• Title/Summary/Keyword: Genetic evaluation

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Glyco-engineering strategies for the development of therapeutic enzymes with improved efficacy for the treatment of lysosomal storage diseases

  • Oh, Doo-Byoung
    • BMB Reports
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    • v.48 no.8
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    • pp.438-444
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    • 2015
  • Lysosomal storage diseases (LSDs) are a group of inherent diseases characterized by massive accumulation of undigested compounds in lysosomes, which is caused by genetic defects resulting in the deficiency of a lysosomal hydrolase. Currently, enzyme replacement therapy has been successfully used for treatment of 7 LSDs with 10 approved therapeutic enzymes whereas new approaches such as pharmacological chaperones and gene therapy still await evaluation in clinical trials. While therapeutic enzymes for Gaucher disease have N-glycans with terminal mannose residues for targeting to macrophages, the others require N-glycans containing mannose-6-phosphates that are recognized by mannose-6-phosphate receptors on the plasma membrane for cellular uptake and targeting to lysosomes. Due to the fact that efficient lysosomal delivery of therapeutic enzymes is essential for the clearance of accumulated compounds, the suitable glycan structure and its high content are key factors for efficient therapeutic efficacy. Therefore, glycan remodeling strategies to improve lysosomal targeting and tissue distribution have been highlighted. This review describes the glycan structures that are important for lysosomal targeting and provides information on recent glyco-engineering technologies for the development of therapeutic enzymes with improved efficacy. [BMB Reports 2015; 48(8): 438-444]

Pediatric approach to early detection of learning disabilities (학습장애의 조기 발견을 위한 소아과적 접근)

  • Sung, In Kyung
    • Clinical and Experimental Pediatrics
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    • v.51 no.9
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    • pp.911-921
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    • 2008
  • Learning disabilities (LD) are heterogeneous group of disorders with evidences of genetic or familial trait, intrinsic to the individual and presume to be due to central nervous dysfunction. Learning disabilities and attention deficit hyperactivity disorder (ADHD) are the two of the most common disorders in the population of school-age children. Typically academic achievements in children with learning disabilities are significantly lower than expected by their normal or above normal range of IQ. Although academic and cognitive deficits are hallmarks of children with LD, those children are also at risk for a broad range of behavioral and emotional problems. Almost all cases meet criteria for at least one additional diagnosis such as ADHD, developmental coordination disorder, depression, anxiety, obsessive compulsive disorder, tic disorder, among which ADHD is particularly predominant. Because of the response to the therapeutic intervention program is promising and positive when applied early, it is critical to recognize patients as early as possible. Pediatricians often are the first to hear from parents worried about a childs academic progress. It is not the responsibility of pediatrician to make a diagnosis, referring children for a diagnostic evaluation of LD is a reasonable first step. Pediatricians can make early referral of suspicious children by asking some serial short questions about basic and processing skills. With a basic knowledge about the clinical characteristics, diagnostic and therapeutic procedures of LD, pediatricians also can provide primary counseling and education for parents at their outpatient clinical settings.

A Genotoxicological Safety Evaluation of Crude Antifungal Compounds Produced by Lactobacillus Plantarum AF1 and Lactobacillus Plantarum HD1 (Lactobacillus plantarum AF1와 Lactobacillus plantarum HD1이 생성한 조항균 물질의 유전학적 독성평가)

  • Chang, Hae-Choon;Koh, Sang-Bum;Lee, Jae-Joon
    • The Korean Journal of Community Living Science
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    • v.26 no.4
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    • pp.633-645
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    • 2015
  • This study investigates the genotoxicity of crude antifungal compounds produced by Lactobacillus plantarum AF1 (L.plantarum AF1) and Lactobacillus plantarum HD1 (L. plantarum HD1) isolated from kimchi. The genetic toxicity of crude antifungal compounds was evaluated in bacterial reverse mutation in Salmonella and Escherichia spp., chromosome aberrations in Chinese hamster lung cells, and micronucleous formations in mice. In bacterial reversion assays with Salmonella Typhimurium TA98, TA100, TA1535, TA1537, and WP2uvrA, crude antifungal compounds did not increase the number of revertant colonies in both the absence and presence of the 59 metabolic activation system. In the chromosome aberration test with Chinese hamster lung cells, crude antifungal compounds showed no increase in the frequency of chromosome aberrations in the short-period test with/without the S9 mix or in the continuos test. In the in vivo mouse micronucleus assay, crude antifungal compounds showed no increase in the frequency of polychromatic erythrocytes with micronuclei. The results show that crude antifungal compounds produced by L. plantarum AF1 and L. plantarum HD1 did not induce any genotoxicity.

Current status of development and event-dependent genetic analysis of genetically modified crops in Korea (우리나라의 유전변명작물 개발 현황 및 사상-종속 유전 분석)

  • Jeong, Soon-Chun
    • Journal of Plant Biotechnology
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    • v.35 no.1
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    • pp.23-29
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    • 2008
  • Development of genetically modified crops using modern biotechnology is regarded as a promising way to combat with ever-increasing human population. Korea attempted to develop its own genetically modified crops essentially for the past 20 years, however no example of commercialization has been announced. Here, I briefly summarized current status of development and risk assessment of genetically modified crops in Korea. Then, I attempted to identify a death valley in the process of commercialization. Based on experience of risk assessment of 15 different genetically modified organisms, I suggested that lack of the screening of elite events may serve as a death valley.

A Metabolomic Approach to Understanding the Metabolic Link between Obesity and Diabetes

  • Park, Seokjae;Sadanala, Krishna Chaitanya;Kim, Eun-Kyoung
    • Molecules and Cells
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    • v.38 no.7
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    • pp.587-596
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    • 2015
  • Obesity and diabetes arise from an intricate interplay between both genetic and environmental factors. It is well recognized that obesity plays an important role in the development of insulin resistance and diabetes. Yet, the exact mechanism of the connection between obesity and diabetes is still not completely understood. Metabolomics is an analytical approach that aims to detect and quantify small metabolites. Recently, there has been an increased interest in the application of metabolomics to the identification of disease biomarkers, with a number of well-known biomarkers identified. Metabolomics is a potent approach to unravel the intricate relationships between metabolism, obesity and progression to diabetes and, at the same time, has potential as a clinical tool for risk evaluation and monitoring of disease. Moreover, metabolomics applications have revealed alterations in the levels of metabolites related to obesity-associated diabetes. This review focuses on the part that metabolomics has played in elucidating the roles of metabolites in the regulation of systemic metabolism relevant to obesity and diabetes. It also explains the possible metabolic relation and association between the two diseases. The metabolites with altered profiles in individual disorders and those that are specifically and similarly altered in both disorders are classified, categorized and summarized.

Molecular Nuclear imaging of Angiogenesis (혈관신생 분자핵의학 영상)

  • Lee, Kyung-Han
    • The Korean Journal of Nuclear Medicine
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    • v.38 no.2
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    • pp.171-174
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    • 2004
  • Angiogenesis, the formation of new capillaries from existing vessels, increases oxygenation and nutrient supply to ischemic tissue and allows tumor growth and metastasis. As such, angiogenesis targeting provides a novel approach for cancer treatment with easier drug delivery and less drug resistance. Therapeutic anti-angiogenesis has shown impressive effects in animal tumor models and are now entering clinical trials. However, the successful clinical introduction of this new therapeutic approach requires diagnostic tools that can reliably measure angiogenesis in a noninvasive and repetitive manner. Molecular imaging is emerging as an exciting new discipline that deals with imaging of disease on a cellular or genetic level. Angiogenesis imaging is an important area for molecular imaging research, and the use of radiotracers offers a particularly promising technique for its development. While current perfusion and metabolism radiotracers can provide useful information related to tissue vascularity, recent endeavors are focused on the development of novel radioprobes that specifically and directly target angiogenic vessels. Presently available proges include RGD sequence containing peptides that target ${\alpha}_v\;{\beta}_3$ integrin, endothelial growth factors such as VEGF or FGF, metalloptoteinase inhibitors, and specific antiangiogenic drugs. It is now clear that nuclear medicine techniques have a remarkable potential for angiogenesis imaging, and efforts are currently continuing to develop new radioprobes with superior imaging properties. With future identification of novel targets, design of better probes, and improvements in instrumentation, radiotracer angiogenesis imaging promises to play an increasingly important role in the diagnostic evaluation and treatment of cancer and other angiogenesis related diseases.

Analysis of Differentially Expressed Proteins in Bovine Longissimus Dorsi and Biceps Femoris Muscles

  • Kim, S.M.;Park, M.Y.;Seo, K.S.;Yoon, D.H.;Lee, H.-G.;Choi, Y.J.;Kim, S.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.10
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    • pp.1496-1502
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    • 2006
  • Skeletal muscle contains slow and fast twitch fibers. These skeletal muscle fibers express type I and type II myosin, respectively, and these myosin isoenzymes have different ATPase activity. The aim of this study was to investigate protein profiles of bovine skeletal muscles by proteomic analysis. Fifty seven spots of distinct proteins were excised and characterized. The expression of sixteen spots was differed in longissimus dorsi muscle with a minimal 2-fold change compared to biceps femoris muscle. The majority of differentially expressed proteins belonged to metabolic regulation-related proteins such as glyceraldehyde 3-phosphate dehydrogenase, triosephosphate isomerase and carbonic anhydrase 3. The real time-PCR assay confirmed an increase or induction of specific genes: RGS12TS isoform, GAPDH, triosephosphate isomerase and carbonic anhydrase. These results suggest that the expression of metabolic proteins is under a specific control system in different bovine skeletal muscle. These observations could have significant implications for understanding the physiological regulation of bovine skeletal muscles.

A Study on Image Recommendation System based on Speech Emotion Information

  • Kim, Tae Yeun;Bae, Sang Hyun
    • Journal of Integrative Natural Science
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    • v.11 no.3
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    • pp.131-138
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    • 2018
  • In this paper, we have implemented speeches that utilized the emotion information of the user's speech and image matching and recommendation system. To classify the user's emotional information of speech, the emotional information of speech about the user's speech is extracted and classified using the PLP algorithm. After classification, an emotional DB of speech is constructed. Moreover, emotional color and emotional vocabulary through factor analysis are matched to one space in order to classify emotional information of image. And a standardized image recommendation system based on the matching of each keyword with the BM-GA algorithm for the data of the emotional information of speech and emotional information of image according to the more appropriate emotional information of speech of the user. As a result of the performance evaluation, recognition rate of standardized vocabulary in four stages according to speech was 80.48% on average and system user satisfaction was 82.4%. Therefore, it is expected that the classification of images according to the user's speech information will be helpful for the study of emotional exchange between the user and the computer.

Evaluation of Lettuce Germplasm Resistance to Gray Mold Disease for Organic Cultivations

  • Shim, Chang Ki;Kim, Min Jeong;Kim, Yong Ki;Jee, Hyeong Jin
    • The Plant Pathology Journal
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    • v.30 no.1
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    • pp.90-95
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    • 2014
  • This study was conducted to evaluate the resistance of 212 accessions of lettuce germplasm to gray mold disease caused by Botrytis cinerea. The lettuce germplasm were composed of five species: Lactuca sativa (193 accessions), L. sativa var. longifolia (2 accessions), L. sativa var. crispa (2 accessions), L. saligna (2 accessions), and L. serriola (1 accession); majority of these originated from Korea, Netherlands, USA, Russia, and Bulgaria. After 35 days of spray inoculation with conidial suspension ($3{\times}10^7$ conidia/ml) of B. cinerea on the surface of lettuce leaves, tested lettuce germplasm showed severe symptoms of gray mold disease. There were 208 susceptible accessions to B. cinerea counted with 100% of disease incidence and four resistant accessions, IT908801, K000598, K000599, and K021055. Two moderately resistant accessions of L. sativa, K021055 and IT908801, showed 20% of disease incidence of gray mold disease at 45 days after inoculation; and two accessions of L. saligna, K000598 and K000599, which are wild relatives of lettuce germplasm with loose-leaf type, showed complete resistance to B. cinerea. These four accessions are candidates for breeding lettuce cultivars resistant to gray mold disease.

Application and evaluation of PD diagnostic algorithm for 3-phase in one enclosure type GIS (3상 일괄형 GIS 부분방전 진단 알고리즘 적용 및 평가)

  • Kim, Seong-Il;Choi, Young-Chan;Jung, Seung-Wan;Baek, Byung-San;Kwon, Joong-Lok;Hong, Cheol-Yong
    • Proceedings of the KIEE Conference
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    • 2008.07a
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    • pp.1374-1375
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    • 2008
  • 본 논문은 3상 일괄형 GIS의 부분방전 진단을 위해 새롭게 개발한 진단 알고리즘에 관한 것이다. 진단 알고리즘 개발을 위해, 먼저 실시간 부분방전 데이터를 행벡터 및 열벡터로 구성하고 각각의 벡터에서 통계 특징량 및 질감 특징량을 추출하였다. 다음으로 이들 특징량을 GA-NN(Genetic Algorithm - Neural Network) 학습에 적용하여 진단 알고리즘을 구성하였다. 또한 진단 알고리즘의 위상독립성은 부분방전 신호의 위상변화에 관계없이 진단결과가 일치하는 것을 확인함으로써 검증하였다. 개발한 진단알고리즘의 실증 평가를 위해, 부분방전이 발생되고 있는 국내 3상 일괄형 GIS 변전소에 적용하였다. 적용 결과, 위상에 관계없이 부분방전 발생원을 정확히 진단함을 확인하였고, 이를 통해 개발 알고리즘의 우수성을 입증하였다.

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