• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.29-34
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• 2015

Citrullinemia type1 is an autosomal recessive disorder of the urea cycle characterized by neonatal or late onset of hyperammonemia caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). An ASS1 deficiency demonstrates fatal clinical manifestations that are characterized by the neonatal metabolic coma and early death when untreated. It causes a broad spectrum of effects, ranging from a mild disorder to a severe mental retardation, epilepsy, neurologic deficits. An acute neonatal form is the most common. Infants are normal at birth followed by an acute illness characterized by vomiting, lethargy, seizures and coma. These medical problems are life-threatening in many cases. A later onset form is less frequent and may be milder than the neonatal form. This later-onset form is associated with severe headaches, visual dysfunction, motor dysfunction, and lack of energy. Citrullinemia type1 is caused by mutations in the ASS1 gene located on chromosome 9q34.1 that encodes argininosuccinate synthetase, the third enzyme of the urea cycle catalyzing the formation of argininosuccinic acid from citrulline and aspartic acid. The enzyme is distributed in tissues including liver and fibroblasts. This mutation leads to hyperammonemia, arginine deficiency and elevated citrulline level. In the urea cycle, argininosuccinate synthetase catalyses the conversion of citrulline and aspartate to argininosuccinate.. Here, we describe a female newborn patient with lethargy, rigidity and hyperammonemia who was diagnosed as citrullinemia type1 with a c.[421-2A>G], c.[1128-6_1188dup] mutation.

• Journal of Nuclear Fuel Cycle and Waste Technology(JNFCWT)
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• v.11 no.2
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• pp.133-156
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• 2013

Natural analogue studies play an important role in the safety case which requires multiple lines of evidence including the safety assessment for the geological disposal of radioactive wastes. In this study, foreign status of natural analogue studies was investigated by summarizing natural analogue results according to the research topics related with repository materials and radionuclide migration and retardation. Main results, issues, and applicability of the foreign natural analogue studies were also analyzed. The results of domestic natural analogue studies were classified into studies using uranium ore bodies, rocks, groundwaters, and archeological artifacts, respectively, and their main results were summarized. There are massive materials for natural analogue studies which have been carried out during last several decades but they have not been actively applied to the safety assessment and safety case development for the radioactive waster disposal. Thus, in this study, applicable methods of natural analogues were summarized and a methodology for improving their applicability was examined. Natural analogue study is apparently necessary to improve and illustrate the reliability of safety assessment for a radioactive waste repository. Therefore, it is necessary to develop a methodology and construct a natural analogue information database for the application of the results from natural analogue studies to safety case development.

• Korean Journal of Microbiology
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• v.49 no.1
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• pp.8-16
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• 2013

A GAL4 type transcription factor gene (formally annotated as AN3912) locating downstream of sndA (AN3911) was characterized. The putative transcription factor carries both Zn(II)2Cys6 binuclear cluster DNA-binding domain and transcription activator domain. The gene named gtfA (gal4 type transcription factor) had an open reading frame which consisted of 762 amino acids and was disrupted by three introns. The deletion mutant produced reduced amount of conidia but increased amount of fruiting bodies, suggesting that the GtfA make function in decision of asexual preferential to sexual development. The forced over expression of gtfA caused the retardation of fruiting body formation on high glucose concentration. The transcript level of gtfA was kept constant through the life cycle except late vegetative stage and early sexual development stage during which slight increase was found. The expression of gtfA was not significantly affected by sexual or asexual development regulators, such as VeA, NsdD or FluG, FadA, and SfaD. The GtfA repressed the nsdC transcription, which suggested that GftA control sexual development negatively via negative regulation of nsdC expression.

• Journal of Nuclear Fuel Cycle and Waste Technology(JNFCWT)
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• v.5 no.1
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• pp.29-37
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• 2007

A conventional single compartment model cannot simulate reasonably the migration phenomenon of contaminants through unsaturated zone, due to the intrinsic unrealistic assumption of the compartment model that contaminants entering a compartment are immediately and uniformly mixed. Although, a multi-compartments model, in which even physically identical layer is divided into multiple compartments, may be used for explaining the retardation of contaminant mass flux along with increasing number of compartments, its numerical modeling is usually time-consuming and appropriate analytical solutions have not been reported yet. In order to improve the conventional compartment models on contaminant migration through unsaturated zone, a series of analytical solutions for multi-compartments model were derived and a generalized constraint under which the results from multi-compartments model can be simply approximated by single compartment model was proposed. The simplified approximation method was verified by a simple numerical analysis on the constraint under hypothetical conditions. It was also proved that the influent contaminant transfer rate from the bulk unsaturated zone can be generally represented into a time-dependent nominal transfer rate rather than a constant. In addition, the nominal transfer rate turned out to be very sensitive to the contaminant transfer rate between compartments in unsaturated zone, but to be almost insensitive to the transfer rate from contaminated zone. It is expected that the simplified approximation method developed in this study can be used for rapid and reasonable estimation of the migration phenomenon of contaminant through unsaturated zone, instead of time-consuming multi-compartments modeling.

• Journal of Nuclear Fuel Cycle and Waste Technology(JNFCWT)
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• v.13 no.1
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• pp.73-86
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• 2015

The use of complimentary indicators, other than radiation dose and risk, to assess the safety of radioactive waste disposal has been discussed in a number of publications for providing the reasonable assurance of disposal safety and convincing the public audience. In this study, the radionuclide flux was selected as performance indicator to appraise the performance of engineered barriers and natural barrier in the Wolsong low- and intermediate-level waste disposal facility. Radionuclide flux showing the retention capability by each compartment of the disposal system is independent of assumptions in biosphere model and exposure pathways. The scenario considered as the normal scenario of disposal facility has been divided into intact or degraded silo concrete conditions. In the intact silo concrete, the radionuclide flux has been assessed with respect to the radionuclide retardation performance of each engineered barrier. In the degraded silo concrete, the radionuclide flux has been explored based on the performance degradation of engineered barriers and the relative significance of natural barrier quantitatively. The results can be used to optimally design the near-surface disposal facility being planned as the second project phase. In the future, additional complimentary indicators will be employed for strengthening the safety case for improving the public acceptance of low- and intermediate-level waste disposal facility.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.17
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• pp.7297-7301
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• 2014

Objective: To explore the radiosensitization effect of overexpression of silent information regulator 6 (SIRT6) on A549 non-small cell lung cancer (NSCLC) cells. Methods: Adenovirus vector Ad-SIRT6 causing overexpression of SIRT6 was established. Western blotting and MTT assay were adopted to detect the level of SIRT6 protein and the inhibitory rate of A549 cell proliferation after different concentrations of adenovirus transduction (0, 25, 100, 200, and 400 pfu/cell) for 24 h. Control group, Ad-null group and Ad-SIRT6 group were designed in this experiment and virus concentration of the latter two groups was 200 pfu/cell. Colony formation assays were employed to test survival fraction (SF) of the 3 groups after 0, 2, 4, 6, 8, 10 X-ray irradiation. Flow cytometry was used to detect the status of cell cycle of 3 groups after 48 h of 4Gy X-ray irradiation and Western blotting was used to determine the expression of apoptosis-related genes of 3 groups after 48 h of 4GyX-ray irradiation. Results: In the range of 25~400 pfu/cell, the inhibitory rate of A549 cell proliferation increased as adenovirus concentration raised. The inhibitory rates under the concentrations of 0, 25, 100, 200, and 400 pfu/cell were 0%, $4.23{\pm}0.34%$, $12.7{\pm}2.57%$, $22.6{\pm}3.38%$, $32.2{\pm}3.22%$, $38.7{\pm}4.09%$ and $47.8{\pm}5.58%$ and there were significantly differences among groups (P<0.05). SF in Ad-SIRT6 group was lower than Ad-null and control groups after 4~10Gy X-ray irradiation (P<0.05) and the sensitization enhancement ratio (SER) was 1.35 when compared with control group. Moreover, after 48 h of 4Gy X-ray irradiation, there appeared a significant increase in G1-phase cell proportion, upregulated expression of the level of apoptosis-promoting genes (Bax and Cleaved caspase-3), but a obvious decline in S-phase and G2-phase cell proportion and a significant decrease of the level of apoptosis-inhibiting gene (Bal-2) in the Ad-SIRT6 group (P<0.05). Conclusion: The over-expression of adenovirus-mediated SIRT6, which has radiosensitization effect on A549 cells of NSCLC, can inhibit the proliferation of A549 cells and cause G0/G1 phase retardation as well as induce apoptosis of cells.

• Journal of Nuclear Fuel Cycle and Waste Technology(JNFCWT)
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• v.3 no.4
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• pp.329-333
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• 2005

To identify the effect of engineered barriers on the leach rate of cesium from spent PWR fuel under a synthetic granitic groundwater, the related leach tests with and without bentonite or metals have been performed up to about 6 years. The leach rates were decreased as a function of leaching time and then became a constant after a certain period. The period in a bare spent fuel was much longer than that with bentonite or metal sheets. The cumulative fraction of cesium released from the spent fuel with bentonite or with copper and stainless steel sheets was steadily increased, but the fraction from bare fuel was rapidly and then sluggishly increased. However, the values deducted its gap inventory from the cumulative fraction of cesium released from the bare fuel was almost very close to the others. These suggest that the initial release of cesium from bare fuel might be dependant on its gap inventory and the effect of engineered barriers on the long-term leach rate of cesium would be insignificant but the rate with engineered barriers could be reduced in the initial transient period due to their retardation effect. And the long-term leach rate of cesium from spent fuel in a repository would be approached to a constant rate of $2\times10^{-2}g/m^2-day$.

• Food Science and Preservation
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• v.11 no.4
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• pp.565-568
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• 2004

To investigate the effect of soy protein film packaging on the quality of beef, the rate of weight loss, pH, 2-thiobarbituric acid reactive substance (TBARS), and microbial (total bacterial count) Salmonella spp., E. coli changes were determined during storage. Beef samples were packaged with soy protein film containing rosemary extract and then stored at $4^{\circ}C$. Soy protein film was effective on prevention of weight loss, compared with the control, regardless of addition of rosemary extract. Change in pH of soy protein films containing the rosemary extract (RPF) was less during storage, compared with the control. Packaging of beef products with RPF inhibited lipid oxidation by $86\%$ at day 8 of storage, compared to the control. RPF packaging also affected the microbial growth, resulting in retardation of total bacteria by more than 1 log cycle. These results indicate that storage of beef packaged with RPF should be appropriate in terms of quality as well as shelf-life.

• Journal of Nuclear Fuel Cycle and Waste Technology(JNFCWT)
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• v.11 no.3
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• pp.229-243
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• 2013

An in situ solute migration system was designed and installed in KAERI Underground Research Tunnel (KURT) constructed in the site of Korea Atomic Energy Research Institute (KAERI) in order to investigate the migration and retardation of non-sorbing and sorbing tracers through a rock fracture. The system is composed of three main parts including injection, extraction, and data treatment. For the selection of a water-conducting fracture, boreholes were drilled. The fractures in the drilled boreholes were investigated using borehole image analysis using borehole image processing system (BIPS). The results of BIPS analysis showed that borehole YH 3-1 and YH 3-2 were connected each other. Moreover, hydraulic tests were carried out to determine the test section with connectivity for the in situ experiments. The in situ solute migration experiments were accomplished to understand the migration of solutes through fractures in KURT using non-sorbing tracers which were fluorescein sodium, eosin-B, bromide and sorbing tracers which were rubidium, nickel, zirconium, and samarium.

• Korean Journal of Poultry Science
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• v.36 no.3
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• pp.207-213
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• 2009

Adenylosuccinate lyase (ADSL) deficiency is a disease of purine metabolism which affects patients both biochemicall and behaviorally. An obstacle of this purine nucleotide cycle(PNC) can be caused brain functional disorder and growth disorder. So ADSL deficiency, which is associated with sever mental retardation, autistic features and energy metabolism. This study was performed to identify SNP on ADSL gene in chicken. The nucleotides were observed as T to C ($7724^{th}$ nucleotide), C to T ($7732^{nd}$ nucleotide), G to T ($10108^{th}$ nucleotide), A to T ($10356^{th}$ nucleotide), G to A($10375^{th}$ nucleotide), A to C ($10402^{nd}$ nucleotide), A to T ($12716^{th}$ nucleotide), T to A ($12717^{th}$ nucleotide), C to T ($15491^{st}$ nucleotide), C to T ($15542^{nd}$ nucleotide) and C to T ($15550^{th}$ nucleotide). The nucleotide substitutions at $15542^{nd}$ and $15550^{th}$ (GeneBank accession no. AY665559) were found as missense mutation (alanine$\rightarrow$valine, proline$\rightarrow$serine, respectively). This study will be useful for farther researches for identifying association between these SNPs and energy metabolism in chicken. The C15550T SNP showed three genotypes, CC, CT, TT by digestion with the genotype TT had significantly faster the first lay day (150.0) than CT (162.0, P<0.05) and genotype TT (150.0, P<0.05) had significantly higher the egg production rate than CT (172.4, P<0.05). According to result of this study, a C15550T was found to have a significantly effect first lay day and mean egg production. It will be possible to use SNP marker on selecting chicken to improve important economic traits, which is the first lay day and mean egg production.