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Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK. Rocha N, et al. Among authors: payne f. Elife. 2017 Apr 19;6:e23813. doi: 10.7554/eLife.23813. Elife. 2017. PMID: 28414270 Free PMC article.
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: payne f. Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332. Nat Genet. 2012. PMID: 22729222 Free PMC article.
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
Payne F, Lim K, Girousse A, Brown RJ, Kory N, Robbins A, Xue Y, Sleigh A, Cochran E, Adams C, Dev Borman A, Russel-Jones D, Gorden P, Semple RK, Saudek V, O'Rahilly S, Walther TC, Barroso I, Savage DB. Payne F, et al. Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8901-6. doi: 10.1073/pnas.1408523111. Epub 2014 Jun 2. Proc Natl Acad Sci U S A. 2014. PMID: 24889630 Free PMC article.
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.
Huang-Doran I, Tomlinson P, Payne F, Gast A, Sleigh A, Bottomley W, Harris J, Daly A, Rocha N, Rudge S, Clark J, Kwok A, Romeo S, McCann E, Müksch B, Dattani M, Zucchini S, Wakelam M, Foukas LC, Savage DB, Murphy R, O'Rahilly S, Barroso I, Semple RK. Huang-Doran I, et al. Among authors: payne f. JCI Insight. 2016 Oct 20;1(17):e88766. doi: 10.1172/jci.insight.88766. JCI Insight. 2016. PMID: 27766312 Free PMC article.
Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.
Lotta LA, Gulati P, Day FR, Payne F, Ongen H, van de Bunt M, Gaulton KJ, Eicher JD, Sharp SJ, Luan J, De Lucia Rolfe E, Stewart ID, Wheeler E, Willems SM, Adams C, Yaghootkar H; EPIC-InterAct Consortium; Cambridge FPLD1 Consortium; Forouhi NG, Khaw KT, Johnson AD, Semple RK, Frayling T, Perry JR, Dermitzakis E, McCarthy MI, Barroso I, Wareham NJ, Savage DB, Langenberg C, O'Rahilly S, Scott RA. Lotta LA, et al. Among authors: payne f. Nat Genet. 2017 Jan;49(1):17-26. doi: 10.1038/ng.3714. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841877 Free PMC article.
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.
Leiter SM, Parker VER, Welters A, Knox R, Rocha N, Clark G, Payne F, Lotta L, Harris J, Guerrero-Fernández J, González-Casado I, García-Miñaur S, Gordo G, Wareham N, Martínez-Glez V, Allison M, O'Rahilly S, Barroso I, Meissner T, Davies S, Hussain K, Temple K, Barreda-Bonis AC, Kummer S, Semple RK. Leiter SM, et al. Among authors: payne f. Eur J Endocrinol. 2017 Aug;177(2):175-186. doi: 10.1530/EJE-17-0132. Epub 2017 May 31. Eur J Endocrinol. 2017. PMID: 28566443 Free PMC article.
An activating mutation of AKT2 and human hypoglycemia.
Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK. Hussain K, et al. Among authors: payne f. Science. 2011 Oct 28;334(6055):474. doi: 10.1126/science.1210878. Epub 2011 Oct 6. Science. 2011. PMID: 21979934 Free PMC article.
298 results