• Title/Summary/Keyword: deletion analysis

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A Study on the Link Server Development Using B-Tree Structure in the Big Data Environment (빅데이터 환경에서의 B-tree 구조 기반 링크정보 관리서버의 개발)

  • Park, Sungbum;Hwang, Jong Sung;Lee, Sangwon
    • Journal of Internet Computing and Services
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    • v.16 no.1
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    • pp.75-82
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    • 2015
  • Major corporations and portals have implemented a link server that connects Content Management Systems (CMS) to the physical address of content in a database (DB) to support efficient content use in web-based environments. In particular, a link server automatically connects the physical address of content in a DB to the content URL shown through a web browser screen, and re-connects the URL and the physical address when either is modified. In recent years, the number of users of digital content over the web has increased significantly because of the advent of the Big Data environment, which has also increased the number of link validity checks that should be performed in a CMS and a link server. If the link validity check is performed through an existing URL-based sequential method instead of petabyte or even etabyte environments, the identification rate of dead links decreases because of the degradation of validity check performance; moreover, frequent link checks add a large amount of workload to the DB. Hence, this study is aimed at providing a link server that can recognize URL link deletion or addition through analysis on the B-tree-based Information Identifier count per interval based on a large amount of URLs in order to resolve the existing problems. Through this study, the dead link check that is faster and adds lower loads than the existing method can be performed.

Methods for Handling Incomplete Repeated Measures Data (불완전한 반복측정 자료의 보정방법)

  • Woo, Hae-Bong;Yoon, In-Jin
    • Survey Research
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    • v.9 no.2
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    • pp.1-27
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    • 2008
  • Problems of incomplete data are pervasive in statistical analysis. In particular, incomplete data have been an important challenge in repeated measures studies. The objective of this study is to give a brief introduction to missing data mechanisms and conventional/recent missing data methods and to assess the performance of various missing data methods under ignorable and non-ignorable missingness mechanisms. Given the inadequate attention to longitudinal studies with missing data, this study applied recent advances in missing data methods to repeated measures models and investigated the performance of various missing data methods, such as FIML (Full Information Maximum Likelihood Estimation) and MICE(Multivariate Imputation by Chained Equations), under MCAR, MAR, and MNAR mechanisms. Overall, the results showed that listwise deletion and mean imputation performed poorly compared to other recommended missing data procedures. The better performance of EM, FIML, and MICE was more noticeable under MAR compared to MCAR. With the non-ignorable missing data, this study showed that missing data methods did not perform well. In particular, this problem was noticeable in slope-related estimates. Therefore, this study suggests that if missing data are suspected to be non-ignorable, developmental research may underestimate true rates of change over the life course. This study also suggests that bias from non-ignorable missing data can be substantially reduced by considering rich information from variables related to missingness.

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Relationship between Microdeletions on the Y Chromosome and Defect of Spermatogenesis (Y 염색체 미세결실과 정자형성장애의 연관성에 대한 연구)

  • Lee, Hyoung-Song;Choi, Hye-Won;Park, Yong-Seog;Koong, Mi-Kyoung;Kang, Inn-Soo;Yun, Jong-Min;Lee, You-Sik;Seo, Ju-Tae;Jun, Jin-Hyun
    • Clinical and Experimental Reproductive Medicine
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    • v.29 no.4
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    • pp.303-310
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    • 2002
  • Objective s: To estimate the frequency of Y chromosome microdeletions in the Korean population of infertile men and to evaluate the relationship between microdeletion on the Y chromosome and clinical phenotypes of infertile men with idiopathic azoospermia and oligozoospermia. Materials and Methods: Genomic DNA was extracted from blood samples collected from 330 infertile men attending the Infertility Clinic at Samsung Cheil Hospital, Korea. Six sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified by polymerase chain reactions (PCRs). Results: Microdeletions on Y chromosome were detected in 35 (10.6%) of the 330 infertile men. Most of the microdeletions (91.4%) involved AZFb or AZFc. The high incidence of microdeletions were found in AZFc region (57.1%), but the low in AZFa (8.6%) and AZFb (5.7%). Larger microdeletions involving two or three AZF regions were detected in 28.6% of cases. All patients (6 patients) with deletion of AZFa region showed no germ cell phenotypes, Sertoli cell only syndrome or Leydig cell hyperplasia in histopathologic examinations. Conclusion: Microdeletions on the Y chromosome, especially, at AZFc/DAZ regions may be the major cause of azoospermia and severe oligozoospermia. We suggest that idiopathic infertile men have genetic counselling and microdeletion analysis on the Y chromosome before IVF-ET and ART program.

Molecular genetic analysis of phytochelatin synthase genes in Arabidopsis

  • Ha, Suk-Bong
    • Proceedings of the Botanical Society of Korea Conference
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    • 2002.04a
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    • pp.62-72
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    • 2002
  • This study has investigated the biosynthesis and function of the heavy metal binding peptides, the phytochelatins, in plants. PCs are synthesised enzymatically from glutathione by the enzyme PC synthase in the presence of heavy metal ions. Using Arabidopsis thaliana as a model organism cadmium-sensitive, phytochelatin-deficient mutants have been isolated and characterised in previous studies. The cadl mutants have wildtype levels of glutathione, are PC deficient and lack PC synthase activity. Thus, the CADl gene has been proposed to encode PC synthase. The CADl gene was isolated by a positional cloning strategy The gene was mapped and a candidate identified. Each of four cadl mutants had a single base pair change in the candidate gene and the cadmium-sensitive, cadl phenotype was complemented by the candidate gene. This demonstrated the CADl gene had been cloned. A homologous gene in the fission yeast, Schizosaccharomyces pombe was identified through database searches. A targeted-deletion mutation of this gene was constructed and the mutant, like cadl mutants of Arabidopsis, was cadmium-sensitive and PC-deficient. A comparison of the redicted amino acid sequences reveals a highly conserved N-terminal region Presumed to be the catalytic domain and a variable C-terminal region containing multiple Cys residues proposed to be involved in activation of the enzyme by metal ions. Similar genes were also identified in animal species. The Arabidopsis CADl/AtPCSl and S. pombe SpbPCS genes were expressed in E. coli and were shown to be sufficient for glutathione-dependent, heavy metal activate PC synthesis in vitro, thus demonstrating these genes encode PC synthase enzymes. Using RT-PCR, AtPCSl expression appeared to be independent of Cd exposure. However, at higher levels of Cd exposure a AtPCSl-CUS reporter gene construct appeared to be more highly expressed. Using the reporter gene construct, AtPCSl was expressed most tissues. Expression appeared to be greater in younger tissues and same higher levels of expression was observed in some regions, including carpels and the base of siliques. AtPCS2 was a functional gene encoding an active PC synthase. However, its Pattern of expression and the phenotype of a mutant (or antisense line) have not been determined. Assuming the gene is functional then it has clearly been maintained through evolution and must provide some selective advantage. This implies that, at least in some cells or tissue, it is likely to be the dominant PC synthase expressed. This remains to be determined

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Tricho-dento-osseous Syndrome Mutant Dlx3 Shows Lower Transactivation Potential but Has Longer Half-life than Wild-type Dlx3

  • Cha, Ji-Hun;Ryoo, Hyun-Mo;Woo, Kyung-Mi;Kim, Gwan-Shik;Baek, Jeong-Hwa
    • International Journal of Oral Biology
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    • v.32 no.4
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    • pp.119-125
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    • 2007
  • Dlx3 is a homeodomain protein and is known to play a role in development and differentiation of many tissues. Deletion of four base pairs in DLX3 (NT3198) is causally related to tricho-dento-osseous (TDO) syndrome (OMIM #190320), a genetic disorder manifested by taurodontism, hair abnormalities, and increased bone density in the cranium. The molecular mechanisms that explain the phenotypic characteristics of TDO syndrome have not been clearly determined. In this study, we examined phenotypic characteristics of wild type DLX3(wtDlx3) and 4-BP DEL DLX3 (TDO mtDlx3) in C2C12 cells. To investigate how wtDlx3 and TDO mtDlx3 differentially regulate osteoblastic differentiation, reporter assays were performed by using luciferase reporters containing the promoters of alkaline phosphatase, bone sialoprotein or osteocalcin. Both wtDlx3 and TDO mtDlx3 enhanced significantly all the reporter activities but the effect of mtDlx3 was much weaker than that of wtDlx3. In spite of these differences in reporter activity, electrophoretic mobility shift assay showed that both wtDlx3 and TDO mtDlx3 formed similar amounts of DNA binding complexes with Dlx3 binding consensus sequence or with ALP promoter oligonucleotide bearing the Dlx3 binding core sequence. TDO mtDlx3 exhibits a longer half-life than wtDlx3 and it corresponds to PESTfind analysis result showing that potential PEST sequence was missed in carboxy terminal of TDO mtDlx3. In addition, co-immunoprecipitation demonstrated that TDO mtDlx3 binds to Msx2 more strongly than wtDlx3. Taken together, though TDO mtDlx3 acted as a weaker transcriptional activator than wtDlx3 in osteoblastic cells, there is possibility that during in vivo osteoblast differentiation TDO mtDlx3 may antagonize transcriptional repressor activity of Msx2 more effectively and for longer period than wtDlx3, resulting in enhancement of osteoblast differentiation.

Current Status of Response to Digital Child Sexual Slavery and Comparative Analysis of Overseas Crime Prediction System Using Artificial Intelligence (디지털 아동 성착취 대응현황과 해외 인공지능 범죄 예측 시스템 비교분석)

  • Kim, Hyejin
    • Journal of Digital Convergence
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    • v.18 no.7
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    • pp.357-368
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    • 2020
  • This study identifies the aspects and characteristics of 'Digital Sexual Crimes' that changed rapidly in recent years. It has identified the so-called "Telegram sexual harassment and exploitation" incident on the front page. We also want to analyze this and draw up policy suggestions that can help prepare social measures. In the wake of the Telegram sexual exploitation scandal, The National Assembly is quickly proposing related bills. However, the reality is that even a clear concept and definition of "Digital sexual Crimes" have not been made yet. The effective support system for victims is also insufficient. Therefore, this paper examines the definition and concept of child sexual exploitation and harassment. We will look at the features, causes, and conditions. In addition, it will examine the current status of Digital Sexual Crimes distribution and deletion of domestic, foreign platforms. Major foreign countries, including the U. S. A. refer to cases in which big data and artificial intelligence technologies are actively used to protect victims and track perpetrators.

Effect of hnRNP-like protein THO4 on growth and mRNA export in fission yeast (분열효모에서 hnRNP-유사 단백질인 THO4가 생장 및 mRNA 방출에 미치는 영향)

  • Park, Jin Hee;Lee, Sojeong;Yoon, Jin Ho
    • Korean Journal of Microbiology
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    • v.54 no.2
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    • pp.91-97
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    • 2018
  • The evolutionally conserved TREX complex member, Yra1/ALY, belongs to the REF (RNA and export factor binding proteins) family of hnRNP-like proteins, which has been implicated in multiple processes including transcription, nuclear RNA stability, and mRNA export. Fission yeast, Schizosaccharomyces pombe, genome encodes two members of REF proteins. In addition to Mlo3 known previously as an mRNA export factor, there is the other REF protein, Tho4, which is predicted as a component of THO complex. Here we showed that deletion of tho4 (SPBC106.12c) gene does not inhibit both growth and nuclear mRNA export. However, overexpression of tho4 displays growth retardation and slight accumulation of $poly(A)^+$ RNA in the nucleus. Neither ${\Delta}tho4$ ${\Delta}mlo3$ nor ${\Delta}tho4$ ${\Delta}mex67$ double mutants exhibit additive growth defect. Moreover, yeast two-hybrid and co-immunoprecipitation analysis did not show that the Tho4 protein interacted with any members of TREX complex and mRNA export factor Rae1. Contrary to expectation, these observations support that the S. pombe Tho4 is not a component of TREX complex, and not directly involved in bulk mRNA export from the nucleus.

Comparative Analysis of Peptide Nucleic Acid (PNA)-Mediated Real-Time PCR Clamping and DNA Direct Sequencing for EGFR Mutation Detection (EGFR 돌연변이 검출에 있어 PNA-Mediated Real-Time PCR Clamping과 직접 염기서열 분석법의 비교 분석)

  • Kim, Hee-Joung;Kim, Wan-Seop;Shin, Kyeong-Cheol;Lee, Gwan-Ho;Kim, Mi-Jin;Lee, Jeong-Eun;Song, Kyu-Sang;Kim, Sun-Young;Lee, Kye-Young
    • Tuberculosis and Respiratory Diseases
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    • v.70 no.1
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    • pp.21-27
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    • 2011
  • Background: Although the gold standard method for research trials on epidermal growth factor receptor (EGFR) mutations has been direct sequencing, this approach has the limitations of low sensitivity and of being time-consuming. Peptide nucleic acid (PNA)-mediated polymerase chain reaction (PCR) clamping is known to be a more sensitive detection tool. The aim of this study was to compare the detection rate of $EGFR$ mutation and EGFR-tyrosine kinase inhibitor (TKI) responsiveness according to $EGFR$ mutation status using both methodologies. Methods: Clinical specimens from 112 NSCLC patients were analyzed for $EGFR$ mutations in exons 18, 19, 20, and 21. All clinical data and tumor specimens were obtained from 3 university hospitals in Korea. After genomic DNA was extracted from paraffin-embedded tissue specimens, both PNA-mediated PCR clamping and direct-sequencing were performed. The results and clinical response to $EGFR$-TKIs were compared. Results: Sequencing revealed a total of 35 (22.9%) mutations: 8 missense mutations in exon 21 and 26 deletion mutations in exon 19. PNA-mediated PCR clamping showed the presence of genomic alterations in 45 (28.3%) samples, including the 32 identified by sequencing plus 13 additional samples (6 in exon 19 and 7 in exon 21). Conclusion: PNA-mediated PCR clamping is simple and rapid, as well as a more sensitive method for screening of genomic alterations in $EGFR$ gene compared to direct sequencing. This data suggests that PNA-mediated PCR clamping should be implemented as a useful screening tool for detection of $EGFR$ mutations in clinical setting.

Transgenic Efficiency of FoxN1-targeted Pig Parthenogenetic Embryos

  • Yeo, Jae-Hoon;Hwang, In-Sul;Park, Jae Kyung;Kwon, Dae-Jin;Im, Seoki;Park, Eung-Woo;Lee, Jeong-Woong;Park, Choon-Keun;Hwang, Seongsoo
    • Journal of Embryo Transfer
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    • v.29 no.4
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    • pp.339-344
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    • 2014
  • The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR associated protein (Cas9) system can be applied to produce transgenic pigs. Therefore, we applied CRISPR/Cas9 system to generate FoxN1-targeted pig parthenogenetic embryos. Using single guided RNA targeted to pig FoxN1 genes was injected into cytoplasm of in vitro matured oocyte before electrical activation. In results, regardless of the concentrations of vector, the cleavage rate were significantly (p<0.05) decreased ($4ng/{\mu}l$, 51.24%; $8ng/{\mu}l$, 40.88%; and $16ng/{\mu}l$; 45.22%) compared to no injection group (70.44%). The blastocyst formation rates were also decreased in vector injected 3 groups ($4ng/{\mu}l$, 7.96%; $8ng/{\mu}l$, 6.4%; and $16ng/{\mu}l$; 9.04%) compared to no injection group (29.07%). In addition, the blastocyst formation rates between sham injected group (13.51%) and no injection group (29.07%) also showed significant difference (p<0.05). The mutation rates were comparable between groups ($4ng/{\mu}l$, 18.4%; $8ng/{\mu}l$, 12.5%; and $16ng/{\mu}l$; 20.0%). The sequencing analysis showed that blastocysts derived from each group were successfully mutated in FoxN1 loci regardless of the vector concentrations. However, the deletion patterns were higher than the patterns of point mutation and insertion regardless of the vector concentrations. In conclusion, we described that cytoplasmic microinjection of FoxN1-targeted CRISPR/Cas9 vector could efficiently generate transgenic pig parthenogenetic embryos in one-step.

Prenatal diagnosis of a de novo ring chromosome 11

  • Park, Ju-Yeon;Lee, Moon-Hee;Lee, Bom-Yi;Lee, Yeon-Woo;Ryu, Hyun-Mee;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.80-83
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    • 2007
  • A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/ 45,XX,-11[16]/ 46,XX [34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine grow th restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring w ere detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.

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