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Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia.
J Clin Endocrinol Metab. 2017 Aug 1;102(8):2914-2921. doi: 10.1210/jc.2017-00768.
J Clin Endocrinol Metab. 2017.
PMID: 28541532
Free PMC article.
Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model.
Chen JH, Goh KJ, Rocha N, Groeneveld MP, Minic M, Barrett TG, Savage D, Semple RK.
Chen JH, et al. Among authors: groeneveld mp.
Dis Model Mech. 2017 Dec 19;10(12):1411-1420. doi: 10.1242/dmm.030981.
Dis Model Mech. 2017.
PMID: 28982679
Free PMC article.
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Acute knockdown of the insulin receptor or its substrates Irs1 and 2 in 3T3-L1 adipocytes suppresses adiponectin production.
Groeneveld MP, Brierley GV, Rocha NM, Siddle K, Semple RK.
Groeneveld MP, et al.
Sci Rep. 2016 Feb 18;6:21105. doi: 10.1038/srep21105.
Sci Rep. 2016.
PMID: 26888756
Free PMC article.
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Adiponectin and leptin in human severe insulin resistance - diagnostic utility and biological insights.
Groeneveld MP, Huang-Doran I, Semple RK.
Groeneveld MP, et al.
Biochimie. 2012 Oct;94(10):2172-9. doi: 10.1016/j.biochi.2012.01.021. Epub 2012 Feb 4.
Biochimie. 2012.
PMID: 22342226
Review.
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Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK.
Lindhurst MJ, et al. Among authors: groeneveld mp.
Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332.
Nat Genet. 2012.
PMID: 22729222
Free PMC article.
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Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K.
Schoenmakers E, et al.
J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15.
J Clin Invest. 2010.
PMID: 21084748
Free PMC article.
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