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AJOU Open Repository Journal Papers School of Medicine / Graduate School of Medicine

Medical Genetics242

Pub YearTitleAuthor(s)
2014TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.손영배, 임현이, 정선용, 한재호
2015Targeted inhibition of mitochondrial Hsp90 induces mitochondrial elongation in Hep3B hepatocellular carcinoma cells undergoing apoptosis by increasing the ROS level.정선용
2009The Clinical Features, Immunostaining and Genetic Study in Duchenne/Becker Muscular Dystrophy고정민
2010The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome.고정민
2014The effect of Lycii Radicis Cortex extract on bone formation in vitro and in vivo.김정현, 박은국, 정선용, 정윤석, 조두연
2018The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology손영배
2015The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.손영배, 임신영
2020The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects손영배
2012The Genetic Variations of ESR1 Gene are Associated with Blood Pressure Traits in the Korean Women진현석
2022The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure손영배
2019The loss of succinate dehydrogenase B expression is frequently identified in hemangioblastoma of the central nervous system김세혁, 김장희, 노진, 노태훈, 이기범, 임현이, 정선용
2010The natural history and prognostic factors of Graves’ disease in Korean children and adolescents고정민
2014The PARK2 gene is involved in the maintenance of pancreatic β-cell functions related to insulin production and secretion.강엽, 정선용, 진현석
2013The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.손영배
2007The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome김현주
2022Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair손영배
2014TIMP-1 modulates chemotaxis of human neural stem cells through CD63 and integrin signalling.이명애, 정선용
2017Transcriptional profiling of human femoral mesenchymal stem cells in osteoporosis and its association with adipogenesis원예연, 정선용, 정윤석, 최용준
2011Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis윤수한, 정선용
2012Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence손영배
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