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Expression profiling of cultured podocytes exposed to nephrotic plasma reveals intrinsic molecular signatures of nephrotic syndrome

Panigrahi S, Pardeshi VC, Chandrasekaran K, Neelakandan K, PS H, Vasudevan A

Background: Nephrotic syndrome (NS) is a common renal disorder in children attributed to podocyte injury. However, children with the same diagnosis have markedly variable treatment responses, clinical courses, and outcomes,...
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The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation

Jang JA, Sohn YB, Lee JH, Park MS

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies...
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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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Exome Chip Analysis of 14,026 Koreans Reveals Known and Newly Discovered Genetic Loci Associated with Type 2 Diabetes Mellitus

Cho SB, Jang JH, Chung MG, Kim SC

Background Most loci associated with type 2 diabetes mellitus (T2DM) discovered to date are within noncoding regions of unknown functional significance. By contrast, exonic regions have advantages for biological interpretation. Methods We analyzed...
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Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine:(2) Invasive Diagnostic Testing for Fetal Chromosomal Abnormalities

Lee JY, Kwon JY, Na S, Choe SA, Seol HJ, Kim M, Kim MA, Park CW, Kim K, Ryu HM, Hwang HS, Shim JY

The Korean Society of Maternal Fetal Medicine proposed the first Korean guideline on prenatal aneuploidy screening and diagnostic testing, in April 2019. The clinical practice guideline (CPG) was developed for...
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Transcriptional profiling of mouse cavernous pericytes under high-glucose conditions: Implications for diabetic angiopathy

Yin GN, Wu J, Cui Y, Lin C, Shi L, Gao ZL, Suh JK, Ryu JK, Jin HR

Purpose: Penile erection requires integrative interactions between vascular endothelial cells, pericytes, smooth muscle cells, and autonomic nerves. Furthermore, the importance of the role played by pericytes in the pathogenesis of...
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Characterization of changes in global gene expression in the hearts and kidneys of transgenic mice overexpressing human angiotensin-converting enzyme 2

Lee SH, Jee SW, Hwang DY, Kang JK

Human angiotensin-converting enzyme 2 (hACE2) has recently received a great attention due to it play a critical role as SARS-CoV receptor in the infection of human body. However, no further...
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Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion

Choi WK, Lim SE, Kim GH, Lee BH, Seol CA, Seo EJ

We report a case of Beckwith-Wiedemann syndrome (BWS) and Jacobsen syndrome (JBS) due to 11pter trisomy and 11qter monosomy caused by paternal inv(11)(p15.1q24.2). The patient was born premature and had...
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A novel urinary mRNA signature using the droplet digital polymerase chain reaction platform improves discrimination between prostate cancer and benign prostatic hyperplasia within the prostate-specific antigen gray zone

Kang HW, Lee HY, Byun YJ, Jeong P, Yoon JS, Kim DH, Kim WT, Kim YJ, Lee SC, Yun SJ, Kim WJ

Purpose: The aim of this study was to identify a noninvasive urinary marker for prostate cancer (PCa) diagnosis and to validate the clinical performance of this novel urinary mRNA signature...
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Clinical application of chromosomal microarray for pathogenic genomic imbalance in fetuses with increased nuchal translucency but normal karyotype

Lee D, Go S, Na S, Park S, Ma J, Hwang D

Purpose: To evaluate the additive value of prenatal chromosomal microarray analysis (CMA) in assessing increased nuchal translucency (NT) (≥3.5 mm) with normal karyotype and the possibility of detecting clinically significant...
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Quantitative analysis of proteins related to chemoresistance to paclitaxel and carboplatin in human SiHa cervical cancer cells via iTRAQ

He Y, Han SB, Geng YN, Yang SL, Wu YM

Objective: This study aimed to identify proteins related to paclitaxel and carboplatin chemoresistance in cervical cancer. Methods: Quantitative proteomic analysis was performed on normal SiHa cells and those treated with paclitaxel...
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Identification of microRNAs and their target genes in the placenta as biomarkers of inflammation

Jang HY, Lim SM, Lee HJ, Hong JS, Kim GJ

Objective: Recently, microRNA (miRNA) has been identified both as a powerful regulator involved in various biological processes through the regulation of numerous genes and as an effective biomarker for the...
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Primary Nasal Epithelial Cells From Allergic and Non-allergic Individuals Show Comparable Barrier Function

Waltl EE, Stanek V, Mueller CA, Kiss R, Eckl-Dorna J, Valenta R, Niederberger V

Previous reports suggested that ex vivo cultured primary nasal epithelial cells from allergic patients differ from those from non-allergic individuals by genuinely reduced barrier function. By contrast, we found that...
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A Case of Trisomy 9 Mosaicism Confirmed by Microarray Test

Park CE, Chung ML, Hwang JH, Lee MK

Trisomy 9 mosaicism syndrome is a rare chromosomal abnormality with a high incidence of natural abortion and perinatal death. This syndrome is characterized by intrauterine growth retardation, mental retardation, craniofacial...
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14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay

Kwon JH, Song YH, Yoon JM, Cheon EJ, Ko KO, Lim JW, Kim HJ

14q12q13.3 Deletion is a rare microdeletion syndrome associated with neurodevelopmental delay, failure to thrive, seizures, and abnormal brain development. Symptoms vary depending on the sites of gene deletion, and establishing...
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Novel Antihypertension Mechanism of β-Glucan by Corin and ANP-Mediated Natriuresis in Mice

Lee SJ, Lee DH, Kim HW

Many of the β-glucans are known to have antihypertensive activities, but, except for angiotensin-converting enzyme II inhibition, the underlying mechanisms remain unclear. Corin is an atrial natriuretic peptide (ANP)-converting enzyme....
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Transcriptomic profiles and their correlations in saliva and gingival tissue biopsy samples from periodontitis and healthy patients

Jeon YS, Cha JK, Choi SH, Lee JH, Lee JS

Purpose: This study was conducted to analyze specific RNA expression profiles in gingival tissue and saliva samples in periodontitis patients and healthy individuals, and to determine their correlations in light...
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Identification of Significant Prognostic Tissue Markers Associated with Survival in Upper Urinary Tract Urothelial Carcinoma Patients Treated with Radical Nephroureterectomy: A Retrospective Immunohistochemical Analysis Using Tissue Microarray

Kim SH, Park WS, Park B, Chung J, Joung JY, Lee KH, Seo HK

Purpose The purpose of this study was to identify prognostic tissue markers for several survival outcomes after radical nephroureterectomy among patients with upper urinary tract urothelial carcinoma using tissue microarray and...
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High-Throughput Multiplex Immunohistochemical Imaging of the Tumor and Its Microenvironment

Koh J, Kwak Y, Kim J, Kim WH

Purpose The aim of this study was to develop a formalin-fixed paraffin-embedded (FFPE) tissue based multiplex immunochemistry (mIHC) method for high-throughput comprehensive tissue imaging and demonstrate its feasibility, validity, and usefulness. Materials...
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Restoration of the inflammatory gene expression by horse oil in DNCB-treated mice skin

Lee JC, Park GR, Choi BS, Lee Y, Han CH

The present study evaluated the anti-inflammatory effect of horse oil in 2, 4-dinitrochlorobenzene (DNCB)-treated BALB/c mice. After the application of DNCB, the mice showed atopic dermatitis symptoms, including severe erythema,...
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