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Original Article A Study on Insulin action using fibroblast of leprechaunism patients.
Si Whan Koh, Yoo Joung Oh, Mi Koung Chang, Yun Soo Bae, Dong Kyu Jin
Diabetes & Metabolism Journal 2006;30(1):39-46
DOI: https://doi.org/10.4093/jkda.2006.30.1.39
Published online: January 1, 2006
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1Department of Pediatrics, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea.
2Clinical Research, Samsung Biomedical Research Institute, Seoul, Korea.
3Division of Molecular Life Sciences, Center for Cell Signaling Research, Ewha Womans University, Seoul, Korea.

BACKGROUND
Leprechaunism, which is caused by insulin receptor defect, is clinically characterized by hyperinsulinemia, stunted growth, dysmorphic somatic abnormalities, lipodystrophy and early death around 2-3 years of age. METHODS: In this study we describe 2 cases of Korean leprechaunism patients. In addition, the disturbed insulin induced effects such as glucose uptake, insulin binding assay, thymidine uptake and PDGF stimulated phosphorylation change were investigated using the fibroblasts from 1 Korean patient and those from 4 foreign leprechaunism patients. RESULTS: The morphologic study of fibroblasts derived from patient suggests that the fibroblasts of patient are less differentiated than the fibroblasts of control. Moreover, insulin induced pathways as well as PDGF stimulated phosphorylation change were disturbed in the fibroblasts of the patient. CONCLUSION: Our results suggest that the signal transduction in the fibroblasts of leprechaunism is reduced not only by insulin stimuli but also by other growth factors like PDGF.

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    A Study on Insulin action using fibroblast of leprechaunism patients.
    Korean Diabetes J. 2006;30(1):39-46.   Published online January 1, 2006
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Koh SW, Oh YJ, Chang MK, Bae YS, Jin DK. A Study on Insulin action using fibroblast of leprechaunism patients.. Diabetes Metab J. 2006;30(1):39-46.
DOI: https://doi.org/10.4093/jkda.2006.30.1.39.

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