Browsing "Medical Genetics" by Publication Year :

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Showing results 1 to 50 of 228

Pub YearTitleAJOU Author(s)
2024Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT)손영배
2024Anti-adipogenic and anti-obesity effects of morroniside in vitro and in vivo박은국, 정선용
2024Anti-obesity effects of Celosia cristata flower extract in vitro and in vivo박은국, 정선용
2024Interferon-Induced Transmembrane Protein 1 (IFITM1) Is Downregulated in Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors김정현, 박은국, 정선용
2023Anti-Osteoarthritic Effects of Prunella Vulgaris and Gentiana Lutea In Vitro and In Vivo김정현, 박은국, 정선용
2023Inhibitory Effects of Loganin on Adipogenesis In Vitro and In Vivo김정현, 박은국, 정선용
2023Aperiodic alternating nystagmus in adult-onset Alexander disease with a novel mutation손영배, 이성준, 이진수, 홍지만
2023UBAP2 plays a role in bone homeostasis through the regulation of osteoblastogenesis and osteoclastogenesis김범택, 김정현, 박은국, 원예연, 정선용, 정윤석, 최용준
2023Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from com-pound heterozygous mutations in the ABCC8 gene손영배, 이해상, 황진순
2022Inhibitory Effect of Ulmus davidiana and Cornus officinalis Extracts on Osteoporotic Bone Loss In Vitro and In Vivo김정현, 박은국, 정선용
2022Effects of Loganin on Bone Formation and Resorption In Vitro and In Vivo김정현, 박은국, 정선용
2022Updates on Paget’s Disease of Bone손영배, 정윤석, 최용준
2022RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A손영배
2022Ribes fasciculatum Ameliorates High-Fat-Diet-Induced Obesity by Elevating Peripheral Thermogenic Signaling박은국
2022Genetic obesity: an update with emerging therapeutic approaches손영배
2022Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair손영배
2022The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure손영배
2022A Comparison of the Antiosteoporotic Effects of Cornelian Cherry (Cornus mas L.) Extracts from Red and Yellow Fruits Containing Different Constituents of Polyphenols and Iridoids in Osteoblasts and Osteoclasts박은국, 정선용
2021Anti-obesity effects of combined cornus officinalis and ribes fasciculatum extract in high-fat diet-induced obese male mice박은국, 이창근, 정선용
2021Ameliorative effects of loganin on arthritis in chondrocytes and destabilization of the medial meniscus-induced animal model김정현, 박은국, 이창근, 정선용
2021Antiosteoarthritic effect of morroniside in chondrocyte inflammation and destabilization of medial meniscus‐induced mouse model김정현, 박은국, 양시영, 이창근, 정선용
2021Anti-osteoporotic effect of morroniside on osteoblast and osteoclast differentiation in vitro and ovariectomized mice in vivo김정현, 박은국, 이창근, 정선용
2021Osteoprotective effects of loganic acid on osteoblastic and osteoclastic cells and osteoporosis-induced mice김정현, 박은국, 이창근, 정선용
2021Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome손영배
2021Neurofibromin deficiency causes epidermal growth factor receptor upregulation through the activation of Ras/ERK/SP1 signaling pathway in neurofibromatosis type 1-associated malignant peripheral nerve sheet tumor김정현, 박건후, 박은국, 이창근, 정선용
2021Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience김정택, 손영배, 조재호
2020Scopolin Attenuates Osteoporotic Bone Loss in Ovariectomized Mice김정현, 박은국, 정선용
2020Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing금창대, 노정기, 이해상, 정선용, 정재연, 황진순
2020Efficacy and Safety of Combined Extracts of Cornus officinalis and Ribes fasciculatum for Body Fat Reduction in Overweight Women김정현, 박은국, 이창근, 정선용
2020Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review박동규, 손성향, 손영배, 윤정한
2020Antiobesity Effects of Gentiana lutea Extract on 3T3-L1 Preadipocytes and a High-Fat Diet-Induced Mouse Model박은국, 이창근, 정선용
2020Antiadipogenic Effects of Mixtures of Cornus officinalis and Ribes fasciculatum Extracts on 3T3-L1 Preadipocytes and High-Fat Diet-Induced Mice박은국, 이창근, 정선용
2020Loss of Heterozygosity at Chromosome 16q Is a Negative Prognostic Factor in Korean Pediatric Patients with Favorable Histology Wilms Tumor: A Report of the Korean Pediatric Hematology Oncology Group (K-PHOG)노오규, 박준은, 이용희, 정선용
2020The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects손영배
2020Anti-Osteoporotic Effects of the Herbal Mixture of Cornus officinalis and Achyranthes japonica In Vitro and In Vivo김정현, 박은국, 이창근, 정선용
2020Anti-Menopausal Effects of Cornus officinalis and Ribes fasciculatum Extract In Vitro and In Vivo박은국, 정선용
2020Scopolin Prevents Adipocyte Differentiation in 3T3-L1 Preadipocytes and Weight Gain in an Ovariectomy-Induced Obese Mouse Model김정현, 박은국, 이창근, 정선용
2019Anti-Osteoporotic Effects of Kukoamine B Isolated from Lycii Radicis Cortex Extract on Osteoblast and Osteoclast Cells and Ovariectomized Osteoporosis Model Mice김정현, 박은국, 정선용
2019Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis손영배, 장주영
2019Synergistic Neuroprotective Effect of Schisandra chinensis and Ribes fasciculatum on Neuronal Cell Death and Scopolamine-Induced Cognitive Impairment in Rats김정현, 박은국, 정선용
2019The loss of succinate dehydrogenase B expression is frequently identified in hemangioblastoma of the central nervous system김세혁, 김장희, 노진, 노태훈, 이기범, 임현이, 정선용
2019Anti-Osteoporotic Effects of Combined Extract of Lycii Radicis Cortex and Achyranthes japonica in Osteoblast and Osteoclast Cells and Ovariectomized Mice김정현, 박은국, 정선용
2019Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial손영배
2019Drp1 Phosphorylation Is Indispensable for Steroidogenesis in Leydig Cells정선용
2019Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia손영배
2019Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia손영배
2019Cirsium japonicum var. maackii and apigenin block Hif-2alpha-induced osteoarthritic cartilage destruction강이중, 박은국, 양시영, 정선용
2018Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism김정현, 박은국, 정선용
2018Antiadipogenic Effects of Loganic Acid in 3T3-L1 Preadipocytes and Ovariectomized Mice김정현, 박은국, 정선용
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
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