• 생명과학회지
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• 제19권7호
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• pp.866-870
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• 2009

Fascin은 액틴결합 단백질로 형성을 포함한 많은 발생과정에 있어서 중요한 역할을 한다. Fascin은 암세포에 대한 생체표지인자로도 잘 알려져 있다. 그러나 이러한 fascin 유전자의 발현조절기전은 현재까지 잘 알려져있다. 그러나 이러한 fascin 유전자의 발현조절기전은 현재까지 잘 알려져 있지 않다. 본 연구에서는 Raf 돌연변이 초파리에서 이미 보고 되어있는 초파리 fascin 돌연변이 초파리의 휘어진 등털 표현형을 관찰함으로써 초파리 fascin 유전자의 발현이 Raf신호체계에 의해 조절되는 가를 조사하였다. RT-PCR과 Western blot의 실험 방법으로 Raf 유전자 돌연변이 초파리에서 fascin의 발현이 감소되어 있는 것을 확인하였으며, GAL4-UAS계로 Raf를 과발현시킨 초파리에서 fascin 발현이 증가하는 것을 확인할 수 있었다. 또한 세포의 증식과 이동 연구모델계로 잘 알려져 있는 초파리의 혈액세포에서 이러한 조절기전을 확인하였다. 이러한 결과들은 fascin유전자의 발현이 Raf 신호체계에 의해 조절된다는 것을 나타낸다.

• 응용통계연구
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• 제29권4호
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• pp.643-656
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• 2016

고차원 자료(high dimensional data)는 변수의 수가 표본의 수보다 많은 자료로 다양한 분야에서 관측 또는 생성되고 있다. 일반적으로, 고차원 자료에 대한 회귀 모형에서는 모수의 추정과 과적합을 피하기 위하여 변수 선택이 이루어진다. 벌점화 회귀 모형(penalized regression model)은 변수 선택과 회귀 계수의 추정을 동시에 수행하는 장점으로 인하여 고차원 자료에 빈번하게 적용되고 있다. 하지만, 벌점화 회귀 모형에서도 여전히 조율 모수 선택(tuning parameter selection)을 통한 최적의 모형 선택이 요구된다. 본 논문에서는 벌점화 회귀 모형 중에서 대표적인 LASSO 회귀 모형을 기반으로 모형 선택의 기준들에 대한 LASSO 회귀 추정량의 편의가 어떠한 영향을 미치는지 모의실험을 통하여 수치적으로 연구하였고 편의의 보정의 필요성에 대하여 나타내었다. 실제 자료 분석에서의 영향을 나타내기 위하여, 폐암 환자의 유전자 발현량(gene expression) 자료를 기반으로 바이오마커 식별(biomarker identification) 문제에 적용하였다.

• Journal of Medicine and Life Science
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• 제17권3호
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• pp.65-73
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• 2020

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease of the cerebral small blood vessels caused by mutations in the NOTCH3 gene on chromosome 19. Although CADASIL was known as a rare disease, recent research has suggested that the NOTCH variants could be found frequently even in the general population. The main clinical features included recurrent stroke, migraine, psychiatric symptoms, and progressive cognitive decline. On brain magnetic resonance imaging, patients with CADASIL showed multifocal white matter hyperintensity lesions, lacunar infarcts, microbleeds, and brain atrophy. Among them, lacunar infarcts and brain atrophy are important in predicting the clinical outcomes of patients with CADASIL. In the Jeju National University Hospital, we have diagnosed 213 CADASIL patients from 2004 to 2020. Most NOTCH3 mutations were located in exon 11 (94.4%), and p.Arg544Cys was the most common mutation. The mean age at diagnosis was 61.0±12.8 years. The most common presenting symptoms were ischemic stroke (24.4%), followed by cognitive impairment(15.0%), headache (8.9%), and dizziness(8.0%). Although the exact prevalence of CADASIL in Jeju is still unknown, the disease prevalence could be as high as 1% of the population considering the prevalence reported in Taiwan. Therefore, it is necessary to discover efficient biomarkers and genetic tests that can accurately screen and diagnose patients suspected of having CADASIL in this region. Ultimately, it is urgent to explore the exact pathogenesis of the disease to identify leading substances of treatment potential, and for this, multi-disciplinary research through active support from the Jeju provincial government as well as the national government is essential.

• Journal of Ginseng Research
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• 제45권2호
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• pp.273-286
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• 2021

Background: Prostate carcinoma is the second most common cancer among men worldwide. Developing new therapeutic approaches and diagnostic biomarkers for prostate cancer (PC) is a significant need. The Chinese herbal medicine Panax quinquefolius saponins (PQS) have been reported to show anti-tumor effects. We hypothesized that PQS exhibits anti-cancer activity in human PC cells and we aimed to search for novel biomarkers allowing early diagnosis of PC. Methods: We used the human PC cell line DU145 and the prostate epithelial cell line PNT2 to perform cell viability assays, flow cytometric analysis of the cell cycle, and FACS-based apoptosis assays. Microarray-based gene expression analysis was used to display specific gene expression patterns and to search for novel biomarkers. Western blot and quantitative real-time PCR were performed to demonstrate the expression levels of multiple cancer-related genes. Results: Our data showed that PQS inhibited the viability of DU145 cells and induced cell cycle arrest at the G1 phase. A significant decrease in DU145 cell invasion and migration were observed after 24 h treatment by PQS. PQS up-regulated the expression levels of p21, p53, TMEM79, ACOXL, ETV5, and SPINT1 while it down-regulated the expression levels of bcl2, STAT3, FANCD2, DRD2, and TMPRSS2. Conclusion: PQS promoted cells apoptosis and inhibited the proliferation of DU145 cells, which suggests that PQS may be effective for treating PC. TMEM79 and ACOXL were expressed significantly higher in PNT2 than in DU145 cells and could be novel biomarker candidates for PC diagnosis.

• Molecules and Cells
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• 제45권9호
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• pp.640-648
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• 2022

CD133, also known as prominin-1, was first identified as a biomarker of mammalian cancer and neural stem cells. Previous studies have shown that the prominin-like (promL) gene, an orthologue of mammalian CD133 in Drosophila, plays a role in glucose and lipid metabolism, body growth, and longevity. Because locomotion is required for food sourcing and ultimately the regulation of metabolism, we examined the function of promL in Drosophila locomotion. Both promL mutants and pan-neuronal promL inhibition flies displayed reduced spontaneous locomotor activity. As dopamine is known to modulate locomotion, we also examined the effects of promL inhibition on the dopamine concentration and mRNA expression levels of tyrosine hydroxylase (TH) and DOPA decarboxylase (Ddc), the enzymes responsible for dopamine biosynthesis, in the heads of flies. Compared with those in control flies, the levels of dopamine and the mRNAs encoding TH and Ddc were lower in promL mutant and pan-neuronal promL inhibition flies. In addition, an immunostaining analysis revealed that, compared with control flies, promL mutant and pan-neuronal promL inhibition flies had lower levels of the TH protein in protocerebral anterior medial (PAM) neurons, a subset of dopaminergic neurons. Inhibition of promL in these PAM neurons reduced the locomotor activity of the flies. Overall, these findings indicate that promL expressed in PAM dopaminergic neurons regulates locomotion by controlling dopamine synthesis in Drosophila.

• Parasites, Hosts and Diseases
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• 제61권1호
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• pp.42-52
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• 2023

The genus Babesia includes parasites that can induce human and animal babesiosis, which are common in tropical and subtropical regions of the world. The gut microbiota has not been examined in hamsters infected by Babesia duncani. Red blood cells infected with B. duncani were injected into hamsters through intraperitoneal route. To evaluate the changes in gut microbiota, DNAs were extracted from small intestinal contents, acquired from hamsters during disease development. Then, the V4 region of the 16S rRNA gene of bacteria was sequenced using the Illumina sequencing platform. Gut microbiota alternation and composition were assessed according to the sequencing data, which were clustered with >97.0% sequence similarity to create amplicon sequence variants (ASVs). Bacteroidetes and Firmicutes were made up of the major components of the gut microbiota in all samples. The abundance of Bacteroidetes elevated after B. duncani infection than the B. duncani-free group, while Firmicutes and Desulfobacterota declined. Alpha diversity analysis demonstrated that the shown ASVs were substantially decreased in the highest parasitemia group than B. duncani-free and lower parasitemia groups. Potential biomarkers were discovered by Linear discriminant analysis Effect Size (LEfSe) analysis, which demonstrated that several bacterial families (including Muribaculaceae, Desulfovibrionaceae, Oscillospiraceae, Helicobacteraceae, Clostridia UGG014, Desulfovibrionaceae, and Lachnospiraceae) were potential biomarkers in B. duncani-infected hamsters. This research demonstrated that B. duncani infectious can modify the gut microbiota of hamsters.

• Journal of Animal Science and Technology
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• 제66권3호
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• pp.567-576
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• 2024

Subclinical ketosis (SCK) is a prevalent metabolic disorder that occurs during the transition to lactation period. It is defined as a high blood concentration of ketone bodies (beta-hydroxybutyric acid f ≥ 1.2 mmol/L) within the first few weeks of lactation, and often presents without clinical signs. SCK is mainly caused by negative energy balance (NEB). The objective of this study is to identify single nucleotide polymorphisms (SNPs) associated with SCK using genome-wide association studies (GWAS), and to predict the biological functions of proximal genes using gene-set enrichment analysis (GSEA). Blood samples were collected from 112 Holstein cows between 5 and 18 days postpartum to determine the incidence of SCK. Genomic DNA extracted from both SCK and healthy cows was examined using the Illumina Bovine SNP50K BeadChip for genotyping. GWAS revealed 194 putative SNPs and 163 genes associated with those SNPs. Additionally, GSEA showed that the genes retrieved by Database for Annotation, Visualization, and Integrated Discovery (DAVID) belonged to calcium signaling, starch and sucrose, immune network, and metabolic pathways. Furthermore, the proximal genes were found to be related to germ cell and early embryo development. In summary, this study proposes several feasible SNPs and genes associated with SCK through GWAS and GSEA. These candidates can be utilized in selective breeding programs to reduce the genetic risk for SCK and subfertility in high-performance dairy cows.

• Journal of Microbiology and Biotechnology
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• 제19권10호
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• pp.1109-1121
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• 2009

In an attempt to discover novel biomarker proteins in type 2 diabetes prognosis, we investigated the influence of hypoglycemic extracellular polysaccharides (EPS) obtained from the macrofungus Tremella fuciformis on the differential levels of plasma proteins in ob/ob mice using two-dimensional gel electrophoresis (2-DE). The 2-DE analysis demonstrated that 92 spots from about 900 visualized spots were differentially regulated, of which 40 spots were identified as principal diabetes-associated proteins. By comparing control with EPS-fed mice, we found that at least six proteins were significantly altered in ob/ob mice, including Apo A-I, IV, C-III, E, retinol-binding protein 4, and transferrin, and their levels were interestingly normalized after EPS treatment. Western blot analysis revealed that the altered levels of the two regulatory molecules highlighted in diabetes and obesity (e.g., resistin and adiponectin) were also normalized in response to EPS. The Mouse Diabetes PCR Array profiles showed that the expression of 84 genes related to the onset, development, and progression of diabetes were significantly downregulated in liver, adipocyte, and muscle of ob/ob mice. EPS might act as a potent regulator of gene expression for a wide variety of genes in ob/ob mice, particularly in obesity, insulin resistance, and complications from diabetes mellitus.

• Environmental Analysis Health and Toxicology
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• 제20권2호
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• pp.187-194
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• 2005

Octachlorostyrene (OCS) is a primarily concerning chemical in many countries because of its persistent and bioaccumulative properties in the environment. OCS is not commercially manufactured or used but it may be produced during incineration or chemical synthetic processes involving chlorinated compounds. There are several reports that OCS was found in the waters, sediments, fish, mussels, and also in human tissues. However, systematic studies on the OCS toxicities are scarce in literature. In this study, we tried to get the gene expression data using medaka DNA chip to identify biomarkers of OCS exposure. Medaka (Oryzias latipes.) was exposed to OCS 1 ppm for 2 days and 10 days, respectively. Total RNA was extracted and purified by guanidine thiocyanate method and the Cy3- and Cy5-labelled cDNAs produced by reverse trancription of the RNA were hybridized to medaka microarray. As results, eighty five genes were found to be down-or up regulated by OCS. Some of the genes were listed and confirmed by real-time PCR.

• 한국전문물리치료학회지
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• 제22권3호
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• pp.98-105
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• 2015

Muscular dystrophy is a hereditary musculoskeletal disorder caused by a mutation in the dystrophin gene. Duchenne muscular dystrophy (DMD) is one of the most common, and progresses relatively faster than other muscular dystrophies. It is characterized by progressive myofiber degeneration, muscle weakness and ultimately ambulatory loss. Since it is an X-linked recessive inheritance, DMD is mostly expressed in males and rarely expressed or less severe in females. The most effective measurement tool for DMD is magnetic resonance imaging (MRI), which allows non-invasive examination of longitudinal measurement. It can detect progressive decline of skeletal muscle size by measuring a maximal cross-sectional area of skeletal muscle. Additionally, other techniques in MRI, like $T_2$-weighted imaging, assess muscle damage, including inflammation, by detecting changes in $T_2$ relaxation time. Current MRI techniques even allow quantification of metabolic differences between affected and non-affected muscles in DMD. There is no current cure, but physical therapist can improve their quality of life by maintaining muscle strength and function, especially if treatment (and other forms of medical intervention) begins in the early stages of the disease.