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MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant

Baek IP, Jeong YB, Jung SH, Chung YJ

Next-generation sequencing (NGS) is widely used to identify the causative mutations underlying diverse human diseases, including cancers, which can be useful for discovering the diagnostic and therapeutic targets. Currently, a...
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Elucidation of the Inhibitory Effect of Phytochemicals with Kir6.2 Wild-Type and Mutant Models Associated in Type-1 Diabetes through Molecular Docking Approach

Jagadeb M, Konkimalla VB, Rath SN, Das RP

Among all serious diseases globally, diabetes (type 1 and type 2) still poses a major challenge to the world population. Several target proteins have been identified, and the etiology causing...
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Understanding Rifampicin Resistance in Tuberculosis through a Computational Approach

Kumar S, Jena L

The disease tuberculosis, caused by Mycobacterium tuberculosis (MTB), remains a major cause of morbidity and mortality in developing countries. The evolution of drug-resistant tuberculosis causes a foremost threat to global...
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Molecular Characterization of Legionellosis Drug Target Candidate Enzyme Phosphoglucosamine Mutase from Legionella pneumophila (strain Paris): An In Silico Approach

Hasan A, Mazumder H, Khan A, Hossain MU, Chowdhury

The harshness of legionellosis differs from mild Pontiac fever to potentially fatal Legionnaire's disease. The increasing development of drug resistance against legionellosis has led to explore new novel drug targets....
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Genome-Wide Identification and Classification of MicroRNAs Derived from Repetitive Elements

Gim JA, Ha HS, Ahn K, Kim DS, Kim HS

MicroRNAs (miRNAs) are known for their role in mRNA silencing via interference pathways. Repetitive elements (REs) share several characteristics with endogenous precursor miRNAs. In this study, 406 previously identified and...
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The Usage of an SNP-SNP Relationship Matrix for Best Linear Unbiased Prediction (BLUP) Analysis Using a Community-Based Cohort Study

Lee YS, Kim HJ, Cho S, Kim H

Best linear unbiased prediction (BLUP) has been used to estimate the fixed effects and random effects of complex traits. Traditionally, genomic relationship matrix-based (GRM) and random marker-based BLUP analyses are...
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Analysis of Gene Expression in Cyclooxygenase-2-Overexpressed Human Osteosarcoma Cell Lines

Han JA, Kim JY, Kim JI

Osteosarcoma is the most common primary bone tumor, generally affecting young people. While the etiology of osteosarcoma has been largely unknown, recent studies have suggested that cyclooxygenase-2 (COX-2) plays a...
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Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5)

Kim EK, Lee JS, Cheong HI, Chung SS, Kwak SH, Park KS

Mutation in HNF1B, the hepatocyte nuclear factor-1beta (HNF-1beta) gene, results in maturity-onset diabetes of the young (MODY) 5, which is characterized by gradual impairment of insulin secretion. However, the functional...
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Replication of Interactions between Genome-Wide Genetic Variants and Body Mass Index in Fasting Glucose and Insulin Levels

Hong KW, Chung M, Cho SB

The genetic regulation of glucose and insulin levels might be modified by adiposity. With regard to the genetic factors that are altered by adiposity, a large meta-analysis on the interactions...
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The ABCG2 Polymorphism rs2725220 Is Associated with Hyperuricemia in the Korean Population

Sull JW, Yang SJ, Kim S, Jee SH

Elevated serum uric acid levels are associated with a variety of adverse health outcomes, including gout, hypertension, diabetes mellitus, metabolic syndrome, and cardiovascular diseases. Several genome-wide association studies on uric...
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Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans

Oh JH, Kim YK, Moon S, Kim YJ, Kim BJ

Platelets are derived from the fragments that are formed from the cytoplasm of bone marrow megakaryocytes-small irregularly shaped anuclear cells. Platelets respond to vascular damage, contracts blood vessels, and attaches...
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Relevance Epistasis Network of Gastritis for Intra-chromosomes in the Korea Associated Resource (KARE) Cohort Study

Jeong HH, Sohn KA

Gastritis is a common but a serious disease with a potential risk of developing carcinoma. Helicobacter pylori infection is reported as the most common cause of gastritis, but other genetic...
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Effective Population Size of Korean Populations

Park L

Recently, new methods have been developed for estimating the current and recent changes in effective population sizes. Based on the methods, the effective population sizes of Korean populations were estimated...
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Genome-Wide Association Study of Hepatitis in Korean Populations

Hong Y, Oh S

Hepatitis is a common and serious disease for the Korean population. It is caused by a virus, the A and B types of which are plentiful in Koreans. In this...
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Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of Korea Associated Resource (KARE) Cohorts

Shim U, Kim HN, Sung YA, Kim HL

Metabolic syndrome (MetS) is a complex disorder related to insulin resistance, obesity, and inflammation. Genetic and environmental factors also contribute to the development of MetS, and through genome-wide association studies...
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Genome-Wide Association Study of Metabolic Syndrome in Koreans

Jeong SW, Chung M, Park SJ, Cho SB, Hong KW

Metabolic syndrome (METS) is a disorder of energy utilization and storage and increases the risk of developing cardiovascular disease and diabetes. To identify the genetic risk factors of METS, we...
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Understanding Epistatic Interactions between Genes Targeted by Non-coding Regulatory Elements in Complex Diseases

Sung MK, Bang H, Choi JK

Genome-wide association studies have proven the highly polygenic architecture of complex diseases or traits; therefore, single-locus-based methods are usually unable to detect all involved loci, especially when individual loci exert...
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In silico Identification of SFRP1 as a Hypermethylated Gene in Colorectal Cancers

Kim J, Kim S

Aberrant DNA methylation, as an epigenetic marker of cancer, influences tumor development and progression. We downloaded publicly available DNA methylation and gene expression datasets of matched cancer and normal pairs...
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Short Reads Phasing to Construct Haplotypes in Genomic Regions That Are Associated with Body Mass Index in Korean Individuals

Lee K, Han S, Tark Y, Kim S

Genome-wide association (GWA) studies have found many important genetic variants that affect various traits. Since these studies are useful to investigate untyped but causal variants using linkage disequilibrium (LD), it...
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Review on Molecular and Chemopreventive Potential of Nimbolide in Cancer

Elumalai P, Arunakaran J

Cancer is the most dreaded disease in human and also major health problem worldwide. Despite its high occurrence, the exact molecular mechanisms of the development and progression are not fully...
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