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508 results
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Mutations in ligands and receptors of the leptin-melanocortin pathway that lead to obesity.
Farooqi IS, O'Rahilly S. Farooqi IS, et al. Nat Clin Pract Endocrinol Metab. 2008 Oct;4(10):569-77. doi: 10.1038/ncpendmet0966. Epub 2008 Sep 9. Nat Clin Pract Endocrinol Metab. 2008. PMID: 18779842 Review.
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S. Farooqi IS, et al. N Engl J Med. 2007 Jan 18;356(3):237-47. doi: 10.1056/NEJMoa063988. N Engl J Med. 2007. PMID: 17229951 Free PMC article.
The central melanocortin system directly controls peripheral lipid metabolism.
Nogueiras R, Wiedmer P, Perez-Tilve D, Veyrat-Durebex C, Keogh JM, Sutton GM, Pfluger PT, Castaneda TR, Neschen S, Hofmann SM, Howles PN, Morgan DA, Benoit SC, Szanto I, Schrott B, Schürmann A, Joost HG, Hammond C, Hui DY, Woods SC, Rahmouni K, Butler AA, Farooqi IS, O'Rahilly S, Rohner-Jeanrenaud F, Tschöp MH. Nogueiras R, et al. J Clin Invest. 2007 Nov;117(11):3475-88. doi: 10.1172/JCI31743. J Clin Invest. 2007. PMID: 17885689 Free PMC article.
Melanocortin receptors weigh in.
O'Rahilly S, Yeo GS, Farooqi IS. O'Rahilly S, et al. Nat Med. 2004 Apr;10(4):351-2. doi: 10.1038/nm0404-351. Nat Med. 2004. PMID: 15057231 No abstract available.
Binge eating as a phenotype of melanocortin 4 receptor gene mutations.
Farooqi IS, Yeo GS, O'Rahilly S. Farooqi IS, et al. N Engl J Med. 2003 Aug 7;349(6):606-9; author reply 606-9. N Engl J Med. 2003. PMID: 12908459 No abstract available.
Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.
Donohoue PA, Tao YX, Collins M, Yeo GS, O'Rahilly S, Segaloff DL. Donohoue PA, et al. J Clin Endocrinol Metab. 2003 Dec;88(12):5841-5. doi: 10.1210/jc.2003-030903. J Clin Endocrinol Metab. 2003. PMID: 14671178
Truncation of POC1A associated with short stature and extreme insulin resistance.
Chen JH, Segni M, Payne F, Huang-Doran I, Sleigh A, Adams C; UK10K Consortium, Savage DB, O'Rahilly S, Semple RK, Barroso I. Chen JH, et al. J Mol Endocrinol. 2015 Oct;55(2):147-58. doi: 10.1530/JME-15-0090. J Mol Endocrinol. 2015. PMID: 26336158 Free PMC article.
Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion.
Martinelli CE, Keogh JM, Greenfield JR, Henning E, van der Klaauw AA, Blackwood A, O'Rahilly S, Roelfsema F, Camacho-Hübner C, Pijl H, Farooqi IS. Martinelli CE, et al. J Clin Endocrinol Metab. 2011 Jan;96(1):E181-8. doi: 10.1210/jc.2010-1369. Epub 2010 Nov 3. J Clin Endocrinol Metab. 2011. PMID: 21047921
Loss of agouti-related peptide does not significantly impact the phenotype of murine POMC deficiency.
Corander MP, Rimmington D, Challis BG, O'Rahilly S, Coll AP. Corander MP, et al. Endocrinology. 2011 May;152(5):1819-28. doi: 10.1210/en.2010-1450. Epub 2011 Mar 1. Endocrinology. 2011. PMID: 21363936 Free PMC article.
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S, Garg S, Henning E, Blackburn H, Loos RJ, Wareham NJ, O'Rahilly S, Hurles ME, Barroso I, Farooqi IS. Wheeler E, et al. Nat Genet. 2013 May;45(5):513-7. doi: 10.1038/ng.2607. Epub 2013 Apr 7. Nat Genet. 2013. PMID: 23563609 Free PMC article.
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