• Title/Summary/Keyword: deletion analysis

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The necrotroph Botrytis cinerea promotes disease development in Panax ginseng by manipulating plant defense signals and antifungal metabolites degradation

  • Chen, Huchen;Zhang, Shuhan;He, Shengnan;A, Runa;Wang, Mingyang;Liu, Shouan
    • Journal of Ginseng Research
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    • v.46 no.6
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    • pp.790-800
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    • 2022
  • Background: Panax ginseng Meyer is one of the most valuable medicinal plants which is enriched in anti-microbe secondary metabolites and widely used in traditional medicine. Botrytis cinerea is a necrotrophic fungus that causes gray mold disease in a broad range of hosts. B. cinerea could overcome the ginseng defense and cause serious leaf and root diseases with unknown mechanism. Methods: We conducted simultaneous transcriptomic and metabolomic analysis of the host to investigate the defense response of ginseng affected by B. cinerea. The gene deletion and replacement were then performed to study the pathogenic gene in B. cinerea during ginseng - fungi interaction. Results: Upon B. cinerea infection, ginseng defense responses were switched from the activation to repression, thus the expression of many defense genes decreased and the biosynthesis of antifungal metabolites were reduced. Particularly, ginseng metabolites like kaempferol, quercetin and luteolin which could inhibit fungi growth were decreased after B. cinerea infection. B. cinerea quercetin dioxygenase (Qdo) involved in catalyzing flavonoids degradation and ∆BcQdo mutants showed increased substrates accumulation and reduced disease development. Conclusion: This work indicates the flavonoids play a role in ginseng defense and BcQdo involves in B. cinerea virulence towards the P. ginseng. B. cinerea promotes disease development in ginseng by suppressing of defense related genes expression and reduction of antifungal metabolites biosynthesis.

A Study on the Improvement of Administrative Information Data Set Operation of Private Universities (사립대학 행정정보 데이터세트 운영 개선 방안)

  • Kim, Hyunjung;Bae, Sungjung
    • The Korean Journal of Archival Studies
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    • no.74
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    • pp.187-222
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    • 2022
  • The aim of this study was to analyze the operation status of administrative information datasets of private universities and present improvement plans. For the system of private universities, the generation, correction, and deletion of functions, development types, and data were analyzed politically. As a result of the analysis, it has one or more administrative information systems and uses the academic management system in common, and the system is often developed on its own through the university's infrastructure, and data is deleted by the person in charge, but the regulations are not clear. To solve these problems, it was proposed to revise the EA portal to properly investigate the current status of the administrative information system of private universities, manage records centering on systems without data correction, and revise internal regulations to conduct education.

The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism

  • Jin Young Cho;Tae Kwan Lee;Yoo Mi Kim;Han Hyuk Lim
    • Journal of Genetic Medicine
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    • v.19 no.2
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    • pp.105-110
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    • 2022
  • The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual disability, autism spectrum disorder, hypotonia, and craniofacial dysmorphism. Previous studies have identified two critical regions: the proximal 2p15 and distal 2p16.1 regions. BCL11A, PAPOLG, and REL genes play crucial roles in patients with 2p16.1 microdeletion. To our knowledge, only 39 patients have been reported as having 2p15p16.1 microdeletion syndrome. Here, we present another patient with 2p15p16.1 microdeletion syndrome. A nine-month-old boy was referred to our clinic for the psychomotor delay, facial dysmorphism, and congenital hypothyroidism. During his follow-up visits, he was diagnosed with global developmental delay, intellectual disability, abnormal behavior, hypotonia, microcephaly, and abnormal electroencephalography. Using a chromosomal microarray for genetic analysis, a novel, de novo, 622 kb microdeletion of 2p16.1 was identified as one of the critical regions of the 2p15p16.1 microdeletion syndrome. This is the first case of its kind in Korea. We have discussed our case and literature reviews to clarify the relationship between the genes involved and clinical phenotypes in 2p15p16.1 microdeletion syndrome.

Blockchain-based Smart Meter Authentication Protocol in Smart Grid Environment (스마트 그리드 환경에서 블록체인 기반 스마트 미터 인증 프로토콜)

  • Jonghyun Kim;Myeonghyun Kim;Youngho Park
    • Journal of Korea Society of Industrial Information Systems
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    • v.28 no.5
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    • pp.41-54
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    • 2023
  • Smart grid that supports efficient energy production and management is used in various fields and industries. However, because of the environment in which services are provided through open networks, it is essential to resolve trust issues regarding security vulnerabilities and privacy preservation. In particular, the identification information of smart meter is managed by a centralized server, which makes it vulnerable to security attacks such as device stolen, data forgery, alteration, and deletion. To solve these problems, this paper proposes a blockchain based authentication protocol for a smart meter. The proposed scheme issues an unique decentralized identifiers (DIDs) for individual smart meter through blockchain and utilizes a random values based on physical unclonable function (PUF) to strengthen the integrity and reliability of data. In addition, we analyze the security of the proposed scheme using informal security analysis and AVISPA simulation, and show the efficiency of the proposed scheme by comparing with related work.

Genetic disruption of ATAT1 causes RhoA downregulation through abnormal truncation of C/EBPβ

  • Jee-Hye Choi;Jangho Jeong;Jaegu Kim;Eunae You;Seula Keum;Seongeun Song;Ye Eun Hwang;Minjoo Ji;Kwon-Sik Park;Sangmyung Rhee
    • BMB Reports
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    • v.57 no.6
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    • pp.293-298
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    • 2024
  • Microtubule acetylation has been shown to regulate actin filament dynamics by modulating signaling pathways that control actin organization, although the precise mechanisms remain unknown. In this study, we found that the downregulation of microtubule acetylation via the disruption ATAT1 (which encodes α-tubulin N-acetyltransferase 1) inhibited the expression of RhoA, a small GTPase involved in regulating the organization of actin filaments and the formation of stress fibers. Analysis of RHOA promoter and chromatin immunoprecipitation assays revealed that C/EBPβ is a major regulator of RHOA expression. Interestingly, the majority of C/EBPβ in ATAT1 knockout (KO) cells was found in the nucleus as a 27-kDa fragment (referred to as C/EBPβp27) lacking the N-terminus of C/EBPβ. Overexpression of a gene encoding a C/EBPβp27-mimicking protein via an N-terminal deletion in C/EBPβ led to competitive binding with wild-type C/EBPβ at the C/EBPβ binding site in the RHOA promoter, resulting in a significant decrease of RHOA expression. We also found that cathepsin L (CTSL), which is overexpressed in ATAT1 KO cells, is responsible for C/EBPβp27 formation in the nucleus. Treatment with a CTSL inhibitor led to the restoration of RHOA expression by downregulation of C/EBPβp27 and the invasive ability of ATAT1 KO MDA-MB-231 breast cancer cells. Collectively, our findings suggest that the downregulation of microtubule acetylation associated with ATAT1 deficiency suppresses RHOA expression by forming C/EBPβp27 in the nucleus through CTSL. We propose that CTSL and C/EBPβp27 may represent a novel therapeutic target for breast cancer treatment.

Delineating Transcription Factor Networks Governing Virulence of a Global Human Meningitis Fungal Pathogen, Cryptococcus neoformans

  • Jung, Kwang-Woo;Yang, Dong-Hoon;Maeng, Shinae;Lee, Kyung-Tae;So, Yee-Seul;Hong, Joohyeon;Choi, Jaeyoung;Byun, Hyo-Jeong;Kim, Hyelim;Bang, Soohyun;Song, Min-Hee;Lee, Jang-Won;Kim, Min Su;Kim, Seo-Young;Ji, Je-Hyun;Park, Goun;Kwon, Hyojeong;Cha, Sooyeon;Meyers, Gena Lee;Wang, Li Li;Jang, Jooyoung;Janbon, Guilhem;Adedoyin, Gloria;Kim, Taeyup;Averette, Anna K.;Heitman, Joseph;Cheong, Eunji;Lee, Yong-Hwan;Lee, Yin-Won;Bahn, Yong-Sun
    • 한국균학회소식:학술대회논문집
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    • 2015.05a
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    • pp.59-59
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    • 2015
  • Cryptococcus neoformans causes life-threatening meningoencephalitis in humans, but the treatment of cryptococcosis remains challenging. To develop novel therapeutic targets and approaches, signaling cascades controlling pathogenicity of C. neoformans have been extensively studied but the underlying biological regulatory circuits remain elusive, particularly due to the presence of an evolutionarily divergent set of transcription factors (TFs) in this basidiomycetous fungus. In this study, we constructed a high-quality of 322 signature-tagged gene deletion strains for 155 putative TF genes, which were previously predicted using the DNA-binding domain TF database (http://www.transcriptionfactor.org/). We tested in vivo and in vitro phenotypic traits under 32 distinct growth conditions using 322 TF gene deletion strains. At least one phenotypic trait was exhibited by 145 out of 155 TF mutants (93%) and approximately 85% of the TFs (132/155) have been functionally characterized for the first time in this study. Through high-coverage phenome analysis, we discovered myriad novel TFs that play critical roles in growth, differentiation, virulence-factor (melanin, capsule, and urease) formation, stress responses, antifungal drug resistance, and virulence. Large-scale virulence and infectivity assays in insect (Galleria mellonella) and mouse host models identified 34 novel TFs that are critical for pathogenicity. The genotypic and phenotypic data for each TF are available in the C. neoformans TF phenome database (http://tf.cryptococcus.org). In conclusion, our phenome-based functional analysis of the C. neoformans TF mutant library provides key insights into transcriptional networks of basidiomycetous fungi and ubiquitous human fungal pathogens.

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Correlation Between Primary Tuberculous Pleurisy and NRAMP1 Genetic Polymorphism (결핵성 흉막염 환자에서 NRAMP1 유전자 다형성에 대한 연구)

  • Kim, Je-Hyeong;Kim, Byung-Gyu;Jung, Ki-Hwan;Park, Sang-Myun;Lee, Sang-Youb;Lee, Sin-Hyung;Sin, Cheol;Cho, Jae-Youn;Shim, Jae-Jeong;In, Kwang-Ho;Yoo, Se-Hwa;Kang, Kyung-Ho
    • Tuberculosis and Respiratory Diseases
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    • v.48 no.2
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    • pp.155-165
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    • 2000
  • Background: The phagolysosomal function of alveolar macrophage against M. tuberculosis infection is influenced by Nramp1, which is encoded by the NRAMP1 gene. There are several genetic polymorphisms in NRAMP1, and these polymorphisms affect the innate host resistance through the defect in production and function of Nramp1. To investigate this relationship, the NRAMP1 genetic polymorphism in patients with primary tuberculous pleurisy was determined. Methods: Fifty-six primary tuberculous pleurisy patient, who were diagnosed by pleural biopsy, were designated to the pleurisy group and 45 healthy adults were designated to the healthy control group. Three genetic polymorphisms of NRAMP1, such as a single point mutation in intron 4(469+14G/C, INT4), a nonconservative single-base substitution at codon 543 that changes aspartic acid to asparagine(D543N) and a TGTG deletion in the 3' untranslated region(1729+55delI4, 3'UTR), were determined. Polymerase chain reaction(PCR) and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) were used. Results: The frequencies of mutant genotypes of INT4 and 3'UTR were significantly high in pleurisy group(p=0.001, p=0.023). But the frequencies of D543N were not significantly different between the two groups(p=0.079). The odds ratios, which are a comparison with wild genotype for determining mutant genotypes, were 8. 022(95% confidence interval=2.422-26.572) for INT4 and 5.733(95% confidence interval = 1.137~28.916) for 3'UTR ; these were statistically significant But the ratio for D543N was not significant In the combined analysis of the INT4 and 3'UTR polymorphisms, the odds ratios were 6.000(95% confidence interval = 1.461~24.640) for GC/++ genotype and 14.000(95% confidence interval=1.610~121.754) for GC/+del when compared with GG/++ homozygotes ; these were statistically significant. Conclusion: Among the NRAMP1 genetic polymorphisms, a single point mutation in intron 4(469+14G/C, INT4) and a TGTG deletion in the 3' untranslated region(1729+55del4, 3'UTR) were closely related to the primary tuberculous pleurisy.

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Characterization of Mutations in Bruton's Tyrosine Kinase(Btk) Gene from Unrelated 3 X-linked Agammaglobulinemia(XLA) Families in Korea (국내 X-관련성 범저감마글로불린혈증 세가족에 대한 Bruton's Tyrosine Kinase 단백질 발현 및 유전자 변이 분석)

  • Song, Chang-Hwa;Jo, Eun-Kyeong;Park, Jeong-Kyu;Kim, Jung-Soo;Hong, Soo-Jong;Lee, Jae-Ho
    • Clinical and Experimental Pediatrics
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    • v.45 no.3
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    • pp.302-310
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    • 2002
  • Purpose : X-linked agammaglobulinemia(XLA) is an immunodeficiency caused by abnormalities in Bruton's tyrosine kinase(Btk), and is characterized by a deficiency of peripheral blood B cells. We studied cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells(PBMC) from three XLA families in Korea. Methods : Heparinized venous blood samples were collected from four XLA patients and additional family members in three unrelated XLA families. Mononuclear cells were separated from their blood and the intracellular Btk protein was characterized by a flow cytometry. The mutation analysis was performed using direct sequencing. Results : Cytoplasmic expression of Btk protein in monocytes was not detected in the patients with XLA. We observed a novel deletion and two point mutations within introns(intron 1 and intron 18) resulting in alternative splicings. In XLA family 2, a 980 bp deletion(from intron 9+191 T to intron 10-215 C) including exon 10 was found in patient P2. He was the only sporadic case in this study, because his mother and brother showed a normal Btk expression by flow cytometry. Conclusion : These identified genetic alterations support the molecular heterogeneity of Btk gene in XLA disease. Additionally, by means of flow cytometric analysis, we diagnosed three hypogammaglobulinemia patients as XLA. Advancements in diagnostic methods has facilitated a prompt and definite diagnosis of this disease.

The Application of Dynamic Acquisition with Motion Correction for Static Image (동적 영상 획득 방식을 이용한 정적 영상의 움직임 보정)

  • Yoon, Seok-Hwan;Seung, Jong-Min;Kim, Kye-Hwan;Kim, Jae-Il;Lee, Hyung-Jin;Kim, Jin-Eui;Kim, Hyun-Joo
    • The Korean Journal of Nuclear Medicine Technology
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    • v.14 no.1
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    • pp.46-53
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    • 2010
  • Purpose: The static image of nuclear medicine study should be acquired without a motion, however, it is difficult to acquire static image without movement for the serious patients, advanced aged patients. These movements cause decreases in reliability for quantitative and qualitative analysis, therefore re-examination was inevitable in the some cases. Consequently, in order to improve the problem of motion artifacts, the authors substituted the dynamic acquisition technique for the static acquisition, using motion correction. Materials and Methods: A capillary tube and IEC body phantom were used. First, the static image was acquired for 60 seconds while the dynamic images were acquired with a protocol, 2 sec/frame${\times}$30 frames, under the same parameter and the frames were summed up into one image afterwards. Also, minimal motion and excessive motion were applied during the another dynamic acquisition and the coordinate correction was applied towards X and Y axis on the frames where the motion artifact occurred. But the severe blurred images were deleted. Finally, the resolution and counts were compared between the static image and the summed dynamic images which before and after applying motion correction, and the signal of frequency was analysed after frequency spatial domain was transformed into 2D FFT. Supplementary examination, the blind test was performed by the nuclear medicine department staff. Results: First, the resolution in the static image and summed dynamic image without motion were 8.32 mm, 8.37 mm on X-axis and 8.30 mm, 8.42 mm on Y-axis, respectively. The counts were 484 kcounts, 485 kcounts each, so there was nearly no difference. Secondly, the resolution in the image with minimal motion applying motion correction was 8.66 mm on X-axis, 8.85 mm on Y-axis and had 469 kcounts while the image without motion correction was 21.81 mm, 24.02 mm and 469 kcounts in order. So, this shows the image with minimal motion applying motion correction has similar resolution with the static image. Lastly, the resolution in the images with excessive motion applying motion correction were 9.09 mm on X-axis, 8.83 mm on Y-axis and had 469 kcounts while the image without motion correction was 47.35 mm, 40.46 mm and 255 kcounts in order. Although there was difference in counts because of deletion of blurred frames, we could get similar resolution. And when the image was transformed into frequency, the high frequency was decreased by the movement. However, the frequency was improved again after motion correction. In the blind test, there was no difference between the image applying motion correction and the static image without motion. Conclusion: There was no significant difference between the static image and the summed dynamic image. This technique can be applied to patients who may have difficulty remaining still during the imaging process, so that the quality of image can be improved as well as the reliance for analysis of quantity. Moreover, the re-examination rate will be considerably decreased. However, there is a limit of motion correction, more time will be required to successfully image the patients applying motion correction. Also, the decrease of total counts due to deletion of the severe blurred images should be calculated and the proper number of frames should be acquired.

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User assessment about ecological stream restoration of Jeonjucheon - Focused on Environmental Characteristics and Importance-Satisfaction Analysis - (전주천 생태하천복원사업 후 이용자 평가 - 환경특성 및 중요도·만족도 분석을 중심으로 -)

  • Lim, Hyunjeong;Lee, Myungwoo;Jeong, Moonsun
    • Journal of Environmental Impact Assessment
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    • v.24 no.3
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    • pp.217-232
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    • 2015
  • This study is to examine the section-based stream management with environmental characteristics and user monitoring. In Jeonjucheon, upstream section located near to Jeonju Hanok village has very good water quality and natural stream landscape. In case of mid/down streams, water quality is good and heavy concentration of facility leads to high use rates of these sections. The questionnaire consists of 5 parts: user characteristics, use behavior, citizen participation, importance rank, and Importance-Satisfaction(IS). 383 out of 454 responses with listwise deletion are used for demographic analysis and IS Analysis. In terms of citizen participation through 'ecological experience activity' and 'stream stewardship activity', 'occasional participation' shows the average of 78% in all three sections. For importance rank, the results arranged in order of priority show 'water quality' > 'green corridor' > 'trail' in up/down streams and 'water quality' > 'vegetation management' > 'trail' in midstream. Therefore, 'water quality' appears to be the most important variable among 13 variables. At last, the results of ISA indicate that all 10 variables need to be improved as satisfaction is lower than importance. In addition, 'plant management' variable falls into 'concentrate here' quadrant where importance is high and satisfaction is low.