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Molecular epidemiology and characterization of Streptococcus mutans strains in Korea

Kim SY, Bae IK, Lee JH, Shin JH, Kim JB

OBJECTIVES: We investigated the characteristics of Streptococcus mutans in the national culture collection from Korea. Twenty-nine (dental plaque, n=27; endodontic infections, n=1; blood, n=1) isolates were included in this study. METHODS:...
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Extracting Structured Genotype Information from Free-Text HLA Reports Using a Rule-Based Approach

Lee KH, Kim HJ, Kim YJ, Kim JH, Song EY

BACKGROUND: Human leukocyte antigen (HLA) typing is important for transplant patients to prevent a severe mismatch reaction, and the result can also support the diagnosis of various disease or prediction...
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Polymorphism in Macrophage Migration Inhibitory Factor -173GC in Pediatric Patients with Autoimmune Hepatitis

Alsayed MA, Elbeah SM, El-Desoky , Elziny SM, Megahed A

PURPOSE: Autoimmune hepatitis (AIH) is a chronic disease that may lead to cirrhosis. The immunopathogenesis of AIH is not fully understood and it mainly involves T-cell mediated mechanism. Macrophage migration...
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Investigation of the association of idiopathic male infertility with polymorphisms in the methionine synthase (MTR) gene

Tanoomand , Hajibemani A, Abouhamzeh B

OBJECTIVE: Spermatogenesis is a complex process that is regulated by a number of genes, some of which are involved in folate-dependent 1-carbon metabolism. Methionine synthase (encoded by MTR) is a...
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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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Association Between Trp64arg Polymorphism of the β3 adrenoreceptor Gene and Female Sex in Obese Turkish Children and Adolescents

Yılmaz R, Ateş O, Gül A, Kasap T, Özer S, Ensari E

PURPOSE: The β3-adrenergic receptor (ADRB3) is expressed in visceral adipose tissue and has been speculated to contribute to lipolysis, energy metabolism, and regulation of the metabolic rate. In this study,...
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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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Molecular Genetic and Serologic Analysis of the O allele in the Korean Population

Lee JY, Song SA, Oh SH

BACKGROUND: The recent expansion of knowledge about various ABO alleles has led to the need for a comprehensive measure to cover the numerous polymorphisms dispersed in the ABO gene. A...
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Polymorphisms of the BARX1 and ADAMTS17 Locus Genes in Individuals With Gastroesophageal Reflux Disease

Argyrou A, Legaki E, Koutserimpas C, Gazouli M, Papaconstantinou I, Gkiokas G, Karamanolis G

  • KMID: 2454642
  • J Neurogastroenterol Motil.
  • 2019 Jul;25(3):436-441.
  • doi: 10.5056/jnm18183
BACKGROUND/AIMS: Gastroesophageal reflux disease (GERD) represents a common condition having a substantial impact on the patients' quality of life, as well as the health system. According to many studies, the...
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Inherited NBN Mutations and Prostate Cancer Risk and Survival

Rusak B, Kluźniak , Wokołorczykv D, Stempa K, Kashyap A, Gronwald J, Huzarski T, Dębniak T, Jakubowska A, Masojć B, Akbari MR, Narodv SA, Lubiński , Cybulski C, The Polish Hereditary Prostate Cancer Consortium

PURPOSE: The purpose of this study was to establish the contribution of four founder alleles of NBN to prostate cancer risk and cancer survival. MATERIALS AND METHODS: Five thousand one hundred...
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Antiepileptic drug-induced severe cutaneous adverse reactions and HLA alleles: A report of five cases with lymphocyte activation test

Kim EY, Kim MY, Park CS, Choi JH, Ghim JL, Kim HS, Shin JG

Antiepileptic drugs (AEDs) can induce severe cutaneous adverse reactions (SCARs) such as Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome. We...
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The Correlation between IL-1β-C31T Gene Polymorphism and Susceptibility to Breast Cancer

Eras N, Daloglu FT, Çolak T, Guler M, Akbas E

PURPOSE: Interleukin-1 beta (IL-1β), a pro-inflammatory cytokine, has been shown to influence breast cancer susceptibility. The relationship between its risk of breast cancer and IL-1β-C31T polymorphism has been demonstrated, but...
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Polymorphisms of Ionotropic Glutamate Receptor-Related Genes and the Risk of Autism Spectrum Disorder in a Chinese Population

Xie X, Hou F, Li L, Chen Y, Liu L, Luo X, Gu H, Li X, Zhang J, Gong J, Song R

OBJECTIVE: To evaluate the association of GRIK2 and NLGN1 with autism spectrum disorder in a Chinese population. METHODS: We performed spatio-temporal expression analysis of GRIK2 and NLGN1 in the developing prefrontal...
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Prospective study of the efficacy and utility of TP53 mutations in circulating tumor DNA as a non-invasive biomarker of treatment response monitoring in patients with high-grade serous ovarian carcinoma

Kim YM, Lee SW, Lee YJ, Lee HY, Lee JE, Choi EK

OBJECTIVE: Somatic TP53 mutation (TP53mut ) is a characteristic finding in high-grade serous ovarian cancer (HGSOC). The aim of this study was to assess the clinical efficacy and utility of TP53mut circulating...
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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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Predicting Behavior Problems in Korean Preschoolers: Interactions of the SLC6A4 Gene and Maternal Negative Affectivity

Ha J, Jun HJ, Shin H, Chung IJ, Park E, Min SK, Kim E

OBJECTIVE: This study aimed to investigate whether maternal negative affectivity (MNA) moderates the effect of genetic polymorphism of SLC6A4 on behavior problems in children. METHODS: Study participants comprised 143 preschoolers and...
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Re-transmissibility of mouse-adapted ME7 scrapie strain to ovine PrP transgenic mice

Babalola J, Kim JM, Lee YJ, Park JH, Choi HS, Choi YG, Choi EK, Kim YS

Scrapie is a mammalian transmissible spongiform encephalopathy or prion disease that predominantly affects sheep and goats. Scrapie has been shown to overcome the species barrier via experimental infection of other...
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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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Enrichment of rare alleles within epigenetic chromatin marks in the first intron

Jo SS, Choi SS

In previous studies, we demonstrated that some sites in the first intron likely regulate gene expression. In the present work, we sought to further confirm the functional relevance of first...
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Alteration of Genomic Imprinting Status of Human Parthenogenetic Induced Pluripotent Stem Cells during Neural Lineage Differentiation

Lee HJ, Choi NY, Lee SW, Lee Y, Ko K, Kim GJ, Hwang HS, Ko K

BACKGROUND AND OBJECTIVES: Genomic imprinting modulates growth and development in mammals and is associated with genetic disorders. Although uniparental embryonic stem cells have been used to study genomic imprinting, there...
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