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Clinical application of genome-wide single nucleotide polymorphism genotyping and karyomapping for preimplantation genetic testing of Charcot–Marie–Tooth disease

Kim MJ, Park SO, Hong YS, Park EA, Lee YB, Choi BO, Lee KA, Yu EJ, Kang IS

Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot–Marie–Tooth Disease (CMT) is a...
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Translocator Protein (18 kDa) Polymorphism (rs6971) in the Korean Population

Lee H, Noh Y, Kim WR, Seo HE, Park HM

Background and Purpose: The expression of the 18-kDA mitochondrial translocator protein (TSPO) in the brain is an attractive target to study neuroinflammation. However, the binding properties of TSPO ligands are...
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Presentation of potential genes and deleterious variants associated with non-syndromic hearing loss: a computational approach

Ray M, Rath SN, Sarkar S, Sable MN

Non-syndromic hearing loss (NSHL) is a common hereditary disorder. Both clinical and genetic heterogeneity has created many obstacles to understanding the causes of NSHL. The present study has attempted to...
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Whole-genome sequence analysis through online web interfaces: a review

Gunasekara AWACWR, Rajapaksha LGTG, Tung T

The recent development of whole-genome sequencing technologies paved the way for understanding the genomes of microorganisms. Every whole-genome sequencing (WGS) project requires a considerable cost and a massive effort to...
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Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population

Jang HM, Hwang MY, Kim BJ, Kim YJ

Genome-wide association studies (GWASs) facilitated the discovery of countless disease-associated variants. However, GWASs have mostly been conducted in European ancestry samples. Recent studies have reported that these European-based association results...
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Alteration in Cngb1 Expression upon Maternal Immune Activation in a Mouse Model and Its Possible Association with Schizophrenia Susceptibility

Lee H, Kang SW, Jeong H, Kwon JT, Kim YO, Kim HJ

Objective: The cyclic nucleotide-gated channel (Cng) regulates synaptic efficacy in brain neurons by modulating Ca2+ levels in response to changes in cyclic nucleotide concentrations. This study investigated whether the expression...
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Combined Effects of the FSHR 2039 A/G and FSHR-29 G/A Polymorphisms on Male Reproductive Parameters

Cannarella R, Musso N, Condorelli RA, Musmeci M, Stefani S, Vignera SL, Calogero AE

Purpose: The aim of this study was to evaluate the combined effect of FSHR 2039 A/G and FSHR-29 G/A single nucleotide polymorphisms (SNPs) on the male reproductive function in a...
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Comparison of single nucleotide polymorphisms and short tandem repeats as markers for differentiating between donors and recipients in solid organ transplantation

Lee HJ, Shin KH, Jeong SJ, Kim IS

Background: To analyze transplant rejection and to distinguish between donor and recipient, it is necessary to select a marker from single nucleotide polymorphism (SNP), short tandem repeat (STR), and human...
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Functional annotation of lung cancer‒associated genetic variants by cell type‒specific epigenome and long-range chromatin interactome

Lee AJ, Jung I

Functional interpretation of noncoding genetic variants associated with complex human diseases and traits remains a challenge. In an effort to enhance our understanding of common germline variants associated with lung...
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Single-nucleotide polymorphismbased epidemiological analysis of Korean Mycobacterium bovis isolates

Kim TW, Jang YH, Jeong MK, Seo Y, Park CH, Kang S, Lee YJ, Choi JS, Yoon SS, Kim JM

Background: Bovine tuberculosis (TB) is caused by Mycobacterium bovis, a well-known cause of zoonotic tuberculosis in cattle and deer, and has been investigated in many physiological and molecular studies. However,...
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The Effects of Single Nucleotide Polymorphisms in Korean Patients with Early-onset Atrial Fibrillation after Catheter Ablation

Park YM, Roh SY, Lee DI, Shim J, Choi JI, Park SWP, Kim YH

Background: This study evaluated the status of single nucleotide polymorphisms (SNPs) in Korean patients with early-onset (< 40 years old) atrial fibrillation (AF) and their effects on the outcome after...
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Positive Association of Human SHC3 Gene with Schizophrenia in a Northeast Chinese Han Population

Lv Y, Sun Y, Wang GY, Yin J, Li CJ, Luo YY, Luan ZL

Objective Schizophrenia is one of the most devastating neuropsychiatric disorders. Genetic epidemiological studies have confirmed that schizophrenia is a genetic disease. Genes promoting neurodevelopment may be potential candidates for schizophrenia....
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Association between the MUC1 rs4072037 Polymorphism and Risk of Gastric Cancer and Clinical Outcomes

Kim BS, Lee I, Yook JH, Song K, Kim BS

Purpose: Mucin 1 (MUC1) was identified as a gastric cancer (GC) susceptibility gene by genome-wide association studies in Asians and candidate gene studies in Europeans. This study aimed to investigate...
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Association of MYH9-rs3752462 polymorphisms with chronic kidney disease among clinically diagnosed hypertensive patients: a case-control study in a Ghanaian population

Owiredu WKBA, Appiah M, Obirikorang C, Adu EA, Boima V, Amos-Abanyie EK, Akyaw PA, Owiredu EW, Acheampong E

Background Chronic kidney disease (CKD) is a significant comorbidity among hypertensive patients. Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) have been demonstrated to be significantly associated with CKD,...
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Associations of COL2A1 Gene Polymorphisms and Ankylosing Spondylitis in the Korean Population

Son ES, Um SH, Youn MY

With highly active antiretroviral therapy, human immunodeficiency virus (HIV) infection is considered to be a manageable chronic disease. The improved prognosis increases the desire of individuals with HIV to have...
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Association of the Promoter Haplotype of IFN-γ-Inducible Protein 16 Gene with Schizophrenia in a Korean Population

Kang WS, Kim SK, Park HJ

Objective Viral infections play an important role in the development of schizophrenia, inducing the faulty immunological responses and aberrant inflammation. IFN-γ-inducible protein 16 (IFI16) is an immunological DNA sensor against...
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Recapitulation of previously reported associations for type 2 diabetes and metabolic traits in the 126K East Asians

Choi JY, Jang HM, Han S, Hwang MY, Kim BJ, Kim YJ

Over the last decade, genome-wide association studies (GWASs) have provided an unprecedented amount of genetic variations that are associated with various phenotypes. However, previous GWAS were mostly conducted in European...
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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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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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