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Molecular characterization of dysplasia-initiated colorectal cancer with assessing matched tumor and dysplasia samples

Jung S, Lee JL, Kim TW, Lee J, Yoon YS, Lee KY, Song Kh, Yu CS, Cho YB

Purpose: Ulcerative colitis (UC) is known to have an association with the increased risk of colorectal cancer (CRC), and UC-associated CRC does not follow the typical progress pattern of adenoma-carcinoma....
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Novel Point Mutation of EBSS Gene Coexisted with 1p36 Deletion

Zheng Y, Xu Q, Lai W

EBSS (epidermolysis bullosa simplex superficialis) is mainly caused by gene mutations which targeted protein as plakophilin-1, desmoplakin and keratins. 1p36 gene deleted could cause typical clinical manifestations and might also...
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Loss-of-function HSD17B13 variants, non-alcoholic steatohepatitis and adverse liver outcomes: Results from a multi-ethnic Asian cohort

Ting YW, Kong ASY, Zain SM, Chan WK, Tan HL, Mohamed Z, Pung YF, Mohamed R

Background/Aims: 17β-hydroxysteroid dehydrogenase 13 (HSD17B13) variants were recently reported to have significantly lower odds of non-alcoholic fatty liver disease (NAFLD). This is a two-part study that aimed to evaluate the...
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Novel antigen panel for modern broad-spectrum recombinant rotavirus A vaccine

Kondakova OA, Ivanov PA, Baranov OA, Ryabchevskaya EM, Arkhipenko MV, Skurat EV, Evtushenko EA, Nikitin NA, Karpova OV

Purpose Recombinant rotavirus A vaccines are being developed as an alternative to existing live oral attenuated vaccines. One of the main problems in the production of such vaccines is the genetic...
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A genome wide association study for lung function in the Korean population using an exome array

Lee KS, Kim KH, Oh YM, Han B, Kim WJ

Background/Aims: Lung function is an objective indicator of diagnosis and prognosis of respiratory diseases. Many common genetic variants have been associated with lung function in multiple ethnic populations. We looked...
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Genome-Wide Association Study for the Identification of Novel Genetic Variants Associated with the Risk of Neuroblastoma in Korean Children

Bae JS, Lee JW, Yoo JE, Joung JG, Yoo KH, Koo HH, Song YM, Sung KW

Purpose Neuroblastoma (NB) is the most common extracranial solid tumor found in children. To identify significant genetic factors for the risk of NB, several genetic studies was conducted mainly for Caucasians...
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Molecular Identification of Taenia hydatigena from Sheep in Khartoum, Sudan

Muku RJ, Yan HB, Ohiolei JA, Saaid AA, Ahmed S, Jia WZ, Fu BQ

The cestode Taenia hydatigena uses canids, primarily dogs, as definitive hosts, while the metacestode larval stage cysticercus infects a range of intermediate hosts, including domestic animals such as goats, sheep,...
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Clinical Characteristics and Genetic Variations in Early-Onset Atopic Dermatitis Patients

Kim BJ, Wang HY, Lee H, Lee SY, Hong SJ, Choi EH

BACKGROUND: Hereditary factors contribute to atopic dermatitis (AD) development. We developed the reverse blot hybridization assay (REBA) kit to simultaneously detect variations in skin barrier- and immune response-related genes prevalent...
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Insights of window-bsed mechanism approach to visualize composite bioData point in feature spaces

Daoud M

In this paper, we propose a window-based mechanism visualization approach as an alternative way to measure the seriousness of the difference among data-insights extracted from a composite biodata point. The...
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Discussion on critical points for a tailored therapy to cure hepatitis C virus infection

Marascio N, Quirino A, Barreca GS, Galati L, Costa C, Pisani V, Mazzitelli M, Matera G, Liberto MC, Focà A, Torti C

Hepatitis C virus (HCV) infects around 71 million people worldwide and in 2018 it is still a major health problem. Since 2011, anti-HCV therapy with availability of direct-acting antiviral drugs...
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Genetic variations in open reading frame 2 gene of porcine circovirus type 2 isolated in Korea during 2016–2017

Kim K, Choi JY, Lyoo KS, Hahn TW

The capsid protein of porcine circovirus type 2 (PCV2) encoded by open reading frame 2 (ORF2) is important for neutralizing activity against PCV2 infection. This study investigated the heterogeneity of...
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Genetic Contributions to Childhood Obesity: Association of Candidate Gene Polymorphisms and Overweight/Obesity in Korean Preschool Children

Yoo KH, Yim HE, Bae ES, Hong YS

This study was aimed to investigate the association of candidate gene polymorphisms and obesity or overweight in young Korean children. A total of 190 Korean preschool children (96 control, 48...
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Phylogeographical characterization of H5N8 viruses isolated from poultry and wild birds during 2014–2016 in South Korea

Song BM, Lee EK, Lee YN, Heo GB, Lee HS, Lee YJ

During 2014–2016 HPAI outbreak in South Korea, H5N8 viruses have been mostly isolated in western areas of the country, which provide wintering habitats for wild birds and have a high...
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Target Molecule Expression Profiles in Metastatic Renal Cell Carcinoma: Development of Individual Targeted Therapy

Lee JN, Chun SY, Ha YS, Choi KH, Yoon GS, Kim HT, Kim TH, Yoo ES, Kim BW, Kwon TG

The aim of this study is to analyze the level of target molecule expression in metastatic renal cell carcinoma (RCC) to determine whether there is a correlation between molecular marker...
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Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants

Kim K, Seong MW, Chung WH, Park SS, Leem S, Park W, Kim J, Lee K, Park RW, Kim N

Sequencing depth, which is directly related to the cost and time required for the generation, processing, and maintenance of next-generation sequencing data, is an important factor in the practical utilization...
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IL28B Is Associated with Outcomes of Chronic HBV Infection

Shi X, Chi X, Pan Y, Gao Y, Li W, Yang C, Zhong J, Xu D, Zhang M, Minuk G, Jiang J, Niu J

PURPOSE: The role of IL28B gene variants and expression in hepatitis B virus (HBV) infections are not well understood. Here, we evaluated whether IL28B gene expression and rs12979860 variations are...
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Clinical implications of copy number variations in autoimmune disorders

Yim SH, Jung SH, Chung B, Chung YJ

Human genetic variation is represented by the genetic differences both within and among populations, and most genetic variants do not cause overt diseases but contribute to disease susceptibility and influence...
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Comparative Genotype Analysis of Hepatitis A Virus: Two One-Year Studies in South Korea in 2002 and 2011

Baek IH, Lee HW, Kim HJ, Song MO, Yoon SK, Park JH, Chung IS, Kim W

Hepatitis A virus (HAV) positive stool samples were collected from acute hepatitis A patients during the two study periods of 2002 and 2011 in Seoul, South Korea, and their genetic...
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Identification and Functional Characterization of Novel Genetic Variations in the OCTN1 Promoter

Park HJ, Choi JH

Human organic cation/carnitine transporter 1 (OCTN1) plays an important role in the transport of drugs and endogenous substances. It is known that a missense variant of OCTN1 is significantly associated...
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MRAS Genetic Variation Is Associated with Atherothrombotic Stroke in the Han Chinese Population

Liu H, Huang XQ, Yang M, Ji XM, Du X, Zheng J

BACKGROUND AND PURPOSE: Atherothrombotic cerebral infarction [atherothrombotic stroke (ATS)] shares common risk factors and pathophysiological mechanisms with coronary artery disease (CAD), and both diseases appear to have common susceptibility loci....
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