☰

Stephen O'Rahilly - Publications

Affiliations: 
Metabolic Research Laboratories University of Cambridge, Cambridge, England, United Kingdom 
Tree Info Similar researchers PubMed Report error

283 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Zhao Y, Chukanova M, Kentistou KA, Fairhurst-Hunter Z, Siegert AM, Jia RY, Dowsett GKC, Gardner EJ, Lawler K, Day FR, Kaisinger LR, Tung YL, Lam BYH, Chen HC, Wang Q, et al. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease. Nature Genetics. PMID 38575728 DOI: 10.1038/s41588-024-01694-x  0.338
2023 Kaisinger LR, Kentistou KA, Stankovic S, Gardner EJ, Day FR, Zhao Y, Mörseburg A, Carnie CJ, Zagnoli-Vieira G, Puddu F, Jackson SP, O'Rahilly S, Farooqi IS, Dearden L, Pantaleão LC, et al. Large-scale exome sequence analysis identifies sex- and age-specific determinants of obesity. Cell Genomics. 3: 100362. PMID 37601970 DOI: 10.1016/j.xgen.2023.100362  0.302
2022 Patel S, Haider A, Alvarez-Guaita A, Bidault G, El-Sayed Moustafa JS, Guiu-Jurado E, Tadross JA, Warner J, Harrison J, Virtue S, Scurria F, Zvetkova I, Blüher M, Small KS, O'Rahilly S, et al. Combined genetic deletion of GDF15 and FGF21 has modest effects on body weight, hepatic steatosis and insulin resistance in high fat fed mice. Molecular Metabolism. 101589. PMID 36064109 DOI: 10.1016/j.molmet.2022.101589  0.315
2022 Hall KD, Farooqi IS, Friedman JM, Klein S, Loos RJF, Mangelsdorf DJ, O'Rahilly S, Ravussin E, Redman LM, Ryan DH, Speakman JR, Tobias DK. The energy balance model of obesity: beyond calories in, calories out. The American Journal of Clinical Nutrition. PMID 35134825 DOI: 10.1093/ajcn/nqac031  0.314
2021 O'Rahilly S. "Treasure Your Exceptions"-Studying Human Extreme Phenotypes to Illuminate Metabolic Health and Disease: The 2019 Banting Medal for Scientific Achievement Lecture. Diabetes. 70: 29-38. PMID 33355307 DOI: 10.2337/dbi19-0037  0.321
2020 Chalmers J, Tung YCL, Liu CH, O'Kane CJ, O'Rahilly S, Yeo GSH. A multi-component screen for feeding behaviour and nutritional status in Drosophila to interrogate mammalian appetite-related genes. Molecular Metabolism. 101127. PMID 33242659 DOI: 10.1016/j.molmet.2020.101127  0.307
2020 Marenne G, Hendricks AE, Perdikari A, Bounds R, Payne F, Keogh JM, Lelliott CJ, Henning E, Pathan S, Ashford S, Bochukova EG, Mistry V, Daly A, Hayward C, et al. Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription. Cell Metabolism. 31: 1107-1119.e12. PMID 32492392 DOI: 10.1016/j.cmet.2020.05.007  0.329
2020 Kwok A, Zvetkova I, Virtue S, Luijten I, Huang-Doran I, Tomlinson P, Bulger DA, West J, Murfitt S, Griffin J, Alam R, Hart D, Knox R, Voshol P, Vidal-Puig A, et al. Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure. Molecular Metabolism. 101020. PMID 32439336 DOI: 10.1016/J.Molmet.2020.101020  0.423
2020 Lawler K, Huang-Doran I, Sonoyama T, Collet TH, Keogh JM, Henning E, O'Rahilly S, Bottolo L, Farooqi IS. Leptin-mediated changes in the human metabolome. The Journal of Clinical Endocrinology and Metabolism. PMID 32392278 DOI: 10.1210/clinem/dgaa251  0.316
2019 Melvin A, Chantzichristos D, Kyle CJ, Mackenzie SD, Walker BR, Johannsson G, Stimson RH, O'Rahilly S. GDF15 is elevated in conditions of glucocorticoid deficiency and is modulated by glucocorticoid replacement. The Journal of Clinical Endocrinology and Metabolism. PMID 31853550 DOI: 10.1210/Clinem/Dgz277  0.305
2019 Yang Y, van der Klaauw AA, Zhu L, Cacciottolo TM, He Y, Stadler LKJ, Wang C, Xu P, Saito K, Hinton A, Yan X, Keogh JM, Henning E, Banton MC, Hendricks AE, et al. Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis. Nature Communications. 10: 1718. PMID 30979869 DOI: 10.1038/S41467-019-08737-6  0.301
2019 Riveros-McKay F, Mistry V, Bounds R, Hendricks A, Keogh JM, Thomas H, Henning E, Corbin LJ, O'Rahilly S, Zeggini E, Wheeler E, Barroso I, Farooqi IS. Genetic architecture of human thinness compared to severe obesity. Plos Genetics. 15: e1007603. PMID 30677029 DOI: 10.1371/journal.pgen.1007603  0.312
2019 Patel S, Alvarez-Guaita A, Melvin A, Rimmington D, Dattilo A, Miedzybrodzka EL, Cimino I, Maurin AC, Roberts GP, Meek CL, Virtue S, Sparks LM, Parsons SA, Redman LM, Bray GA, et al. GDF15 Provides an Endocrine Signal of Nutritional Stress in Mice and Humans. Cell Metabolism. PMID 30639358 DOI: 10.1016/J.Cmet.2018.12.016  0.336
2018 Kirwan P, Kay RG, Brouwers B, Herranz-Pérez V, Jura M, Larraufie P, Jerber J, Pembroke J, Bartels T, White A, Gribble FM, Reimann F, Farooqi IS, O'Rahilly S, Merkle FT. Quantitative mass spectrometry for human melanocortin peptides in vitro and in vivo suggests prominent roles for β-MSH and desacetyl α-MSH in energy homeostasis. Molecular Metabolism. PMID 30201275 DOI: 10.1016/J.Molmet.2018.08.006  0.316
2018 Polex-Wolf J, Lam BY, Larder R, Tadross J, Rimmington D, Bosch F, Cenzano VJ, Ayuso E, Ma MK, Rainbow K, Coll AP, O'Rahilly S, Yeo GS. Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome. The Journal of Clinical Investigation. PMID 29376887 DOI: 10.1172/Jci97007  0.745
2018 Depaoli A, Long A, Fine GM, Stewart M, O'rahilly S. Efficacy of Metreleptin for Weight Loss in Overweight and Obese Adults with Low Leptin Levels Diabetes. 67. DOI: 10.2337/Db18-296-Lb  0.326
2017 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. Scientific Reports. 7: 17593. PMID 29242557 DOI: 10.1038/s41598-017-17746-8  0.328
2017 Moir L, Bochukova EG, Dumbell R, Banks G, Bains RS, Nolan PM, Scudamore C, Simon M, Watson KA, Keogh J, Henning E, Hendricks A, O'Rahilly S, Barroso I, et al. Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety. Molecular Metabolism. 6: 1419-1428. PMID 29107289 DOI: 10.1016/J.Molmet.2017.08.006  0.422
2017 Collet TH, Dubern B, Mokrosinski J, Connors H, Keogh JM, Mendes de Oliveira E, Henning E, Poitou-Bernert C, Oppert JM, Tounian P, Marchelli F, Alili R, Le Beyec J, Pépin D, Lacorte JM, et al. Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency. Molecular Metabolism. 6: 1321-1329. PMID 29031731 DOI: 10.1016/J.Molmet.2017.06.015  0.442
2017 Larder R, Sim MFM, Gulati P, Antrobus R, Tung YCL, Rimmington D, Ayuso E, Polex-Wolf J, Lam BYH, Dias C, Logan DW, Virtue S, Bosch F, Yeo GSH, Saudek V, et al. Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation. Proceedings of the National Academy of Sciences of the United States of America. PMID 28811369 DOI: 10.1073/Pnas.1707310114  0.329
2017 Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, et al. Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. Scientific Reports. 7: 4394. PMID 28663568 DOI: 10.1038/S41598-017-03054-8  0.336
2017 Leiter SM, Parker VE, Welters A, Knox R, Rocha N, Clark GR, Payne F, Lotta L, Harris J, Guerrero-Fernández J, González-Casado I, García-Miñaur S, Gordo G, Wareham NJ, Martínez-Glez V, et al. Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-Kinase. European Journal of Endocrinology. PMID 28566443 DOI: 10.1530/Eje-17-0132  0.358
2017 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. The Journal of Clinical Endocrinology and Metabolism. PMID 28541532 DOI: 10.1210/Jc.2017-00768  0.33
2016 Polex-Wolf J, Yeo GS, O'Rahilly S. Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome? The Journal of Clinical Investigation. PMID 27941250 DOI: 10.1172/Jci91307  0.584
2016 O'Rahilly S. Harveian Oration 2016: Some observations on the causes and consequences of obesity. Clinical Medicine. 16: 551-564. PMID 27927821 DOI: 10.7861/Clinmedicine.16-6-551  0.305
2016 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, et al. Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance. Nature Genetics. PMID 27841877 DOI: 10.1038/Ng.3714  0.399
2016 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, et al. Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations. Jci Insight. 1: e88766. PMID 27766312 DOI: 10.1172/jci.insight.88766  0.304
2016 Stijnen P, Ramos-Molina B, O'Rahilly S, Creemers JW. PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders. Endocrine Reviews. 37: 347-71. PMID 27187081 DOI: 10.1210/Er.2015-1117  0.465
2016 Raffan E, Dennis RJ, O'Donovan CJ, Becker JM, Scott RA, Smith SP, Withers DJ, Wood CJ, Conci E, Clements DN, Summers KM, German AJ, Mellersh CS, Arendt ML, Iyemere VP, et al. A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs. Cell Metabolism. PMID 27157046 DOI: 10.1016/J.Cmet.2016.04.012  0.608
2016 Novoselova TV, Larder R, Rimmington D, Lelliott C, Wynn E, Gorrigan RJ, Tate P, Guasti L, The Sanger MG, O'Rahilly S, Clark AJ, Logan DW, Coll AP, Chan LF. Loss of Mrap2 is associated with Sim 1 deficiency and increased circulating cholesterol. The Journal of Endocrinology. PMID 27106110 DOI: 10.1530/Joe-16-0057  0.429
2016 Dalgaard K, Landgraf K, Heyne S, Lempradl A, Longinotto J, Gossens K, Ruf M, Orthofer M, Strogantsev R, Selvaraj M, Lu TT, Casas E, Teperino R, Surani MA, Zvetkova I, et al. Trim28 Haploinsufficiency Triggers Bi-stable Epigenetic Obesity. Cell. 164: 353-364. PMID 26824653 DOI: 10.1016/J.Cell.2015.12.025  0.752
2016 O'Rahilly S, Coll AP, Yeo GS. FTO Obesity Variant and Adipocyte Browning in Humans. The New England Journal of Medicine. 374: 191. PMID 26760098 DOI: 10.1056/Nejmc1513316#Sa2  0.663
2015 Raffan E, Smith SP, O'Rahilly S, Wardle J. Development, factor structure and application of the Dog Obesity Risk and Appetite (DORA) questionnaire. Peerj. 3: e1278. PMID 26468435 DOI: 10.7717/Peerj.1278  0.362
2015 Chen JH, Segni M, Payne F, Huang-Doran I, Sleigh A, Adams C, Savage DB, O'Rahilly S, Semple RK, Barroso I. Truncation of POC1A associated with short stature and extreme insulin resistance. Journal of Molecular Endocrinology. 55: 147-58. PMID 26336158 DOI: 10.1530/Jme-15-0090  0.391
2015 Tung YC, Gulati P, Liu CH, Rimmington D, Dennis R, Ma M, Saudek V, O'Rahilly S, Coll AP, Yeo GS. FTO is necessary for the induction of leptin resistance by high-fat feeding. Molecular Metabolism. 4: 287-98. PMID 25830092 DOI: 10.1016/J.Molmet.2015.01.011  0.651
2015 Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert MF, Raghavan S, Lipovich L, Hidalgo B, Fox K, Huffman JE, An P, Lu Y, et al. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nature Communications. 6: 5897. PMID 25631608 DOI: 10.1038/Ncomms6897  0.305
2015 Kozusko K, Tsang VH, Bottomley W, Cho YH, Gandotra S, Mimmack M, Lim K, Isaac I, Patel S, Saudek V, O'Rahilly S, Srinivasan S, Greenfield JR, Barroso I, Campbell LV, et al. Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. Diabetes. 64: 299-310. PMID 25114292 DOI: 10.2337/db14-0104  0.646
2014 Simonds SE, Pryor JT, Ravussin E, Greenway FL, Dileone R, Allen AM, Bassi J, Elmquist JK, Keogh JM, Henning E, Myers MG, Licinio J, Brown RD, Enriori PJ, O'Rahilly S, et al. Leptin mediates the increase in blood pressure associated with obesity. Cell. 159: 1404-16. PMID 25480301 DOI: 10.1016/J.Cell.2014.10.058  0.419
2014 Tung YC, Yeo GS, O'Rahilly S, Coll AP. Obesity and FTO: Changing Focus at a Complex Locus. Cell Metabolism. 20: 710-8. PMID 25448700 DOI: 10.1016/J.Cmet.2014.09.010  0.644
2014 Gulati P, Avezov E, Ma M, Antrobus R, Lehner P, O'Rahilly S, Yeo GS. Fat mass and obesity-related (FTO) shuttles between the nucleus and cytoplasm. Bioscience Reports. 34. PMID 25242086 DOI: 10.1042/Bsr20140111  0.59
2014 Farooqi IS, O'Rahilly S. 20 years of leptin: human disorders of leptin action. The Journal of Endocrinology. 223: T63-70. PMID 25232148 DOI: 10.1530/Joe-14-0480  0.456
2014 O'Rahilly S. 20 YEARS OF LEPTIN: What we know and what the future holds Journal of Endocrinology. 223. PMID 25143632 DOI: 10.1530/Joe-14-0506  0.389
2014 van der Klaauw AA, von dem Hagen EA, Keogh JM, Henning E, O'Rahilly S, Lawrence AD, Calder AJ, Farooqi IS. Obesity-associated melanocortin-4 receptor mutations are associated with changes in the brain response to food cues. The Journal of Clinical Endocrinology and Metabolism. 99: E2101-6. PMID 25062455 DOI: 10.1210/Jc.2014-1651  0.436
2014 Pearce LR, Joe R, Doche ME, Su HW, Keogh JM, Henning E, Argetsinger LS, Bochukova EG, Cline JM, Garg S, Saeed S, Shoelson S, O'Rahilly S, Barroso I, Rui L, et al. Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1. Endocrinology. 155: 3219-26. PMID 24971614 DOI: 10.1210/En.2014-1264  0.437
2014 Raffan E, Becker J, Yeo G, O'Rahilly S. The coding sequence of POMC and obesity and appetite in Labrador retriever dogs The Lancet. 383: S86. DOI: 10.1016/S0140-6736(14)60349-4  0.659
2013 Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, et al. KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation. Cell. 155: 765-77. PMID 24209692 DOI: 10.1016/J.Cell.2013.09.058  0.467
2013 Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, RidderstrÃ¥le M, Marcus C, et al. Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. Science (New York, N.Y.). 341: 275-8. PMID 23869016 DOI: 10.1126/Science.1233000  0.345
2013 Frank GR, Fox J, Candela N, Jovanovic Z, Bochukova E, Levine J, Papenhausen PR, O'Rahilly S, Farooqi IS. Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency. Molecular Genetics and Metabolism. 110: 191-4. PMID 23800642 DOI: 10.1016/J.Ymgme.2013.04.005  0.43
2013 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, et al. Rare variants in single-minded 1 (SIM1) are associated with severe obesity. The Journal of Clinical Investigation. 123: 3042-50. PMID 23778139 DOI: 10.1172/JCI68016  0.354
2013 Lowe CE, Zhang Q, Dennis RJ, Aubry EM, O'Rahilly S, Wakelam MJ, Rochford JJ. Knockdown of diacylglycerol kinase delta inhibits adipocyte differentiation and alters lipid synthesis. Obesity (Silver Spring, Md.). 21: 1823-9. PMID 23703849 DOI: 10.1002/Oby.20297  0.324
2013 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. Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Nature Genetics. 45: 513-7. PMID 23563609 DOI: 10.1038/Ng.2607  0.406
2013 Gulati P, Cheung MK, Antrobus R, Church CD, Harding HP, Tung YC, Rimmington D, Ma M, Ron D, Lehner PJ, Ashcroft FM, Cox RD, Coll AP, O'Rahilly S, Yeo GS. Role for the obesity-related FTO gene in the cellular sensing of amino acids. Proceedings of the National Academy of Sciences of the United States of America. 110: 2557-62. PMID 23359686 DOI: 10.1073/Pnas.1222796110  0.645
2013 McMurray F, Church CD, Larder R, Nicholson G, Wells S, Teboul L, Tung YC, Rimmington D, Bosch F, Jimenez V, Yeo GS, O'Rahilly S, Ashcroft FM, Coll AP, Cox RD. Adult onset global loss of the fto gene alters body composition and metabolism in the mouse. Plos Genetics. 9: e1003166. PMID 23300482 DOI: 10.1371/Journal.Pgen.1003166  0.622
2013 Ziauddeen H, Chamberlain SR, Nathan PJ, Koch A, Maltby K, Bush M, Tao WX, Napolitano A, Skeggs AL, Brooke AC, Cheke L, Clayton NS, Sadaf Farooqi I, O'Rahilly S, Waterworth D, et al. Effects of the mu-opioid receptor antagonist GSK1521498 on hedonic and consummatory eating behaviour: a proof of mechanism study in binge-eating obese subjects. Molecular Psychiatry. 18: 1287-93. PMID 23147384 DOI: 10.1038/Mp.2012.154  0.325
2013 Rutter MK, Sattar N, Tajar A, O'Neill TW, Lee DM, Bartfai G, Boonen S, Casanueva FF, Finn JD, Forti G, Giwercman A, Han TS, Huhtaniemi IT, Kula K, Lean ME, et al. Epidemiological evidence against a role for C-reactive protein causing leptin resistance. European Journal of Endocrinology / European Federation of Endocrine Societies. 168: 101-6. PMID 23047304 DOI: 10.1530/Eje-12-0348  0.314
2013 Cheung MK, Gulati P, O'Rahilly S, Yeo GS. FTO expression is regulated by availability of essential amino acids. International Journal of Obesity (2005). 37: 744-7. PMID 22614055 DOI: 10.1038/Ijo.2012.77  0.626
2012 Sim MF, Dennis RJ, Aubry EM, Ramanathan N, Sembongi H, Saudek V, Ito D, O'Rahilly S, Siniossoglou S, Rochford JJ. The human lipodystrophy protein seipin is an ER membrane adaptor for the adipogenic PA phosphatase lipin 1. Molecular Metabolism. 2: 38-46. PMID 24024128 DOI: 10.1016/J.Molmet.2012.11.002  0.345
2012 Yeo GS, O'Rahilly S. Uncovering the biology of FTO. Molecular Metabolism. 1: 32-6. PMID 24024116 DOI: 10.1016/J.Molmet.2012.06.001  0.655
2012 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, et al. Human SH2B1 mutations are associated with maladaptive behaviors and obesity. The Journal of Clinical Investigation. 122: 4732-6. PMID 23160192 DOI: 10.1172/JCI62696  0.494
2012 Fraterrigo G, Fabbrini E, Mittendorfer B, O'Rahilly S, Scherer PE, Patterson BW, Klein S. Relationship between Changes in Plasma Adiponectin Concentration and Insulin Sensitivity after Niacin Therapy. Cardiorenal Medicine. 2: 211-217. PMID 22969777 DOI: 10.1159/000340037  0.416
2012 Speakman JR, O'Rahilly S. Fat: an evolving issue. Disease Models & Mechanisms. 5: 569-73. PMID 22915015 DOI: 10.1242/dmm.010553  0.317
2012 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, et al. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nature Genetics. 44: 928-33. PMID 22729222 DOI: 10.1038/Ng.2332  0.302
2012 Larder R, O'Rahilly S. Shedding pounds after going under the knife: guts over glory-why diets fail. Nature Medicine. 18: 666-7. PMID 22561823 DOI: 10.1038/Nm.2747  0.37
2012 Bradfield JP, Taal HR, Timpson NJ, Scherag A, Lecoeur C, Warrington NM, Hypponen E, Holst C, Valcarcel B, Thiering E, Salem RM, Schumacher FR, Cousminer DL, Sleiman PM, Zhao J, et al. A genome-wide association meta-analysis identifies new childhood obesity loci. Nature Genetics. 44: 526-31. PMID 22484627 DOI: 10.1038/Ng.2247  0.39
2012 Ma M, Harding HP, O'Rahilly S, Ron D, Yeo GS. Kinetic analysis of FTO (fat mass and obesity-associated) reveals that it is unlikely to function as a sensor for 2-oxoglutarate. The Biochemical Journal. 444: 183-7. PMID 22435707 DOI: 10.1042/Bj20120065  0.624
2011 Raffan E, Hurst LA, Turki SA, Carpenter G, Scott C, Daly A, Coffey A, Bhaskar S, Howard E, Khan N, Kingston H, Palotie A, Savage DB, O'Driscoll M, Smith C, et al. Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient. Frontiers in Endocrinology. 2: 8. PMID 22654791 DOI: 10.3389/Fendo.2011.00008  0.308
2011 Speakman JR, Levitsky DA, Allison DB, Bray MS, de Castro JM, Clegg DJ, Clapham JC, Dulloo AG, Gruer L, Haw S, Hebebrand J, Hetherington MM, Higgs S, Jebb SA, Loos RJ, et al. Set points, settling points and some alternative models: theoretical options to understand how genes and environments combine to regulate body adiposity. Disease Models & Mechanisms. 4: 733-45. PMID 22065844 DOI: 10.1242/Dmm.008698  0.355
2011 Gandotra S, Lim K, Girousse A, Saudek V, O'Rahilly S, Savage DB. Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5). The Journal of Biological Chemistry. 286: 34998-5006. PMID 21757733 DOI: 10.1074/Jbc.M111.278853  0.661
2011 Kilpeläinen TO, Zillikens MC, Stančákova A, Finucane FM, Ried JS, Langenberg C, Zhang W, Beckmann JS, Luan J, Vandenput L, Styrkarsdottir U, Zhou Y, Smith AV, Zhao JH, Amin N, et al. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nature Genetics. 43: 753-60. PMID 21706003 DOI: 10.1038/Ng.866  0.398
2011 Sleigh A, Raymond-Barker P, Thackray K, Porter D, Hatunic M, Vottero A, Burren C, Mitchell C, McIntyre M, Brage S, Carpenter TA, Murgatroyd PR, Brindle KM, Kemp GJ, O'Rahilly S, et al. Mitochondrial dysfunction in patients with primary congenital insulin resistance. The Journal of Clinical Investigation. 121: 2457-61. PMID 21555852 DOI: 10.1172/Jci46405  0.341
2011 Semple RK, Savage DB, Cochran EK, Gorden P, O'Rahilly S. Genetic syndromes of severe insulin resistance. Endocrine Reviews. 32: 498-514. PMID 21536711 DOI: 10.1210/Er.2010-0020  0.38
2011 Gandotra S, Le Dour C, Bottomley W, Cervera P, Giral P, Reznik Y, Charpentier G, Auclair M, Delépine M, Barroso I, Semple RK, Lathrop M, Lascols O, Capeau J, O'Rahilly S, et al. Perilipin deficiency and autosomal dominant partial lipodystrophy. The New England Journal of Medicine. 364: 740-8. PMID 21345103 DOI: 10.1056/Nejmoa1007487  0.679
2011 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. 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 Journal of Clinical Endocrinology and Metabolism. 96: E181-E188. PMID 21047921 DOI: 10.1210/Jc.2010-1369  0.414
2011 O'Rahilly S. Human obesity and insulin resistance: Lessons from human genetics Clinical Biochemistry. 44: 451. DOI: 10.1016/J.Clinbiochem.2011.03.130  0.424
2010 Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Lango Allen H, Lindgren CM, Luan J, Mägi R, Randall JC, Vedantam S, Winkler TW, Qi L, Workalemahu T, et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nature Genetics. 42: 937-48. PMID 20935630 DOI: 10.1038/Ng.686  0.41
2010 Huang-Doran I, Sleigh A, Rochford JJ, O'Rahilly S, Savage DB. Lipodystrophy: metabolic insights from a rare disorder. The Journal of Endocrinology. 207: 245-55. PMID 20870709 DOI: 10.1677/Joe-10-0272  0.427
2010 Jovanovic Z, Tung YC, Lam BY, O'Rahilly S, Yeo GS. Identification of the global transcriptomic response of the hypothalamic arcuate nucleus to fasting and leptin. Journal of Neuroendocrinology. 22: 915-25. PMID 20553370 DOI: 10.1111/J.1365-2826.2010.02026.X  0.724
2010 Regan FM, Williams RM, McDonald A, Umpleby AM, Acerini CL, O'Rahilly S, Hovorka R, Semple RK, Dunger DB. Treatment with Recombinant Human Insulin-Like Growth Factor (rhIGF)-I/rhIGF Binding Protein-3 Complex Improves Metabolic Control in Subjects with Severe Insulin Resistance The Journal of Clinical Endocrinology and Metabolism. 95: 2113-2122. PMID 20233784 DOI: 10.1210/Jc.2009-2088  0.367
2010 Boiani R, Cinti S, Savage DB, Vidal-Puig A, O'Rahilly S. Abdominal subcutaneous adipose tissue morphology in a patient with a dominant-negative mutation (P467L) in the nuclear receptor peroxisome proliferator-activated receptor-gamma (PPARG) gene Nutrition Metabolism and Cardiovascular Diseases. 20. PMID 20153617 DOI: 10.1016/J.Numecd.2009.10.018  0.341
2010 Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, et al. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature. 463: 671-5. PMID 20130649 DOI: 10.1038/Nature08727  0.317
2010 Tung YC, Ayuso E, Shan X, Bosch F, O'Rahilly S, Coll AP, Yeo GS. Hypothalamic-specific manipulation of Fto, the ortholog of the human obesity gene FTO, affects food intake in rats. Plos One. 5: e8771. PMID 20098739 DOI: 10.1371/Journal.Pone.0008771  0.631
2010 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. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature. 463: 666-70. PMID 19966786 DOI: 10.1038/nature08689  0.324
2010 Romeo S, Sentinelli F, Dash S, Yeo GS, Savage DB, Leonetti F, Capoccia D, Incani M, Maglio C, Iacovino M, O'Rahilly S, Baroni MG. Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indices of hepatic injury in individuals of European descent. International Journal of Obesity (2005). 34: 190-4. PMID 19844213 DOI: 10.1038/Ijo.2009.216  0.624
2010 Meyre D, Proulx K, Kawagoe-Takaki H, Vatin V, Gutiérrez-Aguilar R, Lyon D, Ma M, Choquet H, Horber F, Van Hul W, Van Gaal L, Balkau B, Visvikis-Siest S, Pattou F, Farooqi IS, et al. Prevalence of loss-of-function FTO mutations in lean and obese individuals. Diabetes. 59: 311-8. PMID 19833892 DOI: 10.2337/Db09-0703  0.686
2010 Siddle K, Luzio JP, O'Rahilly S. Charles Nicholas Hales. 25 April 1935 — 15 September 2005 Biographical Memoirs of Fellows of the Royal Society. 56: 105-130. DOI: 10.1098/Rsbm.2009.0019  0.319
2009 Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple RK, Dash S, Hyden CS, Bottomley W, Vigouroux C, Magré J, Raymond-Barker P, Murgatroyd PR, Chawla A, Skepper JN, Chatterjee VK, et al. Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. Embo Molecular Medicine. 1: 280-7. PMID 20049731 DOI: 10.1002/Emmm.200900037  0.435
2009 Figueroa KP, Farooqi S, Harrup K, Frank J, O'Rahilly S, Pulst SM. Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity. Plos One. 4: e8280. PMID 20016785 DOI: 10.1371/Journal.Pone.0008280  0.435
2009 O'Rahilly S. Human genetics illuminates the paths to metabolic disease Nature. 462: 307-314. PMID 19924209 DOI: 10.1038/Nature08532  0.333
2009 Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble FM, Kotan LD, Akcay T, Atay Z, Canan H, Serin A, O'Rahilly S, Reimann F, Semple RK, et al. Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor. The Journal of Clinical Endocrinology and Metabolism. 94: 3633-9. PMID 19755480 DOI: 10.1210/Jc.2009-0551  0.344
2009 Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo GS, Meyre D, Golzio C, Molinari F, Kadhom N, Etchevers HC, Saudek V, Farooqi IS, Froguel P, Lindahl T, et al. Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. American Journal of Human Genetics. 85: 106-11. PMID 19559399 DOI: 10.1016/J.Ajhg.2009.06.002  0.651
2009 de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, et al. A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Human Molecular Genetics. 18: 3257-65. PMID 19498035 DOI: 10.1093/Hmg/Ddp263  0.66
2009 Dash S, Sano H, Rochford JJ, Semple RK, Yeo G, Hyden CS, Soos MA, Clark J, Rodin A, Langenberg C, Druet C, Fawcett KA, Tung YC, Wareham NJ, Barroso I, et al. A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia. Proceedings of the National Academy of Sciences of the United States of America. 106: 9350-5. PMID 19470471 DOI: 10.1073/Pnas.0900909106  0.642
2009 Farooqi IS, O'Rahilly S. Leptin: a pivotal regulator of human energy homeostasis. The American Journal of Clinical Nutrition. 89. PMID 19211814 DOI: 10.3945/Ajcn.2008.26788C  0.422
2009 Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics. 41: 25-34. PMID 19079261 DOI: 10.1038/Ng.287  0.409
2009 Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK. TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. Nature Genetics. 41: 354-8. PMID 19079066 DOI: 10.1038/Ng.306  0.332
2009 Tan K, Pogozheva ID, Yeo GS, Hadaschik D, Keogh JM, Haskell-Leuvano C, O'Rahilly S, Mosberg HI, Farooqi IS. Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. Endocrinology. 150: 114-25. PMID 18801902 DOI: 10.1210/En.2008-0721  0.661
2009 Humphreys PJ, Dib K, Kumar S, Harvey T, O'Rahilly S. P-109: Impaired activation of phosphatidyl-inositol-3-kinase by insulin in cultured dermal fibroblasts from patients with severe insulin resistance and pseudo-acromegaly Experimental and Clinical Endocrinology & Diabetes. 104: 170-171. DOI: 10.1055/S-0029-1211653  0.32
2009 Kalloo-Hosein HE, Whitehead J, Tavaré J, Siddle K, O'Rahilly S. P-32: TrkC/insulin receptor and TrkC/IGF-1 receptor chimaeras: Tools for the examination of differential signalling to mitogenic and metabolic events by the intracellular domains of the insulin and IGF-1 receptors Experimental and Clinical Endocrinology & Diabetes. 104: 94-96. DOI: 10.1055/S-0029-1211575  0.334
2009 Whitehead J, Humphries P, Krook A, O'Rahilly S. O-52: A naturally occurring mutation in IRS-1 responsible for severe insulin resistance in a human patient? Experimental and Clinical Endocrinology & Diabetes. 104: 64-65. DOI: 10.1055/S-0029-1211543  0.345
2009 Krook A, Ouwens DM, Moller DE, Maassen JA, O'Rahilly S. O-10: Mutant insulin receptors Arg1174Gln and Pro1178Leu — naturally occurring insulin receptor mutations as tools in the dissection of insulin signal transduction pathways Experimental and Clinical Endocrinology & Diabetes. 104: 17-18. DOI: 10.1055/S-0029-1211501  0.361
2008 O'Rahilly S, Farooqi IS. Human obesity as a heritable disorder of the central control of energy balance. International Journal of Obesity. 32. PMID 19136992 DOI: 10.1038/Ijo.2008.239  0.403
2008 Tung YCL, Ma M, Piper S, Coll A, O'Rahilly S, Yeo GSH. Novel leptin-regulated genes revealed by transcriptional profiling of the hypothalamic paraventricular nucleus Journal of Neuroscience. 28: 12419-12426. PMID 19020034 DOI: 10.1523/Jneurosci.3412-08.2008  0.372
2008 Coll AP, Yeo GS, Farooqi IS, O'Rahilly S. SnapShot: the hormonal control of food intake. Cell. 135: 572.e1-2. PMID 18984167 DOI: 10.1016/J.Cell.2008.10.014  0.581
2008 O'Rahilly S, Weir GC, Matthews DR. An appreciation of robert turner Diabetes. 57: 2918-2921. PMID 18971441 DOI: 10.2337/Db07-1644  0.318
2008 O'Rahilly S, Farooqi IS. Human Obesity: A Heritable Neurobehavioral Disorder That Is Highly Sensitive to Environmental Conditions Diabetes. 57: 2905-2910. PMID 18971438 DOI: 10.2337/Db08-0210  0.438
2008 Farooqi IS, O'Rahilly S. Mutations in ligands and receptors of the leptin-melanocortin pathway that lead to obesity. Nature Clinical Practice Endocrinology & Metabolism. 4: 569-577. PMID 18779842 DOI: 10.1038/Ncpendmet0966  0.463
2008 Gambineri A, Semple RK, Forlani G, Genghini S, Grassi I, Hyden CSS, Pagotto U, O'Rahilly S, Pasquali R. Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin. European Journal of Endocrinology. 159: 347-353. PMID 18728124 DOI: 10.1530/Eje-08-0272  0.39
2008 Tan GD, Savage DB, Fielding BA, Collins J, Hodson L, Humphreys SM, O'Rahilly S, Chatterjee K, Frayn KN, Karpe F. Fatty acid metabolism in patients with PPARgamma mutations. The Journal of Clinical Endocrinology and Metabolism. 93: 4462-70. PMID 18713822 DOI: 10.1210/Jc.2007-2356  0.352
2008 Kimber W, Peelman F, Prieur X, Wangensteen T, O'Rahilly S, Tavernier J, Farooqi IS. Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor. Endocrinology. 149: 6043-52. PMID 18703626 DOI: 10.1210/En.2008-0544  0.37
2008 Creemers JW, Lee YS, Oliver RL, Bahceci M, Tuzcu A, Gokalp D, Keogh J, Herber S, White A, O'Rahilly S, Farooqi IS. Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway. The Journal of Clinical Endocrinology and Metabolism. 93: 4494-9. PMID 18697863 DOI: 10.1210/Jc.2008-0954  0.442
2008 Prieur X, Tung YCL, Griffin JL, Farooqi IS, O'Rahilly S, Coll AP. Leptin Regulates Peripheral Lipid Metabolism Primarily through Central Effects on Food Intake Endocrinology. 149: 5432-5439. PMID 18635658 DOI: 10.1210/En.2008-0498  0.332
2008 Fawcett KA, Grimsey N, Loos RJ, Wheeler E, Daly A, Soos M, Semple R, Syddall H, Cooper C, Siniossoglou S, O'Rahilly S, Wareham NJ, Barroso I. Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations. Diabetes. 57: 2527-33. PMID 18591397 DOI: 10.2337/Db08-0422  0.412
2008 Wardle J, Carnell S, Haworth CM, Farooqi IS, O'Rahilly S, Plomin R. Obesity associated genetic variation in FTO is associated with diminished satiety. The Journal of Clinical Endocrinology and Metabolism. 93: 3640-3. PMID 18583465 DOI: 10.1210/Jc.2008-0472  0.411
2008 Stutzmann F, Tan K, Vatin V, Dina C, Jouret B, Tichet J, Balkau B, Potoczna N, Horber F, O'Rahilly S, Farooqi IS, Froguel P, Meyre D. Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. Diabetes. 57: 2511-8. PMID 18559663 DOI: 10.2337/Db08-0153  0.432
2008 Payne VA, Grimsey N, Tuthill A, Virtue S, Gray SL, Dalla Nora E, Semple RK, O'Rahilly S, Rochford JJ. The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. Diabetes. 57: 2055-60. PMID 18458148 DOI: 10.2337/Db08-0184  0.382
2008 Semple RK, Cochran EK, Soos MA, Burling KA, Savage DB, Gorden P, O'Rahilly S. Plasma Adiponectin as a Marker of Insulin Receptor Dysfunction: Clinical utility in severe insulin resistance Diabetes Care. 31: 977-979. PMID 18299442 DOI: 10.2337/Dc07-2194  0.346
2008 O'Rahilly S. Human obesity and insulin resistance: lessons from experiments of nature. Novartis Foundation Symposium. 286: 13-20; discussion 20. PMID 18269171  0.328
2008 Savage DB, Zhai L, Ravikumar B, Choi CS, Snaar JE, McGuire AC, Wou SE, Medina-Gomez G, Kim S, Bock CB, Segvich DM, Solanky B, Deelchand D, Vidal-Puig A, Wareham NJ, et al. A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice. Plos Medicine. 5: e27. PMID 18232732 DOI: 10.1371/Journal.Pmed.0050027  0.309
2008 Lam DD, Przydzial MJ, Ridley SH, Yeo GS, Rochford JJ, O'Rahilly S, Heisler LK. Serotonin 5-HT2C receptor agonist promotes hypophagia via downstream activation of melanocortin 4 receptors. Endocrinology. 149: 1323-8. PMID 18039773 DOI: 10.1210/En.2007-1321  0.571
2008 Risérus U, Sprecher D, Johnson T, Olson E, Hirschberg S, Liu A, Fang Z, Hegde P, Richards D, Sarov-Blat L, Strum JC, Basu S, Cheeseman J, Fielding BA, Humphreys SM, et al. Activation of peroxisome proliferator-activated receptor (PPAR)delta promotes reversal of multiple metabolic abnormalities, reduces oxidative stress, and increases fatty acid oxidation in moderately obese men. Diabetes. 57: 332-9. PMID 18024853 DOI: 10.2337/Db07-1318  0.344
2007 Gerken T, Girard CA, Tung YC, Webby CJ, Saudek V, Hewitson KS, Yeo GS, McDonough MA, Cunliffe S, McNeill LA, Galvanovskis J, Rorsman P, Robins P, Prieur X, Coll AP, et al. The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase. Science (New York, N.Y.). 318: 1469-72. PMID 17991826 DOI: 10.1126/Science.1151710  0.644
2007 Savage DB, Semple RK, Chatterjee VK, Wales JK, Ross RJ, O'Rahilly S. A clinical approach to severe insulin resistance. Endocrine Development. 11: 122-32. PMID 17986832 DOI: 10.1159/000111067  0.359
2007 Farooqi IS, Bullmore E, Keogh J, Gillard J, O'Rahilly S, Fletcher PC. Leptin regulates striatal regions and human eating behavior. Science (New York, N.Y.). 317: 1355. PMID 17690262 DOI: 10.1126/Science.1144599  0.31
2007 López M, Lage R, Tung YCL, Challis BG, Varela L, Virtue S, O'Rahilly S, Vidal-Puig A, Diéguez C, Coll AP. Orexin expression is regulated by alpha-melanocyte stimulating hormone Journal of Neuroendocrinology. 19: 703-707. PMID 17680885 DOI: 10.1111/J.1365-2826.2007.01577.X  0.303
2007 Heisler LK, Pronchuk N, Nonogaki K, Zhou L, Raber J, Tung L, Yeo GS, O'Rahilly S, Colmers WF, Elmquist JK, Tecott LH. Serotonin activates the hypothalamic-pituitary-adrenal axis via serotonin 2C receptor stimulation. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 27: 6956-64. PMID 17596444 DOI: 10.1523/Jneurosci.2584-06.2007  0.549
2007 Farooqi IS, Volders K, Stanhope R, Heuschkel R, White A, Lank E, Keogh J, O'Rahilly S, Creemers JW. Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. The Journal of Clinical Endocrinology and Metabolism. 92: 3369-73. PMID 17595246 DOI: 10.1210/JC.2007-0687  0.323
2007 Michailidou Z, Coll AP, Kenyon CJ, Morton NM, O'Rahilly S, Seckl JR, Chapman KE. Peripheral mechanisms contributing to the glucocorticoid hypersensitivity in proopiomelanocortin null mice treated with corticosterone. The Journal of Endocrinology. 194: 161-70. PMID 17592030 DOI: 10.1677/Joe-07-0090  0.369
2007 Payne VA, Au WS, Gray SL, Nora ED, Rahman SM, Sanders R, Hadaschik D, Friedman JE, O'rahilly S, Rochford JJ. Sequential regulation of diacylglycerol acyltransferase 2 expression by CAAT/enhancer-binding protein beta (C/EBPbeta) and C/EBPalpha during adipogenesis. The Journal of Biological Chemistry. 282: 21005-14. PMID 17504763 DOI: 10.1074/Jbc.M702871200  0.304
2007 Loos RJ, Franks PW, Francis RW, Barroso I, Gribble FM, Savage DB, Ong KK, O'Rahilly S, Wareham NJ. TCF7L2 polymorphisms modulate proinsulin levels and beta-cell function in a British Europid population. Diabetes. 56: 1943-7. PMID 17416797 DOI: 10.2337/Db07-0055  0.335
2007 Young EH, Wareham NJ, Farooqi S, Hinney A, Hebebrand J, Scherag A, O'rahilly S, Barroso I, Sandhu MS. The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals. International Journal of Obesity (2005). 31: 1437-41. PMID 17356525 DOI: 10.1038/sj.ijo.0803609  0.313
2007 Semple RK, Halberg NH, Burling K, Soos MA, Schraw T, Luan J, Cochran EK, Dunger DB, Wareham NJ, Scherer PE, Gorden P, O'Rahilly S. Paradoxical elevation of high-molecular weight adiponectin in acquired extreme insulin resistance due to insulin receptor antibodies. Diabetes. 56: 1712-7. PMID 17325257 DOI: 10.2337/Db06-1665  0.363
2007 Aerts JM, Ottenhoff R, Powlson AS, Grefhorst A, van Eijk M, Dubbelhuis PF, Aten J, Kuipers F, Serlie MJ, Wennekes T, Sethi JK, O'Rahilly S, Overkleeft HS. Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity. Diabetes. 56: 1341-9. PMID 17287460 DOI: 10.2337/Db06-1619  0.386
2007 Franks PW, Loos RJ, Brage S, O'Rahilly S, Wareham NJ, Ekelund U. Physical activity energy expenditure may mediate the relationship between plasma leptin levels and worsening insulin resistance independently of adiposity. Journal of Applied Physiology. 102: 1921-1926. PMID 17234803 DOI: 10.1152/Japplphysiol.01022.2006  0.341
2007 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, et al. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. The New England Journal of Medicine. 356: 237-47. PMID 17229951 DOI: 10.1056/Nejmoa063988  0.438
2007 Franks PW, Ekelund U, Brage S, Luan J, Schafer AJ, O'Rahilly S, Barroso I, Wareham NJ. PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge. Diabetologia. 50: 569-73. PMID 17216277 DOI: 10.1007/S00125-006-0580-1  0.324
2007 O'Rahilly S. Human obesity and insulin resistance: lessons from experiments of nature. Biochemical Society Transactions. 35: 33-36. PMID 17212584 DOI: 10.1042/Bst0350033  0.397
2007 Farooqi IS, O'Rahilly S. Is leptin an important physiological regulator of CRP Nature Medicine. 13: 16-17. PMID 17206122 DOI: 10.1038/Nm0107-16  0.307
2007 Alharbi KK, Spanakis E, Tan K, Smith MJ, Aldahmesh MA, O'Dell SD, Sayer AA, Lawlor DA, Ebrahim S, Davey Smith G, O'Rahilly S, Farooqi S, Cooper C, Phillips DI, Day IN. Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE. Human Mutation. 28: 294-302. PMID 17072869 DOI: 10.1002/Humu.20404  0.383
2007 Hung C-C, Luan J, Sims M, Keogh JM, Hall C, Wareham NJ, O'rahilly S, Farooqi IS. Studies of the SIM1 gene in relation to human obesity and obesity-related traits. International Journal of Obesity. 31: 429-434. PMID 16924270 DOI: 10.1038/Sj.Ijo.0803443  0.443
2007 Gray J, Yeo G, Hung C, Keogh J, Clayton P, Banerjee K, McAulay A, O'Rahilly S, Farooqi IS. Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity International Journal of Obesity. 31: 359-364. PMID 16702999 DOI: 10.1038/Sj.Ijo.0803390  0.667
2006 Topaloglu AK, Lu ZL, Farooqi IS, Mungan NO, Yuksel B, O'Rahilly S, Millar RP. Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene. Neuroendocrinology. 84: 301-8. PMID 17179725 DOI: 10.1159/000098147  0.343
2006 Michalik L, Auwerx J, Berger JP, Chatterjee VK, Glass CK, Gonzalez FJ, Grimaldi PA, Kadowaki T, Lazar MA, O'Rahilly S, Palmer CN, Plutzky J, Reddy JK, Spiegelman BM, Staels B, et al. International Union of Pharmacology. LXI. Peroxisome proliferator-activated receptors. Pharmacological Reviews. 58: 726-41. PMID 17132851 DOI: 10.1124/Pr.58.4.5  0.312
2006 Gray J, Yeo GS, Cox JJ, Morton J, Adlam AL, Keogh JM, Yanovski JA, El Gharbawy A, Han JC, Tung YC, Hodges JR, Raymond FL, O'rahilly S, Farooqi IS. Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Diabetes. 55: 3366-71. PMID 17130481 DOI: 10.2337/Db06-0550  0.596
2006 Farooqi S, O'Rahilly S. Genetics of obesity in humans. Endocrine Reviews. 27: 710-18. PMID 17122358 DOI: 10.1210/ER.2006-0040  0.337
2006 Cai G, Cole SA, Butte N, Bacino C, Diego V, Tan K, Göring HH, O'Rahilly S, Farooqi IS, Comuzzie AG. A quantitative trait locus on chromosome 18q for physical activity and dietary intake in Hispanic children. Obesity (Silver Spring, Md.). 14: 1596-604. PMID 17030971 DOI: 10.1038/Oby.2006.184  0.311
2006 Agostini M, Schoenmakers E, Mitchell C, Szatmari I, Savage D, Smith A, Rajanayagam O, Semple R, Luan J, Bath L, Zalin A, Labib M, Kumar S, Simpson H, Blom D, et al. Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance. Cell Metabolism. 4: 303-11. PMID 17011503 DOI: 10.1016/J.Cmet.2006.09.003  0.355
2006 Gray SL, Dalla Nora E, Grosse J, Manieri M, Stoeger T, Medina-Gomez G, Burling K, Wattler S, Russ A, Yeo GSH, Chatterjee VK, O'Rahilly S, Voshol PJ, Cinti S, Vidal-Puig A. Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor γ function (P465L PPARγ) in mice Diabetes. 55: 2669-2677. PMID 17003330 DOI: 10.2337/Db06-0389  0.325
2006 Farooqi IS, Drop S, Clements A, Keogh JM, Biernacka J, Lowenbein S, Challis BG, O'Rahilly S. Heterozygosity for a POMC-null mutation and increased obesity risk in humans. Diabetes. 55: 2549-53. PMID 16936203 DOI: 10.2337/db06-0214  0.362
2006 O'Rahilly S, Farooqi IS. Genetics of obesity. Philosophical Transactions of the Royal Society B. 361: 1095-1105. PMID 16815794 DOI: 10.1098/Rstb.2006.1850  0.45
2006 Tuthill A, Slawik H, O'Rahilly S, Finer N. Psychiatric co-morbidities in patients attending specialist obesity services in the UK. Qjm : Monthly Journal of the Association of Physicians. 99: 317-25. PMID 16613993 DOI: 10.1093/Qjmed/Hcl041  0.331
2006 Christodoulides C, Scarda A, Granzotto M, Milan G, Dalla Nora E, Keogh J, De Pergola G, Stirling H, Pannacciulli N, Sethi JK, Federspil G, Vidal-Puig A, Farooqi IS, O'Rahilly S, Vettor R. WNT10B mutations in human obesity. Diabetologia. 49: 678-84. PMID 16477437 DOI: 10.1007/S00125-006-0144-4  0.344
2006 Lee YS, Challis BG, Thompson DA, Yeo GS, Keogh JM, Madonna ME, Wraight V, Sims M, Vatin V, Meyre D, Shield J, Burren C, Ibrahim Z, Cheetham T, Swift P, et al. A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance. Cell Metabolism. 3: 135-40. PMID 16459314 DOI: 10.1016/J.Cmet.2006.01.006  0.635
2006 Bhattacharyya S, Luan J, Challis B, Keogh J, Montague C, Brennand J, Morten J, Lowenbeim S, Jenkins S, Farooqi IS, Wareham NJ, O'Rahilly S. Sequence variants in the melatonin-related receptor gene (GPR50) associate with circulating triglyceride and HDL levels. Journal of Lipid Research. 47: 761-766. PMID 16436372 DOI: 10.1194/Jlr.M500338-Jlr200  0.41
2006 Jensen J, Jebens E, Brennesvik EO, Ruzzin J, Soos MA, Engebretsen EM, O'Rahilly S, Whitehead JP. Muscle glycogen inharmoniously regulates glycogen synthase activity, glucose uptake, and proximal insulin signaling. American Journal of Physiology. Endocrinology and Metabolism. 290: E154-E162. PMID 16118249 DOI: 10.1152/Ajpendo.00330.2005  0.307
2005 Farooqi IS, O'Rahilly S. New advances in the genetics of early onset obesity. International Journal of Obesity. 29: 1149-1152. PMID 16155585 DOI: 10.1038/Sj.Ijo.0803056  0.373
2005 Franks PW, Brage S, Luan J, Ekelund U, Rahman M, Farooqi IS, Halsall I, O'Rahilly S, Wareham NJ. Leptin predicts a worsening of the features of the metabolic syndrome independently of obesity. Obesity Research. 13: 1476-1484. PMID 16129731 DOI: 10.1038/Oby.2005.178  0.416
2005 Lelliott CJ, López M, Curtis RK, Parker N, Laudes M, Yeo G, Jimenez-Liñan M, Grosse J, Saha AK, Wiggins D, Hauton D, Brand MD, O'Rahilly S, Griffin JL, Gibbons GF, et al. Transcript and metabolite analysis of the effects of tamoxifen in rat liver reveals inhibition of fatty acid synthesis in the presence of hepatic steatosis. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 19: 1108-19. PMID 15985534 DOI: 10.1096/Fj.04-3196Com  0.576
2005 Jitrapakdee S, Slawik M, Medina-Gomez G, Campbell M, Wallace JC, Sethi JK, O'rahilly S, Vidal-Puig AJ. The peroxisome proliferator-activated receptor-gamma regulates murine pyruvate carboxylase gene expression in vivo and in vitro. The Journal of Biological Chemistry. 280: 27466-76. PMID 15917242 DOI: 10.1074/Jbc.M503836200  0.354
2005 Farooqi IS, O'Rahilly S. Monogenic obesity in humans. Annual Review of Medicine. 56: 443-458. PMID 15660521 DOI: 10.1146/Annurev.Med.56.062904.144924  0.422
2004 Liew CF, Groves CJ, Wiltshire S, Zeggini E, Frayling TM, Owen KR, Walker M, Hitman GA, Levy JC, O'Rahilly S, Hattersley AT, Johnston DG, Mccarthy MI. Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism. Diabetologia. 47: 2168-2175. PMID 15662557 DOI: 10.1007/S00125-004-1575-4  0.366
2004 Bhattacharyya S, Luan J, Farooqi IS, Keogh J, Montague C, Brennand J, Jorde L, Wareham NJ, O'Rahilly S. Studies of the neuromedin U-2 receptor gene in human obesity: evidence for the existence of two ancestral forms of the receptor. The Journal of Endocrinology. 183: 115-20. PMID 15525579 DOI: 10.1677/Joe.1.05830  0.345
2004 Yeo GS, Connie Hung CC, Rochford J, Keogh J, Gray J, Sivaramakrishnan S, O'Rahilly S, Farooqi IS. A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. Nature Neuroscience. 7: 1187-9. PMID 15494731 DOI: 10.1038/Nn1336  0.668
2004 Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O'Rahilly S, Trussell RA. Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy. The Journal of Clinical Endocrinology and Metabolism. 89: 4821-6. PMID 15472169 DOI: 10.1210/jc.2004-0376  0.313
2004 Gibson WT, Ebersole BJ, Bhattacharyya S, Clayton P, Farooqi IS, Sealfon SC, O'Rahilly S. Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity. Canadian Journal of Physiology and Pharmacology. 82: 426-9. PMID 15381968 DOI: 10.1139/Y04-025  0.441
2004 Hung CC, Pirie F, Luan J, Lank E, Motala A, Yeo GS, Keogh JM, Wareham NJ, O'Rahilly S, Farooqi IS. Studies of the peptide YY and neuropeptide Y2 receptor genes in relation to human obesity and obesity-related traits. Diabetes. 53: 2461-6. PMID 15331560 DOI: 10.2337/Diabetes.53.9.2461  0.654
2004 Coll AP, Challis BG, Yeo GS, Snell K, Piper SJ, Halsall D, Thresher RR, O'Rahilly S. The effects of proopiomelanocortin deficiency on murine adrenal development and responsiveness to adrenocorticotropin. Endocrinology. 145: 4721-7. PMID 15231703 DOI: 10.1210/En.2004-0491  0.542
2004 Coll AP, Farooqi IS, Challis BG, Yeo GS, O'Rahilly S. Proopiomelanocortin and energy balance: insights from human and murine genetics. The Journal of Clinical Endocrinology and Metabolism. 89: 2557-62. PMID 15181023 DOI: 10.1210/Jc.2004-0428  0.542
2004 George S, Rochford JJ, Wolfrum C, Gray SL, Schinner S, Wilson JC, Soos MA, Murgatroyd PR, Williams RM, Acerini CL, Dunger DB, Barford D, Umpleby AM, Wareham NJ, Davies HA, et al. A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science (New York, N.Y.). 304: 1325-8. PMID 15166380 DOI: 10.1126/Science.1096706  0.387
2004 Gibson WT, Pissios P, Trombly DJ, Luan J, Keogh J, Wareham NJ, Maratos-Flier E, O'Rahilly S, Farooqi IS. Melanin-concentrating hormone receptor mutations and human obesity: functional analysis. Obesity Research. 12: 743-9. PMID 15166293 DOI: 10.1038/Oby.2004.89  0.487
2004 Challis BG, Coll AP, Yeo GS, Pinnock SB, Dickson SL, Thresher RR, Dixon J, Zahn D, Rochford JJ, White A, Oliver RL, Millington G, Aparicio SA, Colledge WH, Russ AP, et al. Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY(3-36). Proceedings of the National Academy of Sciences of the United States of America. 101: 4695-700. PMID 15070780 DOI: 10.1073/Pnas.0306931101  0.648
2004 O'Rahilly S, Yeo GS, Farooqi IS. Melanocortin receptors weigh in. Nature Medicine. 10: 351-2. PMID 15057231 DOI: 10.1038/Nm0404-351  0.6
2004 Laudes M, Barroso I, Luan J, Soos MA, Yeo G, Meirhaeghe A, Logie L, Vidal-Puig A, Schafer AJ, Wareham NJ, O'Rahilly S. Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes. Diabetes. 53: 842-6. PMID 14988272 DOI: 10.2337/Diabetes.53.3.842  0.609
2004 Hussain K, Bodamer OAF, Cameron FJ, Camacho-Hübner C, Soos MA, Jones J, Krywawych S, O'Rahilly S, Aynsley-Green A. Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. Hormone Research in Paediatrics. 61: 222-227. PMID 14764948 DOI: 10.1159/000076553  0.351
2004 Farooqi IS, O'Rahilly S. Monogenic human obesity syndromes. Recent Progress in Hormone Research. 59: 409-424. PMID 14749512 DOI: 10.1210/Rp.59.1.409  0.449
2004 Challis BG, Luan J, Keogh J, Wareham NJ, Farooqi IS, O'Rahilly S. Genetic variation in the corticotrophin-releasing factor receptors: identification of single-nucleotide polymorphisms and association studies with obesity in UK Caucasians. International Journal of Obesity. 28: 442-446. PMID 14724656 DOI: 10.1038/Sj.Ijo.0802564  0.381
2004 Laudes M, Christodoulides C, Sewter C, Rochford JJ, Considine RV, Sethi JK, Vidal-Puig A, O'Rahilly S. Role of the POZ zinc finger transcription factor FBI-1 in human and murine adipogenesis. The Journal of Biological Chemistry. 279: 11711-8. PMID 14701838 DOI: 10.1074/Jbc.M310240200  0.329
2004 Semple RK, Crowley VC, Sewter CP, Laudes M, Christodoulides C, Considine RV, Vidal-Puig A, O'Rahilly S. Expression of the thermogenic nuclear hormone receptor coactivator PGC-1alpha is reduced in the adipose tissue of morbidly obese subjects. International Journal of Obesity. 28: 176-179. PMID 14557831 DOI: 10.1038/Sj.Ijo.0802482  0.431
2003 Donohoue PA, Tao YX, Collins M, Yeo GS, O'Rahilly S, Segaloff DL. Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female. The Journal of Clinical Endocrinology and Metabolism. 88: 5841-5. PMID 14671178 DOI: 10.1210/Jc.2003-030903  0.66
2003 Jackson RS, Creemers JW, Farooqi IS, Raffin-Sanson ML, Varro A, Dockray GJ, Holst JJ, Brubaker PL, Corvol P, Polonsky KS, Ostrega D, Becker KL, Bertagna X, Hutton JC, White A, et al. Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. The Journal of Clinical Investigation. 112: 1550-60. PMID 14617756 DOI: 10.1172/Jci18784  0.375
2003 Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, et al. The GPR54 gene as a regulator of puberty. The New England Journal of Medicine. 349: 1614-27. PMID 14573733 DOI: 10.1056/Nejmoa035322  0.35
2003 Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P, O'Rahilly S, Zaidi Z, Gurakan F, Arslanian SA, Klar A, Ricker A, White NH, Bindl L, Herbst K, Kennel K, et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. The Journal of Clinical Endocrinology and Metabolism. 88: 4840-7. PMID 14557463 DOI: 10.1210/Jc.2003-030855  0.366
2003 Barroso I, Luan J, Middelberg RP, Harding AH, Franks PW, Jakes RW, Clayton D, Schafer AJ, O'Rahilly S, Wareham NJ. Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action. Plos Biology. 1: E20. PMID 14551916 DOI: 10.1371/Journal.Pbio.0000020  0.368
2003 O'Rahilly S, Farooqi IS, Yeo GS, Challis BG. Minireview: human obesity-lessons from monogenic disorders. Endocrinology. 144: 3757-64. PMID 12933645 DOI: 10.1210/En.2003-0373  0.639
2003 Farooqi IS, Yeo GS, O'Rahilly S. Binge eating as a phenotype of melanocortin 4 receptor gene mutations. The New England Journal of Medicine. 349: 606-9; author reply . PMID 12908459  0.576
2003 Meirhaeghe A, Crowley V, Lenaghan C, Lelliott C, Green K, Stewart A, Hart K, Schinner S, Sethi JK, Yeo G, Brand MD, Cortright RN, O'Rahilly S, Montague C, Vidal-Puig AJ. Characterization of the human, mouse and rat PGC1 beta (peroxisome-proliferator-activated receptor-gamma co-activator 1 beta) gene in vitro and in vivo. The Biochemical Journal. 373: 155-65. PMID 12678921 DOI: 10.1042/Bj20030200  0.584
2003 Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, O'Rahilly S. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. The New England Journal of Medicine. 348: 1085-95. PMID 12646665 DOI: 10.1056/Nejmoa022050  0.669
2003 Yeo GS, Lank EJ, Farooqi IS, Keogh J, Challis BG, O'Rahilly S. Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. Human Molecular Genetics. 12: 561-74. PMID 12588803 DOI: 10.1093/Hmg/Ddg057  0.648
2003 Haqq AM, Farooqi IS, O'Rahilly S, Stadler DD, Rosenfeld RG, Pratt KL, LaFranchi SH, Purnell JQ. Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome. The Journal of Clinical Endocrinology and Metabolism. 88: 174-8. PMID 12519848 DOI: 10.1210/jc.2002-021052  0.306
2002 O'Rahilly S. Leptin: defining its role in humans by the clinical study of genetic disorders. Nutrition Reviews. 60: S30-4; discussion S6. PMID 12403081 DOI: 10.1301/002966402320634904  0.324
2002 Farooqi IS, Matarese G, Lord GM, Keogh JM, Lawrence E, Agwu C, Sanna V, Jebb SA, Perna F, Fontana S, Lechler RI, DePaoli AM, O'Rahilly S. Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. The Journal of Clinical Investigation. 110: 1093-103. PMID 12393845 DOI: 10.1172/JCI15693  0.3
2002 O'Rahilly S. Insights into obesity and insulin resistance from the study of extreme human phenotypes European Journal of Endocrinology. 147: 435-441. PMID 12370103 DOI: 10.1530/Eje.0.1470435  0.443
2002 Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, et al. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. Journal of Medical Genetics. 39: 722-33. PMID 12362029 DOI: 10.1136/Jmg.39.10.722  0.33
2002 Berger D, Barroso I, Soos M, Yeo G, Schafer AJ, O'Rahilly S, Whitehead JP. Genetic variants of insulin receptor substrate-1 (IRS-1) in syndromes of severe insulin resistance. Functional analysis of Ala513Pro and Gly1158Glu IRS-1. Diabetic Medicine : a Journal of the British Diabetic Association. 19: 804-9. PMID 12358865 DOI: 10.1046/J.1464-5491.2002.00779.X  0.635
2002 Sewter C, Blows F, Considine R, Vidal-Puig A, O'Rahilly S. Differential Effects of Adiposity on Peroxisomal Proliferator-Activated Receptor γ1 and γ2 Messenger Ribonucleic Acid Expression in Human Adipocytes The Journal of Clinical Endocrinology and Metabolism. 87: 4203-4207. PMID 12213872 DOI: 10.1210/Jc.2002-011511  0.383
2002 Mulligan C, Rochford J, Denyer G, Stephens R, Yeo G, Freeman T, Siddle K, O'Rahilly S. Microarray analysis of insulin and insulin-like growth factor-1 (IGF-1) receptor signaling reveals the selective up-regulation of the mitogen heparin-binding EGF-like growth factor by IGF-1. The Journal of Biological Chemistry. 277: 42480-7. PMID 12213819 DOI: 10.1074/Jbc.M206206200  0.609
2002 Challis BG, Pritchard LE, Creemers JWM, Delplanque J, Keogh JM, Luan J, Wareham NJ, Yeo GSH, Bhattacharyya S, Froguel P, White A, Sadaf Farooqi I, O'Rahilly S. A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism Human Molecular Genetics. 11: 1997-2004. PMID 12165561 DOI: 10.1093/Hmg/11.17.1997  0.446
2002 Crowley VE, Yeo GS, O'Rahilly S. Obesity therapy: altering the energy intake-and-expenditure balance sheet. Nature Reviews. Drug Discovery. 1: 276-86. PMID 12120279 DOI: 10.1038/Nrd770  0.647
2002 Savage DB, Agostini M, Barroso I, Gurnell M, Luan J, Meirhaeghe A, Harding AH, Ihrke G, Rajanayagam O, Soos MA, George S, Berger D, Thomas EL, Bell JD, Meeran K, et al. Digenic inheritance of severe insulin resistance in a human pedigree. Nature Genetics. 31: 379-84. PMID 12118251 DOI: 10.1038/Ng926  0.406
2002 Singhal A, Farooqi IS, O'Rahilly S, Cole TJ, Fewtrell M, Lucas A. Early nutrition and leptin concentrations in later life The American Journal of Clinical Nutrition. 75: 993-999. PMID 12036804 DOI: 10.1093/Ajcn/75.6.993  0.363
2002 Sewter C, Berger D, Considine RV, Medina G, Rochford J, Ciaraldi T, Henry R, Dohm L, Flier JS, O'Rahilly S, Vidal-Puig AJ. Human obesity and type 2 diabetes are associated with alterations in SREBP1 isoform expression that are reproduced ex vivo by tumor necrosis factor-alpha. Diabetes. 51: 1035-41. PMID 11916923 DOI: 10.2337/DIABETES.51.4.1035  0.306
2002 Combs TP, Wagner JA, Berger J, Doebber T, Wang WJ, Zhang BB, Tanen M, Berg AH, O'Rahilly S, Savage DB, Chatterjee K, Weiss S, Larson PJ, Gottesdiener KM, Gertz BJ, et al. Induction of adipocyte complement-related protein of 30 kilodaltons by PPARgamma agonists: a potential mechanism of insulin sensitization. Endocrinology. 143: 998-1007. PMID 11861525 DOI: 10.1210/Endo.143.3.8662  0.418
2001 Meirhaeghe A, Luan J, Selberg-Franks P, Hennings S, Mitchell JO, Halsall D, O'rahilly S, Wareham NJ. The Effect of the Gly16Arg Polymorphism of theβ 2-Adrenergic Receptor Gene on Plasma Free Fatty Acid Levels Is Modulated by Physical Activity The Journal of Clinical Endocrinology and Metabolism. 86: 5881-5887. PMID 11739457 DOI: 10.1210/Jcem.86.12.8103  0.345
2001 Farooqi IS, Keogh JM, Kamath S, Jones S, Gibson WT, Trussell R, Jebb SA, Lip GY, O'Rahilly S. Partial leptin deficiency and human adiposity. Nature. 414: 34-5. PMID 11689931 DOI: 10.1038/35102112  0.417
2001 Vidal-Puig A, O'Rahilly S. Resistin: a new link between obesity and insulin resistance? Clinical Endocrinology. 55: 437-438. PMID 11678824 DOI: 10.1046/J.1365-2265.2001.01377.X  0.416
2001 Savage DB, Sewter CP, Klenk ES, Segal DG, Vidal-Puig A, Considine RV, O'Rahilly S. Resistin / Fizz3 expression in relation to obesity and peroxisome proliferator-activated receptor-gamma action in humans. Diabetes. 50: 2199-202. PMID 11574398 DOI: 10.2337/DIABETES.50.10.2199  0.34
2001 Magré J, Delépine M, Khallouf E, Gedde-Dahl T, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nature Genetics. 28: 365-70. PMID 11479539 DOI: 10.1038/Ng585  0.354
2001 Niesler CU, Prins JB, O'Rahilly S, Siddle K, Montague CT. Adipose depot-specific expression of cIAP2 in human preadipocytes and modulation of expression by serum factors and TNFalpha. International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association For the Study of Obesity. 25: 1027-33. PMID 11443502 DOI: 10.1038/sj.ijo.0801649  0.328
2001 O'Rahilly S. Uncoupling protein 2: Adiposity angel and diabetes devil? Nature Medicine. 7: 770-772. PMID 11433333 DOI: 10.1038/89877  0.365
2001 Halsall D, Luan J, Saker P, Huxtable S, Farooqi I, Keogh J, Wareham N, O'Rahilly S. Uncoupling protein 3 genetic variants in human obesity: the c-55t promoter polymorphism is negatively correlated with body mass index in a UK Caucasian population. International Journal of Obesity. 25: 472-477. PMID 11319649 DOI: 10.1038/Sj.Ijo.0801584  0.455
2001 Ursø B, Niesler CU, O'Rahilly S, Siddle K. Comparison of anti-apoptotic signalling by the insulin receptor and IGF-I receptor in preadipocytes and adipocytes. Cellular Signalling. 13: 279-285. PMID 11306245 DOI: 10.1016/S0898-6568(01)00130-9  0.347
2001 Luan J, Browne PO, Harding AH, Halsall DJ, O'Rahilly S, Chatterjee VK, Wareham NJ. Evidence for gene-nutrient interaction at the PPARgamma locus. Diabetes. 50: 686-9. PMID 11246892 DOI: 10.2337/DIABETES.50.3.686  0.31
2001 Bano G, Rodin DA, White A, O'rahilly S, Nussey SS. Is the defect in pro-hormone processing in Type 2 diabetes mellitus restricted to the β cell? Diabetic Medicine. 18: 17-21. PMID 11168336 DOI: 10.1046/J.1464-5491.2001.00397.X  0.306
2001 Nugent C, Prins JB, Whitehead JP, Wentworth JM, Chatterjee VK, O'Rahilly S. Arachidonic acid stimulates glucose uptake in 3T3-L1 adipocytes by increasing GLUT1 and GLUT4 levels at the plasma membrane. Evidence for involvement of lipoxygenase metabolites and peroxisome proliferator-activated receptor gamma. The Journal of Biological Chemistry. 276: 9149-57. PMID 11124961 DOI: 10.1074/Jbc.M009817200  0.307
2001 Farooqi I, O'Rahilly S. Genetics of Severe Childhood Obesity Clinical Science. 101. DOI: 10.1042/Cs101012Pb  0.39
2000 Vidal-Puig A, O'Rahilly S. Obesity and diabetes: an avalanche of new information. Molecular Medicine Today. 6: 221-223. PMID 10939842 DOI: 10.1016/S1357-4310(00)01714-7  0.364
2000 Rau H, Kocova M, O'Rahilly S, Whitehead JP. Naturally occurring amino acid substitutions at Arg1174 in the human insulin receptor result in differential effects on receptor biosynthesis and hybrid formation, leading to discordant clinical phenotypes. Diabetes. 49: 1264-8. PMID 10909987 DOI: 10.2337/Diabetes.49.7.1264  0.375
2000 Challis BG, Yeo GS, Farooqi IS, Luan J, Aminian S, Halsall DJ, Keogh JM, Wareham NJ, O'Rahilly S. The CART gene and human obesity: mutational analysis and population genetics. Diabetes. 49: 872-5. PMID 10905499 DOI: 10.2337/Diabetes.49.5.872  0.691
2000 Farooqi IS, Yeo GS, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O'Rahilly S. Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. The Journal of Clinical Investigation. 106: 271-9. PMID 10903343 DOI: 10.1172/Jci9397  0.651
2000 Whitehead JP, Soos MA, Aslesen R, O'rahilly S, Jensen J. Contraction inhibits insulin-stimulated insulin receptor substrate-1/2-associated phosphoinositide 3-kinase activity, but not protein kinase B activation or glucose uptake, in rat muscle. The Biochemical Journal. 349: 775-81. PMID 10903138 DOI: 10.1042/Bj3490775  0.309
2000 Farooqi IS, O'Rahilly S. Recent advances in the genetics of severe childhood obesity Archives of Disease in Childhood. 83: 31-34. PMID 10868996 DOI: 10.1136/Adc.83.1.31  0.409
2000 Montague CT, O'Rahilly S. The perils of portliness: causes and consequences of visceral adiposity. Diabetes. 49: 883-888. PMID 10866038 DOI: 10.2337/Diabetes.49.6.883  0.411
2000 Digby JE, Crowley VE, Sewter CP, Whitehead JP, Prins JB, O'Rahilly S. Depot-related and thiazolidinedione-responsive expression of uncoupling protein 2 (UCP2) in human adipocytes. International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association For the Study of Obesity. 24: 585-92. PMID 10849580 DOI: 10.1038/Sj.Ijo.0801201  0.324
2000 Baynes KC, Beeton CA, Panayotou G, Stein R, Soos M, Hansen T, Simpson H, O'Rahilly S, Shepherd PR, Whitehead JP. Natural variants of human p85 alpha phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity. Diabetologia. 43: 321-31. PMID 10768093 DOI: 10.1007/S001250050050  0.374
2000 Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature Genetics. 24: 153-6. PMID 10655060 DOI: 10.1038/72807  0.37
2000 Yeo GS, Farooqi IS, Challis BG, Jackson RS, O'Rahilly S. The role of melanocortin signalling in the control of body weight: evidence from human and murine genetic models. Qjm : Monthly Journal of the Association of Physicians. 93: 7-14. PMID 10623776 DOI: 10.1093/Qjmed/93.1.7  0.639
2000 Huxtable SJ, Saker PJ, Haddad L, Walker M, Frayling TM, Levy JC, Hitman GA, O'Rahilly S, Hattersley AT, McCarthy MI. Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles. Diabetes. 49: 126-130. PMID 10615960 DOI: 10.2337/Diabetes.49.1.126  0.309
1999 Barroso I, Gurnell M, Crowley VE, Agostini M, Schwabe JW, Soos MA, Maslen GL, Williams TD, Lewis H, Schafer AJ, Chatterjee VK, O'Rahilly S. Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. Nature. 402: 880-3. PMID 10622252 DOI: 10.1038/47254  0.391
1999 Ursø B, Brown RA, O'Rahilly S, Shepherd PR, Siddle K. The α‐isoform of class II phosphoinositide 3‐kinase is more effectively activated by insulin receptors than IGF receptors, and activation requires receptor NPEY motifs Febs Letters. 460: 423-426. PMID 10556509 DOI: 10.1016/S0014-5793(99)01388-5  0.327
1999 Ursø B, Cope DL, Kalloo-Hosein HE, Hayward AC, Whitehead JP, O'Rahilly S, Siddle K. Differences in signaling properties of the cytoplasmic domains of the insulin receptor and insulin-like growth factor receptor in 3T3-L1 adipocytes. The Journal of Biological Chemistry. 274: 30864-73. PMID 10521479 DOI: 10.1074/Jbc.274.43.30864  0.344
1999 Sewter C, Digby J, Blows F, Prins J, O'Rahilly S. Regulation of tumour necrosis factor-alpha release from human adipose tissue in vitro. Journal of Endocrinology. 163: 33-38. PMID 10495404 DOI: 10.1677/Joe.0.1630033  0.308
1999 Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, Kocak N, O'Rahilly S, Taylor SI, Patel SB, Bowcock AM. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. The Journal of Clinical Endocrinology and Metabolism. 84: 3390-4. PMID 10487716 DOI: 10.1210/Jcem.84.9.6103  0.367
1999 Farooqi IS, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O'Rahilly S. Effects of recombinant leptin therapy in a child with congenital leptin deficiency. The New England Journal of Medicine. 341: 879-84. PMID 10486419 DOI: 10.1056/Nejm199909163411204  0.444
1999 Farooqi S, Rau H, Whitehead J, O'Rahilly S. ob gene mutations and human obesity. The Proceedings of the Nutrition Society. 57: 471-5. PMID 9794006 DOI: 10.1079/PNS19980067  0.322
1998 Berger A, Brand M, O'Rahilly S. Uncoupling proteins: the unravelling of obesity?: Increased understanding of mechanisms may lead, in time, to better drugs Bmj. 317: 1607-1608. PMID 9848896 DOI: 10.1136/Bmj.317.7173.1607  0.441
1998 Yeo GS, Farooqi IS, Aminian S, Halsall DJ, Stanhope RG, O'Rahilly S. A frameshift mutation in MC4R associated with dominantly inherited human obesity. Nature Genetics. 20: 111-2. PMID 9771698 DOI: 10.1038/2404  0.667
1998 Krook A, Digby J, O'Rahilly S, Zierath JR, Wallberg-Henriksson H. Uncoupling protein 3 is reduced in skeletal muscle of NIDDM patients. Diabetes. 47: 1528-1531. PMID 9726246 DOI: 10.2337/Diabetes.47.9.1528  0.345
1998 Montague CT, Prins JB, Sanders L, Zhang J, Sewter CP, Digby J, Byrne CD, O'rahilly S. Depot-related gene expression in human subcutaneous and omental adipocytes. Diabetes. 47: 1384-1391. PMID 9726225 DOI: 10.2337/Diabetes.47.9.1384  0.391
1998 Whitehead JP, Soos MA, Jackson R, Tasic V, Kocova M, O'Rahilly S. Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. Diabetes. 47: 1362-4. PMID 9703342 DOI: 10.2337/Diab.47.8.1362  0.334
1998 Wareham NJ, O'Rahilly S. The changing classification and diagnosis of diabetes: New classification is based on pathogenesis, not insulin dependence Bmj. 317: 359-360. PMID 9694745 DOI: 10.1136/Bmj.317.7155.359  0.313
1998 Whitehead JP, Humphreys P, Krook A, Jackson R, Hayward A, Lewis H, Siddle K, O'Rahilly S. Molecular scanning of the insulin receptor substrate 1 gene in subjects with severe insulin resistance: detection and functional analysis of a naturally occurring mutation in a YMXM motif. Diabetes. 47: 837-9. PMID 9588458 DOI: 10.2337/Diabetes.47.5.837  0.379
1998 O'Rahilly S. Life without leptin. Nature. 392: 330-331. PMID 9537316 DOI: 10.1038/32769  0.425
1998 Kalidas K, Dow E, Saker PJ, Wareham N, Halsall D, Jackson RS, Chan S, Gelding S, Walker M, Kousta E, Johnston DG, O'Rahilly S, McCarthy MI. Prohormone Convertase 1 in Obesity, Gestational Diabetes Mellitus, and NIDDM: No Evidence for a Major Susceptibility Role Diabetes. 47: 287-289. PMID 9519729 DOI: 10.2337/Diab.47.2.287  0.366
1998 Dib K, Whitehead JP, Humphreys PJ, Soos MA, Baynes KC, Kumar S, Harvey T, O'Rahilly S. Impaired activation of phosphoinositide 3-kinase by insulin in fibroblasts from patients with severe insulin resistance and pseudoacromegaly. A disorder characterized by selective postreceptor insulin resistance. The Journal of Clinical Investigation. 101: 1111-20. PMID 9486982 DOI: 10.1172/Jci119884  0.349
1998 Digby JE, Montague CT, Sewter CP, Sanders L, Wilkison WO, O'Rahilly S, Prins JB. Thiazolidinedione exposure increases the expression of uncoupling protein 1 in cultured human preadipocytes. Diabetes. 47: 138-141. PMID 9421389 DOI: 10.2337/Diab.47.1.138  0.377
1997 Adams M, Montague CT, Prins JB, Holder JC, Smith SA, Sanders L, Digby JE, Sewter CP, Lazar MA, Chatterjee VK, O'Rahilly S. Activators of peroxisome proliferator-activated receptor gamma have depot-specific effects on human preadipocyte differentiation. The Journal of Clinical Investigation. 100: 3149-53. PMID 9399962 DOI: 10.1172/Jci119870  0.366
1997 Prins JB, Niesler CU, Winterford CM, Bright NA, Siddle K, O'Rahilly S, Walker NI, Cameron DP. Tumor necrosis factor-alpha induces apoptosis of human adipose cells. Diabetes. 46: 1939-44. PMID 9392477 DOI: 10.2337/Diab.46.12.1939  0.31
1997 Baynes KC, Whitehead J, Krook A, O'Rahilly S. Molecular mechanisms of inherited insulin resistance. Qjm : Monthly Journal of the Association of Physicians. 90: 557-62. PMID 9349447 DOI: 10.1093/Qjmed/90.9.557  0.307
1997 Whitehead JP, Humphreys PJ, Dib K, Goding JW, O'Rahilly S. Expression of the putative inhibitor of the insulin receptor tyrosine kinase PC-1 in dermal fibroblasts from patients with syndromes of severe insulin resistance. Clinical Endocrinology. 47: 65-70. PMID 9302374 DOI: 10.1046/J.1365-2265.1997.2171021.X  0.376
1997 Jackson RS, Creemers JWM, Ohagi S, Raffin-Sanson M, Sanders L, Montague CT, Hutton JC, O'Rahilly S. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene Nature Genetics. 16: 303-306. PMID 9207799 DOI: 10.1038/Ng0797-303  0.474
1997 Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O'Rahilly S. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature. 387: 903-8. PMID 9202122 DOI: 10.1038/43185  0.491
1997 Jackson SN, Howlett TA, McNally PG, O'Rahilly S, Trembath RC. Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy. Qjm : Monthly Journal of the Association of Physicians. 90: 27-36. PMID 9093586 DOI: 10.1093/Qjmed/90.1.27  0.332
1997 Prins JB, O'rahilly S. Regulation of Adipose Cell Number in Man Clinical Science. 92: 3-11. PMID 9038586 DOI: 10.1042/Cs0920003  0.364
1997 Montague CT, Prins JB, Sanders L, Digby JE, O'Rahilly S. Depot- and Sex-Specific Differences in Human Leptin mRNA Expression: Implications for the Control of Regional Fat Distribution Diabetes. 46: 342-347. PMID 9032087 DOI: 10.2337/Diab.46.3.342  0.395
1996 Krook A, O'Rahilly S. Homozygous mutation in the insulin receptor Clinical Endocrinology. 45: 237-238. PMID 8881458 DOI: 10.1046/J.1365-2265.1996.D01-1566.X  0.369
1996 Krook A, O'Rahilly S. Mutant insulin receptors in syndromes of insulin resistance BaillièRe's Clinical Endocrinology and Metabolism. 10: 97-122. PMID 8734453 DOI: 10.1016/S0950-351X(96)80330-2  0.379
1996 Krook A, Soos MA, O'Rahilly S, Siddle K, Kumar S. Functional activation of mutant human insulin receptor by monoclonal antibody The Lancet. 347: 1586-1590. PMID 8667867 DOI: 10.1016/S0140-6736(96)91076-4  0.363
1996 Krook A, Moller DE, Dib K, O'Rahilly S. Two Naturally Occurring Mutant Insulin Receptors Phosphorylate Insulin Receptor Substrate-1 (IRS-1) but Fail to Mediate the Biological Effects of Insulin EVIDENCE THAT IRS-1 PHOSPHORYLATION IS NOT SUFFICIENT FOR NORMAL INSULIN ACTION Journal of Biological Chemistry. 271: 7134-7140. PMID 8636149 DOI: 10.1074/Jbc.271.12.7134  0.363
1996 Talbot JA, Bicknell EJ, Rajkhowa M, Krook A, O'Rahilly S, Clayton RN. Molecular scanning of the insulin receptor gene in women with polycystic ovarian syndrome Journal of Clinical Endocrinology and Metabolism. 81: 1979-1983. PMID 8626868 DOI: 10.1210/Jcem.81.5.8626868  0.361
1995 Krook A, Bell JA, Robertson ME, Brueton L, O'Rahilly S. Prenatal analysis of the insulin receptor gene in a family with leprechaunism Prenatal Diagnosis. 15: 669-671. PMID 8532629 DOI: 10.1002/Pd.1970150714  0.353
1995 Swinn RA, Wareham NJ, Gregory R, Curling V, Clark PM, Dalton KJ, Edwards OM, O'Rahilly S. Excessive Secretion of Insulin Precursors Characterizes and Predicts Gestational Diabetes Diabetes. 44: 911-915. PMID 7621996 DOI: 10.2337/Diab.44.8.911  0.336
1995 O'Rahilly S, Gray H, Humphreys PJ, Krook A, Polonsky KS, White A, Gibson S, Taylor K, Carr C. Brief report: Impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function The New England Journal of Medicine. 333: 1386-1390. PMID 7477119 DOI: 10.1056/Nejm199511233332104  0.358
1995 Krook A, Moller D, Soos M, Kumar S, Wass J, O'Rahilly S. Functional Properties of Naturally Occurring Insulin Receptor Mutations Clinical Science. 89. DOI: 10.1042/Cs089040Pc  0.363
1995 Humphreys P, Krook A, Soos M, O'Rahilly S. Severe Insulin Resistance: Biochemical and Genetic Studies of Insulin Signal Transduction Clinical Science. 89. DOI: 10.1042/Cs089003Pa  0.334
1994 Krook A, Kumar S, Laing I, Boulton AJM, Wass JAH, O'Rahilly S. Molecular Scanning of the Insulin Receptor Gene in Syndromes of Insulin Resistance Diabetes. 43: 357-368. PMID 8314008 DOI: 10.2337/Diab.43.3.357  0.41
1994 O'Rahilly S, Gray H, Hattersley A, Vaag A. Insulin resistance as the major cause of impaired glucose tolerance: a self-fulfilling prophesy? The Lancet. 344: 585-589. PMID 7914964 DOI: 10.1016/S0140-6736(94)91969-0  0.336
1994 Shield JPH, O'Rahilly S, Baum JD. 208 Transient Neonatal Diabetes As An Early Manifestation Of An Inherited Insulin Resistance Syndrome Pediatric Research. 36: 37-37. DOI: 10.1203/00006450-199407000-00208  0.349
1993 Flier JS, Moller DE, Moses AC, O'Rahilly S, Chaiken RL, Grigorescu F, Elahi D, Kahn BB, Weinreb JE, Eastman R. Insulin-mediated pseudoacromegaly: clinical and biochemical characterization of a syndrome of selective insulin resistance. The Journal of Clinical Endocrinology and Metabolism. 76: 1533-41. PMID 8388881 DOI: 10.1210/Jcem.76.6.8388881  0.348
1993 O'Rahilly S. Glucokinase and non-insulin-dependent diabetes Clinical Endocrinology. 39: 17-19. PMID 8348703 DOI: 10.1111/J.1365-2265.1993.Tb01745.X  0.308
1993 Krook A, O'Rahilly S, Brueton L. Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism The Lancet. 342: 277-278. PMID 8101305 DOI: 10.1016/0140-6736(93)91820-C  0.378
1993 O'Rahilly S. Molecular aspects of non-insulin-dependent diabetes. Eye. 7: 214-217. PMID 7607337 DOI: 10.1038/Eye.1993.51  0.307
1992 O'Rahilly S, Patel P, Lehmann OJ, Tybjaerg-Hansen A, Nerup J, Turner RC, Wainscoat JS. Multipoint linkage analysis of the short arm of chromosome 11 in non-insulin dependent diabetes including maturity onset diabetes of youth Human Genetics. 89: 207-212. PMID 1587533 DOI: 10.1007/Bf00217125  0.301
1992 O'Rahilly S, Moller DE. Mutant insulin receptors in syndromes of insulin resistance Clinical Endocrinology. 36: 121-132. PMID 1568345 DOI: 10.1111/J.1365-2265.1992.Tb00945.X  0.353
1992 O'Rahilly S, Krook A, Morgan R, Reese A, Flier JS, Moller DE. Insulin receptor and insulin-responsive glucose transporter (GLUT 4) mutations and polymorphisms in a Welsh type 2 (non-insulin-dependent) diabetic population. Diabetologia. 35: 486-489. PMID 1521731 DOI: 10.1007/Bf02342449  0.354
1992 Krook A, Stratton IM, O'Rahilly S. Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulindependent diabetes Human Molecular Genetics. 1: 391-395. PMID 1301912 DOI: 10.1093/Hmg/1.6.391  0.386
1991 O'Rahilly S, Choi WH, Patel P, Turner RC, Flier JS, Moller DE. Detection of Mutations in Insulin-Receptor Gene in NIDDM Patients by Analysis of Single-Stranded Conformation Polymorphisms Diabetes. 40: 777-782. PMID 2040394 DOI: 10.2337/Diab.40.6.777  0.384
1991 Choi WH, O'Rahilly S, Buse JB, Rees A, Morgan R, Flier JS, Moller DE. Molecular Scanning of Insulin-Responsive Glucose Transporter (GLUT4) Gene in NIDDM Subjects Diabetes. 40: 1712-1718. PMID 1756912 DOI: 10.2337/Diab.40.12.1712  0.355
1991 Cook JTE, Patel PP, Clark A, Höppener JWM, Lips CJM, Mosselman S, O'Rahilly S, Page RC, Wainscoat JS, Turner RC. Non-linkage of the islet amyloid polypeptide gene with type 2 (non-insulin-dependent) diabetes mellitus. Diabetologia. 34: 103-108. PMID 1676684 DOI: 10.1007/Bf00500380  0.327
1989 O'Rahilly S, Patel P, Wainscoat JS, Turner RC. Analysis of the HepG2/erythrocyte glucose transporter locus in a family with type 2 (non-insulin-dependent) diabetes and obesity. Diabetologia. 32: 266-269. PMID 2569430 DOI: 10.1007/Bf00285296  0.374
1988 O'Rahilly S, Turner RC, Matthews DR. Impaired pulsatile secretion of insulin in relatives of patients with non-insulin-dependent diabetes New England Journal of Medicine. 318: 1225-1230. PMID 3283553 DOI: 10.1056/Nejm198805123181902  0.349
1988 O'Rahilly S, Trembath RC, Patel P, Galton DJ, Turner RC, Wainscoat JS. Linkage analysis of the human insulin receptor gene in type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young. Diabetologia. 31: 792-797. PMID 3234633 DOI: 10.1007/Bf00277479  0.35
1988 Turner RC, Matthews DR, Clark A, O'Rahilly S, Rudenski AS, Levy J. 3 Pathogenesis of NIDDM—a disease of deficient insulin secretion BaillièRe's Clinical Endocrinology and Metabolism. 2: 327-342. PMID 3075895 DOI: 10.1016/S0950-351X(88)80035-1  0.358
1988 O'Rahilly S, Wainscoat JS, Turner RC. Type 2 (non-insulin-dependent) diabetes mellitus. New genetics for old nightmares. Diabetologia. 31: 407-414. PMID 3065103 DOI: 10.1007/Bf00271584  0.321
1988 Patel P, O'Rahilly S, Ullrich A, Turner RC, Wainscoat JS. A new Sst 1 RFLP associated with human insulin receptor locus Nucleic Acids Research. 16: 5700-5700. PMID 2898769 DOI: 10.1093/Nar/16.12.5700  0.356
Show low-probability matches.