• Journal of Genetic Medicine
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• 제17권1호
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• pp.43-46
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• 2020

The Shprintzen-Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI. SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is sometimes quite challenging in practice because it has diverse clinical features involving skeletal, neurological, and cardiovascular system. Here we report a case of a 6-month-old boy who initially presented with developmental delay and marfanoid facial features including prominent forehead, hypertelorism, high arched palate and retrognathia. He showed motor developmental delay since birth and could not control his head at the time of first evaluation. His height was above 2 standard deviation score. Arachnodactyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. Sequencing for FBN1 was negative, however, a novel missense variant, c.350G>A in SKI was identified by sequential whole exome sequencing. To our knowledge, this is the first case with SGS with phenotypic features of SGS overlapping with those of the Marfan syndrome, diagnosed by next generation sequencing in Korea.

• 한국식품위생안전성학회지
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• 제29권4호
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• pp.383-390
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• 2014

The safety of a new natural plant composition (ADP) was assessed on the genotoxicity study and 14-day repeat dose toxicity study. ADP contains a mixed water extract obtained from the mixture of Phellodendron cortex (Phellodendron amurense) and Anemarrhena rhizoma (Anemarrhena asphodeloides), and poses the contractile properties mediated by alpha-adrenoceptor of the prostate and urethra as well as antioxidant and anti-inflammatory properties. In order to evaluate genetic safety, in vivo micronucleus test was performed in ICR mice orally administered with three dose levels of 1250, 2500, 5000 mg/kg body weight, and vehicle and positive control. In the 14 days study, Sprague-Dawley rats were treated with ADP at the dose levels of 500, 1000, 2000 mg/kg once a day, and clinical signs, body weights, hematology, serum biochemistry, necropsy findings and organ weights were monitored and examined. In experimental results, ADP treatment, compared with vehicle control, did not induce the micronucleated erythrocytes from mouse bone marrow. In the 14 days study, any significant and toxicological differences in all measurements of parameters were not observed in ADP treatment groups of animals, compared with vehicle treatment. The No-Observed-Adverse-Effect-Level (NOAEL) of ADP in the 14 days study was determined to be greater than 2000 mg/kg/day in both sexes.

• 융합보안논문지
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• 제18권5_1호
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• pp.59-66
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• 2018

기계학습을 이용하는 침입 탐지 시스템의 성능은 특징 집합의 구성과 크기에 크게 좌우된다. 탐지율과 같은 시스템의 탐지 정확도는 특징 집합의 구성에, 학습 및 탐지 시간은 특징 집합의 크기에 의존한다. 따라서 즉각적인 대응이 필수인 침입 탐지 시스템의 실시간 탐지가 가능하도록 하려면, 특징 집합은 크기가 작으면서도 적절한 특징들로 구성하여야 한다. 본 논문은 실시간 탐지를 위한 특징 집합 선택 문제를 해결하기 위해 사용했던 기존의 다목적 유전자 알고리즘에 특징 간의 Pearson 상관계수를 함께 사용하면 탐지율을 거의 낮추지 않으면서도 특징 집합의 크기를 줄일 수 있음을 보인다. 제안한 방법의 성능평가를 위해 NSL_KDD 데이터를 사용하여 10가지 공격 유형과 정상적인 트래픽을 구별하도록 인공신경망을 설계, 구현하여 실험한다.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.102-106
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• 2018

Aggrecan is a proteoglycan in the extracellular matrix of growth plate and cartilaginous tissues. Aggrecanopathy has been reported as a genetic cause not only for severe skeletal dysplasia but also for autosomal dominant short stature with normal to advanced bone age. We report a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature identified through targeted exome sequencing. We present a girl of 4 years and 9 months with a family history of short stature over three generations. The paternal grandmother is 143 cm tall (-3.8 as a Korean standard deviation score [SDS]), the father 155 cm (-3.4 SDS), and the index case 96.2 cm (-2.9 SDS). Evaluation for short stature showed normal growth hormone (GH) peaks in the GH provocation test and a mild delayed bone age for chronological age. This subject had clinical characteristics including a triangular face, flat nasal bridge, prognathia, blue sclerae, and brittle teeth. The targeted exome sequencing was applied to detect autosomal dominant growth palate disorder. The novel variant c.910G>A (p.Asp304Asn) in ACAN was identified and this variant was found in the subject's father using Sanger sequencing. This is the first case of Korean familial short stature due to ACAN mutation. ACAN should be considered for proportionate idiopathic short stature, especially in cases of familial short stature.

• 한국산림과학회지
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• 제100권3호
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• pp.494-503
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• 2011

본 연구는 백두대간보호지역에 IUCN 보호지역 관리 카테고리 시스템을 시범적으로 적용하여, 백두대간보호지역 내 중복지정된 다양한 보호지역을 IUCN 관리 카테고리로 재분류하고자 수행되었다. 카테고리 적용을 위한 분류키를 개발하고 각 보호지역의 지정 목적에 근거하여 적합한 IUCN 카테고리로 분류하였다. 국립공원을 포함한 산림보호지역 관리자와 관련 전문가를 대상으로 의견을 수렴한 결과, 현재 카테고리 IV로 일괄 분류된 백두대간보호지역을 개별 보호지역의 지정목적을 살리는 방향으로 분류하는 것이 더 타당함이 제시되었다. 예컨대 원시림 유형으로 지정된 산림유전자원보호구역을 카테고리 Ia로 하고 나머지 유형은 IV로, 과거 보안림 중 경관보호구역으로 명칭이 변경된 곳은 V로 분류하고 나머지는 VI으로 분류하는 등의 방안이 제시되었다. 향후 세계보호지역데이터베이스(WDPA)에 백두대간보호지역 카테고리 재조정 등록과 더불어 국가적 차원에서 산림보호지역의 관리효과성 평가와 IUCN 카테고리별 분류 및 WDPA에 등록이 이루어져야 할 필요성을 제안하였다.

• 한국정보통신학회논문지
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• 제23권10호
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• pp.1248-1253
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• 2019

재난 상황 시 대피 경로를 유도하기 위해 대부분의 건물 등의 구조물에서는 중앙통제센터나 안전요원의 안내 및 대피 경로 유도등을 통해 대피 경로를 안내하고 있다. 하지만 규모가 커지고 갈수록 내부 구조가 복잡해짐에 따라 비상 상황 시 안전을 보장할 수 있는 지능적 안내 시스템의 필요성이 증가하고 있다. 따라서 경로 탐색 알고리즘에 기반한 지능적 대피경로 탐색 및 안내 시스템이 제안되었고, 구조물 내 설치된 센서 노드로부터 수집된 상황 정보를 기반으로 중앙 서버에서 각 위치별 최적의 경로를 제시하는 방식으로 대피 유도가 이루어졌다. 그러나 대피자의 효과적인 대피와 함께 중요한 부분이 구조자의 효율적인 구조활동이다. 현재까지 대피자의 대피 경로 유도에 대한 연구는 다양하게 이루어져왔으나, 구조자의 효율적 진입 경로 탐색에 대한 연구는 전무하였다. 따라서 본 논문에서는 센서 네트워크 환경에서 유전 알고리즘을 적용한 구조자 진입 경로 탐색 방안에 대해 제안하였다. 제안된 방식의 실효성을 검증하기 위해 컴퓨터 시뮬레이션을 통해 제안된 방식의 성능을 검증하였고, 그 결과 작업량 기준의 적응도 평가 시 적응도가 일정 시간 내에 수렴되었으며, 각 출구별 이동하는 노드의 비율로 환산한 출구집중도 역시 최대값과 최소값 차이가 현저하게 감소하였다.

• 한국군사과학기술학회지
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• 제25권6호
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• pp.617-627
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• 2022

Military training is an essential item for the fundamental problem of war. However, there has always been a problem that many resources are consumed, causing spatial and environmental pollution. The concepts of defense modeling and simulation and CGF(Computer Generated Force) using computer technology began to appear to improve this problem. The Naval Operations, Resources Analysis Model(NORAM) developed by the Republic of Korea Navy is also a DEVS(Discrete Event Simulation)-based naval virtual force analysis model. The current NORAM is a battle experiment conducted by an operator, and parameter values such as maneuver and armament operation for individual objects for each situation are evaluated. In spite of our research conducted evolutionary, supervised, reinforcement learning, in this paper, we introduce our design of a scenario creation model based on evolutionary learning using genetic algorithms. For verification, the NORAM is loaded with our model to analyze wartime engagements. Human-level tactical scenario creation capability is secured by automatically generating enemy tactical scenarios for human-designed Blue Army tactical scenarios.

• The Plant Pathology Journal
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• 제38권1호
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• pp.1-11
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• 2022

Fusarium culmorum is one of the most important causal agents of root rot of wheat. In this study, 10 F. culmorum isolates were collected from farms located in five agro-ecological regions of Morocco. These were used to challenge 20 durum wheat genotypes via artificial inoculation of plant roots under controlled conditions. The isolate virulence was determined by three traits (roots browning index, stem browning index, and severity of root rot). An alpha-lattice design with three replicates was used, and the resulting ANOVA revealed a significant (P < 0.01) effect of isolate (I), genotype (G), and G × I interaction. A total of four response types were observed (R, MR, MS, and S) revealing that different genes in both the pathogen and the host were activated in 53% of interactions. Most genotypes were susceptible to eight or more isolates, while the Moroccan cultivar Marouan was reported resistant to three isolates and moderately resistant to three others. Similarly, the Australian breeding line SSD1479-117 was reported resistant to two isolates and moderately resistant to four others. The ICARDA elites Icaverve, Berghisyr, Berghisyr2, Amina, and Icaverve2 were identified as moderately resistant. Principal component analysis based on the genotypes responses defined two major clusters and two sub-clusters for the 10 F. culmorum isolates. Isolate Fc9 collected in Khemis Zemamra was the most virulent while isolate Fc3 collected in Haj-Kaddour was the least virulent. This work provides initial results for the discovery of differential reactions between the durum lines and isolates and the identification of novel sources of resistance.

• 농업과학연구
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• 제49권4호
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• pp.749-760
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• 2022

Omics-driven synthetic biology is a multidisciplinary research field that creates new artificial life by employing genetic components, biological devices, and engineering technique based on genetic knowledge and technological expertise. It is also utilized to make valuable biomaterials with limited production via current organisms faster, more efficient, and in huge quantities. As the bioeconomic age begins, and the global synthetic biology market becomes more competitive, investment in research and development (R&D) and associated sectors has grown considerably. By overcoming the constraints of present biotechnologies through the merging of big data and artificial intelligence technologies, huge ripple effects are envisaged in the pharmaceutical, chemical, and energy industries. In agriculture, synthetic biology is being used to solve current agricultural problems and develop sustainable agricultural systems by increasing crop productivity, implementing low-carbon agriculture, and developing plant-based, high-value-added bio-materials such as vaccines for diagnosing and preventing livestock diseases. As international regulatory debates on synthetic biology are now underway, discussions should also take place in our country for the growth of bioindustries and the dissemination of research findings. Furthermore, the system must be improved to facilitate practical application and to enhance the risk evaluation technology and management system.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.63-75
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• 2022

Purpose: Osteoporosis is a common calcium and metabolic skeletal disease which is characterized by decreased bone mass, microarchitectural deterioration of bone tissue and impaired bone strength, thereby leading to enhanced risk of bone fragility. In this study, we aimed to identify novel genes for susceptibility to osteoporosis and/or bone density. Materials and Methods: To identify differentially expressed genes (DEGs) between control and osteoporosis-induced cells, annealing control primer-based differential display reverse-transcription polymerase chain reaction (RT-PCR) was carried out in pre-osteoblast MC3T3-E1 cells. Expression levels of the identified DEGs were evaluated by quantitative RT-PCR. Association studies for the quantitative bone density analysis and osteoporosis case-control analysis of single nucleotide polymorphism (SNPs) were performed in Korean women (3,570 subjects) from the Korean Association REsource (KARE) study cohort. Results: Comparison analysis of expression levels of the identified DEGs by quantitative RT-PCR found seven genes, Anxa6, Col5a1, Col6a2, Eno1, Myof, Nfib, and Scara5, that showed significantly different expression between the dexamethason-treated and untreated MC3T3-E1 cells and between the ovariectomized osteoporosis-induced mice and sham mice. Association studies revealed that there was a significant association between the SNPs in the five genes, ANXA6, COL5A1, ENO1, MYOF, and SCARA5, and bone density and/or osteoporosis. Conclusion: Using a whole-genome comparative expression analysis, gene expression evaluation analysis, and association analysis, we found five genes that were significantly associated with bone density and/or osteoporosis. Notably, the association P-values of the SNPs in the ANXA6 and COL5A1 genes were below the Bonferroni-corrected significance level.