Browsing by Author 정성철

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Showing results 1 to 30 of 89

Issue DateTitleAuthor(s)Type
2014A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients정성철Article in Press
2013A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease구혜수; 유정현; 정성철Article
2015A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy구혜수; 우소연; 정성철; 박형준Article
2019Administration of Tonsil-Derived Mesenchymal Stem Cells Improves Glucose Tolerance in High Fat Diet-Induced Diabetic Mice via Insulin-Like Growth Factor-Binding Protein 5-Mediated Endoplasmic Reticulum Stress Modulation유경하; 우소연; 김한수; 정성철; 조인호; 박주원; 김유희; 조경아Article
2016ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy유정현; 정성철; 박형준Article
2008ALTERATION OF GENE EXPRESSION RELATED TO CARBOHYDRATE METABOLISM IN PLACENTA OF FETUS WITH INTRAUTERINE GROWTH RESTRICTION전선희; 김영주; 박미혜; 정성철Meeting Abstract
2009Alterations in transthyretin gene expression and its transcriptional regulation in a mouse model of phenylketonuria박주원Doctoral Thesis
2009Altered brain gene expression profiles associated with the pathogenesis of phenylketonuria in a mouse model박혜영; 정성철; 박주원Article
2018Application of differentiated human tonsil-derived stem cells to trembler-J mice정성철Article
2014Application of variant-calling algorithms for Mendelian disorders: Lessons from whole-exome sequencing in charcot-marie-tooth disease정성철Letter
2018Association of miR-149 polymorphism with onset age and severity in Charcot–Marie–Tooth disease type 1A정성철Article
2017Autophagy induction in the skeletal myogenic differentiation of human tonsil-derived mesenchymal stem cells정성철; 조인호; 안정혁; 유연실; 박세영Article
2017Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH정성철Article
2015CCN1 secreted by tonsil-derived mesenchymal stem cells promotes endothelial cell angiogenesis via integrin αvβ3 and AMPK유경하; 정성애; 김한수; 정성철; 조인호; 박윤신; 유연실Article
2015Characterisation of insulin-producing cells differentiated from tonsil derived mesenchymal stem cells유경하; 우소연; 김한수; 정성철; 조인호; 박주원Article
2010Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy정성철; 박은숙Article
2010Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer박혜영; 정성철Article
2014Characterization of long-term in vitro culture-related alterations of human tonsil-derived mesenchymal stem cells: Role for CCN1 in replicative senescence-associated increase in osteogenic differentiation유경하; 김한수; 정성철; 조인호; 박윤신; 유연실Article in Press
2011Clinical and allelic heterogeneity in hypochondroplasia producing phenotypic overlaps with achondroplasia정성철; 조인호Meeting Abstract
2010COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype정성철Article
2014Comparison of Gene expression Profiles in kidney cells and tissues related to Fabry disease신윤정Doctoral Thesis
2019Concise Review: Application of Tonsil-Derived Mesenchymal Stem Cells in Tissue Regeneration유경하; 우소연; 김한수; 정성철; 조인호; 박주원; 오세영Review
2007Development of prenatal genetic screening test using fetal cells in maternal blood김영주; 정성철Meeting Abstract
2016DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease구혜수; 정성철Article
2015Differentiated tonsil-derived mesenchymal stem cells embedded in Matrigel restore parathyroid cell functions in rats with parathyroidectomy유경하; 김한수; 정성철; 한기환; 조인호; 박윤신; 유연실Article
2018Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A정성철; 박세영Article
2019Differentiation of Motor Neuron-Like Cells from Tonsil-Derived Mesenchymal Stem Cells and Their Possible Application to Neuromuscular Junction Formation정성철; 박세영Article
2017Differentiation of Tonsil-Derived Mesenchymal Stem Cells into Schwann Cells정남희Doctoral Thesis
2006Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease; implications for neuronal loss in Gaucher disease정성철Article
2006Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease; implications for neuronal loss in Gaucher disease정성철Article

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