A5103041533- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Chromatin Remodeling and Cancer
- Glycosylation and Glycoproteins Research
- Viral-associated cancers and disorders
- Cancer-related gene regulation
- Lymphoma Diagnosis and Treatment
- Acute Myeloid Leukemia Research
- Chemical Synthesis and Analysis
- Genetic factors in colorectal cancer
- Cancer-related molecular mechanisms research
- Cancer Diagnosis and Treatment
- RNA modifications and cancer
- Nuclear Receptors and Signaling
- Lung Cancer Treatments and Mutations
- Platelet Disorders and Treatments
- Gastric Cancer Management and Outcomes
- Retinoids in leukemia and cellular processes
- Tumors and Oncological Cases
- Circular RNAs in diseases
- Polyomavirus and related diseases
- RNA Research and Splicing
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- Histone Deacetylase Inhibitors Research
Korea University Medical Center
2025
Korea University
2007-2024
Seoul National University
2014-2024
New Generation University College
2024
Korea Pharma (South Korea)
2022
Seoul National University Hospital
2022
Macrogen (South Korea)
2021
Universidad Nacional de Asunción
2020
Anaplastic thyroid cancer (ATC) and advanced differentiated cancers (DTCs) show fatal outcomes, unlike DTCs. Here, we demonstrate mutational landscape of 27 ATCs 86 DTCs by massively-parallel DNA sequencing, transcriptome 13 12 were profiled RNA sequencing. TERT, AKT1, PIK3CA, EIF1AX frequently co-mutated with driver genes (BRAFV600E RAS) in as well ATC, but tumor suppressors (e.g., TP53 CDKN2A) predominantly altered ATC. CDKN2A loss was significantly associated poor disease-specific...
// Seungbok Lee 1, * , Ha Young Park 2, So Kang 3 Seok Jin Kim 4 Jinha Hwang 2 Seungho 7 Soo Heon Kwak 5 Kyong 5, 6 Hae Yong Yoo Won Seog 4, Jong-Il 8, Hyeh Ko 3, 1 Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University, Seoul, Korea Department of Biomedical Sciences, University Graduate School, Pathology, Samsung Sungkyunkwan School Medicine, Division Hematology-Oncology, Internal Hospital, Molecular and Biopharmaceutical Convergence Science Technology College...
Intestinal-type gastric carcinoma exhibits a multistep carcinogenic sequence from adenoma to with gradual increase in genomic alterations. But the roles of microRNAs (miRNA) this multistage cascade are not fully explored. To identify differentially expressed miRNA (DEM) during early carcinogenesis, we performed microarray profiling 24 cancers and precursor lesions (7 cancer [EGC], 3 adenomas high-grade dysplasia, 4 low-grade 10 adjacent normal tissues). Alterations expression 132 were...
Several recurrent mutations and epigenetic changes have been identified in advanced gastric cancer, but the genetic alterations associated with early carcinogenesis malignant transformation remain unclear. We investigated genomic transcriptomic landscape of adenomas low-grade dysplasia (LGD) high-grade (HGD), intestinal-type cancer (EGC). The results were validated an independent cohort that included EGCs directly adjacent to adenoma (EGC-adenomas) process transformation, de novo do not seem...
Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infections and hospitalization in infants young children. Here, we analyzed genetic diversity RSV using partial G gene sequences 84 RSV-A 78 RSV- B positive samples collected Seoul, South Korea, for 10 consecutive years, from 2010 to 2019. Our phylogenetic analysis revealed that strains were classified into either ON1 (80.9%) or NA1 (19.0%) genotypes. On other hand, RSV-B demonstrated diversified clusters...
Relatively few recurrent gene fusion events have been associated with breast cancer to date. In an effort uncover novel transcripts, we performed whole‐transcriptome sequencing of 120 fresh‐frozen primary samples and five adjacent normal tissues using the Illumina HiSeq2000 platform. Three different fusion‐detecting tools (deFuse, Chimerascan, TopHatFusion) were used, results compared. These detected 3,831, 6,630 516 transcripts (FTs) overall. We primarily focused on obtained deFuse...
Background/Objectives: Mutations in RAS/RAF are common colorectal cancer (CRC) and play a pivotal role guiding treatment selection. With the recent advent of immunotherapy, microsatellite (MSI) status, tumor mutation burden (TMB), POLE mutations, particularly those leading to high TMB, have gained importance CRC. This study aimed examine clinicopathological characteristics patients with CRC mutations. Methods: We identified mutations who had available next-generation sequencing (NGS) results...
Cancer of unknown primary (CUP) is a rare type metastatic cancer in which the origin tumor unknown. Since treatment strategy for patients with tumors depends on knowing site, accurate identification site important. Here, we developed an image-based deep-learning model that utilizes vision transformer algorithm predicting CUP. Using DNA methylation dataset 8,233 from The Genome Atlas (TCGA), categorized 29 types into 18 organ classes and extracted 2,312 differentially methylated CpG sites...
Genome-wide association studies have been used extensively to identify genetic variants linked metabolic syndrome (MetS), but most of them conducted in non-Asian populations. This study aimed evaluate the between MetS and previously studied single nucleotide polymorphisms (SNPs), their interaction with health-related behavior Korean men. Seventeen SNPs were genotyped its components was tested 1193 men who enrolled at Seoul National University Hospital. We found that rs662799 near APOA5...
To identify epigenetically regulated genes involved in the pathogenesis of Alzheimer's disease (AD) we analyzed global mRNA expression and methylation profiles amyloid precursor protein (APP)-Swedish mutant-expressing AD model cells, H4-sw selected heme oxygenase-1 (HMOX1), which is associated with pathological features such as neurofibrillary tangles senile plaques. We examined epigenetic regulatory mechanism HMOX1 its application a diagnostic prognostic biomarker for AD. Our results show...
Invasive mucinous adenocarcinoma (IMA) of the lung frequently presents with diffuse pneumonic-type features or multifocal lesions, which are regarded as a pattern intrapulmonary metastases. However, genomics IMAs have not been well studied. We performed whole exome sequencing on samples taken from 2 to 5 regions in seven patients synchronous (24 total). Early initiating driver events, such KRAS, NKX2-1, TP53, ARID1A mutations, clonal mutations and were present all each patient. The tumor...
Abstract We explored the genomic events underlying central neurocytoma (CN), a rare neoplasm of nervous system, via multiomics approaches, including whole-exome sequencing, bulk and single-nuclei RNA methylation sequencing. identified FGFR3 hypomethylation leading to overexpression as major event in ontogeny CN that affects crucial downstream events, such aberrant PI3K-AKT activity neuronal development pathways. Furthermore, we found similarities between radial glial cells based on analyses...
Abstract Keratinocyte-derived cytokines and chemokines amplify psoriatic inflammation by recruiting IL-17-producing CCR6 + γδT-cells neutrophils. The expression of these mainly depends on NF-κB activity; however, the pathway that activates in response to triggering factors is poorly defined. Here, we show transglutaminase 2 (TG2), previously reported elicit a T H 17 increasing IL-6 mouse model lung fibrosis, mediates upregulation activating imiquimod (IMQ)-treated keratinocytes....
Central adiposity, rather than body mass index (BMI), is a key pathophysiological feature of the development obesity-related diseases. Although genetic studies by anthropometric measures such as waist circumference have been widely conducted, for abdominal fat deposition measured computed tomography (CT) rarely performed. A total 1,243 participants who were recruited from two health check-up centers included in this study. We selected four and three single-nucleotide polymorphisms (SNPs)...
Treating acute myeloid leukemia (AML) by targeting FMS-like tyrosine kinase 3 (FLT-3) is considered an effective treatment strategy. By using AI-assisted hit optimization, we discovered a novel and highly selective compound with desired drug-like properties which to target the FLT-3 (D835Y) mutant. In current study, applied
Heparin and low molecular weight heparins (LMWHs) have been the drug of choice for treatment or prevention thromboembolic disease. Different methods are employed to prepare LMWHs that clinically approved market currently. In particular, enoxaparin, which has a reducing sugar moiety at end-site polysaccharide, is prepared by alkaline depolymerization. Focusing on this end-site-specific activity LMWHs, we conjugated tetraoligomer deoxycholic acid (TetraDOCA; TD) enoxaparin via nonenzymatic...
Malignant phyllodes tumour (MPT) is a rare breast malignancy with epithelial and mesenchymal features. Currently, there are no appropriate research models or effective targeted therapeutic approaches for MPT.We collected fresh frozen tissues from nine patients MPT performed whole-exome RNA sequencing. Additionally, we established patient-derived xenograft (PDX) tested the efficacy of targeting dysregulated pathways in using PDX model one MPT.MPT has unique molecular characteristics when...
Complex karyotype (CK) is associated with a poor prognosis in both acute myeloid leukemia (AML) and myelodysplastic syndrome excess blasts (MDS-EB). Transcriptomic analyses have improved our understanding of the disease risk stratification neoplasms; however, CK-specific gene expression signatures been rarely investigated. In this study, we developed validated signature. Differential analysis between CK non-CK groups using data from 348 patients AML MDS-EB four cohorts revealed enrichment...
Mutations in the X-linked ZDHHC9 gene cause cognitive deficits humans, with a subset of patients suffering from epilepsy. intellectual disability (XLID) is often ascribed to neuronal deficits, but here we report that expression human and mouse orthologs far higher myelinating oligodendrocytes (OLs) than other CNS cell types. codes for protein acyltransferase (PAT), found most highly expressed PAT OLs. Wild type localizes Golgi outposts OL processes, PATs XLID mutant forms are restricted...
Mutations in the X-linked ZDHHC9 gene cause cognitive deficits humans, with a subset of patients suffering from epilepsy. intellectual disability (XLID) is often ascribed to neuronal deficits, but here we report that expression human and mouse orthologs far higher myelinating oligodendrocytes (OLs) than other CNS cell types. codes for protein acyltransferase (PAT), found most highly expressed PAT OLs. Wild type localizes Golgi outposts OL processes, PATs XLID mutant forms are restricted...