A5025069678- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Alzheimer's disease research and treatments
- Molecular Biology Techniques and Applications
- Gene expression and cancer classification
- TGF-β signaling in diseases
- Epigenetics and DNA Methylation
- Genetic and phenotypic traits in livestock
- Genetic Mapping and Diversity in Plants and Animals
- Cancer, Lipids, and Metabolism
- Genomics and Phylogenetic Studies
- Folate and B Vitamins Research
- Parkinson's Disease Mechanisms and Treatments
- Genetic factors in colorectal cancer
- Dementia and Cognitive Impairment Research
- Cancer Cells and Metastasis
- Advanced Proteomics Techniques and Applications
- Functional Brain Connectivity Studies
- Clinical practice guidelines implementation
- HIV/AIDS drug development and treatment
- Amyotrophic Lateral Sclerosis Research
- Hepatocellular Carcinoma Treatment and Prognosis
- Ferroptosis and cancer prognosis
- Congenital heart defects research
- Liver Disease Diagnosis and Treatment
Chosun University
2018-2025
Seoul National University
2012-2019
Korea Advanced Institute of Science and Technology
2010
Catholic University of Korea
2010
Identification of causative genes for hereditary nonsyndromic hearing loss (NSHL) is important to decide treatment modalities and counsel the patients. Due genetic heterogeneity in sensorineural disorders, high-throughput method can be adapted efficient diagnosis. To this end, we designed a new diagnostic pipeline screen all reported candidate NSHL. For validation pipeline, focused upon familial NSHL cases that are most likely genetic, rather than infectious or environmental. Among 32 cases,...
Variants in the APOE gene region may explain ethnic differences association of Alzheimer’s disease (AD) with ε4. Ethnic allele frequencies for three SNPs (single nucleotide polymorphisms) were identified and tested 19,398 East Asians (EastA), including Koreans Japanese, 15,836 European ancestry (EuroA) individuals, 4985 African Americans, brain imaging measures cortical atrophy sub-samples EuroAs. Among ε4/ε4 AD risk increased substantially a dose-dependent manner number promoter SNP...
Background Cognitive decline in older adults is influenced by diverse factors, and degrees of influence these factors may vary depending on sex, age cohorts, passage time. Moreover, differ their responsiveness to general interventions. Thus, identifying including interactions with age, panel wave conducting a systematic quantification influences cognitive function are both necessary for developing efficient intervention strategies. Methods To identify the influencing interactions, we applied...
Smad3, a major intracellular mediator of TGFβ signaling, functions as both positive and negative regulator in carcinogenesis. In response to TGFβ, the receptor phosphorylates serine residues at Smad3 C-tail. Cancer cells often contain high levels MAPK CDK activities, which can lead linker region becoming highly phosphorylated. Here, we report, for first time, that mutation phosphorylation sites markedly inhibited primary tumor growth, but significantly increased lung metastasis breast cancer...
TGF-β1 is a multifunctional cytokine that mediates diverse biological processes. However, the mechanisms by which intracellular signals of are terminated not well understood. Here, we demonstrate DRAK2 serves as TGF-β1-inducible antagonist TGF-β signaling. stimulation rapidly induces expression and enhances endogenous interaction type I receptor with DRAK2, thereby blocking R-Smads recruitment. Depletion markedly augmented intensity extent responses. Furthermore, high level was observed in...
The genetic heterogeneity of sensorineural hearing loss is a major hurdle to the efficient discovery disease-causing genes. We designed multiphasic analysis copy number variation (CNV), linkage, and single nucleotide (SNV) whole exome sequencing (WES) data for mutations causing nonsyndromic (NSHL). From WES data, we identified five distinct CNV loci from NSHL family, but they were not co-segregated among patients. Linkage based on SNVs six candidate (logarithm odds [LOD] >1.5). selected 15...
This study was aimed to identify blood-based biomarkers predict a sustained complete response (CR) after transarterial chemoembolization (TACE) using targeted proteomics. Consecutive patients with HCC who had undergone TACE were prospectively enrolled (training (n = 100) and validation set 80)). Serum samples obtained before 6 months TACE. Treatment responses evaluated the modified Response Evaluation Criteria in Solid Tumors (mRECIST). In training set, MRM-MS assay identified five marker...
Protein tyrosine kinase 7 (PTK7), also known as colon carcinoma 4 (CCK-4), is a member of the catalytically defective receptor protein family and upregulated in various cancers, where it to act either an oncoprotein or tumor suppressor. To understand contrasting roles PTK7 tumorigenesis, we analyzed tumorigenic characteristics esophageal squamous cell (ESCC) cells with low levels endogenous expression (TE-5 TE-14 cells) high (TE-6 TE-10 after transfections vector. overexpression increased...
Glutamate-mediated cytotoxicity has been implicated in the pathogenesis of neurological diseases, including Parkinson's disease, Alzheimer's and stroke. In this study, we investigated protective effects alpha-lipoic acid (ALA), a naturally occurring thiol antioxidant, on glutamate-induced cultured C6 astroglial cells. Exposure to high-dose glutamate (10 mM) caused oxidative stress mitochondrial dysfunction through elevation reactive oxygen species, depletion glutathione, loss membrane...
Abstract Established genetic risk factors for Alzheimer’s disease (AD) account only a portion of AD heritability. The aim this study was to identify novel associations between variants and AD-specific brain atrophy. We conducted genome-wide association studies magnetic resonance imaging measures hippocampal volume entorhinal cortical thickness in 2643 Koreans meeting the clinical criteria ( n = 209), mild cognitive impairment 1449) or normal cognition 985). A missense variant, rs77359862...
Abstract The purpose of this study was to identify genotypes associated with dose-adjusted tacrolimus trough concentrations (C 0 /D) in kidney transplant recipients using whole-exome sequencing (WES). This included 147 patients administered tacrolimus, including seventy-five the discovery set and seventy-two replication set. patient genomes were sequenced WES. Also, known pharmacokinetics-related intron variants genotyped. Tacrolimus C /D log-transformed. Sixteen identified novel CYP3A7...
Preoperative chemoradiotherapy (CRT) has become a widely used treatment for improving local control of disease and increasing survival rates rectal cancer patients. We aimed to identify set genes that can be predict responses CRT in patients with cancer. Gene expression profiles pre-therapeutic biopsy specimens obtained from 77 were analyzed using DNA microarrays. The response was determined the Dworak tumor regression grade: grade 1 (minimal, MI), 2 (moderate, MO), 3 (near total, NT), or 4...
Heterogeneity of lung function levels and risk for developing chronic obstructive pulmonary disease (COPD) among people exposed to the same environmental factors, such as cigarette smoking, suggest an important role genetic factors in COPD susceptibility. To investigate possible different susceptibility across ethnicities. We used a population-stratified analysis for: (i) identifying ethnic-specific loci, (ii) polygenic prediction models using those SNPs, (iii) validating with independent...
Gastric cancer is a malignant tumor with high incidence and mortality rate worldwide. Nevertheless, anticancer drugs that can be used for gastric treatment are limited. Therefore, it important to develop targeted the of cancer. Dehydroabietic acid (DAA) diterpene found in tree pine. Previous studies have demonstrated DAA inhibits cell proliferation by inducing apoptosis. However, we did not know how cells through In this study, attempted identify genes induce cycle arrest death, as well...
Undirected graphical models or Markov random fields have been a popular class of for representing conditional dependence relationships between nodes. In particular, networks help us to understand complex interactions genes in biological processes cell. Local Poisson seem be promising modeling positive as well negative dependencies count data. Furthermore, when zero counts are more frequent than expected, excess zeros should considered the model.
Neoantigens are tumor-derived peptides and biomarkers that can predict prognosis related to immune checkpoint inhibition by estimating their binding major histocompatibility complex (MHC) proteins. Although deep neural networks have been primarily used for these prediction models, it is difficult interpret the models reported thus far as accurately representing interactions between biomolecules. In this study, we propose GraphMHC model, which utilizes a graph network model applied molecular...
Despite the many successes of genome-wide association studies (GWAS), known susceptibility variants identified by GWAS have modest effect sizes, leading to notable skepticism about effectiveness building a risk prediction model from large-scale genetic data. However, in contrast variants, family history diseases has been largely accepted as an important factor clinical diagnosis and prediction. Nevertheless, complicated structures limited their application practice. Here, we developed new...
Bladder cancer prognosis remains a pressing clinical challenge, necessitating the identification of novel biomarkers for precise survival prediction and improved quality life outcomes. This study proposes comprehensive strategy to uncover key prognostic in bladder using DNA methylation analysis extreme pattern observations matched pairs adjacent normal cells. Unlike traditional approaches that overlook heterogeneity by analyzing entire samples, our methodology leverages patient-matched...
Background Recently, a modified insulin-like growth factor-1 (IGF)–Child-Turcotte-Pugh (CTP) classification was proposed to improve the original CTP classification. This study aimed validate new IGF-CTP system as prognostic maker for patients with hepatocellular carcinoma (HCC) in hepatitis B virus endemic area. Methods We conducted post-hoc analysis of prospective cohort study. used Harrell's C-index and U-statistics compare performance both classifications overall survival. evaluated...
Heat shock factor 1 (HSF1) is a key regulator of the heat response and plays an important role in various cancers. However, HSF1 gastric cancer still unknown. The present study evaluated function related mechanisms cancer.The expression levels normal tissues were compared using cDNA microarray data from NCBI Gene Expression Omnibus (GEO) dataset. proliferation cells was analyzed WST assay. Transwell migration invasion assays used to evaluate abilities cells. Protein immunohistochemical...