A5101938643- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Alzheimer's disease research and treatments
- Genetics and Neurodevelopmental Disorders
- Advanced Biosensing Techniques and Applications
- Pluripotent Stem Cells Research
- Glycosylation and Glycoproteins Research
- Cholinesterase and Neurodegenerative Diseases
- Genetic Associations and Epidemiology
- HIV Research and Treatment
- Lipid Membrane Structure and Behavior
- Male Breast Health Studies
- T-cell and B-cell Immunology
- Neuroinflammation and Neurodegeneration Mechanisms
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Carbohydrate Chemistry and Synthesis
- Blood disorders and treatments
- Cancer-related gene regulation
- Innovative Approaches in Technology and Social Development
- Statistical Methods in Clinical Trials
- Medicinal Plants and Neuroprotection
- Hematological disorders and diagnostics
- Estrogen and related hormone effects
- Smart Cities and Technologies
- Protein Structure and Dynamics
Seoul National University
2019-2024
Chonnam National University Hospital
2023
National University College
2023
New Generation University College
2023
Kyungpook National University
2023
Jeonbuk National University
2023
Daegu Haany University
2023
Korea Institute of Radiological and Medical Sciences
2023
Pusan National University
2023
Korea University of International Studies
2023
Abstract Despite substantial advances in disease genetics, studies to date have largely focused on individuals of European descent. This limits further discoveries novel functional genetic variants other ethnic groups. To alleviate the paucity East Asian population genome resources, we established Korean Variant Archive 2 (KOVA 2), which is composed 1896 whole-genome sequences and 3409 whole-exome from healthy ethnicity. largest database date, surpassing 1909 deposited gnomAD. The KOVA...
Cerebral organoids (COs) are the most advanced in vitro models that resemble human brain. The use of COs as a model for Alzheimer's disease (AD), well other brain diseases, has recently gained attention. This study aimed to develop AD CO using normal pluripotent stem cells (hPSCs) recapitulates pathological phenotypes and determine usefulness this drug screening. We established hPSC lines from hPSCs by introducing genes harbor familial mutations, were generated these lines. features AD,...
Abstract Microglia play a crucial role in synaptic elimination by engulfing dystrophic neurons via triggering receptors expressed on myeloid cells 2 (TREM2). They are also involved the clearance of beta‐amyloid (Aβ) plaques Alzheimer's disease (AD); nonetheless, driving force behind TREM2‐mediated phagocytosis remains unknown. Here, using advanced 2D/3D/4D co‐culture systems with loss‐of‐function mutations TREM2 (a frameshift mutation engineered exon 2) brain organoids/microglia/assembloids,...
The default lipid for the bulk of crystallogenesis studies performed to date using cubic mesophase method is monoolein. There no good reason however, why this 18-carbon, cis-monounsaturated monoacylglycerol should be preferred all target membrane proteins. latter come from an array biomembrane types with varying properties that include hydrophobic thickness, intrinsic curvature, lateral pressure profile, and protein makeup, compositional asymmetry. Thus, it seems reasonable screening...
Abstract (2,2‐Dimethyl‐1,3‐dioxolan‐4‐yl) methyl hexanoate 5‐Hexanoic acid 4‐(Dimethylamino)pyridine N,N ′‐Dicyclohexylcarboimide DL‐1,2‐sopropylidene glycerol 1‐Iodo‐1‐octyne Iodine n ‐Butyllithium ( Z)‐ 1‐Iodo‐1‐octene Borane dimethyl sulfide complex Cyclohexane (2,2‐Dimethyl‐1,3‐dioxolan‐4‐yl)methyl tetra‐7‐enolate 9‐Borabicyclo[3.3.1]none Cesium carbonate Triphenylarsine Dichlor[1,1′‐bis(diphenylphosphino)ferrocene]palladium(II),dichloromethne 2,3‐Dihydroxypropyl tetradec‐7‐enoate
Despite recent advancements in our understanding of genetic etiology and its molecular physiological consequences, it is not yet clear what features determine the inheritance pattern a disease. To address this issue, we conducted whole exome sequencing analysis to characterize variants 1,180 Korean patients with neurological symptoms. The diagnostic yield for definitive pathogenic variant findings was 50.8%, after including 33 cases (5.9%) additionally diagnosed by reanalysis. Of patients,...
A substantial portion of Mendelian disease patients suffers from genetic variants that are inherited in a recessive manner. precise understanding pathogenic population would assist pre-screening births such patients. However, systematic the contribution to diseases is still lacking. Therefore, diagnosis and variant discovery 553 undiagnosed Korean with complex neurodevelopmental problems (KND for NeuroDevelopmental cohort) were performed using whole exome sequencing their parents....
The implications of germline de novo variants (DNVs) in diseases are well documented. Despite extensive research, inconsistencies between studies remain a challenge, and the distribution genetic characteristics DNVs need to be precisely evaluated. To address this issue at whole-genome scale, large number identified from sequencing 1,902 healthy trios (i.e., parents progeny) Simons Foundation for Autism Research Initiative study 20 Korean were analyzed. These apparently nonpathogenic enriched...
Abstract Background Cerebral organoids (COs) are the most advanced in vitro models that resemble human brain. Use of COs as a model for Alzheimer’s disease (AD), among other brain diseases, has recently gained attention. This study aimed to develop AD CO model, using normal pluripotent stem cells (hPSCs), recapitulates pathological phenotypes and determine usefulness this drug screening. Methods We established hPSC lines from hPSCs by introducing genes with familial ADmutations were...
Abstract Background A substantial portion of Mendelian disease patients suffers from genetic variants that are inherited in a recessive manner. precise understanding pathogenic population would assist pre-screening births such patients. However, systematic the contribution to diseases is still lacking. Methods Genetic diagnosis and variant discovery 553 undiagnosed Korean with complex neurodevelopmental problems (KND for NeuroDevelopmental cohort) were performed using whole exome sequencing...
Abstract Despite substantial advances in disease genetics, studies to date have largely focused on individuals of European descent, limiting further discoveries novel functional genetic variants other ethnic groups. To alleviate the paucity East Asian population genome resource, we established Korean Variant Archive 2 (KOVA 2), composed 1,896 whole sequences and 3,409 exome from healthy ethnicity. This is largest database date, surpassing 1,909 deposited gnomAD. The KOVA displayed all known...