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Mitochondrial DNA Sequence Variability of Spirometra Species in Asian Countries

Jeon HK, Eom KS

Mitochondrial DNA sequence variability of Spirometra erinaceieuropaei in GenBank was observed by reinvestigation of mitochondrial cox1 and cytb sequences. The DNA sequences were analyzed in this study, comprising complete DNA...
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Low Levels of Polymorphisms and Negative Selection in Plasmodum knowlesi Merozoite Surface Protein 8 in Malaysian Isolates

Ahmed MA, Kang HJ, Quan FS

Human infections due to the monkey malaria parasite Plasmodium knowlesi is increasingly being reported from most Southeast Asian countries specifically Malaysia. The parasite causes severe and fatal malaria thus there...
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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 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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Prevalence and Molecular Characterization of Echinococcus granulosus Sensu Stricto in Northern Xinjiang, China

Guo B, Zhang Z, Zheng X, Guo Y, Guo G, Zhao L, Cai R, Wang B, Yang M, Shou X, Zhang W, Jia B

Echinococcus granulosus is an important zoonotic parasite globally causing cystic echinococcosis (CE) in humans and animals. In this study, prevalence of CE and variation of cox1 gene sequence were analyzed...
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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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Genetic Variants and Haplotypes in the IL10 Gene and Their Association with Opportunistic Infections among HIV-Infected Patients in Korea in the Era of Highly Active Antiretroviral Therapy

Kim IS, Kim HH, Chang CL

BACKGROUND: Genetic variants and haplotypes of the interleukin-10 (IL10) gene have been shown to affect clinical outcomes, including the incidence of opportunistic infections (OIs), in HIV-infected patients. This study investigated...
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TSLP Polymorphisms in Atopic Dermatitis and Atopic March in Koreans

Heo WI, Park KY, Lee MK, Moon NJ, Seo SJ

BACKGROUND: Atopic march (AM) is the progression from atopic dermatitis (AD) to allergic rhinitis and asthma. The development of AD is as high as 20% in children worldwide and continues...
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Single nucleotide polymorphism of GSTP1 and pathological complete response in locally advanced rectal cancer patients treated with neoadjuvant concomitant radiochemotherapy

Nicosia L, Gentile G, Reverberi , Minniti G, Valeriani , de Sanctis V, Marinelli , Cipolla F, de Luca O, Simmaco M, Osti MF

PURPOSE: Standard treatment for locally advanced rectal cancer consists of neoadjuvant radiochemotherapy with concomitant fluoropyrimidine or oxaliplatin and surgery with curative intent. Pathological complete response has shown to be predictive...
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Genetic Diversity of Echinococcus granulosus Genotype G1 in Xinjiang, Northwest of China

Yan B, Liu X, Wu J, Zhao S, Yuan W, Wang B, Wureli H, Tu C, Chen C, wang Y

Cystic echinococcosis (CE) caused by E. granulosus is a serious helminthic zoonosis in humans, livestock and wildlife. Xinjiang is one of high endemic province for CE in China. A total...
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Unraveling Haplotype Diversity of the Apical Membrane Antigen-1 Gene in Plasmodium falciparum Populations in Thailand

Lumkul L, Sawaswong , Simpalipan P, Kaewthamasorn M, Harnyuttanakorn P, Pattaradilokrat S

Development of an effective vaccine is critically needed for the prevention of malaria. One of the key antigens for malaria vaccines is the apical membrane antigen 1 (AMA-1) of the...
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An Investigation of SDF1/CXCR4 Gene Polymorphisms in Autism Spectrum Disorder: A Family-Based Study

Kara T, Akaltun I, Cakmakoglu B, Kaya I, ZoroÄŸlu S

OBJECTIVE: Autism spectrum disorders (ASD) have a complex pathophysiology including genetic, inflammatory and neurodevelopmental components. We aim to investigate the relationship between ASD and gene polymorphisms of stromal cell-derived factor-1...
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Lack of Evidence of the Role of APOA5 3’UTR Polymorphisms in Iranian Children and Adolescents with Metabolic Syndrome

Salehi S, Emadi-Baygi M, Rezaei M, Kelishadi , Nikpour P

BACKGROUND: Metabolic syndrome (MetS) is a complex and multifactorial disorder characterized by insulin resistance, dyslipidaemia, hyperglycemia, abdominal obesity, and elevated blood pressure. The apolipoprotein A5 (APOA5) gene variants have been...
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Association between Genetic Variations of MERTK and Chronic Obstructive Pulmonary Disease in Koreans

Kim WJ, Park HJ, Choi YJ, Kwon EY, Kim BM, Lee JH, Chang JH, Lee Kang J, Choi JH

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a debilitating lung disease. To date, a large number of clinical studies have been conducted to investigate the association between genetic variations and...
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Haplotype Association of the MAP2K5 Gene with Antipsychotics-Induced Symptoms of Restless Legs Syndrome among Patients with Schizophrenia

Kang SG, Lee YJ, Park YM, Kim L, Lee HJ

OBJECTIVE: Restless legs syndrome (RLS) is considered a genetic disease and, following a genome-wide association study conducted in 2007, the mitogen-activated protein kinase 5 (MAP2K5) gene has been regarded as...
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A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22

Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in...
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Identification and Functional Characterization of ST3GAL5 and ST8SIA1 Variants in Patients with Thyroid-Associated Ophthalmopathy

Park HJ, Kim JH, Yoon JS, Choi YJ, Choi YH, Kook KH, Choi JH

PURPOSE: This study was conducted to identify and to functionally characterize genetic variants in ST3GAL5 and ST8SIA1 in Korean patients with thyroid-associated ophthalmopathy (TAO). MATERIALS AND METHODS: Genetic analyses were conducted...
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Polymorphism in the Promoter Region of SEMA5A Is Associated with Sociality Traits in Korean Subjects with Autism Spectrum Disorders

Kim SA, Kim BN, Kim JW, Shin MS, Park TW, Son JW, Chung US, Park M

In this study, we evaluated the association between autism spectrum disorders (ASDs) and 10 single-nucleotide polymorphisms (SNPs) in the 5' region of the semaphorin 5A gene (SEMA5A) for 250 Korean...
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A Genome-Wide Association Study Identifies UTRN Gene Polymorphism for Restless Legs Syndrome in a Korean Population

Cho CH, Choi JH, Kang SG, Yoon HK, Park YM, Moon JH, Jung KY, Han JK, Shin HB, Noh HJ, Koo YS, Kim L, Woo HG, Lee HJ

OBJECTIVE: Restless legs syndrome (RLS) is a highly heritable and common neurological sensorimotor disease disturbing sleep. The objective of study was to investigate significant gene for RLS by performing GWA...
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Genetic Diversity and Natural Selection in 42 kDa Region of Plasmodium vivax Merozoite Surface Protein-1 from China-Myanmar Endemic Border

Zhou X, Tambo E, Su J, Fang Q, Ruan W, Chen JH, Yin MB, Zhou XN

Plasmodium vivax merozoite surface protein-1 (PvMSP1) gene codes for a major malaria vaccine candidate antigen. However, its polymorphic nature represents an obstacle to the design of a protective vaccine. In...
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