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A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia

  • Son, Yu Yun;Lee, Byeonghyeon;Suh, Chae-Ri;Nam, Hyo-Kyoung;Lee, Jung Hwa;Hong, Young Sook;Lee, Joo Won
    • Journal of Genetic Medicine
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    • v.12 no.1
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    • pp.57-60
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    • 2015
  • CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.

Effect of Some Herbal Extracts on Entomopathogenic Nematodes, Silkworm and Ground Beetles (몇 가지 한약재 추출물이 곤충병원성선충과 누에 및 먼지벌레에 미치는 영향)

  • Lee, Dong-Woon;Choi, Hyeon-Cheol;Kim, Tae-Su;Park, Jong-Kyun;Park, Jung-Chan;Yu, Hwang-Bin;Lee, Sang-Myoung;Choo, Ho-Yul
    • Korean journal of applied entomology
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    • v.48 no.3
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    • pp.335-345
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    • 2009
  • Effect of four nematicidal herbal extracts (Daphne genkwa, Eugenia caryophyllata, Quisqualis indica and Zingiber officinale) and 3 acricidal herbal extracts (Pharbitis nil, Xanthium strumarium, and Desmodium caudatum) on entomopathobenic nematodes [Steinernema carpocapsae Pocheon strain (ScP) and Heterorhabditis sp. Gyeongsan strain (HG)], silkworm (Bombyx mori), and ground beetles (Synuchus sp.) were investigated in the laboratory and field. D. genkwa was highly toxic to SCP and HG (100% mortality) at the concentration of 5,000 ppm in X-plate. All the infective juveniles of HG were dead after 3 days by E. caryophyllata and Q. indica. The mortality of ScP and HG was below 10% by D. genkwa, D. caudatum, E. caryophyllata, Q. indica and Z. officinale at the concentration of 1,000 ppm two days after treatment while mortality of HG was 62.8% by D. genkwa at the concentration of 1,000 ppm in X-plate. However, 1,000 ppm had not effect on nematode survival and pathogenicity of ScP in sand column. On the contrary, E. caryophyllata had effect on pathogenicity of HG. Mean number of dead Galleria mellonella larva of HG was 0.5 in E. caryophyllata treatment. Q. indica did not effect silkworm reared on mulberry leaves at the treatment of 1,000 ppm in 10 days after treatment. However, there were 20.0 and 100% mortalities in the treatment of D. genkwa 3 and 10 days after treatment, respectively. The weight of silkworm was low in D. genkwa and did not pupate. The weight of pupa and cocoon were not different in E. caryophyllata, P. nil, Q. indica, X. strumarium and Z. officinale. D. genkwa, E. caryophyllata, P. nil, Q. indica and Z. officinale had no effect on ground beetles, Synuchus sp. in forest soil.

Molecular Dynamics Simulation Study for Ionic Strength Dependence of RNA-host factor Interaction in Staphylococcus aureus Hfq

  • Lazar, Prettina;Lee, Yun-O;Kim, Song-Mi;Chandrasekaran, Meganathan;Lee, Keun-Woo
    • Bulletin of the Korean Chemical Society
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    • v.31 no.6
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    • pp.1519-1526
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    • 2010
  • The behavior of peptide or protein solutes in saline aqueous solution is a fundamental topic in physical chemistry. Addition of ions can strongly alter the thermodynamic and physical properties of peptide molecules in solution. In order to study the effects of added ionic salts on protein conformation and dynamics, we have used the molecular dynamics (MD) simulations to investigate the behavior of Staphylococcus aureus Hfq protein under two different ionic concentrations: 0.1 M NaCl and 1.0 M NaCl in presence and absence of RNA (a hepta-oligoribonucleotide AU5G). Hfq, a global regulator of gene expression is highly conserved and abundant RNA-binding protein. It is already reported that in vivo the increase of ionic strength results in a drastic reduction of Hfq affinity for $Q{\beta}$ RNA and reduces the tendency of aggregation of Escherichia coli host factor hexamers. Our results revealed the crucial role of 0.1 M NaCl Hfq system on the bases with strong hydrogen bonding interactions and by stabilizing the aromatic stacking of Tyr42 residue of the adjacent subunits/monomers with the adenine and uridine nucleobases. An increase in RNA pore diameter and weakened compactness of the Hfq-RNA complex was clearly observed in 1.0 M NaCl Hfq system with bound RNA. Aggregation of monomers in Hfq and the interaction of Hfq with RNA are greatly affected due to the presence of high ionic strength. Higher the ionic concentration, weaker is the aggregation and interaction. Our results were compatible with the experimental data and this is the first theoretical report for the experimental study done in 1980 by Uhlenbeck group for the present system.

Chemical profile and antioxidant activity of peel of Yellowball, a novel citrus variety

  • Sun Lee;Seong-Ho Jo;Ji-Hyun An;Seong-man Jeong;Dong-Shin Kim;Sang Suk Kim;Suk Man Park;Su Hyun Yun;Seung-Gab Han;Hyun-Jin Kim
    • Food Science and Preservation
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    • v.30 no.2
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    • pp.235-246
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    • 2023
  • Yellowball (Citrus hybrid cv. Yellowball ) is a new citrus hybrid between Haruka (C. tamurana × natsudaidai ) and Kiyomi (C. unshiu × sinensis) and is known to possess strong antioxidant activity. However, detailed information on the antioxidant components of its peel has not yet been reported. This study evaluated the antioxidant activity of the peel and identified the antioxidant components by fractionating a methanolic extract of Yellowball peels using liquid-liquid extraction with n-hexane, ethyl ether (ether), ethyl acetate (EA), butanol, and water. The phenolic contents and antioxidant activities of the n-hexane, ether, and EA fractions were higher than those of the other fractions, and these fractions were further separated by semi-preparative high-performance liquid chromatography (HPLC). Four antioxidant peaks, EA1, EA2, EA3, and He1, were isolated and analyzed using ultra-performance liquid chromatography-quadrupole-time- of-flight mass spectrometry (UPLC-Q-TOF MS). Sinapoyl glucoside and hesperidin were identified in EA2 and EA3, respectively, and a polymethoxylated flavone (PMF) complex (5-hydroxy-3,6,7,8,3',4'-hexamethoxyflavone, natsudaidain, tetrameth- oxyflavone, and tangeretin) was identified in He1. A compound in EA1 with m/z 223.0246 [M-H] could not be identified and was named unknown2. The antioxidant activity of unknown2 (IC50=69.17 ㎍/mL) was similar to that of Trolox, which was noted as a major antioxidant in Yellowball peel. Further studies on the antioxidant capacity of Yellowball peel are required; however, these results provide a foundation for using Yellowball peel as an antioxidant.

Purification and Characterization of a Bacteriocin, BacBS2, Produced by Bacillus velezensis BS2 Isolated from Meongge Jeotgal

  • Perumal, Venkatesh;Yao, Zhuang;Kim, Jeong A;Kim, Hyun-Jin;Kim, Jeong Hwan
    • Journal of Microbiology and Biotechnology
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    • v.29 no.7
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    • pp.1033-1042
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    • 2019
  • Bacillus velezensis BS2 was isolated from meongge (common sea squirt) jeotgal, a Korean fermented seafood, and produces a bacteriocin, BacBS2, which strongly inhibits Listeria monocytogenes and Bacillus cereus. BacBS2 was partially purified by Q-Sepharose column chromatography after ammonium sulfate precipitation of the culture supernatant, then further purified by Sephadex G-50 column chromatography. Partially purified BacBS2 was estimated to be 6.5 kDa in size by Tricine-SDS PAGE and activity detection by gel-overlay. Enzyme treatment and FT-IR spectrum of partially purified BacBS2 confirmed its proteinaceous nature. BacBS2 was fully stable at pH 4-9, and half of activity was retained at pH 1-3. Full activity was retained after exposure to $80^{\circ}C$ for 15 min, but half of the activity was retained upon exposure to $90^{\circ}C$ for 15 min or $100^{\circ}C$for 10 min. BacBS2 inhibited L. monocytogenes by bactericidal mode of action. B. velezensis BS2 and its BacBS2 seem useful as biopreservatives for fermented foods such as jeotgal.

CARS에서 배경신호의 제거에 의한 분광선회복

  • 이은성
    • Korean Journal of Optics and Photonics
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    • v.4 no.4
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    • pp.457-463
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    • 1993
  • We investigated that the CARS signals generated from resonant or nonresonant contributions can be selectively suppressed by phase-controlled nonlinear interferometry. To control the phase of the CARS signal over a broad spectral range, a home-made phase shifting unit was used, whose thickness was automatically controlled as the wavelength of Stokes beam scaned. Using this technique, we recovered the Q-branch resonance lines of carbon monoxide and HC1 which had been distorted and buried by the nonresonant and resonant signal of propane respectively. All the spectrum measured have been normalized by reference signal which had no resonance lines over the spectral range of interest.

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Effects of Artificial CO2 Release in Soil on Chlorophyll Content and Growth of Pinus densiflora and Quercus variabilis Seedlings (토양 내 인위적인 이산화탄소 누출에 따른 소나무와 굴참나무 묘목의 엽록소 함량과 생장 반응)

  • Kim, Hyun-Jun;Han, Seung Hyun;Kim, Seongjun;Chang, Hanna;Son, Yowhan
    • Journal of Korean Society of Forest Science
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    • v.107 no.4
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    • pp.351-360
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    • 2018
  • This study was conducted to analyze the responses of chlorophyll contents and growth of Pinus densiflora and Quercus variabilis seedlings on distance from the well and $CO_2$ flux after the artificial $CO_2$ release. From June 1 to 30, 2016, $CO_2$ gas was injected at the rate of $6L\;min^{-1}$ at the study site in Eumseong. Chlorophyll content was analyzed in the middle of July, 2016, and root collar diameter (RCD), height (H), and biomass were measured in May and December, 2016 after planting 2-year-old P. densiflora and 1-year-old Q. variabilis seedlings in May, 2015. The chlorophyll content of P. densiflora seedlings did not show a significant correlation with $CO_2$ flux, whereas the chlorophyll content of Q. variabilis seedlings showed a significant negative correlation with increasing $CO_2$ flux (P<0.05). The RCD and H growth rates of both species showed the significant difference in the distance from the well of the $CO_2$ anthropogenic release treatment. In particular, the RCD and H growth rate of P. densiflora seedlings and the RCD growth rate of Q. variabilis seedlings increased significantly as the seedlings were closer to the well, but the H growth rate of Q. variabilis seedlings decreased significantly. In addition, as the $CO_2$ concentration in the ground increases, ${\Delta}R/S$ ratio increases in both species, suggesting that the high $CO_2$ concentration in the soil promotes carbon distribution relative to the root part. The results of this study can be used as data necessary to monitor the $CO_2$ leakage and physiological and growth responses of both species to leakage of stored $CO_2$ in the future.

Proteomic analysis of Korean ginseng(Panax ginseng C. A. Meyer) following exposure to salt stress

  • Kim, Sun-Tae;Bae, Dong-Won;Lee, Kyung-Hee;Hwang, Jung-Eun;Bang, Kyong-Hwan;Kim, Young-Chang;Kim, Ok-Tae;Yoo, Nam-Hee;Kang, Kyu-Young;Hyun, Dong-Yun;Lim, Chae-Oh
    • Journal of Plant Biotechnology
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    • v.35 no.3
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    • pp.185-193
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    • 2008
  • We evaluated the response to salt stress of two different ginseng lines, STG3134 and STG3159, which are sensitive and tolerant, respectively, to salt treatment. Plants were exposed to a 5 dS/m salt solution, and chlorophyll fluorescence was measured. STG3134 ginseng was more sensitive than STG3159 to salt stress. To characterize the cellular response to salt stress in the two different lines, changes in protein expression were investigated using a proteomic approach. Total protein was extracted from detached salt-treated leaves of STG3134 and STG3159 ginseng, and then separated by two-dimensional polyacrylamide gel electrophoresis(2-DE). Approximately 468 protein spots were detected by 2-DE and Coommassie brilliant blue staining. Twenty-two proteins were found to be reproducibly up- or down-regulated in response to salt stress. Among these proteins, twelve were identified using MALDI-TOF MS and ESI-Q-TOF and classified into several functional groups: photosynthesis-related proteins(oxygen-evolving enhancer proteins 1 and 2, rubisco and rubisco activase), detoxification proteins(polyphenol oxidase) and defense proteins($\beta$-1,3-glucanase, ribonuclease-like storage protein, and isoflavone reductase-like protein). The protein levels of ribonuclease-like storage protein, which was highly induced in STG3159 ginseng as compared to STG3134, correlated tightly with mRNA transcript levels, as assessed by reverse-transcription(RT)-PCR. Our results indicate that salinity induces changes in the expression levels of specific proteins in the leaves of ginseng plants. These changes may, in turn, playa role in plant adaptation to saline conditions.

Distribution of ion channels in trigeminal ganglion neuron of rat (흰쥐 삼차신경절 뉴론의 이온통로의 분포에 관한 연구)

  • Kim, Ae-Kyung;Choi, Kyoung-Kyu;Choi, Ho-Young
    • Restorative Dentistry and Endodontics
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    • v.27 no.5
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    • pp.451-462
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    • 2002
  • 삼차신경은 구강악안면영역의 운동 및 감각을 담당하고 있으므로 치과임상에서 매우 중요하다. 삼차신경근 중 삼차신경절에 세포체를 갖는 뉴론은 주로 체성 감각을 전달하는 1차 구심신경으로 악안면영역의 촉각, 압각, 진동감각 온도각 및 통각을 담당한다. 이러한 감각의 전달은 기본적으로 신경세포의 이온통로의 활동에 의존하는데 삼차신경절 세포에 여러 종류의 이온통로가 존재하는 것으로 알려져 있다. 본 연구에서는 항체 염색법을 이용하여 이온통로가 존재를 확인 하고자 한다. 횐쥐의 삼차신경절로부터 통법에 따라 뉴론을 단일 세포로 분리하고 immunocytochemistry 방법으로 세포를 염색하여 관찰한 바 다음과 같은 결과를 얻었다. 본 실험에서 이온전류의 측정 등으로 관찰된 여러 종류의 이온통로들을 면역 염색법으로 확인하였다. 횐쥐의 삼차신경절 뉴론에서 확인된 이온통로는 소디움통로와 N, P 및 Q-type의 칼슘통로 그리고 BK$_{Ca}$, Kv 4.2 및 Kir 2.1 등의 포타슘통로이었으며 이온통로의 종류에 따라 분포에 차이를 나타내었다.

Methanol extract of Elsholtzia fruticosa promotes 3T3-L1 preadipocyte differentiation

  • Deumaya Shrestha;Eunbin Kim;Krishna K. Shrestha;Sung-Suk Suh;Sung-Hak Kim;Jong Bae Seo
    • Journal of Animal Science and Technology
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    • v.66 no.1
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    • pp.204-218
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    • 2024
  • Elsholtzia fruticosa (EF) is present in tropical regions throughout South Asian countries as well as the Himalayas. Although it has been used as a traditional medicine to treat digestive, respiratory, and inflammatory issues, its effect on preadipocyte differentiation is unknown. In this study, we examined the effects of a methanol extract prepared from EF on the differentiation of 3T3-L1 preadipocytes. Cell differentiation was assessed by microscopic observation and oil-red O staining. The expression of adipogenic and lipogenic genes, including PPARγ and C/EBPα, was measured by western blot analysis and quantitative real-time polymerase chain reaction (qRT-PCR), to provide insight into adipogenesis and lipogenesis mechanisms. The results indicated that EF promotes the differentiation of 3T3-L1 preadipocytes, with elevated lipid accumulation occurring in a concentration-dependent manner without apparent cytotoxicity. EF enhances the expression of adipogenic and lipogenic genes, including PPARγ, FABP4, adiponectin, and FAS, at the mRNA and protein levels. The effect of EF was more pronounced during the early and middle stages of 3T3-L1 cell differentiation. Treatment with EF decreased C/EBP homologous protein (CHOP) mRNA and protein levels, while increasing C/EBPα and PPARγ expression. Treatment with EF resulted in the upregulation of cyclin E and CDK2 gene expression within 24 h, followed by a decrease at 48 h, demonstrating the early-stage impact of EF. A concomitant increase in cyclin-D1 levels was observed compared with untreated cells, indicating that EF modulates lipogenic and adipogenic genes through intricate mechanisms involving CHOP and cell cycle pathways. In summary, EF induces the differentiation of 3T3-L1 preadipocytes by increasing the expression of adipogenic and lipogenic genes, possibly through CHOP and cell cycle-dependent mechanisms.