A5101931610- Acute Myeloid Leukemia Research
- Chronic Myeloid Leukemia Treatments
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Chemical Synthesis and Analysis
- Congenital heart defects research
- Ferrocene Chemistry and Applications
- Erythrocyte Function and Pathophysiology
- Acute Lymphoblastic Leukemia research
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- Mesenchymal stem cell research
- Dendrimers and Hyperbranched Polymers
- Innovative Microfluidic and Catalytic Techniques Innovation
- Advanced biosensing and bioanalysis techniques
- Neonatal Health and Biochemistry
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Advanced MIMO Systems Optimization
- Biosensors and Analytical Detection
- Prenatal Screening and Diagnostics
- Corneal surgery and disorders
- SARS-CoV-2 detection and testing
- Nonlinear Optical Materials Research
- Molecular Spectroscopy and Structure
- Tissue Engineering and Regenerative Medicine
Hallym University Kangnam Sacred Heart Hospital
2024
Kyungpook National University
2024
Catholic University of Korea
2014-2022
Sookmyung Women's University
2022
Seoul St. Mary's Hospital
2016-2021
Abstract Human perinatal tissue is an abundant source of mesenchymal stromal cells(MSCs) and lacks the ethical concerns. Perinatal MSCs can be obtained from various tissues as like amnion, chorion, umbilical cord. Still, little known distinct nature each MSC type. In this study, we successfully isolated cultured amnion(AMSCs), chorion(CMSCs), cord(UC-MSCs). Proliferation potential was different among them, that AMSCs revealed lowest proliferation rate due to increased Annexin V...
The aim of this study was to describe the mutational characteristics in Korean hereditary spherocytosis (HS) patients. Relevant literatures including genetically confirmed cases with well-documented clinical summaries and relevant information were also reviewed investigate gene- or domain-specific laboratory association. Twenty-five HS patients carried one heterozygous mutation ANK1 (n = 13) SPTB 12) but not SPTA1, SLC4A1, EPB42. Deleterious mutations frameshift, nonsense, splice site...
We identified principal genetic alterations in 97.1% (99/102) of patients with T-acute lymphoblastic leukemia (T-ALL) using integrative analyses, including massive parallel sequencing and multiplex ligation-dependent probe amplification (MLPA). A total 133 mutations were the following genes descending order: NOTCH1 (66.7%), FBXW7 (19.6%), PHF6 (15.7%), RUNX1 (12.7%), NRAS (10.8%), DNMT3A (9.8%). Copy number most frequently detected CDKN2B, CDKN2A, on 9p21.3 T-ALL (45.1%). Gene expression...
Human mesenchymal stromal cells (MSCs) have served as a major cellular resource for cell-based immunomodulatory and regenerative therapies. However, genomic instability may accumulate during ex vivo expansion of MSCs, thereby increasing the potential malignant transformation. Here, we performed whole genome sequencing two peripheral blood-derived MSC lines (MSC1 MSC2) at various passages (passage 1 [P1] to P9). The majority single-nucleotide variations (SNVs) occurred in later passages;...
To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier diagnostic test and to determine impact CMA results on patient management, we conducted multicenter prospective study in Korean patients diagnosed having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), multiple congenital anomalies (MCA).We performed both G-banding cytogenetics tests 617 patients. whether directly influenced treatment recommendations, referring...
We evaluated the characteristics of bone marrow stromal cells (BMSCs) and hematopoietic (HCs) from patients myelodysplastic syndrome (MDS, n=21) acute myeloid leukemia (AML, n=58), compared results with control BMSCs derived healthy donors (n=8). The patient had lower proliferative activity than that controls due to increased senescence. This retarded proliferation induced failure obtain enough metaphase for karyotyping in (10%). Patient were genetically altered which was demonstrated by...
Since the initial coronavirus disease outbreak in late 2019 (COVID-19), reverse-transcription real-time polymerase chain reaction (RT-qPCR) has become gold standard test to detect severe acute respiratory syndrome-related 2 (SARS-CoV-2). However, a more sensitive and accurate diagnostic tool was required. Therefore, droplet digital (ddPCR) suggested as an alternative method. Here, we evaluated performance of ddPCR SARS-CoV-2 compared it RT-qPCR. The analytical performances, including limit...
Jaewoong Lee, M.D., Joonhong Park, Ph.D., Hayoung Choi, B.S., Jiyeon Kim, Ahlm Kwon, Woori Jang, Hyojin Chae, Myungshin Yonggoo Jae Wook Nack-Gyun Chung, and Bin Cho, Ph.D.. Ann Lab Med 2017;37:108-16. https://doi.org/10.3343/alm.2017.37.2.108
Human bone marrow-mesenchymal stromal cells (hBM-MSCs) undergo cellular senescence during in vitro culture. In this study, we defined replicative as impaired proliferation, deterioration representative cell characteristics, accumulated DNA damage, and decreased telomere length telomerase activity with or without genomic abnormalities. The UBC gene expression gradually passaging along the reduction series of molecules including hub genes; CDK1, CCNA2, MCM10, E2F1, BRCA1, HIST1H1A HIST1H3B....
Corneal dystrophy typically refers to a group of rare hereditary disorders with heterogeneous genetic background. A comprehensive molecular analysis was performed characterize the spectrum corneal dystrophies in Korean patients. Patients various underwent thorough ophthalmic examination, histopathologic and Sanger sequencing. total 120 probands were included, mean age 50 years (SD = 18 years) 70% female. 26 mutations five genes (14 clearly pathogenic 12 likely pathogenic) identified 49...
Cell-free DNA (cfDNA) analysis, specifically circulating tumor (ctDNA) provides enormous opportunities for noninvasive early assessment of cancers. To date, PCR-based methods have led this field. However, the limited sensitivity/specificity necessitates search new methods. Here, we describe a direct approach to detect KRAS G12D mutated genes in clinical ctDNA samples with utmost LOD and sensitivity/specificity. In study, MutS protein was immobilized on tip an atomic force microscope (AFM),...
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by the proliferation of one or more myeloid lineages. The current study demonstrates that three driver mutations were detected in 82.6% 407 MPNs with a mutation distribution JAK2 275 (67.6%), CALR 55 (13.5%) and MPL 6 (1.5%). mutually exclusive principle except patient both mutations. directed pathologic features MPNs, including lineage hyperplasia, laboratory findings clinical presentation....
KIT exon 17 mutation is a poor prognostic factor in core-binding acute myeloid leukemia. However, the detection method used for risk assessment not assigned. It necessary to verify analytical and clinical performance before applying new methods. Herein, we firstly applied highly sensitive allele-specific, real-time quantitative PCR (AS-qPCR) assay analyze mutations, which demonstrated excellent sensitivity specificity. Much higher incidence of mutations (62.2%, 69/111) prevalence multiple...
The objective of this study was to explore characteristics bone marrow mesenchymal stromal cells (BM-MSCs) derived from patients with myelodysplastic syndrome (MDS) and multiple myeloma (MM).BM-MSCs were recovered 17 MDS patients, 23 MM 9 healthy donors passaged until proliferation stopped. General gene expression profiles MSCs analysed. In vitro, ex vivo coculture, immunohistochemistry knockdown experiments performed verify changes.BM-MSCs failed culture in 35.0% 50.0% BM-MSCs stopped...
Abstract Allogeneic stem cell transplantation is currently the only curative treatment option for myelodysplastic syndromes (MDS). Pre-transplant debulking have been employed advanced MDS and we previously reported that marrow response (blast ≤ 5%) following bridging therapy with hypomethylating agent was an independent favorable factor survival; however, it still not clear which patients will respond to genomic features can predict response. In this study, performed RNAseq 23 among 14 (61%)...
BCR-ABL1 –positive acute leukemia can be classified into three disease categories: B-lymphoblastic (B-ALL), myeloid (AML), and mixed-phenotype (MPAL). We conducted an integrative analysis of RNA sequencing (RNA-seq) data obtained from 12 B-ALL, AML, MPAL samples to evaluate its diagnostic utility. RNA-seq facilitated the identification all p190 with accurate splicing sites a new gene fusion involving MAP2K2 . Most clinically significant mutations were also identified including...
Hepatocellular carcinoma (HCC) is the second-most-common cause of cancer-related deaths worldwide, and an accurate non-invasive biomarker for early detection monitoring HCC required. We assessed pathogenic variants driver genes in cell-free DNA (cfDNA) from patients who had not undergone systemic therapy.Plasma cfDNA was collected 20 patients, deep sequencing performed using a customized next-generation panel, targeting major (TP53, CTNNB1, TERT) that incorporates molecular barcoding.In...
The single most common cause of miscarriage is genetic abnormality. We conducted a prospective cohort study to compare the performance conventional karyotyping and chromosomal microarray analysis (CMA) using array comparative genomic hybridization (array-CGH) nucleotide polymorphism (SNP-array) identify abnormalities in specimens. A total 63 specimens were included. Conventional karyotyping, array-CGH, SNP-array performed results compared. Genetic detected 31 cases (49.2%) by at least one...
Stem cell therapy has emerged as a novel treatment for heart failure after myocardial infarction (Ml). Bone marrow-derived mesenchymal stem cells (BM-MSCs) are commonly considered because of their accessibility and usability. However, therapeutic potential remains controversial. In our previous in vitro study, chorion-derived (C-MSCs) umbilical cord-derived (UC-MSCs) demonstrated an ability to differentiate into cardiomyocytes neural cells, respectively. Thus, we examined whether C-MSCs had...
Corneal dystrophies (CDs) are a diverse group of inherited disorders with heterogeneous genetic background. Here, we report the identification novel ZNF143 heterozygous missense mutation in three individuals same family clinical and pathological features that consistent endothelial CD. Ophthalmologic examination revealed diffuse corneal clouding edema decreased cell density. Pathological findings showed increased thickness due to basal epithelial cells stroma, abnormal metaplastic...
ABSTRACT We present a comprehensive analysis of COVID-19 transmission dynamics using an infection network derived from epidemiological data in South Korea, covering the period January 3, 2020, to July 11, 2021. This network, illustrating infector-infectee relationships, provides invaluable insights for managing and mitigating spread disease. However, significant missing hinder conventional such networks surveillance. To address this challenge, our research suggests novel approach...
The interaction between COVID-19 and tuberculosis (TB) is not yet fully understood, large-scale research on the mortality outcome of such dual infection has been limited. This study aimed to investigate impact PTB among patients with within a Korean population by conducting an extensive analysis nationwide large dataset.