- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Botulinum Toxin and Related Neurological Disorders
- Neurological diseases and metabolism
- Health and Wellbeing Research
- Stroke Rehabilitation and Recovery
- Health and Well-being Studies
- Advanced Sensor and Energy Harvesting Materials
- Gastrointestinal disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- RNA regulation and disease
- Conducting polymers and applications
- Infection Control and Ventilation
- Pneumocystis jirovecii pneumonia detection and treatment
- Folate and B Vitamins Research
- RNA Research and Splicing
- Metabolism and Genetic Disorders
- Smoking Behavior and Cessation
- Pancreatic and Hepatic Oncology Research
- Heat shock proteins research
- Dupuytren's Contracture and Treatments
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- Dementia and Cognitive Impairment Research
- Toxin Mechanisms and Immunotoxins
- Blood disorders and treatments
Sungkyunkwan University
2020-2024
Samsung Medical Center
2021-2023
Ajou University
2017-2020
Kangbuk Samsung Hospital
2020
Ulsan College
2014
University of Ulsan
2014
Asan Medical Center
2014
Effective mitigation technology to prevent the spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is required before achieving population immunity through vaccines. Here we demonstrate a virus-blocking textile (VBT) that repulses SARS-CoV-2 by applying repulsive Coulomb force particles, powered human body triboelectric energy harvesting. We show has negative charges, and generates high output current which peak-to-peak value reaches 259.6 μA at most, based on effect....
Abstract Charcot–Marie–Tooth disease (CMT) is the most common hereditary peripheral neuropathy. Mutations in neurofilament light polypeptide ( NEFL ) gene produce diverse clinical phenotypes, including demyelinating (CMT1F), axonal (CMT2E), and intermediate (CMTDIG) neuropathies. From 2005 to 2020, 1,143 Korean CMT families underwent sequencing, we investigated clinical, genetic, neuroimaging spectra of ‐related patients. Ten mutations 17 (1.49%) were identified, which three (p.L312P,...
Duplication and deletion of the peripheral myelin protein 22 (PMP22) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) hereditary neuropathy with liability to pressure palsies (HNPP), respectively, while point mutations or small insertions deletions (indels) usually CMT 1E (CMT1E) HNPP. This study was performed identify PMP22 analyze genotype–phenotype correlation in Korean families. By application whole-exome sequencing (WES) targeted panel (TS), we identified 14 pathogenic likely 21...
Smoking cessation reduces the cardiovascular risk but increases body weight. We investigated of subsequent myocardial infarction and ischemic stroke according to weight gain after smoking cessation, using a nationwide population based cohort. enrolled 3,797,572 Korean adults aged over 40 years who participated in national health screenings between 2009 2010. Subjects quit were classified into three subgroups change baseline 4 prior. Myocardial infarctions strokes followed until end 2015....
Abstract Mutations in INF2 are associated with the complex symptoms of Charcot‐Marie‐Tooth disease (CMT) and focal segmental glomerulosclerosis (FSGS). To date, more than 100 30 genes have been reported to cause these disorders, respectively. This study aimed identify mutations Korean patients CMT. was conducted 743 families CMT who were negative for PMP22 duplication. In addition, a family FSGS included this study. screened using whole exome sequencing (WES) filtering processes. As results,...
There is a need for measures that can prevent the onset of dementia in rapidly aging population. Reportedly, sustained physical exercise cognitive decline and disability. This study aimed to assess feasibility 12-week intervention (PEI) delay disability at-risk elderly population Korea. Twenty-six participants (aged 67.9 ± 3.6 years, 84.6% female) at risk were assigned facility-based PEI (n = 15) or home-based 11). The program consisted muscle strength training, aerobic exercise, balance,...
Charcot-Marie-Tooth disease (CMT) and related diseases are a genetically clinically heterogeneous group of peripheral neuropathies. Particularly, mutations in several aminoacyl-tRNA synthetase (ARS) genes have been reported to cause axonal CMT (CMT2) or distal hereditary motor neuropathy (dHMN). However, the common pathogenesis among subtypes by different ARS gene defects is not well understood. This study was performed investigate cohort 710 Korean families. Whole-exome sequencing applied...
Charcot–Marie–Tooth disease (CMT) is the most common inherited peripheral neuropathy. Mutations in GNB4 gene cause dominant intermediate CMT type F (CMTDIF). The aim of this study to investigate phenotypic heterogeneities and characteristics patients with mutations. We enrolled 1143 Korean families excluded 344 a PMP22 duplication. further analyzed 799 remaining find their mutations using whole-exome sequencing (WES). identified two (p.Gly77Arg p.Lys89Glu) three families, among which...
Small heat shock proteins (sHSPs) are ATP-independent chaperones that help correct the folding of denatured and protect cells from stress. Mutations in HSPB1, HSPB8, HSPB3 implicated inherited peripheral neuropathies (IPNs), such as Charcot-Marie-Tooth disease type 2 (CMT2) distal hereditary motor (dHMN). This study, using whole exome sequencing or targeted gene sequencing, identified 9 pathogenic likely variants these three sHSP genes 11 Korean IPN families. Most were located evolutionally...
Abstract The objectives of this study were to assess the fat fraction (FF) and cross-sectional area (CSA) sciatic nerve in Charcot-Marie-Tooth disease type 1A (CMT1A) patients using Dixon-based proton density quantification MRI elucidate its potential association with clinical parameters. Thigh MRIs 18 CMT1A age- sex-matched volunteers enrolled for a previous reviewed. Analyses FF CSA performed at three levels (proximal distal). compared between two groups among different within each group....
Charcot-Marie-Tooth disease (CMT) is the most common disorder of inherited peripheral neuropathies characterized by distal muscle weakness and sensory loss. CMT usually classified into three types, demyelinating, axonal, intermediate neuropathies. Mutations in myelin protein zero (MPZ) gene which encodes a transmembrane Schwann cells as major component have been reported to cause various type CMT.This study screened MPZ mutations Korean patients (1,121 families) whole exome sequencing...
<title>Abstract</title> <bold>Background </bold>This is the first gene therapy trial in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). Intramuscular injectionsof VM202, a plasmid DNA encoding human hepatocyte growth factor, was safe, tolerable and potentially effective CMT1A. <bold>Methods</bold> This study phase 1/2a, nonrandomized controlled trial. Thirteen CMT1A were screened, 12 consented enrolled between September 2020 November 2020. Patients received intramuscular...
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Abstract The objectives of this study were to assess the fat fraction (FF) and cross-sectional area (CSA) sciatic nerve in Charcot-Marie-Tooth disease type 1A (CMT1A) patients using Dixon-based proton density quantification MRI elucidate its potential association with clinical parameters. Thigh MRIs 18 CMT1A age- sex-matched volunteers enrolled for a previous reviewed. Analyses FF CSA performed at three levels (proximal distal). compared between two groups among different within each group....
In randomized phase 3 clinical trials azacitidine has been shown to prolong survival in patients with higher-risk myelodysplastic syndrome (MDS). Therefore, therapy should be considered for treating MDS disease. A 78- year-old male was administered the first cycle of treatment MDS. On day three chemotherapy he complained fever and dyspnea, radiographic findings revealed bilateral perihilar-peribronchial infiltration a small amount pleural effusion. Considering possibility pneumonia,...
This is a pilot study to investigate feasibility of 12-week physical exercise intervention (12WPEI) prevent cognitive decline and disability in Korean at-risk elderly people. 26 participants (68.2±3.9 years, 84.6% female), dementia disability, were enrolled from community health center: institutional 12WPEI (15 participants, 3 visits/week, 50-mintute/visit) home-based (11 1 visit 2 self-exercise at home/week, 50-minute/session) as preference. The session was performed group with 4–13...
Physical performance in the elderly has important effects on their independence. We evaluated whether our structured and multicomponent exercise program to prevent cognitive decline disability Korean at-risk would improve physical after 12-week intervention (12WPEI) predictors for improvement. 22 individuals (17 females, 68.9 years) of dementia but cognition at non-demented status were recruited from a community health center: institutional 12WPEI (13 individuals, 3 visits/week, 50-minute...
Charcot-Marie-Tooth disease (CMT) is a spectrum of clinically and genetically heterogeneous peripheral neuropathies. CMT can be classified into demyelinating, intermediate, or axonal neuropathy based on clinical, histopathological, electrophysiological findings. Approximately 140 genes have been reported to associated with CMT. Mutations in the myelin protein zero (MPZ), ganglioside-induced differentiation related 1 (GDAP1), neurofilament light-chain polypeptide gene (NEFL) cause all three...
Efficient mitigation strategies to prevent spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are required before achieving population immunity through vaccines. Inspired by the negatively charged nature SARS-CoV-2 aerosols, in present study, we demonstrate a virus blocking textile (VBT) which repulse particles based on Coulomb force. Also, that human body triboelectric energy harvesting can be promising powering source for continuous, highly efficient VBT. We found...
Other SectionsAbstractIntroductionCharcot–Marie-Tooth Disease Type 2ConclusionConflict of interestAuthors’ ContributionsTableReference