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Article
TPX2 Amplification-Driven Aberrant Mitosis in Culture Adapted Human Embryonic Stem Cells with gain of 20q11.21
Despite highly effective machinery for the maintenance of genome integrity in human embryonic stem cells (hESCs), the frequency of genetic aberrations during in-vitro culture has been a serious issue for future c...
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Article
Open AccessTPX2 prompts mitotic survival via the induction of BCL2L1 through YAP1 protein stabilization in human embryonic stem cells
Genetic alterations have been reported for decades in most human embryonic stem cells (hESCs). Survival advantage, a typical trait acquired during long-term in vitro culture, results from the induction of BCL2L1 ...
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Article
Open AccessTwo independent variants of epidermal growth factor receptor associated with risk of glioma in a Korean population
Gliomas are the most common primary tumors in the brain and spinal cord. In previous GWASs, SNPs in epidermal growth factor receptor (EGFR) have been reported as risk loci for gliomas. However, EGFR variants asso...
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Article
Asian-specific 3’UTR variant in CDKN2B associated with risk of pituitary adenoma
Previous genomewide association studies (GWASs), single nucleotide polymorphisms (SNPs) on cyclin-dependent kinase inhibitor 2 A (CDKN2A), cyclin-dependent kinase inhibitor 2B (CDKN2B), and cyclin-dependent kinas...
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Article
Association of APOE genotype with lipid profiles and type 2 diabetes mellitus in a Korean population
Type 2 diabetes mellitus (T2DM) is associated with chronic hyperglycemia and lipid metabolism. A previous genome-wide association study revealed the TOMM40-APOE region as novel locus for T2DM susceptibility.
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Article
Open AccessA non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population
Hepatitis B is known to cause several forms of liver diseases including chronic hepatitis B (CHB), and hepatocellular carcinoma. Previous genome-wide association study of CHB risk has demonstrated that rs12614 of...
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Article
Open AccessExploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study
Primary open-angle glaucoma (POAG) can develop even within normal ranges of intraocular pressure, and this type of glaucoma (so-called ‘normal-tension glaucoma [NTG]’) is highly prevalent in East Asia includin...
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Article
Open AccessThe schizophrenia genetics knowledgebase: a comprehensive update of findings from candidate gene studies
Over 3000 candidate gene association studies have been performed to elucidate the genetic underpinnings of schizophrenia. However, a comprehensive evaluation of these studies’ findings has not been undertaken ...
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Article
A PHLDB1 variant associated with the nonfunctional pituitary adenoma
Previous studies have revealed that PHLDB1 single-nucleotide polymorphisms (SNPs) are associated with glioma risk. Nonetheless, the association between PHLDB1 SNPs and the risk of pituitary adenoma has not been s...
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Article
Identification of additional EHMT2 variant associated with the risk of chronic hepatitis B by GWAS follow-up study
Chronic hepatitis B (CHB) is a precursor to liver cirrhosis and hepatocellular carcinoma, caused by a Hepatitis B viral infection. Genome-wide association studies (GWASs) have been conducted to find genes asso...
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Article
Sotos syndrome associated with Hirschsprung’s disease: a new case and exome-sequencing analysis
Sotos syndrome (SoS) is an overgrowth disorder with various congenital anomalies and is usually accompanied by other clinical problems. However, anorectal malformations have not been documented as part of the ...
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Article
Potential association between ITPKC genetic variations and Hirschsprung disease
Hirschsprung disease (HSCR) is a congenital and complex disorder characterized by intestinal obstruction due to the absence of enteric neurons along variable lengths of the hindgut. Our recent genome-wide asso...
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Article
Genome-wide DNA methylation profiles of maternal peripheral blood and placentas: potential risk factors for preeclampsia and validation of GRK5
Hypoxic placentation has been considered as a key step for the development of preeclampsia (PE); however, the underlying epigenetic mechanisms are still not fully understood. The purpose of this study is to in...
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Article
Open AccessGene profile of fibroblasts identify relation of CCL8 with idiopathic pulmonary fibrosis
Idiopathic pulmonary fibrosis (IPF) is characterized by the complex interaction of cells involved in chronic inflammation and fibrosis. Global gene expression of a homogenous cell population will identify nove...
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Article
MCM7 polymorphisms associated with the AML relapse and overall survival
The minichromosome maintenance complex component 7 (MCM7) encodes a member of MCM complex, which plays a critical role in the initiation of gene replication. Due to the importance of MCM complex, MCM7 gene has be...
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Article
SLC29A1 (ENT1) polymorphisms and outcome of complete remission in acute myeloid leukemia
The solute carrier family 29 (equilibrative nucleoside transporter), member 1 (SLC29A1) is known to be involved in the transportation and resistance of the nucleoside analog cytosine arabinoside (AraC), one of...
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Article
Direct sequencing for comprehensive screening of LDLR genetic polymorphisms among five ethnic populations
Low density lipoprotein receptor (LDLR) plays an important role in plasma lipoprotein metabolism and pharmacological responses. Although mutations of LDLR and their functional associations with plasma LDL choles...
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Article
Direct sequencing and comprehensive screening of genetic polymorphisms on CYP2 family genes (CYP2A6, CYP2B6, CYP2C8, and CYP2E1) in five ethnic populations
Recently, CYP2A6, CYP2B6, CYP2C8, and CYP2E1 have been reported to play a role in the metabolic effect of pharmacological and carcinogenic compounds. Moreover, genetic variations of drug metabolism genes have ...
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Article
The association between KL polymorphism and prostate cancer risk in Korean patients
The Klotho (KL) gene is a classical “aging suppressor” gene. Although recent studies have shown that KL participates in the progression of several types of human cancers, the relationship between KL polymorphism ...
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Article
KIF1B polymorphisms associated with the risk of inflammatory demyelinating disease in Korean population
In the present study, we explored the possible association between KIF1B polymorphisms and inflammatory demyelinating disease (IDD) susceptibility. Eleven single nucleotide polymorphisms (SNPs) were selected for ...
