• Title/Summary/Keyword: 단백질 기능 예측

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A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia (한국인 쇄골 두개 이형성증 가족에서의 RUNX2 유전자 돌연변이)

  • Lee, Ji Won;Song, Jisoo;Shin, Teo Jeon;Hyun, Hong-Keun;Kim, Young-Jae;Lee, Sang-Hoon;Kim, Jongbin;Kim, Jung-Wook
    • Journal of the korean academy of Pediatric Dentistry
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    • v.46 no.4
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    • pp.409-415
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    • 2019
  • Cleidocranial dysplasia (CCD) is an autosomal-dominant disease characterized by the delayed closure of cranial sutures, defects in clavicle formation, supernumerary teeth, and delayed tooth eruption. Defects in the Runt-related transcription factor 2 (RUNX2), a master regulator of bone formation, have been identified in CCD patients. The aim of this study was to identify the molecular genetic causes in a CCD family with delayed tooth eruption. The 23-year-old female proband and her mother underwent clinical and radiographic examinations, and all coding exons of the RUNX2 were sequenced. Mutational analysis revealed a single nucleotide deletion mutation (NM_001024630.4 : c.357delC) in exon 3 in the proband and her mother. The single C deletion would result in a frameshift in translation and introduce a premature stop codon [p.(Asn120Thrfs*24)]. This would result in the impaired function of RUNX2 protein, which may be the cause of delayed eruption of permanent teeth in the family.

Expression of Immortalization-upregulated Proteins-2 (IMUP-2) in Placenta (태반 내 Immortalization-upregulated Proteins-2 (IMUP-2) 발현)

  • Jeon, Su-Yeon;Lee, Hyun-Jung;Jung, Hyun-Min;Kim, Jin-Kyeoung;Kim, Gi-Jin
    • Clinical and Experimental Reproductive Medicine
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    • v.36 no.3
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    • pp.163-174
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    • 2009
  • Objectives: Members of the immortalization-upregulated protein (IMUP) family are nuclear proteins implicated in SV40-mediated immortalization and cellular proliferation, but the mechanisms by which their expression is regulated are still unknown in placenta. To investigate to expression and functions of IMUPs in placenta, we conducted to compare IMUPs expression in normal and preeclamptic placenta tissues and analyzed the function of IMUP-2 in HTR-8/SVneo trophoblast cells after IMUP-2 gene transfection. Methods: The expression of IMUPs was analyzed in placental tissues from the following groups of patients (none underwent labor): 1) term normal placenta (n=15); 2) term with preeclamptic placeneta (n=15); and 3) pre-term with preeclamptic placenta (n=11) using semi-quantitative RT-PCR, RNA in situ hybiridization, immunohistochemistry, and Western blot. In order to evaluate the function of IMUP-2 in HTR-8/SVneo trophoblast cells, IMUP-2 plasmids were transfected into HTR-8/SVneo trophoblast cells for 24 hours. Results: We observed that IMUPs are mainly expressed in the syncytiotrophoblasts and syncytial knot of placental villi. The expression of IMUP-1 was not differences between normal and preeclamptic placenta tissues. However, IMUP-2 expression was significantly higher in preterm preeclamptic placenta tissues than in normal placenta tissues without labor (p<0.001). Furthermore, we confirmed overexpression of IMUP-2 induced apoptosis in HTR-8/SVneo trophoblast cells through up-regulation of pro-apoptotic proteins. Conclusions: These results suggest that the expression of IMUP-2 is involved in placental development as well as increased IMUP-2 expression is associated with preeclampsia through the inducing of trophoblast apoptosis.

Research about feature selection that use heuristic function (휴리스틱 함수를 이용한 feature selection에 관한 연구)

  • Hong, Seok-Mi;Jung, Kyung-Sook;Chung, Tae-Choong
    • The KIPS Transactions:PartB
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    • v.10B no.3
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    • pp.281-286
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    • 2003
  • A large number of features are collected for problem solving in real life, but to utilize ail the features collected would be difficult. It is not so easy to collect of correct data about all features. In case it takes advantage of all collected data to learn, complicated learning model is created and good performance result can't get. Also exist interrelationships or hierarchical relations among the features. We can reduce feature's number analyzing relation among the features using heuristic knowledge or statistical method. Heuristic technique refers to learning through repetitive trial and errors and experience. Experts can approach to relevant problem domain through opinion collection process by experience. These properties can be utilized to reduce the number of feature used in learning. Experts generate a new feature (highly abstract) using raw data. This paper describes machine learning model that reduce the number of features used in learning using heuristic function and use abstracted feature by neural network's input value. We have applied this model to the win/lose prediction in pro-baseball games. The result shows the model mixing two techniques not only reduces the complexity of the neural network model but also significantly improves the classification accuracy than when neural network and heuristic model are used separately.

Gene Expression Profiling by RNA Sequencing in Mature/Immature Oocytes of Chicken (닭의 성숙/미성숙란에서 RNA Sequencing을 이용한 유전자 발현 양상 고찰)

  • Kang, Kyung-Soo;Jang, Hyun-Jun;Park, Mi Na;Choi, Jung-Woo;Chung, Won-Hyong;Heo, Kang-Nyeong;Choe, Chang-Yong;Kim, Young-Joo;Lee, Si-Woo;Cho, Eun-Seok;Kim, Namshin;Kim, Tae-Hun;Han, Jae-Yong;Lee, Kyung-Tai
    • Korean Journal of Poultry Science
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    • v.41 no.4
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    • pp.287-296
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    • 2014
  • Chicken eggs undergo various physiological changes during egg maturation. To study genes associated with the egg maturation in pre-ovulation (immature) and post-ovulation (mature), we compared gene expression patterns between in the immature egg and mature egg using RNA sequencing data. Mature and immature eggs were obtained from a Heuksaek Jaerae-jong of Korean native chicken. Total RNAs obtained from the eggs were sequenced by Illumina HiSeq 2000 platform, and the generated sequence reads were mapped to Galgal4 reference sequence assembly using Tuxedo Protocol. From the comparison of the RNA sequencing data, 315 genes were differentially expressed between mature and immature eggs, and 46 genes were only detected in immature egg. Further gene ontology (GO) analysis was performed for the differentially expressed genes using DAVID, showing that 29 and 28 GO terms were independently clustered from mature and immature, respectively. From those clustered GO terms, genes related to germ cell development, sex differentiation and defense response to bacterium were mainly expressed in the immature egg, while genes related to regulation of apoptosis, steroid metabolic process and lipid homeostasis were mainly detected in the mature egg. Our results could contribute to understand egg maturation before and after ovulation, and develop genetic markers for improving egg quality and productivity.

Euphorbiae Immifusae Sensitizes Apoptosis of TRAIL-resistant Human Gastric Adenocarcinoma AGS Cells (지금초 추출물에 의한 TRAIL 저항성 인체위암세포의 세포사멸 유도)

  • Lee, Jae-Jun; Shin, Dong-Hyuk;Park, Sang-Eun;Kim, Won-Il;Park, Dong-Il;Choi, Yung-Hyun;Hong, Sang-Hoon
    • Journal of Life Science
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    • v.18 no.1
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    • pp.120-128
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    • 2008
  • The death ligand tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)/ Apo1L is a cytokine that activates apoptosis through cell surface death receptors. TRAIL has sparked growing interest in oncology due to its reported ability to selectively trigger cancer cell death. Euphorbiae humifusae Wind has been used in traditional Oriental medicine as a folk remedy used for the treatment of cancer. However, the mechanism responsible for the anticancer effects of E. humifusae not clearly understood. Here, we show that treatment with subtoxic doses of water extract of E. humifusae (WEEH) in combination with TRAIL induces apoptosis in TRAIL-resistant human gastric carcinoma AGS cells. Combined treatment with WEEH and TRAIL induced chromatin condensation and sub-G1 phase DNA content. These indicators of apoptosis were correlated with the induction of caspase activity that resulted in the cleavage of poly (ADP-ribose) polymerase. Combined treatment also triggered the loss of mitochondrial membrane potential. Furthermore, co-treatment with WEEH and TRAIL down-regulated the protein levels of the anti-apoptotic proteins such as Bcl-2, Bcl-xL, XIAP and cIAP-1. Although more study will be needed to examine the detailed mechanisms, this combined treatment may offer an attractive strategy for safely treating gastric adenocarcinomas and the results provide important new insights into the possible molecular mechanisms of the anticancer activity of E. humifusae.

The Effects of Saengshik on the Hepatotoxicity of Mouse Induced by Carbon Tetrachloride (사염화탄소에 의해 유발된 생쥐의 간독성에 생식이 미치는 영향)

  • Kim, Dong-Heui;Deung, Young-Kun;Lee, Young-Mi;Yoon, Yang-Suk;Lee, Kyu-Jae
    • Applied Microscopy
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    • v.37 no.1
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    • pp.11-21
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    • 2007
  • Saengshik which is food not to apply heat is expected to have good effect on the body because metabolic enzymes are preserved in it. In fact, despite of enlargement of saengshik market, the researches on the effect of saengshik are insufficient. So, the aim of this study was to investigate the protective effect of saengshik against $CCl_4-inducing$ hepatotoxicity in ICR mice. As the result of serum biochemical parameters, AST (SGOT) and ALT (SGPT) were significantly decreased at the experimental group treated with saengshik and $CCl_4$ as compared with experimental group 1 treated with $CCl_4$ only (p<0.01). ALP was significantly higher at experimental group 2 compared with control and experimental group 1 (p<0.01). In histological study, experimental group 1 treated with $CCl_4$ only showed severe necrosis all over the liver at the gross observation, and showed severe perivenular necrosis and individual hepatocytic degeneration. However experimental group 2 was not nearly different from control group in appearance and showed mild perivenular necrosis and dominant sever neutrophil infiltration surrounding central veins. The result of this study showed the protective effect against $CCl_4-inducing$ hepatotoxicity and suggest the possibility of the functional health food. However, further studies about the effect of saengshik may be needed.

Torque and mechanical failure of orthodontic micro-implant influenced by implant design parameters (교정용 마이크로 임플란트의 디자인이 토오크와 파절강도에 미치는 영향)

  • Yu, Won-Jae;Kyung, Hee-Moon
    • The korean journal of orthodontics
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    • v.37 no.3 s.122
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    • pp.171-181
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    • 2007
  • Objective: The present study was aimed at an analytical formulation of the micro-implant related torque as a function of implant size, i.e. the diameter and length, screw size, and the bony resistance at the implant to bone interface. Methods: The resistance at the implant to cancellous bone interface $(S_{can})$ was assumed to be in the range of 1.0-2.5 MPa. Micro-implant model of Absoanchor (Dentos Inc. Daegu, Korea) was used in the course of the analysis. Results: The results showed that the torque was a strong function of diameter, length, and the screw height. As the diameter increased and as the screw size decreased, the torque index decreased. However the strength index was a different function of the implant and bone factors. The whole Absoanchor implant models were within the safe region when the resistance at the implant/cancellous bone $(=S_{can})$ was 1.0 or less. Conclusion: For bone with $S_{can}$ of 1.5 MPa, the cervical diameter should be greater than 1.5 mm if micro-implant models of 12 mm long are to be placed. For $S_{can}$ of 2.0 MPa, micro-implant models of larger cervical diameter than 1.5 mm were found to be safe only if the endosseous length was less than 8 mm.

Clinical Indices Predicting Resorption of Pleural Effusion in Tuberculous Pleurisy (결핵성 늑막염에서 삼출액의 흡수에 영향을 미치는 임상적 지표)

  • Lee, Joe-Ho;Chung, Hee-Soon;Lee, Jeong-Sang;Cho, Sang-Rok;Yoon, Hae-Kyung;Song, Chee-Sung
    • Tuberculosis and Respiratory Diseases
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    • v.42 no.5
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    • pp.660-668
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    • 1995
  • Background: It is said that tuberculous pleuritis responds well to anti-tuberculous drug in general, so no further aggressive therapeutic management is unnecesarry except in case of diagnostic thoracentesis. But in clinical practice, we often see some patients who need later decortication due to dyspnea caused by pleural loculation or thickening despite several months of anti-tuberculous drug therapy. Therefore, we want to know the clinical difference between a group who received decortication due to complication of tuberculous pleuritis despite of anti-tuberculous drug and a group who improved after 9 months of anti-tuberculous drug only. Methods: We reviewed 20 tuberculous pleuritis patients(group 1) who underwent decortication due to dyspnea caused by pleural loculation or severe pleural thickening despite of anti-tuberculous drug therapy for 9 or more months, and 20 other tuberculous pleuritis patients(group 2) who improved by anti-tuberculous drug only and had similar degrees of initial pleural effusion and similar age, sex distribution. Then we compared between the two groups the duration of symptoms before anti-tuberculous drug treatment and pleural fluid biochemistry like glucose, LDH, protein and pleural fluid cell count and WBC differential count, and we also wanted to know whether there was any difference in preoperative PFT value and postoperative PFT value in the patients who underwent decortication, and obtained following results. Results: 1) Group 1 patients had lower glucose level{$63.3{\pm}30.8$(mg/dl)} than that of the group 2{$98.5{\pm}34.2$(mg/dl), p<0.05}, and higher LDH level{$776.3{\pm}266.0$(IU/L)} than the group 2 patients{$376.3{\pm}123.1$(IU/L), p<0.05}, and also longer duration of symptom before treatment{$2.0{\pm}1.7$(month)} than the group 2{$1.1{\pm}1.2$(month), p<0.05}, respectively. 2) In group 1, FVC changed from preoperative $2.55{\pm}0.80$(L) to postoperative $2.99{\pm}0.78$(L)(p<0.05), and FEV1 changed from preoperative $2.19{\pm}0.70$(L/sec) to postoperative $2.50{\pm}0.69$(L/sec)(p<0.05). 3) There was no difference in pleural fluid protein level($5.05{\pm}1.01$(gm/dL) and $5.15{\pm}0.77$(gm/dl), p>0.05) and WBC differential count between group 1 and group 2. Conclusion: It is probable that in tuberculous pleuritis there is a risk of complication in the case of showing relatively low pleural fluid glucose or high LDH level, or in the case of having long duraton of symptom before treatment. We thought prospective study should be performed to confirm this.

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