• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.69-76
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• 2017

Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene on chromosome 7q21.3, and a type of urea cycle disorder that causes hyperammonemia. Although neonatal intrahepatic cholestasis and adult-onset type II citrullinemia, a type of citrin deficiency, have been described well in many articles for several decades, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), the other type of citrin deficiency, has been only identified recently. There was previously no case report about FTTDCD in Korea. Patients with FTTDCD could present with loss of appetite, fatigue, failure to thrive, hypoglycemia, hypercitrullinemia, dyslipidemia, and an increased lactate/pyruvate ratio. Routine evaluation may not reveal the cause of hypoglycemia caused by citrin deficiency. We recently had a case that presented with recurrent hypoglycemia in a 30-month-old boy. Chemistry profiling, urine organic acid analysis, plasma acylcarnitine analysis, and hormone studies indicated values within the normal range or non-specific findings. Mutation analysis to identify the cause of hypoglycemia identified the subject as a compound heterozygote carrying each of the c.852_855del ($p.Met285Profs^*2$), and c.1177+1G>A mutant alleles. We report here on this unusual case of citrin deficiency presenting with FTTDCD for the first time in Korea.

• Journal of Environmental Health Sciences
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• v.47 no.5
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• pp.432-445
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• 2021

Background: The European Centre for Ecotoxicology and Toxicology of Chemicals' Targeted Risk Assessment (ECETOC TRA) tool has been recognized by EU REACH as a preferred approach for calculating worker health risks from chemicals. Objectives: The applicability of the ECETOC TRA to occupational exposure estimation from industrial uses of methanol was studied by inputting surveyed and varied parameters for TRA estimation as well as through comparison with measured data. Methods: Information on uses of methanol was collected from seven working environment monitoring reports along with the measured exposure data. Input parameters for TRA estimation such as operating conditions (OCs), risk management measures (RMMs) and process categories (PROCs) were surveyed. To compare with measured exposures, parameters from the surveyed conditions of ventilation but no use of respiratory protection were applied. Results: PROCs 4, 5, 8a, 10, and 15 were assigned to ten uses of methanol. The uses include as a solvent for manufacturing sun cream, surfactants, dyestuffs, films and adhesives. Methanol was also used as a component in a release agent, hardening media and mold wash for cast products as well as a component of hard-coating solution and a viscosity-controlling agent for manufacturing glass lenses. PROC 8a and PROC 10 of a cast product manufacturer without LEV (local exhaust ventilation) and general ventilation as well as no respiratory protection resulted in the highest exposure to methanol. Assuming the identical worst OCs and RMMs for all uses, exposures from PROC 5, 8a, and 10 were the same and the highest followed by PROC 4 and 15. The estimation resulted in higher exposures in nine uses except one use where measured exposure approximated exposures without RMMs. Conclusions: The role of ECETOC TRA as a conservative exposure assessment tool was confirmed by comparison with measured data. Moreover, it can guide which RMMs should be applied for the safe use of methanol.

• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.1
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• pp.28-32
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• 2017

Lipoid congenital adrenal hyperplasia (LCAH) is the severe form of congenital adrenal hyperplasia and is characterized by adrenal insufficiency with hyperpigmentation and female external genitalia irrespective of genetic sex. The steroidogenic acute regulatory protein (StAR) is required for the transport of cholesterol into the mitochondria for steroidogenesis, and defects in the StAR gene account for the majority of LCAH cases. In this report, we present a two-day-old hyperpigmented infant with phenotypical female genitalia. With consideration of the clinical and laboratory findings, the infant was suspected of having adrenal insufficiency due to LCAH and treated with glucocorticoid, mineralocorticoid, and sodium chloride. Karyotyping revealed 46, XY. Upon pelvis ultrasonography, adrenal hyperplasia with abdominal masses (thought to be the testicles) was reported. Molecular analysis with targeted exome sequencing revealed the homozygote mutation of c.772C>T ($p.Q258^*$) in exon 7 of the StAR gene. The early detection and treatment of adrenal insufficiency in infants with hyperpigmentation can prevent clinically apparent adrenal crises. During follow-up, the patient had a good clinical condition and maintained normal electrolyte and adrenocorticotropic hormone levels with medication.

• Genomics & Informatics
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• v.15 no.4
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• pp.136-141
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• 2017

Accurate detection of genomic alterations, especially druggable hotspot mutations in tumors, has become an essential part of precision medicine. With targeted sequencing, we can obtain deeper coverage of reads and handle data more easily with a relatively lower cost and less time than whole-exome or whole-genome sequencing. Recently, we designed a customized gene panel for targeted sequencing of major solid cancers. In this study, we aimed to validate its performance. The cancer panel targets 95 cancer-related genes. In terms of the limit of detection, more than 86% of target mutations with a mutant allele frequency (MAF) <1% can be identified, and any mutation with >3% MAF can be detected. When we applied this system for the analysis of Acrometrix Oncology Hotspot Control DNA, which contains more than 500 COSMIC mutations across 53 genes, 99% of the expected mutations were robustly detected. We also confirmed the high reproducibility of the detection of mutations in multiple independent analyses. When we explored copy number alterations (CNAs), the expected CNAs were successfully detected, and this result was confirmed by target-specific genomic quantitative polymerase chain reaction. Taken together, these results support the reliability and accuracy of our cancer panel in detecting mutations. This panel could be useful for key mutation profiling research in solid tumors and clinical translation.

• Journal of the Korean Wood Science and Technology
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• v.48 no.6
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• pp.861-868
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• 2020

The use of polyphenol extracts from radiata pine (Pinus radiata) bark as raw materials for bio-foams was investigated along with the optimal NaOH extraction conditions. The targeted yield of alkaline extracts was 60%, and the targeted pH was 11 to 12. The radiata pine bark was composed of 70% of a 1% NaOH extract, which contained mainly polyphenols, such as proanthocyanidin (PA). As the particle size of the bark decreased, the yield of the 1% NaOH extracts increased from 57 to 87%. A range of NaOH concentrations, liquor ratios, and extraction times were explored to establish an economic polyphenol extraction method. More than 60% of the alkaline extract was extracted, and the pH of the extract was approximately 12 when the optimum extraction conditions were employed, i.e., a liquor to bark ratio of 5:1, a NaOH dosage of 17 to 18% based on the bark weight, and a 1 h extraction time. Following neutralization of the alkaline extract, structural analysis indicated severe structural changes in the PA during the alkaline extraction. Because the alkaline extract was barely soluble in the solvent used for the structural analyses, it is assumed that chemical modification is required to increase the solubility of the alkaline extract for the production of bio-foams.

• Journal of Microbiology and Biotechnology
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• v.24 no.5
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• pp.714-718
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• 2014

Apoptosis is the process of programmed cell death executed by specific proteases, the caspases, which mediate the cleavage of various vital proteins. Elucidating the consequences of this endoproteolytic cleavage is crucial to understanding cell death and other related biological processes. Although a number of possible roles for caspase-6 have been proposed, the identities and functions of proteins that interact with caspase-6 remain uncertain. In this study, we established a cell line expressing tandem affinity purification (TAP)-tagged caspase- 6 and then used LC-MS/MS proteomic analysis to analyze the caspase-6 interactome. Eight candidate caspase-6-interacting proteins were identified. Of these, five proteins (hnRNP-M, DHX38, ASPP2, MTA2, and UACA) were subsequently examined by co-immunoprecipitation for interactions with caspase-6. Thus, we identified two novel members of the caspase-6 interactome: hnRNP-M and MTA2.

• Journal of Korea Multimedia Society
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• v.16 no.11
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• pp.1315-1324
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• 2013

This paper mainly focuses on the system quality factors of a website targeted at shopping mall websites in China and Korea. We categorized six system quality factors and formulated hypotheses regarding how those six factors are different. We also conducted an empirical study to verify hypotheses. Statistical data for an empirical study targeted at undergraduate students in Korea and China, having filled in a questionnaire. Reliability of the collected data was measured, and a T-test of the established hypotheses was carried out. The following describes the results that were found. While the shopping mall websites of two countries showed a difference in terms of quick transition of the web pages or images, ease of use, reliability, and accessibility, they did not show the difference in term of accuracy and the short cut function. We analyzed the causes of the verified results and suggested a strategy to implement the effective shopping mall web sites.

• Journal of Microbiology and Biotechnology
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• v.12 no.1
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• pp.89-95
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• 2002

Telomerase is a ribonucleoprotein complex, whose function is to add telomeric repeats $(TTAGGG)_n$ to chromosomal ends and is also known to play an important role in cellular immortalization. Telomerase is highly active in most tumor cells, yet not in normal cells. Therefore, it may have possible applications in cancer gene therapy. Telomerase consists of two essential components; a telomerase RNA template (hTR) and a catalytic subunit (hTERT). The current study attempted to inhibit the "open" part of the human telomerase RNA (hTR) with an antisense sequence-expressing adenovirus. It was found that the antisense telomerase adenovirus suppressed the telomerase activity, tumor cell growth, and survival in vitro. Furthermore, FACS analysis and TUNEL assay suggested that the reduce viability was mediated through the induction of apoptosis, indicating that this approach might be a useful method for suppressing cancer growth in targeted cancer gene therapy.

• Journal of the Korean Society of Clothing and Textiles
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• v.41 no.4
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• pp.599-614
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• 2017

With the increasing media representation of aging as negative and abnormal, anti-aging products and discourses are spreading to younger generations. This paper analyzes the anti-aging discourse in a fashion magazine targeted towards women in their 20s. It quantitatively analyzes the historical development of the antiaging industry and discourses from 1994 to 2014 in the magazine "$C{\acute{e}}ci$". It also analyzes the patterns of signification associated with aging in the magazine through the use of critical discourse analysis. This paper identifies five major discourses -"segmentation of the definitions of youthful appearance", "scientific and medical discourse", "self-care discourse", "prevention of aging", and "social values of youthful appearances". The paper finds that the construction of anti-aging discourses towards women in their 20s is heavily influenced by the close link between the anti-aging industry and the fashion media. It also confirms the ideology of self-development though a rigorous appearance-management that is strongly imposed on Korean women and subsequently reproduced in an anti-aging discourse towards women in their 20s.

• Proceedings of the Korean Vacuum Society Conference
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• 2013.02a
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• pp.110-111
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• 2013

FcBP consisting of 13 amino acids specifically binds to Immunoglobulin G Fc domain. Initially, we utilized this peptide for preparation of antibody chip as a PEG composite for enhanced solubility. After then, the peptide conjugate was immobilized on agarose resin, resulting in highly efficient affinity column for antibody purification. The efficiency was comparable to commercial Protein A column. Recently, this peptide was conjugated with cell penetrating peptide (CPP) on a backbone of GFP, affording antibody transducer, which carries antibody into live cells by simple mixing of antibody and the transducer in cell culture media. Antibody transduction into cells was monitored by live cell imaging. More recently, the FcBP was fused to ferritin cage, which consists of 24 ferritin protein molecules. The FcBP-ferritin cage showed greatly increased binding affinity to human IgG. Its binding was analyzed by QCM and SPR analysis. Finally, it was selectively delivered by Herceptin to SKBR3, a breast cancer cell, over MCF10A, non-tumorigenic cells (Fig. 1). Fig. 1. Fluorescent microscopic images of SKBR3 breast cancer cells (A~C) and MCF10A breast cells (D~F) treated with Cy3-trastuzumab/fFcBP-Pf_Fn complexes. Trastuzumab and FcBP-Pf_Fn, which were labeled with Cy3 (Cy3-trastuzumab) and fluorescein (fFcBP-Pf_Fn), respectively, selectively targeted SKBR3 over MCF10A.