A5066418771- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Mitochondrial Function and Pathology
- Genetic diversity and population structure
- RNA Research and Splicing
- Forensic and Genetic Research
- Molecular Biology Techniques and Applications
- Botulinum Toxin and Related Neurological Disorders
- Heat shock proteins research
- Cellular Mechanics and Interactions
- Plant and animal studies
- RNA regulation and disease
- Powdery Mildew Fungal Diseases
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- Toxin Mechanisms and Immunotoxins
- Neurobiology and Insect Physiology Research
- Cardiomyopathy and Myosin Studies
- RNA and protein synthesis mechanisms
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Peripheral Neuropathies and Disorders
- Cellular transport and secretion
- Ecology and Conservation Studies
Kongju National University
2016-2025
Macrogen (South Korea)
2024
Memorial Sloan Kettering Cancer Center
2023
Gongju National University of Education
2016
Ewha Womans University
2008-2013
Yonsei University
2008
University of Pittsburgh
2003
CHA University
2002
Chang Gung University
1995
Seoul National University
1992
Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase protein, have recently been reported to cause both Charcot–Marie–Tooth 2A (CMT2A) and hereditary motor sensory neuropathy VI (HMSN VI). It is well known that HMSN an axonal CMT with optic atrophy. However, differences between CMT2A MFN2 mutations remained be clarified. Therefore, we studied phenotypic characteristics of patients mutations. were screened 62 unrelated families. We calculated scores (CMTNSs)...
Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterized by distal limb muscle weakness and atrophy. Although at least 15 genes have been implicated in neuropathy, the genetic causes remain elusive many families. To identify an additional causal gene for we performed exome sequencing two affected individuals unaffected members Taiwanese family with autosomal dominant which mutations common neuropathy-implicated had excluded. The revealed...
Charcot–Marie–Tooth disease (CMT) is one of the most common inherited neuropathies and a genetically clinically heterogeneous disorder with variable inheritance modes. As several molecules have been reported to therapeutic effects on CMT, depending underlying genetic causes, exact diagnostics become very important for executing personalized therapy. Whole-exome sequencing has recently introduced as an available method identify rare or novel defects from disorders. Particularly, CMT model...
<h3>Objective:</h3> To identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4B (CMT4B) family. <h3>Methods:</h3> We enrolled 14 members a Korean family in which 3 individuals had CMT4B phenotype and obtained distal sural nerve biopsies from all affected participants. conducted exome sequencing on 6 samples (3 unaffected individuals). <h3>Results:</h3> One pair heterozygous missense mutations SET binding factor 1 (<i>SBF1</i>) gene (22q13.33),...
Inherited peripheral neuropathies (IPN), which are a group of clinically and genetically heterogeneous nerve disorders including Charcot-Marie-Tooth disease (CMT), exhibit progressive degeneration muscles in the extremities loss sensory function. Over 70 genes have been reported as genetic causatives number is still growing. We prepared targeted gene panel for IPN diagnosis based on next generation sequencing (NGS). The was designed to detect mutations 73 be causes or related neuropathies,...
We examined CMT1A duplication of 17p11.2-p12, mutations PMP22, MPZ (P0), GJB1 (Cx32), EGR2 and NEFL genes in 57 Korean families with patients diagnosed as having Charcot-Marie-Tooth (CMT) disease. The was present 53.6% 28 CMT type 1 patients. In the 42 without duplication, 10 pathogenic were found 9 families. not detected 105 healthy controls. Seven (c.318delT (p.Ala106fs) c.352G>A (p.Asp118Asn), c.449-1G>T (3′-splice site), c.706A>G (p.Lys236Glu) MPZ, c.408T>C (p.Val136Ala), c.502T>C...
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of peripheral neuropathies with diverse genetic causes. In this study, we identified p.I43N mutation in PMP2 from family exhibiting autosomal dominant demyelinating CMT neuropathy by whole exome sequencing and characterized the clinical features. The age at onset was first to second decades muscle atrophy started distal portion leg. Predominant fatty replacement anterior lateral compartment similar that CMT1A caused PMP22...
The CRISPR/Cas9 system has been widely applied as a precise gene-editing tool for studying gene functions well improving agricultural traits in various crop plants. Here, we optimized lettuce (Lactuca sativa L.) using the endogenous U6 promoter and proved that PHOT2 is versatile target gene. We isolated LsU6-10 from 10 snRNA genes identified genome database comparison with AtU6-26 used to drive sgRNAs lettuce. Two vectors were constructed promoters sgRNA361 chloroplast avoidance response was...
Both peripheral neuropathy and distal myopathy are well-established inherited neuromuscular disorders characterized by progressive weakness atrophy of the limb muscles. A complex phenotype neuropathy, myopathy, hoarseness, hearing loss was diagnosed in a large autosomal dominant Korean family. high density single nucleotide polymorphism (SNP)-based linkage study mapped underlying gene to region on chromosome 19q13.3. The maximum multipoint LOD score 3.794. Sequencing 34 positional candidate...
The prevalence of the feeling cold hands and feet (FCHF) is high in general population but etiology FCHF largely unknown. aim present study was to explore whether heritable. Eight hundred ninety-four pairs twins completed a question about FCHF. Tetrachoric correlations for were .58, .29, .67, .52, .04 monozygotic male, dizygotic female, female twins, respectively. Model-fitting analyses suggested that best fitting model, additive genetic nonshared environmental variance including measurement...
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and a genetically clinically heterogeneous disorder. We examined Korean family in which two individuals had an autosomal-dominant axonal CMT with early-onset, sensory ataxia, tremor, slow progression. Pedigree analysis exome sequencing identified de novo missense mutation (p.Y223H) diacylglycerol O-acyltransferase 2 (DGAT2) gene. DGAT2 encodes endoplasmic reticulum-mitochondrial-associated membrane protein,...
Charcot-Marie-Tooth disease 2A (CMT2A) is the most common axonal form of peripheral neuropathy caused by a defect in mitofusin 2 (MFN2) gene, which encodes an outer mitochondrial membrane GTPase. MFN2 mutations result large range phenotypes. This study analyzed prevalence mutation Korean families with their assorted phenotypes (607 CMT and 160 CMT2 families). Direct sequencing coding exons or whole-exome has been applied to identify causative mutations. A total 21 were found 36 families....
Objective Distal myopathy is a heterogeneous group of muscle diseases characterized by predominant distal weakness. A study was done to identify the underlying cause autosomal recessive adolescent onset myopathy. Methods Four patients from 2 unrelated Korean families were evaluated. To isolate genetic cause, exome sequencing performed. In vitro and in vivo assays using myoblast cells zebrafish models performed examine ADSSL1 mutation causing pathogenesis. Results Patients had an phenotype...
Objective MicroRNAs (miRNAs) regulate gene expression during the peri-implantation period. The purpose of this study was to investigate whether genetic polymorphisms in four miRNAs associated with fetal or placental development play roles idiopathic recurrent pregnancy loss (RPL) Korean females. Study design A case-control involving 225 controls and 387 women at least two consecutively losses between 1999 2012 performed. genotypes miRNA polymorphisms, including miR-27a rs895819, miR-423...
Genotyping of highly polymorphic short tandem repeat (STR) markers is widely used for the genetic identification individuals in forensic DNA analyses and paternity disputes. The National Profile Databank recently established by Identification Act Korea contains computerized STR profiles convicted crimes. For establishment a large autosomal loci population database, 1805 samples were obtained at random from Korean 15 analyzed using AmpFlSTR Identifiler PCR Amplification kit. markers, no...
Abstract Glycyl‐ tRNA synthetase ( GARS ), which encodes the enzyme responsible for charging (Gly) with glycine in both cytoplasm and mitochondria, is implicated to Charcot‐Marie‐Tooth disease 2D CMT2D ) distal hereditary motor neuropathy type V dHMN ‐V). We performed whole exome sequencing WES identify genetic defects two families. revealed several decades of non‐synonymous variants CMT aminoacyl‐ genes. The subsequent capillary family members controls novel causative mutations, c. 598G...
<h3>Importance</h3>Hereditary motor and sensory neuropathy with proximal dominance (HMSN-P) has been reported as a rare type of autosomal dominant adult-onset Charcot-Marie-Tooth disease. HMSN-P described only in Japanese descendants since 1997, the causative gene not found.<h3>Objectives</h3>To identify genetic cause Korean family determine pathogenic mechanism.<h3>Design</h3>Genetic observational analysis.<h3>Setting</h3>Translational research center for neurologic...