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The Uric Acid and Gout have No Direct Causality With Osteoarthritis: A Mendelian Randomization Study

Lee YH, Song GG

OBJECTIVE: To examine whether uric acid level or gout is causally associated with the risk of osteoarthritis. METHODS: We performed a two-sample Mendelian randomization (MR) analysis using inverse-variance weighted (IVW), MR-Egger...
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Genetic Architecture of Circulating Very-Long-Chain (C24:0 and C22:0) Ceramide Concentrations

Cresci S, Zhang R, Yang Q, Duncan MS, Xanthakis , Jiang X, Vasan RS, Schaffer J, Peterson L

OBJECTIVE: Total ceramide concentrations are linked with increased insulin resistance and cardiac dysfunction. However, recent studies have demonstrated that plasma concentrations of specific very-long-chain fatty ceramides (C24:0 and C22:0) are...
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A Case of Donor Cell Leukemia after Allogenic Peripheral Blood Stem Cell Transplantation for Acute Promyelocytic Leukemia with PML-RARA

Shin WY, Bang HI, Kim J, Kim KH, Won JH, Park R

Donor cell leukemia (DCL), a rare but fatal complication arising from allogenic stem cell transplantation, is a complex disease associated with multiple pathophysiological processes. Specific diagnosis of DCL distinct from...
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Epigenetic Changes in Asthma: Role of DNA CpG Methylation

Bae DJ, Jun JA, Chang HS, Park JS, Park CS

For the past three decades, more than a thousand of genetic studies have been performed to find out the genetic variants responsible for the risk of asthma. Until now, all...
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Analysis of vitamin D-binding protein (VDBP) gene polymorphisms in Korean women with and without endometriosis

Cho MC, Kim JH, Jung MH, Cho IA, Jo HC, Shin JK, Lee SA, Choi WJ, Lee JH

OBJECTIVE: Vitamin D-binding protein (VDBP) mediates various biological processes in humans. The goal of this study was to investigate whether VDBP gene polymorphisms could predispose Korean women to endometriosis. METHODS: We...
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Effects of Obesity and Family History of Diabetes on the Association of CETP rs6499861 with HDL-C Level in Korean Populations

Sull JW, Kim S, Jee SH

OBJECTIVES: The aim of this study was to examine the associations of cholesterol ester transfer protein (CETP) rs6499861 and rs12708980 with high-density lipoprotein cholesterol (HDL-C) considering obesity and family history...
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Genes Involved in Neurodevelopment, Neuroplasticity and Major Depression: No Association for CACNA1C, CHRNA7 and MAPK1

Calabrò M, Mandelli L, Crisafulli C, Lee SJ, Jun TY, Wang SM, Patkar AA, Masand PS, Han C, Pae CU, Serretti A

OBJECTIVE: Genetics factors are likely to play a role in the risk, clinical presentation and treatment outcome in major depressive disorder (MDD). In this study, we investigated the role of...
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Associations of Genetic Variations in Mismatch Repair Genes MSH3 and PMS1 with Acute Adverse Events and Survival in Patients with Rectal Cancer Receiving Postoperative Chemoradiotherapy

Yang J, Huang Y, Feng Y, Li H, Feng T, Chen J, Yin L, Wang W, Wang S, Liu Y, Song Y, Li Y, Jin J, Tan W, Lin D

PURPOSE: Mismatch repair (MMR) deficiency plays a critical role in rectal cancer. This study aimed to explore the associations between genetic variations in seven MMR genes and adverse events (AEs)...
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Association of IL-1 gene polymorphisms with chronic rhinosinusitis with and without nasal polyp

Mohamad S, Hamid SS, Azlina A, Md Shukri

BACKGROUND: Chronic rhinosinusitis (CRS) is one of the most common and complex chronic inflammatory disease of sinonasal mucosa. Even though the pathogenesis of CRS is multifactorial and still unclear, the...
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Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea

Kim Y, Yang YS, Park SS, Kim MJ, Shin CM, Choi SH

Congenital analbuminemia (CAA) is an autosomal recessive disease characterized by extremely low serum levels of albumin. CAA is caused by various homozygous or heterozygous mutations of the ALB gene. Patients...
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Associations for BCO2, PCSK9, and TR1B1 Polymorphism and Lifestyle Factors with Ischemic Stroke: A Nested Case-Control Study

Zhao TY, Li Z, Lei S, Huang L, Yang L

PURPOSE: To investigate associations for polymorphisms in β-carotene 9′,10′-oxygenase (BCO2, rs10431036 and rs11214109), proprotein convertase subtilisin kexin type 9 (PCSK9, rs11583680), and tribbles pseudokinase 1 (TRIB1, rs17321515 and rs2954029), as...
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Associations among Genetic Variants and Intracranial Aneurysm in a Chinese Population

Li B, Hu C, Liu J, Liao X, Xun J, Xiao M, Yan J

PURPOSE: Genome-wide association studies (GWAS) have revealed that common variants on or near EDNRA, HDAC9, SOX17, RP1, CDKN2B-AS1, and RBBP8 genes are associated with intracranial aneurysm (IA) in European or...
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Investigation of Maternal Effects, Maternal-Fetal Interactions, and Parent-of-Origin Effects (Imprinting) for Candidate Genes Positioned on Chromosome 18q21, in Probands with Schizophrenia and their First-Degree Relatives

Lee KY, Lee BD, Park JM, Lee YM, Moon E, Jeong HJ, Kim SY, Suh H, Chung YI, Kim SC

OBJECTIVE: A popular design for the investigation of such effects, including effects of parent-of-origin (imprinting), maternal genotype, and maternal-fetal genotype interactions, is to collect deoxyribonucleic acid (DNA) from affected offspring...
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Associations between the HaeIII Single Nucleotide Polymorphism in the SLC2A1 Gene and Diabetic Nephropathy in Korean Patients with Type 2 Diabetes Mellitus

Lee DH, Won GW, Lee YH, Ku EJ, Oh TK, Jeon HJ

BACKGROUND: Diabetic nephropathy (DN) is the most serious microvascular complication of diabetes mellitus and is one of the leading causes of end stage renal failure. In previous studies, the contribution...
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Single Nucleotide Polymorphisms Associated with Alcohol-Induced Flushing Syndrome in Korean Population

Lee JH, Seo HJ, Cho S, Kim MY, Lee SD

Alcohol-induced flushing syndrome is one of the alcohol hypersensitivity reactions commonly found among Asian population. This study was designed to find markers that can predict this particular propensity among Korean...
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Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients

Kim HN, Shin MH, Lee R, Park MH, Kweon SS

Breast cancer is the second most common cancer in Korean women. Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast cancer and are detected in 15–20% of hereditary...
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Influence of silver nanoparticles on resin-dentin bond strength durability in a self-etch and an etch-and-rinse adhesive system

Jowkar Z, Shafiei F, Asadmanesh E, Koohpeima

OBJECTIVES: This study evaluated the effect of dentin pretreatment with silver nanoparticles (SNPs) and chlorhexidine (CHX) on the microshear bond strength (µSBS) durability of different adhesives to dentin. MATERIALS AND METHODS:...
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Individualized treatment based on CYP3A5 single-nucleotide polymorphisms with tacrolimus in ulcerative colitis

Okabayashi S, Kobayashi , Saito E, Toyonaga T, Ozaki R, Sagami S, Nakano M, Tanaka J, Yagisawa K, Kuronuma S, Takeuchi O, Hibi T

BACKGROUND/AIMS: The pharmacokinetics of tacrolimus (TAC) is known to be largely influenced by single-nucleotide polymorphisms (SNPs) in CYP3A5. Patients starting TAC require careful dose adjustment, owing to the wide range...
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A Genetic Risk Score for Atrial Fibrillation Predicts the Response to Catheter Ablation

Choe WS, Kang JH, Choi EK, Shin SY, Lubitz SA, Ellinor PT, Oh S, Lim HE

BACKGROUND AND OBJECTIVES: The association of susceptibility loci for atrial fibrillation (AF) with AF recurrence after ablation has been reported, although with controversial results. In this prospective cohort analysis, we...
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Effect of PTEN Polymorphism on the Development of Hepatitis B Virus-associated Hepatocellular Carcinoma

Kim SS, Eun JW, Cho HJ, Lee HY, Seo CW, Lee GH, Yoon SY, Noh CK, Cho SW, Cheong JY

BACKGROUND/AIMS: Phosphatase and tensin homolog (PTEN) is a known tumor suppressor gene that is downregulated in hepatocellular carcinoma (HCC). Here, we investigated the association between single nucleotide polymorphisms (SNPs) of...
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