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iPSC-derived β cells model diabetes due to glucokinase deficiency.
Hua H, Shang L, Martinez H, Freeby M, Gallagher MP, Ludwig T, Deng L, Greenberg E, Leduc C, Chung WK, Goland R, Leibel RL, Egli D. Hua H, et al. J Clin Invest. 2013 Jul;123(7):3146-53. doi: 10.1172/JCI67638. Epub 2013 Jun 17. J Clin Invest. 2013. PMID: 23778137 Free PMC article. Retracted.
Functional consequences of the human leptin receptor (LEPR) Q223R transversion.
Stratigopoulos G, LeDuc CA, Matsuoka N, Gutman R, Rausch R, Robertson SA, Myers MG Jr, Chung WK, Chua SC Jr, Leibel RL. Stratigopoulos G, et al. Obesity (Silver Spring). 2009 Jan;17(1):126-35. doi: 10.1038/oby.2008.489. Epub 2008 Nov 6. Obesity (Silver Spring). 2009. PMID: 18997673 Free PMC article.