A5101494329- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- Autism Spectrum Disorder Research
- Genomics and Chromatin Dynamics
- RNA regulation and disease
- CRISPR and Genetic Engineering
- Orthopedic Surgery and Rehabilitation
- Neuroscience and Neuropharmacology Research
- Ubiquitin and proteasome pathways
- Venous Thromboembolism Diagnosis and Management
- Mycotoxins in Agriculture and Food
- Plant Disease Resistance and Genetics
- Tea Polyphenols and Effects
- Plant Pathogens and Fungal Diseases
- Epigenetics and DNA Methylation
- MicroRNA in disease regulation
- Phosphodiesterase function and regulation
- Neurogenesis and neuroplasticity mechanisms
- Muscle and Compartmental Disorders
- Genomic variations and chromosomal abnormalities
- Metabolomics and Mass Spectrometry Studies
- Atrial Fibrillation Management and Outcomes
- Veterinary Orthopedics and Neurology
- Spinal Cord Injury Research
- Protein Tyrosine Phosphatases
Korea University
2016-2024
Chung-Ang University Hospital
2023
Chung-Ang University
2022-2023
Daegu-Gyeongbuk Medical Innovation Foundation
2021
Chungnam National University
2016
Kyushu University
2015
National Human Genome Research Institute
2012-2015
Korea Institute of Science and Technology
2015
National Institutes of Health
2012
Office of Chief Medical Examiner
2006
The 67-kDa laminin receptor (67LR) is a laminin-binding protein overexpressed in various types of cancer, including bile duct carcinoma, colorectal cervical and breast carcinoma. 67LR plays vital role growth metastasis tumor cells resistance to chemotherapy. Here, we show that functions as cancer-specific death receptor. In this cell pathway, cGMP initiated by activating the PKCδ/acid sphingomyelinase (PKCδ/ASM) pathway. Furthermore, upregulation was rate-determining process 67LR-dependent...
Mania causes symptoms of hyperactivity, impulsivity, elevated mood, reduced anxiety, and decreased need for sleep, which suggests that the dysfunction striatum, a critical component brain motor reward system, can be causally associated with mania. However, detailed molecular pathophysiology underlying striatal in mania remains largely unknown. In this study, we aimed to identify pathways showing alterations striatum Shank3 (SH3 multiple ankyrin repeat domains 3)-overexpressing transgenic...
Yoonhee Kim, Yinhua Zhang, Kaifang Pang, Hyojin Kang, Heejoo Park, Yeunkum Lee, Bokyoung Heon-Jeong Won-Ki Dongho Geum and Kihoon Han. Exp Neurobiol 2016;25:296-306. https://doi.org/10.5607/en.2016.25.6.296
Variants of the SHANK3 (SH3 and multiple ankyrin repeat domains 3) gene, encoding excitatory postsynaptic core scaffolding proteins, are causally associated with numerous neurodevelopmental neuropsychiatric disorders, including autism spectrum disorders (ASDs), bipolar disorder, intellectual disability, schizophrenia (SCZ). Although detailed synaptic changes various Shank3 mutant mice have been well-characterized, broader downstream molecular changes, both direct indirect remain largely...
Recent molecular genetic studies have identified hundreds of risk genes for various neurodevelopmental and neuropsychiatric disorders. As the number increases, it is becoming clear that different mutations a single gene could cause types One best examples such SHANK3, which encodes core scaffold protein neuronal excitatory postsynapse. Deletions, duplications, point SHANK3 are associated with autism spectrum disorders, intellectual disability, schizophrenia, bipolar disorder, attention...
Abstract Green tea extract (GTE) induces apoptosis of cancer cells without adversely affecting normal cells. Several clinical trials reported that GTE was well tolerated and had potential anti-cancer efficacy. Epigallocatechin-3- O -gallate (EGCG) is the primary compound responsible for effect GTE; however, EGCG alone limited. To identify compounds capable potentiating bioactivity, we performed metabolic profiling 43 green cultivar panels by liquid chromatography–mass spectrometry (LC–MS)....
Abstract The SH3 and multiple ankyrin repeat domains 3 (Shank3) proteins are core organizers of the postsynaptic density in neuronal excitatory synapses, their defects cause various neurodevelopmental neuropsychiatric disorders. Mechanistically, Shank3 directly indirectly interacts with hundreds synaptic diverse functions potentially exerts its regulatory roles development function via these interactors. However, Shank3‐dependent regulation abundance has been validated vivo for only a few...
De novo variants in the Cytoplasmic FMR1-interacting protein 2 (CYFIP2) have been repeatedly associated with neurodevelopmental disorders and epilepsy, underscoring its critical role brain development function. While CYFIP2's regulating actin polymerization as part of WAVE regulatory complex (WRC) is well-established, additional molecular functions remain relatively unexplored. In this study, we performed unbiased quantitative proteomic analysis, revealing 278 differentially expressed...
Abstract The SH3 and multiple ankyrin repeat domains 3 (Shank3) protein is a core organizer of the macromolecular complex in excitatory postsynapses, its defects cause numerous synaptopathies, including autism spectrum disorders. Although function Shank3 as postsynaptic scaffold adequately established, other potential mechanisms through which broadly modulates proteome remain relatively unexplored. In our previous quantitative proteomic analysis, six up-regulated ribosomal proteins were...
Abstract Photochemical thrombosis is a method for the induction of ischemic stroke in cerebral cortex. It can generate localized infarcts desired region; therefore, it has been actively employed establishing an animal model and vivo assays diagnostic therapeutic techniques stroke. To establish rabbit overcome shortcoming previous studies that were difficult to build standardized photothrombotic model, we developed photochemical system produce consistent brain damage on specific area. verify...
Here, we report the generation and comprehensive characterization of a knockin mouse model for hotspot p.Arg87Cys variant cytoplasmic FMR1‐interacting protein 2 ( CYFIP2 ) gene, which was recently identified in individuals diagnosed with West syndrome, developmental epileptic encephalopathy. The Cyfip2 +/R87C mice recapitulated many neurological neurobehavioral phenotypes patients, including spasmlike movements, microcephaly, impaired social communication. Age‐progressive cytoarchitectural...
Both deletions and duplications of the SH3 multiple ankyrin repeat domains 3 (SHANK3) gene, encoding excitatory postsynaptic scaffolds, are causally associated with various brain disorders, suggesting that proper Shank3 dosage is critical for normal development function. In addition to its well-established synaptic functions, recent studies have suggested can also affect gene expression in nucleus. However, it has not been investigated whether there a group genes whose directional regulated...
<b><i>Objective:</i></b> Custom genotyping of markers in families with familial idiopathic scoliosis were used to fine-map candidate regions on chromosomes 9 and 16 order identify genes that contribute this disorder prioritize them for next-generation sequence analysis. <b><i>Methods:</i></b> Candidate 9q 16p–16q, previously identified as linked a study 202 families, genotyped high-density map single nucleotide polymorphisms. Tests linkage...
Genetic variants of the SH3 and multiple ankyrin repeat domains 3 (SHANK3) gene, which encodes excitatory postsynaptic core scaffolds cause numerous brain disorders. Several lines Shank3 knock-out (KO) mice with deletions different exons have previously been generated characterized. The KO mouse both common line-specific phenotypes. isoform diversity is considered a mechanism underlying phenotypic heterogeneity, compensatory changes through regulation expression may contribute to this...
Various mutations in the SH3 and multiple ankyrin repeat domains 3 (SHANK3) gene are associated with neurodevelopmental neuropsychiatric disorders. Thus far, synaptic abnormalities brain regions, including hippocampus, prefrontal cortex, striatum, ventral tegmental area, have been investigated several lines of Shank3 mutant mice. However, although some reports shown loss gain body weight knock-out overexpressing transgenic (TG) mice, respectively, potential functions hypothalamus, a region...
We report the case of a 27-year-old survivor Halloween crowd crush in Itaewon, Seoul, Korea who was diagnosed with left sciatic neuropathy and right common peroneal accompanied by multifocal rhabdomyolysis. The patient presented to emergency room complaining pain from her lower back whole extremities paraparesis paresthesia. Her blood test showed marked elevation creatine kinase liver enzymes. Magnetic resonance imaging revealed signal changes abdominalis pelvic girdle muscles suggestive...
Background: Deep vein thrombosis (DVT) and pulmonary thromboembolism (PTE) are major complications of spinal cord disease. However, studies their incidence in Korean patients limited. Thus, this study investigated the risk factors DVT PTE with disease.Methods: We retrospectively analyzed medical records 271 disease who were admitted to a rehabilitation unit within 3 months onset at tertiary hospital. The presence was mainly determined using Doppler ultrasonography chest embolism computed...
A 56-year-old man complained of continuous pain in the right foot that began 6 months after undergoing surgery on calcaneus bone. The patient was diagnosed with complex regional syndrome (CRPS) type I and treated medication, lumbar sympathetic ganglion blocks, epidural nerve spinal cord stimulation. However, all treatments were halted because they ineffective or complications developed. Peripheral stimulation (PNS) planned confirming analgesic effects a sciatic block, received PNS via...