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Comparison between the Rapid ID 32 Strep test system and 16S rRNA gene sequencing for the identification of α-hemolytic streptococci

Lee SY

Oral viridans streptococcus is the most common bacterial species present in human dental plaque. The Rapid ID 32 Strep (bioMerieux, Marcy-l‘Etoile, France) test system allows for the identification of most...
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Restoration of the adipogenic gene expression by naringenin and naringin in 3T3-L1 adipocytes

Dayarathne LA, Ranaweera SS, Natraj P, Rajan P, Lee YJ, Han CH

Background: Naringenin and its glycoside naringin are well known citrus flavonoids with several therapeutic benefits. Although the anti-adipogenic effects of naringenin and naringin have been reported previously, the detailed mechanism...
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Profiling of T Cell Receptor β-Chain Complimentary Determining Regions 3 Repertoire in Subarachnoid Hemorrhage Patients Using High-Throughput Sequencing

Kim BJ, Ahn JH, Youn DH, Jeon JP

Objective : The adaptive immune response following subarachnoid hemorrhage (SAH) is not well understood. We evaluated and compared the T cell receptor (TCR) immune repertoire of good-grade and poor-grade SAH...
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Practical Diagnostic Approach to Myopathy

Lee JM

Hereditary myopathy is characterized by the weakness of skeletal muscles and is associated with various genetic defects. The efficiency of a genetic diagnosis has been archived with wide application of...
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Clinical Genetic Testing in Children with Kidney Disease

Kang E, Lee BH

Chronic kidney disease, the presence of structural and functional abnormalities in the kidneys, is associated with a lower quality of life and increased morbidity and mortality in children. Genetic etiologies...
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A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets

Jeong IH, Yoo JH, Kim N

X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia. In this report, we describe a case of...
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Analysis of genome variants in dwarf soybean lines obtained in F6 derived from cross of normal parents (cultivated and wild soybean)

Roy NS, Ban YW, Yoo H, Ramekar RV, Cheong EJ, Park NI, Na JK, Park KC, Choi IY

Plant height is an important component of plant architecture and significantly affects crop breeding practices and yield. We studied DNA variations derived from F5 recombinant inbred lines (RILs) with 96.8%...
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Report of the Korean Association of External Quality Assessment Service on Next-Generation Sequencing Analysis for Somatic Variants (2018–2020)

Kim H, Won D, Shin S, Lee ST, Choi JR

Next-generation sequencing is widely used to detect a variety of genetic defects in many disorders. The detection of somatic variants in patients with cancer, including hematologic malignancy, is important for...
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Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital

Park HS, Kim A, Shin KS, Son BR

Purpose: To summarize the results of chromosomal microarray analysis (CMA) for copy number variants (CNVs) detection and clinical utility in a single tertiary hospital. Materials and Methods: We performed CMA in...
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Expression patterns of Rho-associated protein kinase signaling pathway-related genes in mouse submandibular glands

Kim KC, Roh S

Salivary glands are exocrine glands that secrete saliva into the oral cavity, and secreted saliva plays essential roles in oral health. Therefore, maintaining the salivary glands in an intact state...
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Update on Genetic Study of Vestibular Disorder

Choi JH

The wide availability of next-generation sequencing has enabled a rapid progress in the discovery of genetic variants associated with many disorders. However, the contribution of genetic factors in vestibular disorders...
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A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing

Suh Ya, Sohn YB, Park MS, Lee JH

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy...
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Utility of Next-Generation Sequencing for Deciphering Intratumor Heterogeneity in Prostate Cancer

Joung JG, Park JY, Yang SY, Jeong J

Prostate cancer has long been considered a disease with a heterogeneous phenotype. The intratumor heterogeneity (ITH) may affect diverse phenotypes such as treatment response, drug resistance, and overall clinical outcomes....
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MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome

Hong KT, Lim BC, Moon JS, Ko JS

Mitochondrial DNA (mtDNA) depletion syndrome comprises diseases resulting from a deficiency of proteins involved in mtDNA synthesis. MPV17 is a mitochondrial membrane protein whose mutation causes mitochondrial deoxynucleotide insufficiency. MPV17-related hepatocerebral...
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A Novel Species of the Genus Arsenicicoccus Isolated From Human Blood Using Whole-Genome Sequencing

Jeong JH, Kweon OJ, Kim HR, Kim TH, Ha Sm, Lee MK

Whole-genome sequencing (WGS) is an easily accessible and valuable tool in clinical microbiology, which can be used for identifying novel and rare species. We isolated grampositive cocci from the blood...
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Identification of 8-Digit HLA-A, -B, -C, and -DRB1 Allele and Haplotype Frequencies in Koreans Using the One Lambda AllType Next-Generation Sequencing Kit

Choe W, Chae JD, Yang JJ, Hwang SH, Choi SE, Oh HB

Background: Recent studies have successfully implemented next-generation sequencing (NGS) in HLA typing. We performed HLA NGS in a Korean population to estimate HLA-A, -B, -C, and -DRB1 allele and haplotype...
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Clinical and Genomic Characteristics of Adult Diffuse Midline Glioma

Park C, Kim TM, Bae JM, Yun H, Kim JW, Choi SH, Lee ST, Lee JH, Park SH, Park CK

Purpose The treatment outcomes and genomic profiles of diffuse midline glioma (DMG) in adult patients are rarely characterized. We performed a retrospective study to evaluate the clinicogenomic profiles of adult patients...
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A new type of oculocutaneous albinism with a novel OCA2 mutation

Lee SY, Lee EJ, Byun JC, Jang KM, Kim SY, Hwang SK

Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing...
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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation

Lee HI, Kwon A, Suh JH, Choi HS, Song KC, Chae HW, Kim HS

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by...
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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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