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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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ABO*B3.01 Found in the A1B3 Phenotype Showing ABO Discrepancy: The First Case in Korea

Kim N, Yu H, Lee J, Kim DS, Lee HS, Chung YN, Cho YG, Cho D

B₃ is a rare finding, but it is most common in the B subgroup, which been reported as being 0.025% of the total B group in Koreans. ABO*B3.01 is a...
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Molecular Characterization of 170 New gDNA-SSR Markers for Genetic Diversity in Button Mushroom (Agaricus bisporus)

An H, Jo IH, Oh YL, Jang KY, Kong WS, Sung JK, So YS, Chung JW

We designed 170 new simple sequence repeat (SSR) markers based on the whole-genome sequence data of button mushroom (Agaricus bisporus), and selected 121 polymorphic markers. A total of 121 polymorphic...
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The Effect of Clinical Characteristics and Subtypes on Amyloid Positivity in Patients with Amnestic Mild Cognitive Impairment

Kim JY, Lim JH, Jeong YJ, Kang DY, Park KW

BACKGROUND AND PURPOSE: Mild cognitive impairment (MCI) is a prodromal stage of dementia. Amyloid deposits in positron-emission tomography (PET) imaging of MCI patients imply a higher risk for advancing to...
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Comprehensive Cancer Panel Sequencing Defines Genetic Diversity and Changes in the Mutational Characteristics of Pancreatic Cancer Patients Receiving Neoadjuvant Treatment

Yoon KA, Woo SM, Kim YH, Kong SY, Lee MK, Han SS, Kim TH, Lee WJ, Park SJ

BACKGROUND/AIMS: Pancreatic ductal adenocarcinoma (PDA) is associated with an extremely poor prognosis. This study assessed the genetic diversity among patients with PDA and compared their mutational profiles before and after...
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Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea

Yang D, Kim B, Song DY, Kim TY, Kim MJ, Cho SI, Kim H, Seong MW, Park SS

No abstract available.
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NR3C1 Polymorphisms for Genetic Susceptibility to Schizophrenia

Park JS, Lee SM, Kim JW, Kang WS

OBJECTIVES: Psychological stress has been known to increase the risk of schizophrenia. Because stress responses are mainly mediated by cortisol, the action of the glucocorticoid receptors (Nuclear Receptor Subfamily 3...
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Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Kim EY, Shin JS

BACKGROUND AND PURPOSE: Febrile seizure (FS) is a unique type of seizure that only occurs during childhood. Genelized epilepsy with febrile seizure plus (GEFS+) is a familial epilepsy syndrome associated...
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Associations of Ubiquitin-Specific Protease Genes with Resilience and Social Anxiety in Healthy Youths

Seo JH, Park CI, Kim SJ, Kang JI

OBJECTIVE: Dynamic proteolysis, through the ubiquitin-proteasome system, is an important molecular mechanism for the constant regulation of synaptic plasticity and stress responses in humans. In this study, we examined whether...
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Vitamin D Dependent Rickets Type 1A Caused by CYP27B1 Mutation

Bak NR, Song ES, Yang EM, Kim CJ

Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1 . Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological...
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Genetic Diversity of Plasmodium vivax in Clinical Isolates from Southern Thailand using PvMSP1, PvMSP3 (PvMSP3α, PvMSP3β) Genes and Eight Microsatellite Markers

Thanapongpichat S, Khammanee , Sawangjaroen N, Buncherd H, Tun AW

Plasmodium vivax is usually considered morbidity in endemic areas of Asia, Central and South America, and some part of Africa. In Thailand, previous studies indicated the genetic diversity of P....
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Severity of Nonalcoholic Fatty Liver Disease in Type 2 Diabetes Mellitus: Relationship between Nongenetic Factors and PNPLA3/HSD17B13 Polymorphisms

Bellan M, Colletta C, Barbaglia , Salmi L, Clerici R, Mallela VR, Castello L, Saglietti , Carnevale Schianca GP, Minisini R, Pirisi M

BACKGROUND: The prevalence of nonalcoholic fatty liver disease (NAFLD) in patients with type 2 diabetes mellitus (T2DM) is high, though its severity is often underestimated. Our aim is to provide...
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The Association between the Apolipoprotein E Gene Polymorphism and All-cause Mortality in the Korean Population

Choi CK, Kweon SS, Lee YH, Nam HS, Park KS, Ryu SY, Choi SW, Kim HY, Shin MH

BACKGROUND: Apolipoprotein E (APOE) gene polymorphism is associated with neurodegenerative and cardiovascular diseases. Although the effects of the gene differ by ethnic group, few studies have examined Asians. Therefore, the...
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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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