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Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency...
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High-risk human papillomavirus testing as a primary screening for cervical cancer: position statement by the Korean Society of Obstetrics and Gynecology and the Korean Society of Gynecologic Oncology

Kong TW, Kim M, Kim YH, Kim YB, Kim J, Kim JW, Park MH, Park JH, Rhee JH, Lim MC, Hong JS

Based on emerging data and current knowledge regarding high-risk human papillomavirus (hrHPV) testing as a primary screening for cervical cancer, the Korean Society of Obstetrics and Gynecology and the Korean...
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Enzymes involved in folate metabolism and its implication for cancer treatment

Kim SE

BACKGROUND/OBJECTIVES: Folate plays a critical role in DNA synthesis and methylation. Intracellular folate homeostasis is maintained by the enzymes folylpolyglutamate synthase (FPGS) and γ-glutamyl hydrolase (GGH). FPGS adds glutamate residues...
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Happle-Tinschert Syndrome: A Case Report of Unilateral Segmentally Arranged Basaloid Follicular Hamartoma with Scoliosis and Review of Literature

Seo SH, Lee SE, Kim SC

Happle-Tinschert syndrome is a rare disease characterized by unilateral, segmentally arranged basaloid follicular hamartoma (BFH) with osseous, dental, and cerebral anomalies. Although BFH has been demonstrated to be associated with...
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Epigenetic Regulation of Filaggrin Gene Expression in Human Epidermal Keratinocytes

Lee J, Jang A, Seo SJ, Myung SC

BACKGROUND: Loss-of-function mutations in the filaggrin gene (FLG), which encodes an epidermal protein crucial for the formation of a functional skin barrier, have been identified as a major predisposing factor...
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Characteristics of DNMT3A mutations in acute myeloid leukemia

Park DJ, Kwon A, Cho BS, Kim HJ, Hwang KA, Kim M, Kim Y

BACKGROUND: DNMT3A mutations occur in approximately 20% of AML cases and are associated with changes in DNA methylation. CDKN2B plays an important role in the regulation of hematopoietic progenitor cells...
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The Influence of Bcl-3 Expression on Cell Migration and Chemosensitivity of Gastric Cancer Cells via Regulating Hypoxia-Induced Protective Autophagy

Hu L, Bai Z, Ma X, Bai N, Zhang Z

PURPOSE: Gastric cancer is a highly metastatic malignant tumor, often characterized by chemoresistance and high mortality. In the present study, we aimed to investigate the role of B-cell lymphoma 3...
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Genetic Characterization of Molecular Targets in Korean Patients with Gastrointestinal Stromal Tumors

Park J, Yoo HM, Sul HJ, Shin S, Lee SW, Kim JG

PURPOSE: Gastrointestinal stromal tumors (GISTs) frequently harbor activating gene mutations in either KIT or platelet-derived growth factor receptor A (PDGFRA) and are highly responsive to several selective tyrosine kinase inhibitors....
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Frequency of Mycobacterium tuberculosis Among M. tuberculosis Complex Strains Isolated from Clinical Specimen

Cho H, Kim JB, Uh Y

BACKGROUND: Rapid and accurate detection of Mycobacterium tuberculosis (MTB) is of primary importance for infection control and selection of anti-tuberculosis drugs. However, most clinical laboratories report MTB complex (MTC) without...
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High-risk human papillomavirus testing as a primary screening for cervical cancer: position statement by the Korean Society of Obstetrics and Gynecology and the Korean Society of Gynecologic Oncology

Kong TW, Kim M, Kim YH, Kim YB, Kim J, Kim JW, Park MH, Park JH, Rhee JH, Lim MC, Hong JS, on behalf of Korean Society of Obstetrics and Gynecology developed by Position Statement Writing Committee

Based on emerging data and current knowledge regarding high-risk human papillomavirus (hrHPV) testing as a primary screening for cervical cancer, the Korean Society of Obstetrics and Gynecology and the Korean...
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Human papillomavirus (HPV) DNA detection in uterine cervix cancer after radiation indicating recurrence: a systematic review and meta-analysis

Sabeena S, Kuriakose , Damodaran , Ravishankar N, Arunkumar

OBJECTIVE: The causal association of human papillomavirus (HPV) in uterine cervical cancer was well established and this oncogenic virus was reported to be a biomarker for overall recurrence and central...
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Evaluation of the QuantaMatrix Multiplexed Assay Platform for Molecular Diagnosis of Multidrug- and Extensively Drug-Resistant Tuberculosis Using Clinical Strains Isolated in Myanmar

Chang Y, Kim S, Kim Y, Ei PW, Hwang D, Lee J, Chang CL, Lee H

BACKGROUND: Although the incidence of tuberculosis (TB) is decreasing, cases of multidrug-resistant (MDR) TB and extensively drug-resistant (XDR) TB continue to increase. As conventional phenotype drug susceptibility testing (pDST) takes...
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Matrix Metallopeptidase 3 Polymorphisms: Emerging genetic Markers in Human Breast Cancer Metastasis

Suhaimi SA, Chan SC, Rosli R

Matrix metallopeptidase 3 or MMP3, is a zinc-dependent proteolytic enzyme that is involved in various physiological processes via modification of the extracellular matrix. In particular, its over-expression has been associated...
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Hepatitis B Prophylaxis after Liver Transplantation in Korea: Analysis of the KOTRY Database

Park GC, Hwang S, Kim MS, Jung DH, Song GW, Lee KW, Kim JM, Lee JG, Ryu JH, Choi DL, Wang HJ, Kim BW, Kim DS, Nah YW, You YK, Kang KJ, Yu HC, Park YH, Lee KJ, Kim YK

BACKGROUND: Prophylaxis for hepatitis B virus (HBV) recurrence is essential after liver transplantation (LT) in HBV-associated recipients. We conducted real-world analysis of HBV prophylaxis after LT in the Korean population. METHODS:...
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NOTCH1 Pathway is Involved in Polyhexamethylene Guanidine-Induced Humidifier Disinfectant Lung Injuries

Lee E, Kang MJ, Kim JH, Lee SH, Lee SY, Cho HJ, Yoon J, Jung S, Park Y, Oh DK, Hong SB, Hong SJ

An outbreak of fatal humidifier disinfectant lung injuries (HDLI) occurred in Korea. Human studies on mechanisms underlying HDLI have yet to be conducted. This study aimed to investigate methylation changes...
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Minocycline and Its Impact on Microbial Dysbiosis in the Skin and Gastrointestinal Tract of Acne Patients

Thompson K, Rainer BM, Antonescu , Florea L, Mongodin E, Kang S, Chien AL

BACKGROUND: Associations between acne and gastrointestinal comorbidities suggest that microbial dysbiosis and intestinal permeability may promote inflammatory acne, a condition often managed with oral antibiotics. OBJECTIVE: We performed a case-control study...
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Rapid detection of deformed wing virus in honeybee using ultra-rapid qPCR and a DNA-chip

Kim JM, Lim SJ, Kim S, Kim M, Kim B, Tai TA, Kim S, Yoon B

Fast and accurate detection of viral RNA pathogens is important in apiculture. A polymerase chain reaction (PCR)-based detection method has been developed, which is simple, specific, and sensitive. In this...
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Fluoxetine Induces Apoptotic and Oxidative Neuronal Death Associated with The Influx of Copper Ions in Cultured Neuronal Cells

Hwang S, Kim JK

We examined the effect of fluoxetine, a selective serotonin reuptake inhibitor antidepressant, on neuronal viability in mouse cortical near-pure neuronal cultures. Addition of fluoxetine to the media for 24 hours...
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Epigenetic Changes in Asthma: Role of DNA CpG Methylation

Bae DJ, Jun JA, Chang HS, Park JS, Park CS

For the past three decades, more than a thousand of genetic studies have been performed to find out the genetic variants responsible for the risk of asthma. Until now, all...
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Comparison of 16S Ribosomal RNA Targeted Sequencing and Culture for Bacterial Identification in Normally Sterile Body Fluid Samples: Report of a 10-Year Clinical Laboratory Review

Yoo IY, Kang OK, Lee MK, Kim YJ, Cho SY, Huh K, Kang CI, Chung DR, Peck KR, Huh HJ, Lee NY

As 16S ribosomal RNA (rRNA)-targeted sequencing can detect DNA from non-viable bacteria, it can be used to identify pathogens from clinical samples even in patients pretreated with antibiotics. We compared...
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