the steviol and its derivatives are specifically acts on the tight junction related gene expression, but steviol derivatives are more suitable as a cosmetic material.

• Korean Journal of Agricultural Science
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• v.9 no.1
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• pp.396-450
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• 1982

To obtain basic information on the Korean local corn lines a total of 57 lines were selected from 1,000 Korean local collection at Chungnam National University, classified by principal component analysis, and genetic nature was investigated. The results are summarized as follows. 1. There were a great variation in mean values of plant characters of the lines. The mean values of plant characters except for density of kernels varied with types of crossing. All characters except. for tasselling dates were reduced in magnitude when selfed, while those characters were increased when topcrossed. 2. The correlation coefficients among characters studied ranged front 0.99 to -0.59. The correlation coefficients among characters were not greatly changed depending upon types of crosses. 3. In order to classify the lines more effectively, selected 12 plant characters were used to classify 57 local lines by principal component analysis. The first four component could explain 86.4%, 83.4% and 81.1% of the total variations in sibbed lines, selfed lines and topcrossed lines, respectively. 4. Contribution of characters to principal component was high at upper principal components and low at lower principal components. 5. Biological meaning of the principal component and plant types corresponding to the each principal component were explained clearly by the correlation coefficient between principal components and characters. The first principal component appeared to correspond to the size of plant and ear. The second principal component appeared to correspond to the degree of differentiation in organs and the duration of vegetative growing period. But biological meaning of the third and fourth principal components was not clear. 6. The lines were classified into 4 lineal groups by the taxonomic distance. Group I included 52 lines which was 91.2% of total lines, group II 3 lines, group III 1 lines and group IV I lines, respectively. Four groups could be characterized as follows : Group I : early maturity, short-culmed, medium height plant, small ears, medium kernels and medium yielding. Group II : late maturity, medium height plant, small ears, small kernels, prolific ears and higher yielding. Group III : medium maturity, tall-culmed, small ears, small kernels and low yielding. Group IV : medium maturity, tall-calmed, large ears, one ear plant and me yielding. 7. The inbreeding depression varied with plant characters and lines. The characters such as yield, kernel weight per ear, ear weight and plant height showed great degree of inbreeding depression. Group I showed high inbreeding depression in such characters as 100 kernel weight, leaf number, plant height and days to tasselling, while group II showed high inbreeding depression in other plant characters. 8. Heterosis of plant characters varied also with lines. The ear weight, kernel weight per ear, yield, 100 kernel weight, and plant height were some of the plant characters showing high heterosis. Group II showed high values of heterosis in such characters as ear length, ear diameter, ear weight, kernel weight per ear, 100 kernel weight, and leaf length, while group I was high in heterosis in other plant characters. 9. The degree of homozgosity was highest in ear weight (79.1%) and lowest in ear number per plant (-21%). Group II showed higher degree of homozygosity than group I. 10. Correlation coefficients between characters of ribbed and topcrossed lines were positive for all characters. Highly significant. correlation coefficients between ribbed and topcrossed lines were obtained especially for characters such as ear number per plant, plant height, leaf length and yield per plot.

• Childhood Kidney Diseases
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• v.3 no.2
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• pp.209-216
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• 1999

Purpose : Nephrogenic diabetes insipidus (NDI) is a rare X-linked disorder associated with renal tubule resistance to arginine vasopressin (AVP). The hypothesis that the defect underlying NDI might be a dysfunctional renal AVPR2 has recently been proven by the identification of mutations in the AVPR2 gene in NDT patients. To investigate the association of mutations in th AVPR2 gene with NDI, we analyzed the AVPR2 gene located on the X chromosome. Methods : We have analyzed the AVPR2 gene in a kindred with X-linked NDI. The proband and proband's mother were analyzed by polymerase chain reaction-single strand conformational polymorphism(PCR-SSCP) and DNA sequencing of the AVPR2 gene. We also have used restriction enzyme analysis of genomic PCR product to evaluate the AVPR2 gene. Results : C to T transition at codon 202, predictive of an exchange of tryptophan 202 by cysteine(R202C) in the third extracellular domain was identified. This mutation causes a loss of Hae III site within the gene. Conclusion : We found a R202C missense mutation in the AVPR2 gene causing X-linked NDI, and now direct mutational analysis is available for carrier screening and early diagnosis.

• Journal of the Korea Concrete Institute
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• v.26 no.4
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• pp.441-448
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• 2014

From several researches, recently, it was found that using hollowed precast concrete (HPC) column made more compact concrete casting in joint region possible than using normal solid PC (Precast concrete) column. Therefore, the rigidity of joints can be improved like those of monolithic reinforced concrete (RC). After filling the hollow with grout concrete, however, it is expected that the HPC column behaviors like composite structure since PC element and grout concrete have different materials as well as there is a contact surface between two elements. These may affect the structural behavior and strength of the composite column. A compressive strength test was performed for the HPC column with parameter of hollow ratio for the case with and without grout in the hollow and the result is presented in this paper. The hollow ratios in the test are 35, 50 and 59% of whole section of column. Concentrated axial force was applied to top of the specimens supported as pin connection for both ends. In addition, finite element (FE) analysis was performed to simulate the failure behavior of HPC column for axial compression. As a result, it was found that the hollow ratio did not affect the initial stiffness of HPC filled with grout regardless of the strength difference of HPC and grout. However the strength was increased inversely corresponding to the hollow ratio. The structural capacity of HPC without grout closely related to the hollow size. Especially, the local collapse governs the overall failure when the thickness of HPC is too thin. Based on these effect, a suitable equation was suggested for calculation of the compressive strength of HPC column with or without grout. FE analysis considering the contact surface between HPC and grout produced a good result matched to the test result.

• Development and Reproduction
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• v.14 no.4
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• pp.243-251
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• 2010

ESRRB (Estrogen related receptor $\beta$) is an orphan receptor, and have a role on maintaining the undifferentiated state and self-renewal of pluripotent stem cell as a transcription factor which regulates the expression of OCT4 and NANOG genes. Also, Feng et al. (2009) reported that Esrrb, Oct4 and Sox2 could induce pluripotent stem cell from somatic cells. The aim of the present study was to develop the direct delivery system of human ESRRB protein into human amniotic fluid-derived stem cells (AFSCs) and to analyze the effect of ESRRB on the regulation of pluripotency-related genes. Human ESRRB has three isoforms arisen by alternative splicing. We cloned short-form ESRRB and made a fusion protein of ESRRB and R7 for an efficient protein transfer to cell. R7 as cell-penetrating peptide(CPP) can help to transfer ESRRB into cells. R7-ESRRB-His6 protein was observed in the cytoplasm and nuclei within 5 hours after treatment. Also, we could observe R7-ESRRB-His6 protein only in the nuclei within 24 hours. Realtime PCR showed that ESRRB increased expression of OCT4 and NANOG as well as SOX2 gene. Therefore, we demonstrated that R7-ESRRB-His6 proteins were efficiently transferred into the nuclei of AFSCs and work well as a possible transcription factor.

• Journal of Korean Society of Forest Science
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• v.90 no.1
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• pp.43-54
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• 2001

Genetic differentiation of populations is resulted from the environmental and the genetic effects, and the interactions between them. Whereas, the major factors influencing to the genetic differentiation within populations are the gene flow induced by seed or pollen dispersial, the microsite heterogeneity, and the density-dependent distribution of individuals. For the purpose of studying spatial genetic structure and the distribution pattern of Korean pines(Pinus koraiensis), we set up one $100{\times}100m$ plot at a Korean pine stand in Quercus mongolica community on Mt. Jumbong in Korea. To estimate the coefficient of spatial autocorrelation as Moran's index and an analogue, simple block distance, isozyme markers were analyzed in 325 Korean pines. For 11 polymorphic loci observed in 9 enzyme systems, the average percentage of polymorphic loci, the observed and expected heterozygocity were 72.2% 0.200, and 0.251, respectively. It was revealed the excess of homozygotes was observed in the plot, which suggests that here may be more number of consanguineous trees than expected. On the basis of isozyme genotypes observed in this study, 325 trees were classified into 147 groups in which the maximum number of trees for one group was 34. From the distance class of 24-32m, the genetic heterogeneity began to increase. The variation of simple block distance against the growth performance by tree height and diameter also showed the same trend at 24~32m class. According to high fixation index(F=0.204), the spatial genetic structure within a stand, the analysis of the growth performance, and the distribution patterns of identical genotypes, we inferred that the genetic structure of a Korean pine stand in Mt. Jumbong has been maintained rather density-dependent mechanism than the gene flow, such as the pollen dispersial or the heavy input of seeds following the forest gaps. The genetic patchy size was determined between 24~32m, which suggests that the selection of individuals for the ex situ conservation of Korean pine in Mt. Jumbong may be desirable to be made with the spatial distance over 37 meters between trees.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.99-106
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• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

• Journal of Korean Society of Steel Construction
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• v.20 no.5
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• pp.633-644
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• 2008

The structural framework design uses high-strength bolts and welding in column splices. However, for the column under high compression, the number of the required high-strength bolts can be excessive and the increase of welding results in difficulty of quality inspection, the transformation of the structural steels, and the increase of erection time. According to the AISC criteria, when columns have bearing plates, or they are finished to bear at splices, there shall be sufficient connections to hold all parts securely in place. The Korean standard sets the maximum 25% of the load as criteria. Using direct contact makes it possible to transfer all compressive force through it. The objective of this study is to examine the generally applied stress path mechanism of welded or bolted columns and to verify the bending moment and compression transfer mechanism of the column splice according to metal touch precision. For this study,22 specimens of various geometric shapes were constructed according to the change in the variables for each column splice type, which includes the splice method, gap width, gap axis, presence or absence of splice material, and connector type. The results show that the application of each splice can be improved through the examination of the stress path mechanism upon metal contact. Moreover, the revision of the relative local code on direct contact needs to be reviewed properly for the economics and efficiency of the splices.