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A case of TBC1D32-related ciliopathy with novel compound heterozygous variants

  • Ahn, Ji Ye;Kim, Soo Yeon;Lim, Byung Chan;Kim, Ki Joong;Chae, Jong Hee
    • Journal of Genetic Medicine
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    • v.18 no.1
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    • pp.64-69
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    • 2021
  • Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.

Social Media Analytics to Understand the Construction Industry Sentiments

  • Shrestha, K. Joseph;Mani, Nirajan;Kisi, Krishna P.;Abdelaty, Ahmed
    • International conference on construction engineering and project management
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    • 2022.06a
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    • pp.712-720
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    • 2022
  • The use of social media to disseminate news and interact with project stakeholders is increasing over time in the construction industry. Such social media data can be analyzed to get useful insights of the industry such as demands of new housing construction and satisfaction of construction workers. However, there has been a limited attempts to analyze social media data related to the construction industry. The objective of this study is to collect and analyze construction related tweets to understand the overall sentiments of individuals and organizations about the construction industry. The study collected 87,244 tweets from April 6, 2020, to April 13, 2020, which had hashtags relevant to the construction industry. The tweets were then analyzed to evaluate its sentiments polarity (positive or negative) and sentiment intensity or scores (-1 to +1). Descriptive statistics were produced for the tweets and the sentiment scores were visualized in a scatterplot to show the trend of the sentiment scores over time. The results shows that the overall sentiment score of all the tweets was slightly positive (0.0365). Negative tweets were retweeted and marked as favorite by more users on average than the positive ones. More specifically, the tweets with negative sentiments were retweeted by 2,802 users on average compared to the tweets with positive sentiments (247 average retweet count). This study can potentially be expanded in the future to produce a real time indicator of the construction market industry such as the increased availability of construction jobs, improved wage rates, and recession.

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Interactions between Collagen IV and Collagen-Binding Integrins in Renal Cell Repair after Sublethal Injury

  • Nony, Paul A,;Schnellmann, Rick G.
    • Proceedings of the Korea Environmental Mutagen Society Conference
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    • 2002.11a
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    • pp.80-88
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    • 2002
  • Recent studies demonstrate that collagen IV selectively pro-motes the repair of physiological processes in sublethally injured renal proximal tubular ceils (RPTC). We sought to further define the mechanisms of cell repair by measuring the effects of toxicant injury and stimulation of repair by L-ascorbic acid-2-phosphate (AscP), exogenous collagen IV, or function-stimulating integrin antibodies on the expression and subcellular localization of collagen-binding integrins (CBI) in RPTC. Expression of CBI subunits ${\alpha}_1$, ${\alpha}_2$, and ${\beta}_1$ in RPTC was not altered on day 1 after sublethal injury by S-(1,2-dichlorovinyl)-L-cysteine (DCVC). On day 6, expression of ${\alpha}_1$ and ${\beta}_1$ subunits remained unchanged, whereas a 2.2-fold increase in ${\alpha}_2$ expression was evident in injured RPTC. CBI localization in control RPTC was limited exclusively to the basal membrane. On day 1 after injury, RPTC exhibited a marked inhibition of active $Na^+$ transport and a loss of cell polarity characterized by a decrease in basal CBI localization and the appearance of CBI on the apical membrane. On day 6 after injury, RPTC still exhibited marked inhibition of active $Na^+$ transport and localization of CBI to the apical membrane. However, DCVC-injured RPTC cultured in pharmacological concentrations of AscP (500 ${\mu}$M)or exogenous collagen IV (50 ${\mu}$g/ml) exhibited an increase inactive $Na^+$ transport, relocalization of CBI to the basal membrane, and the disappearance of CBI from the apical membrane on day 6. Function-stimulating antibodies to CBI ${\beta}_1$ did not promote basal relocalization of CBI despite stimulating the repair of $Na^+$/$K^+$-ATPase activity on day 6 after injury. These data demonstrate that DCVC disrupts integrin localization and that physiological repair stimulated by AscP or collagen IV is associated with the basal relocalization of CBI in DCVC-injured RPTC. These data also suggest that CBI-mediated repair of physiological functions may occur independently of integrin relocalization.

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Selective Removal of Acetic Acid for the Effective Production of Succinic Acid using the Various Amino Extractants and Solvents (효율적 숙신산 생산을 위한 다양한 아민추출제와 용매를 이용한 아세트산의 선택적 추출제거)

  • Huh Yun Suk;Hong Yeon Ki;Jun Young-Si;Hong Won Hi
    • KSBB Journal
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    • v.20 no.3
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    • pp.238-243
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    • 2005
  • Succinic acid has recently been drawing much interest as a raw material for biodegradable polymer. In this study acetic acid was removed by reactive extraction with various amines dissolved in various diluents. Distribution coefficients were determined as the kind of amines, diluents, and pHs of continuous phase. The extraction capacity increased with the polarity of diluent and the decrease of pH from the artificial binary solution. Based on the different extractability for succinic acid and acetic acid from the artificial binary solution, the removal of acetic acid from fermentation broth was investigated using various amines and diluents. In addition, the extractability and selectivity of CLA for succinic acid and acetic acid from fermentation broth were higher than that of straight solvent extraction.

Development of a Sunscreen Formulation that Increases UV Blocking Ability by UV Light (자외선에 의해 자외선 차단 효율이 상승하는 선크림 제형 개발)

  • Choi, Minsung;Cho, Hyeongjin;Song, Kyunghee;Song, Seungjin;Kang, Nae-Gyu;Park, Sun-Gyoo
    • Journal of the Society of Cosmetic Scientists of Korea
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    • v.45 no.2
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    • pp.139-150
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    • 2019
  • This study is investigated sunscreen formulation that enhances UV absorption efficiency by UV light. Ethylhexyl methoxycinnamate (OMC) is one of the most common UV filters. Many studies have been conducted about photostability of OMC. It is well known that under the UV exposure, trans-OMC could turn to cis-OMC, or produce various photoproducts including its dimers. Those chemical structure changes were understood as the reason of a decrease in UV absorption efficiency upon UV exposure. However, it was found that OMC and isoamyl p-methoxycinnamate (IMC) could even enhance its UV absorption efficiency when it was exposed to UV light in an environment similar to actual use. In order to develop sunscreen formulation that enhances UV absorption efficiency by UV light, emollient with high polarity and compatibility should be avoided from the formular. Those emollient seemed to prevent OMC or IMC from producing photoproducts under UV light. Finally, a sunscreen formulation (UV sensing SPF boosting formular) enhancing UV absorption efficiency by UV was developed by the UV activated SPF boosting technology, and the effect of the sunscreen was evaluated. in vitro SPF of the sunscreen was increased from 50.69 to 72.33 when it was exposed to UV light and its in vivo SPF (53.7) was 56.10% higher than that of the control sunscreen (below 34.4).

Chemical and Spectroscopic Characterization of Soil Humic and Fulvic Acids and Sorption Coefficient of Phenanthrene: A Correlation Study (토양 휴믹물질의 화학적.분광학적 특성에 따른 페난트린 흡착상수와의 상관성 규명에 대한 연구)

  • Lee, Doo-Hee;Lee, Seung-Sik;Shin, Hyun-Sang
    • Journal of Korean Society of Environmental Engineers
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    • v.30 no.11
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    • pp.1067-1074
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    • 2008
  • In this study, the organic carbon normalized-sorption coefficients (Koc) for the binding affinity of phenanthrene (PHE) to 16 different soil humic and fulvic acids of various origins were determined by fluorescence quenching. The humic and fulvic acids used in this study were isolated from 6 different domestic soils including Mt. Hanla soil, IHSS standard soil and peat as well as Aldrich humic acid and characterized by elemental composition, ultraviolet absorption at 254 nm, composition of main structural fragments determined by CPMAS $^{13}$C NMR. The Koc values($\times$10$^4$, L/kg C) for each of HA and FA samples were in the range of 1.48$\sim$8.65 and higher in HA compared to that of FA(3.13$\sim$8.65 vs 1.48$\sim$2.48) in the experimental condition([PHE]/[HS] = 0.02$\sim$0.2(mg/L)/(mg-OC/L), pH 6). The correlation study between the structural descriptors of humic and fulvic acids and log Koc values of phenanthrene, show that the magnitude of Koc values positively correlated with the UV$_{254}$ absorptivity([ABS]$_{254}$) and two $^{13}$C NMR descriptors (C$_{Ar-H,C}$, $\sum$C$_{Ar}$/$\sum$C$_{Alk}$), while negatively correlated with the independent descriptors of the(N+O)/C atomic ratios and $^{13}$C NMR descriptors (I$_{C-O}$/I$_{C-H,C}$). These results confirmed that the binding affinity for the hydrophobic organic compound, phenanthrene are significantly influenced by the polarity and aromaticity of soil humc and fulvic acids.

Characterization of TRAF4 mRNA and Functions related to tight junction in pig (돼지에서 TRAF4 유전자 특성 및 Tight junction 관련 기능 분석)

  • Yun, Jeong-hee;Hwang, In-Sul;Hwang, Seongsoo;Park, Mi-Ryung
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.21 no.5
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    • pp.216-222
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    • 2020
  • Tumor necrosis factor receptor associated factor 4 (TRAF4) is found to be overexpressed in human breast cancer. It plays a role in cancer metastasis, production of reactive oxygen species, and cell polarity at membranes. The characteristics and functions of TRAF4 in pigs have not yet been identified. As the first step of research, the mRNA sequence of TRAF4 in porcine cells has been determined. To obtain the full-length sequence, rapid amplification of cDNA ends (RACE) has been carried out. Upon cloning, 2,030 bp of nucleotides were found to encode 470 amino acids, and 8 and 12 amino acids were different from those of the human and mouse TRAF4, respectively. The coding region of porcine TRAF4 was shown to be 93% and 90% homologous to human and mouse TRAF4, respectively. qPCR was conducted to determine the relative expression level of TRAF4. TRAF4 expression in pK15 was enhanced by cell-cell contacts. The mRNA levels of CLDN4, OCLN, and TJP1 at 60% and 80% confluency were significantly higher than at 40% confluency. Further, TRAF4 and tight junction-related genes were down-regulated upon treatment with TRAF4 siRNA. Thus, TRAF4 may affect the function of tight junctions in pig.

Investigation on Reaction Products From Oxidative Coupling Reactions of 1-Naphthol By Manganese Oxide (망간산화물에 의한 1-Naphthol의 산화-결합 반응에 따른 반응산물 연구)

  • Lim, Dong-Min;Lee, Doo-Hee;Kang, Ki-Hoon;Shin, Hyun-Snag
    • Journal of Korean Society of Environmental Engineers
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    • v.29 no.9
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    • pp.989-996
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    • 2007
  • In this study, abiotic transformation of 1-naphthol(1-NP) via oxidative-coupling reaction and its reaction products were investigated in the presence of Mn oxides. The reaction products were characterized for their relative polarity using solvent extraction experiment and reverse-phase HPLC, and for structure using CCMS and LC/MS, and for absorption characteristics using UV-Vis spectrometry. The reaction products present in aqueous phase were more polar than parent naphthol and comprised of 1,4-naphthoquinon(1,4-NPQ) and oligomers such as dimers and trimers. Hydrophilic component present in water phase after solvent$(CH_2Cl_2)$ extractions was identified as naphthol polymerized products having molecular weight(m/z) ranging from 400 to 2,000, and showed similar UV-Vis. absorption characteristics to that of foil fulvic acid. Transformation of 1,4-NPQ, which is non-reactive to Mn oxide, to the polymerized products via cross-coupling reaction in the presence of 1-NP was also verified. In this experimental conditions(20.5 mg/L, 1-NP, 2.5 g/L $MnO_2$, pH 5), the transformation of 1-NP into the oligomers and polymerized products were about 83% of initial 1-NP concentrations, and more than 30% of the reaction products was estimated to be water insoluble fractions, not extracted by $H_2O$ methanol. Results from this study suggest that Mn oxide-mediated treatment of naphthol contaminated soils can achieve risk reduction through the formation of oligomers md polymer precipitation.

Effect of Korean Red Ginseng on Blood Pressure and Aortic Vascular(endothelial) Histological Changes in Rats (홍삼이 정상 흰쥐의 혈압 및 대동맥 조직 소견 변화에 미치는 영향)

  • Joo, Il-Woo;Sung, Kyung-Hwa;Park, Jung-Min;Lew, Jae-Hwan;Oh, Han-Jin
    • Journal of Ginseng Research
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    • v.32 no.4
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    • pp.324-331
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    • 2008
  • Introduction : Korean red ginseng has been shown to have an preventive effect on atheroma formation and enhancing effect on nitric oxide synthesis in endothelial cell inducing vasodilatation. However, there are few studies showing the effect of Korean red ginseng on blood pressure and vascular(endothelial) pathologic changes together. We designed this study to show changes of blood pressure and vascular pathologic findings with Korean red ginseng administration compared with Chinese red ginseng and control for 3 months in rats. Materials and methods : We studied the in vitro hypotensive effect and effect on vascular pathologic changes of Korean red ginseng compared with Chinese red ginseng and control. Rats were randomly assigned to three groups(Korean red ginseng, Chinese red ginseng and control) and evaluated by blood pressure and aortic vascular(endothelial) pathologic changes monthly during 3-month administration. All results were analyzed by paired T-test, ANOVA and post-hoc. Results : Blood pressure lowering effect was noted on Korean red ginseng and Chinese red ginseng compared to control. Especially, in Korean red ginseng group, hypotensive effect was showed in first and second month, but, in Chinese red ginseng group, it was just noted in first month. In case of vascular(aortic endothelial) pathologic finding, endothelial wall thickening and elastic fiber tearing were noted in Chinese red ginseng group compared with Korean red ginseng group and control with statistical significance.(p<0.05) Discussion : These results suggested Korean red ginseng could have more hypotensive effect and maintenance rather than Chinese red ginseng. And the difference of hypotensive effect between Korean red ginseng and Chinese red ginseng might has some association with difference of vascular pathologic findings in each group. However, further evaluation and research of other mechanism will be needed to convince this hypothesis.

Antioxidative Effects of Ethanol Extracts from Rhus Verniciflua Stokes (RVS) on Mouse Whole Brain Cells (옻나무 에탄올 추출물의 쥐 뇌세포에 대한 항산화효과)

  • Lim, Kye-Taek;Shim, Jae-Han
    • Korean Journal of Food Science and Technology
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    • v.29 no.6
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    • pp.1248-1254
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    • 1997
  • To measure antioxidative activities, the various extracts from RVS (Rhus Verniciflua Stokes) were tried out with either DPPH or thiocyanate method. Also we used the GO (Glucose Oxidase) 20 mU/mL hydroxyl radical system in mouse whole brain cell culture. Chloroform, n-hexane or ethanol were used as extract solutions which had different polarity respectively. In DPPH and thiocyanate method, the antioxidative activities of the crude ethanol extracts were stronger than other extracts. The crude ethanol extracts were fractionated 5 peaks by glass column. Among of them, antioxidative activity of peak II $(P_{II})$ was shown stronger than other fractions, a little for peak III $(P_{III})$ and peak IV $(P_{IV})$, and none for peak I $(P_I)$ and Peak V $(P_V)$. In the antioxidative effects of crude ethanol extracts (30 mg/mL), cell viabilities were evaluated $1\;{\mu}L\;(297\;{\mu}g/mL)$, $2\;{\mu}L\;(588\;{\mu}g/mL)$ of crude ethanol extracts 59%, 68% respectively. $10\;{\mu}L\;(2,727\;{\mu}g/mL)$ addition of crude ethanol extracts had 95% cell viabilities, 0.01% significant, comparing control. In addition, the compounds related to antioxidative effect of crude ethanol extract might be glycoproteins by means of SDS-PAGE. Comparison to antioxidative effects between several antioxidants (ascorbic acid, ${\alpha}-tocopherol$, catalase) $273\;{\mu}L/mL$ addition of crude ethanol extracts corresponds to $1\;{\mu}g/mL$ catalase in antioxidative effects.

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