AELIP

Asociación AELIP

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Publicaciones

  1. Rocha N, Payne F, Huang-Doran I, Sleigh A, Fawcett K, Adams C, Stears A, Saudek V, O’Rahilly S, Barroso I, Semple RK The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion Sci Reports Sci Rep. 2017 Dec 14;7(1):17593.
  2. Chen J-H, Goh KJ, Rocha N, Groeneveld MP, Minic M, Barrett TG, Savage DB, Semple RK Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model Disease Models and Mechanisms 2017 Dec 19;10(12):1411-1420
  3. Minic M, Rocha N, Harris J, Groeneveld MP, Leiter S, Wareham N, Sleigh A, De Lonlay P, Hussain K, O'Rahilly S, Semple RK. Constitutive activation of AKT2 in humans leads to hypoglycemia without fatty liver or metabolic dyslipidemia. J Clin Endocrinol Metab. 2017 May 23. doi: 10.1210/jc.2017-00768. [Epub ahead of print]
  4. Rocha NM, 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 SI, Maher ER, Richelsen B, Savage DB, Semple RK. Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. Elife. 2017 Apr 17;6. pii: e23813. doi: 10.7554/eLife.23813. [Epub ahead of print]
  5. 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 Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations JCI Insight. 2016 Oct 20;1(17):e88766.
  6. Chen JH, Segni M, Payne F, Huang-Doran I, Sleigh A, Adams C; UK10K Consortium, Savage DB, O'Rahilly S, Semple RK*, Barroso I. Truncation of POC1A associated with short stature and extreme insulin resistance. J Mol Endocrinol. 2015 Oct;55(2):147-58. [*corresponding]
  7. Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley W, Wheeler E, Wong S, Saudek V, Savage DB, O’Rahilly S, Carel J-C, Barroso I, O’Driscoll M, Semple RK Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance J Clin Invest. 2014 Sep;124(9):4028-38
  8. Weedon MN, Ellard S, Prindle MJ, Caswell R, Allen HL, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nature Genetics 2013 Aug;45(8):947-50.
  9. Lindhurst MJ, Parker VER, 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 MJO, Barroso I, Biesecker LG, Semple RK Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA Nature Genetics 2012 Jun 24;44(8):928-33.
  10. Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJL, Savage DB, Ramaswami U, De Lonlay P, O’Rahilly S, Barroso I, Semple RK An Activating Mutation of AKT2 and Human Hypoglycemia Science, 2011 Oct 28;334(6055):474
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