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Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.
Wabitsch M, Funcke JB, von Schnurbein J, Denzer F, Lahr G, Mazen I, El-Gammal M, Denzer C, Moss A, Debatin KM, Gierschik P, Mistry V, Keogh JM, Farooqi IS, Moepps B, Fischer-Posovszky P. Wabitsch M, et al. J Clin Endocrinol Metab. 2015 Sep;100(9):3227-30. doi: 10.1210/jc.2015-2263. Epub 2015 Jul 17. J Clin Endocrinol Metab. 2015. PMID: 26186301 Free PMC article.
Leptin mediates the increase in blood pressure associated with obesity.
Simonds SE, Pryor JT, Ravussin E, Greenway FL, Dileone R, Allen AM, Bassi J, Elmquist JK, Keogh JM, Henning E, Myers MG Jr, Licinio J, Brown RD, Enriori PJ, O'Rahilly S, Sternson SM, Grove KL, Spanswick DC, Farooqi IS, Cowley MA. Simonds SE, et al. Cell. 2014 Dec 4;159(6):1404-16. doi: 10.1016/j.cell.2014.10.058. Cell. 2014. PMID: 25480301 Free PMC article.
Rare variants in single-minded 1 (SIM1) are associated with severe obesity.
Ramachandrappa S, Raimondo A, Cali AM, Keogh JM, Henning E, Saeed S, Thompson A, Garg S, Bochukova EG, Brage S, Trowse V, Wheeler E, Sullivan AE, Dattani M, Clayton PE, Datta V, Bruning JB, Wareham NJ, O'Rahilly S, Peet DJ, Barroso I, Whitelaw ML, Farooqi IS. Ramachandrappa S, et al. J Clin Invest. 2013 Jul;123(7):3042-50. doi: 10.1172/JCI68016. Epub 2013 Jun 17. J Clin Invest. 2013. PMID: 23778139 Free PMC article.
Human SH2B1 mutations are associated with maladaptive behaviors and obesity.
Doche ME, Bochukova EG, Su HW, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S, Dale A, Cheetham T, Barroso I, Argetsinger LS, O'Rahilly S, Rui L, Carter-Su C, Farooqi IS. Doche ME, et al. J Clin Invest. 2012 Dec;122(12):4732-6. doi: 10.1172/JCI62696. Epub 2012 Nov 19. J Clin Invest. 2012. PMID: 23160192 Free PMC article.
Large, rare chromosomal deletions associated with severe early-onset obesity.
Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O'Rahilly S, Hurles ME, Farooqi IS. Bochukova EG, et al. Nature. 2010 Feb 4;463(7281):666-70. doi: 10.1038/nature08689. Epub 2009 Dec 6. Nature. 2010. PMID: 19966786 Free PMC article.