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A case of Mowat-Wilson syndrome with developmental delays and Hirschsprung's disease

  • Lee, Darae;Kim, Ja Hye;Cho, Ja Hyang;Oh, Moon-Yun;Lee, Beom Hee;Kim, Gu-Hwan;Choi, Jin-Ho;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.11 no.2
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    • pp.79-82
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    • 2014
  • Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup ($p.S64Kfs^*6$). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.

A Combustion Analysis of Surface Fuel Burning Experiment According to Density Variation (밀도에 따른 지표 연료의 연소실험 분석)

  • Kim, Eung-Sik;Kim, Jang-Hwan;Kim, Dong-Hyun;Park, Hyung-Ju;Kim, Jeong-Hun
    • Fire Science and Engineering
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    • v.24 no.1
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    • pp.1-7
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    • 2010
  • This paper shows combustion characteristics of fallen leaves of Quercus variabilis and Pinus densiflora according to variation of mass densities. Combustion temperature, mass loss rate, flame height, duration of combustion and velocity of hot gas are measured and analyzed. For the experiment 10cm heighted baskets with varying diameters of 20, 30, 40 and 50cm are used for the combustion and the pilot ignition is carried on the top of the fuel. In case of Pinus densiflora mass loss rate, duration of flame, flame height and combustion time become larger as the mass density and diameter of basket increase, on the other hand Quercus variabilis shows saturation characteristics in mass loss rate and flame height. Velocity of hot gas is proportional to flame height.

TOSS: Telecom Operations Support Systems for Broadband Services

  • Chen, Yuan-Kai;Hsu, Chang-Ping;Hu, Chung-Hua;Lin, Rong-Syh;Lin, Yi-Bing;Lyu, Jian-Zhi;Wu, Wudy;Young, Hey-Chyi
    • Journal of Information Processing Systems
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    • v.6 no.1
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    • pp.1-20
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    • 2010
  • Due to the convergence of voice, data, and video, today's telecom operators are facing the complexity of service and network management to offer differentiated value-added services that meet customer expectations. Without the operations support of well-developed Business Support System/Operations Support System (BSS/OSS), it is difficult to timely and effectively provide competitive services upon customer request. In this paper, a suite of NGOSS-based Telecom OSS (TOSS) is developed for the support of fulfillment and assurance operations of telecom services and IT services. Four OSS groups, TOSS-P (intelligent service provisioning), TOSS-N (integrated large-scale network management), TOSS-T (trouble handling and resolution), and TOSS-Q (end-to-end service quality management), are organized and integrated following the standard telecom operation processes (i.e., eTOM). We use IPTV and IP-VPN operation scenarios to show how these OSS groups co-work to support daily business operations with the benefits of cost reduction and revenue acceleration.

Adsorption Characteristics and Kinetic Models of Ammonium Nitrogen using Biochar from Rice Hull in Sandy Loam Soil

  • Choi, Yong-Su;Kim, Sung-Chul;Shin, Joung-Du
    • Korean Journal of Soil Science and Fertilizer
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    • v.48 no.5
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    • pp.413-420
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    • 2015
  • Objective of this study was to investigate adsorption characteristics and kinetic models of $NH_4-N$ to biochar produced from rice hull in respective to mitigation of greenhouse gases. $NH_4-N$ concentration was analyzed by UV Spectrophotometer. For the experiment, the soil texture used in this study was sandy loam soil, and application rates of chemical fertilizer and pig compost were $420-200-370kgha^{-1}$ (N-P-K) and $5,500kgha^{-1}$ as recommended amount after soil test for corn cultivation. Biochar treatments were 0.2-5% to soil weight. Its adsorption characteristic was investigated with application of Langmuir isotherm, and pseudo-first order kinetic model and pseudo-second order kinetic model were used as kinetic models. Adsorption amount and removal rates of $NH_4-N$ were $39.3mg^{-1}$ and 28.0% in 0.2% biochar treatment, respectively. The sorption of $NH_4-N$ to biochar was fitted well by Langmiur model because it was observed that dimensionless constant ($R_L$) was 0.48. The maximum adsorption amount ($q_m$) and binding strength constant (b) were calculated as $4.1mgg^{-1}$ and $0.01Lmg^{-1}$ in Langmuir isotherm, respectively. The pseudo-second order kinetic model was more appropriate than pseudo-first order kinetic model for high correlation coefficient ($r^2$) of pseudo-second order kinetic model. Therefore, biochar produced from rice hull could reduce $N_2O$ by adsorbing $NH_4-N$ to biochar cooperated in sandy loam soil.

Enzymes and Their Reaction Mechanisms in Dimethylsulfoniopropionate Cleavage and Biosynthesis of Dimethylsulfide by Marine Bacteria

  • Do, Hackwon;Hwang, Jisub;Lee, Sung Gu;Lee, Jun Hyuck
    • Journal of Marine Life Science
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    • v.6 no.1
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    • pp.1-8
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    • 2021
  • In marine ecosystems, the biosynthesis and catabolism of dimethylsulfoniopropionate (DMSP) by marine bacteria is critical to microbial survival and the ocean food chain. Furthermore, these processes also influence sulfur recycling and climate change. Recent studies using emerging genome sequencing data and extensive bioinformatics analysis have enabled us to identify new DMSP-related genes. Currently, seven bacterial DMSP lyases (DddD, DddP, DddY, DddK, DddL, DddQ and DddW), two acrylate degrading enzymes (DddA and DddC), and four demethylases (DmdA, DmdB, DmdC, and DmdD) have been identified and characterized in diverse marine bacteria. In this review, we focus on the biochemical properties of DMSP cleavage enzymes with special attention to DddD, DddA, and DddC pathways. These three enzymes function in the production of acetyl coenzyme A (CoA) and CO2 from DMSP. DddD is a DMSP lyase that converts DMSP to 3-hydroxypropionate with the release of dimethylsulfide. 3-Hydroxypropionate is then converted to malonate semialdehyde by DddA, an alcohol dehydrogenase. Then, DddC transforms malonate semialdehyde to acetyl-CoA and CO2 gas. DddC is a putative methylmalonate semialdehyde dehydrogenase that requires nicotinamide adenine dinucleotide and CoA cofactors. Here we review recent insights into the structural characteristics of these enzymes and the molecular events of DMSP degradation.

Anti-inflammatory effect of Lycium barbarum on polarized human intestinal epithelial cells

  • Lee, So-Rok;Hwang, Hye-Jeong;Yoon, Ju-Gyeong;Bae, Eu-Young;Goo, Kyo-Suk;Cho, Sang-Joon;Cho, Jin Ah
    • Nutrition Research and Practice
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    • v.13 no.2
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    • pp.95-104
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    • 2019
  • BACKGROUND/OBJECTIVES: Inflammatory Bowel Disease (IBD) has rapidly escalated in Asia (including Korea) due to increasing westernized diet patterns subsequent to industrialization. Factors associated with endoplasmic reticulum (ER) stress are demonstrated to be one of the major causes of IBD. This study was conducted to investigate the effect of Lycium barbarum (L. barbarum) on ER stress. MATERIALS/METHODS: Mouse embryonic fibroblast (MEF) cell line and polarized Caco-2 human intestinal epithelial cells were treated with crude extract of the L. chinense fruit (LF). Paracellular permeability was measured to examine the effect of tight junction (TJ) integrity. The regulatory pathways of ER stress were evaluated in MEF knockout (KO) cell lines by qPCR for interleukin (IL) 6, IL8 and XBP1 spliced form (XBP1s). Immunoglobulin binding protein (BiP), XBP1s and CCAAT/enhancer-binding homologous protein (CHOP) expressions were measured by RT-PCR. Scanning Ion Conductance Microscopy (SICM) at high resolution was applied to observe morphological changes after treatments. RESULTS: Exposure to LF extract strengthened the TJ, both in the presence and absence of inflammation. In polarized Caco-2 pretreated with LF, induction in the expression of proinflammatory marker IL8 was not significant, whereas ER stress marker XBP1s expression was significantly increased. In wild type (wt) MEF cells, IL6, CHOP and XBP1 spliced form were dose-dependently induced when exposed to $12.5-50{\mu}g/mL$ extract. However, absence of XBP1 or $IRE1{\alpha}$ in MEF cells abolished this effect. CONCLUSION: Results of this study show that LF treatment enhances the barrier function and reduces inflammation and ER stress in an $IRE1{\alpha}$-XBP1-dependent manner. These results suggest the preventive effect of LF on healthy intestine, and the possibility of reducing the degree of inflammatory symptoms in IBD patients.

The application of multifunctional metal oxide for wastewater treatment: Adsorption and disinfection (다기능 금속산화물의 하수처리 적용-흡착 및 살균)

  • Kim, Heegon;Park, Duckshin;An, Byungryul
    • Journal of Korean Society of Water and Wastewater
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    • v.33 no.4
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    • pp.251-258
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    • 2019
  • The physical treatment such as chemical precipitation or adsorption was usually added after biological treatment in wastewater treatment process since it was enforced to reduce the concentration of phosphate for wastewater effluent to 0.2 mg/L as P which was well known as one of main nutrient causing eutrophication in waterbody. Therefore, the new material functioned for both adsorption and disinfection was prepared with Fe and Cu, and $TiO_2$, respectively, by changing the ratio of concentration referred to tri-metal (TM). According to SEM-EDS, $TiO_2$ was 30~40% composition for any TM regardless of any synthesis condition. However, the ratio of composition for Fe and Cu was dependent on the initial Fe and Cu concentration, respectively. The removal efficiency of phosphate was obtained to 15% at low initial concentration and the maximum uptake (Q) was calculated to ~11 mg/g through Langmuir isotherm model using TM1 which was synthesized at 1000 mg/L, 1000 mg/L, and 2 g (10 g/L) for $Fe(NO_3)_3$, $Cu(NO_3)_2$, $TiO_2$, respectively. In disinfection test, the efficiency of virus removal using TM was increased with increase of dosage of TM and can be reached 98% at 0.2 g.

An Enzymolysis-Assisted Agrobacterium tumefaciens-Mediated Transformation Method for the Yeast-Like Cells of Tremella fuciformis

  • Wang, Yuanyuan;Xu, Danyun;Sun, Xueyan;Zheng, Lisheng;Chen, Liguo;Ma, Aimin
    • Mycobiology
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    • v.47 no.1
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    • pp.59-65
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    • 2019
  • Agrobacterium tumefaciens-mediated transformation (ATMT), as a simple and versatile method, achieves successful transformation in the yeast-like cells (YLCs) of Tremella fuciformis with lower efficiency. Establishment of a more efficient transformation system of YLCs is important for functional genomics research and biotechnological application. In this study, an enzymolysis-assisted ATMT method was developed. The degradation degree of YLCs depends on the concentration and digestion time of Lywallzyme. Lower concentration (${\leq}0.1%$) of Lywallzyme was capable of formation of limited wounds on the surface of YLCs and has less influence on their growth. In addition, there is no significant difference of YLCs growth among groups treated with 0.1% Lywallzyme for different time. The binary vector pGEH under the control of T. fuciformis glyceraldehyde-3-phosphate dehydrogenase gene (gpd) promoter was utilized to transform the enzymolytic wounded YLCs with different concentrations and digestion time. The results of PCR, Southern blot, quantitative real-time PCR (qRT-PCR) and fluorescence microscopy revealed that the T-DNA was integrated into the YLCs genome, suggesting an efficient enzymolysis-assisted ATMT method of YLCs was established. The highest transformation frequency reached 1200 transformants per $10^6$ YLCs by 0.05% (w/v) Lywallzyme digestion for 15 min, and the transformants were genetically stable. Compared with the mechanical wounding methods, enzymolytic wounding is thought to be a tender, safer and more effective method.

Englerin A-sensing charged residues for transient receptor potential canonical 5 channel activation

  • Jeong, SeungJoo;Ko, Juyeon;Kim, Minji;Park, Ki Chul;Park, Eunice Yon June;Kim, Jinsung;Baik, Youngjoo;Wie, Jinhong;Cho, Art E.;Jeon, Ju-hong;So, Insuk
    • The Korean Journal of Physiology and Pharmacology
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    • v.23 no.3
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    • pp.191-201
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    • 2019
  • The transient receptor potential canonical (TRPC) 5 channel, known as a nonselective cation channel, has a crucial role in calcium influx. TRPC5 has been reported to be activated by muscarinic receptor activation and extracellular pH change and inhibited by the protein kinase C pathway. Recent studies have also suggested that TRPC5 is extracellularly activated by englerin A (EA), but the mechanism remains unclear. The purpose of this study is to identify the EA-interaction sites in TRPC5 and thereby clarify the mechanism of TRPC5 activation. TRPC5 channels are over-expressed in human embryonic kidney (HEK293) cells. TRPC5 mutants were generated by site-directed mutagenesis. The whole-cell patch-clamp configuration was used to record TRPC5 currents. Western analysis was also performed to observe the expression of TRPC5 mutants. To identify the EA-interaction site in TRPC5, we first generated pore mutants. When screening the mutants with EA, we observed the EA-induced current increases of TRPC5 abolished in K554N, H594N, and E598Q mutants. The current increases of other mutants were reduced in different levels. We also examined the functional intactness of the mutants that had no effect by EA with TRPC5 agonists, such as carbachol or $GTP{\gamma}S$. Our results suggest that the three residues, Lys-554, His-594, and Glu-598, in TRPC5 might be responsible for direct interaction with EA, inducing the channel activation. We also suggest that although other pore residues are not critical, they could partly contribute to the EA-induced channel activation.

Study on the Potential of Development of Materials for Bone Disease Improvement of Cudrania tricuspidata Leaf and Achyranthes japonica Nakai Complex (꾸지뽕나무 잎과 우슬 복합물의 골 질환 개선 소재 개발가능성에 대한 연구)

  • Cheong, Kil-Ho;Kim, Dong-Hee
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.35 no.5
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    • pp.169-176
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    • 2021
  • This study was conducted to suggest the Cudrania tricuspidata leaf and Achyranthes japonica Nakai Complex (CAC) possibility of use as a functional natural material for improving bone disease. Cudrania tricuspidata leaf and Achyranthes japonica Nakai were mixed in the same amount, extracted with hot water, and then powdered and used in the study. After, the cytotoxicity of CAC for osteoblasts (MG63 cell), osteoclasts (differentiated RAW264.7 cell), and macrophages (RAW264.7 cell) were evaluated by MTT assay, and ALP assay and TRAP assay were performed to confirm the differentiation capacity of osteoblasts and osteoclasts, respectively. In addition, the anti-inflammatory effect in macrophages was evaluated by ELISA, qRT-PCR, and western blot assay. CAC did not proliferated osteoblasts and osteoclasts, but increased ALP activity against osteoblasts differentiation and decreased TRAP activity against osteoclasts differentiation. CAC did not proliferated macrophages but decreased nitric oxide production. Also, decreased NOS2, IL1B, IL6, PTGS2, and TNFA gene expression, and JNK and p38 protein phosphorylation in a concentration-dependent manner, but ERK protein phosphorylation was not changed. As a result, CAC increased the differentiation and activation of osteoblasts, inhibited the differentiation and activation of osteoclasts, and regulated the expression of inflammatory cytokines in macrophages. Therefore, it is thought that CAC can be used as a functional natural material that prevents bone disease and has an anti-inflammatory effect.