Professor Stephen O'Rahilly FRS FMedSci

Stephen O'Rahilly

University position

Head of Department

Professor Stephen O'Rahilly FRS FMedSci is pleased to consider applications from prospective PhD students.


Department of Clinical Biochemistry


Institute of Metabolic Science


Home page (personal home page)

Research Themes

Cellular and Molecular Neuroscience

Developmental Neuroscience


My research has been concerned with the elucidation of the basic causes of obesity and Type 2 diabetes at a molecular level and the translation of those discoveries into improved diagnosis and therapy for patients. My work has uncovered several previously unrecognised genetic causes of these diseases including some that are amenable to specific treatment.

Research Focus





Clinical conditions



No equipment indicated



Ines Barroso

Tony Coll

Sadaf Farooqi

David Savage

Robert Semple

Toni Vidal-Puig

Nick Wareham

Associated News Items



Ding Z, Mangino M, Aviv A, Spector T, Durbin R, UK10K Consortium (2014), “Estimating telomere length from whole genome sequence data.” Nucleic Acids Res 42(9):e75 Details

Grosse J, Heffron H, Burling K, Akhter Hossain M, Habib AM, Rogers GJ, Richards P, Larder R, Rimmington D, Adriaenssens AA, Parton L, Powell J, Binda M, Colledge WH, Doran J, Toyoda Y, Wade JD, Aparicio S, Carlton MB, Coll AP, Reimann F, O'Rahilly S, Gribble FM (2014), “Insulin-like peptide 5 is an orexigenic gastrointestinal hormone.” Proc Natl Acad Sci U S A Details

Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R, UK10K Consortium, Duchen MR, Muntoni F, Sheridan E (2014), “Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.” Nat Genet 46(2):188-93 Details

MuTHER Consortium (2014), “Differential methylation of the TRPA1 promoter in pain sensitivity.” Nat Commun 5:2978 Details

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 (2014), “Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.” Proc Natl Acad Sci U S A 111(24):8901-6 Details

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, Farooqi IS, Carter-Su C (2014), “Functional characterisation of obesity-associated variants involving the alpha and beta isoforms of human SH2B1.” Endocrinology :en20141264 Details

van der Klaauw AA, von dem Hagen EA, Keogh JM, Henning E, O'Rahilly S, Lawrence AD, Calder AJ, Farooqi IS (2014), “Obesity-Associated Melanocortin-4 Receptor Mutations Are Associated With Changes in the Brain Response to Food Cues.” J Clin Endocrinol Metab :jc20141651 Details


Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD, Uk10k, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM (2013), “Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.” Hum Mutat 34(3):462-72 Details

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, Ridderstråle M, Marcus C, Hirschhorn JN, Keogh JM, O'Rahilly S, Chan LF, Clark AJ, Farooqi IS, Majzoub JA (2013), “Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity.” Science 341(6143):275-8 Details

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ, UK10K Consortium, Lin YY, Muntoni F (2013), “Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.” Am J Hum Genet 93(1):29-41 Details

Cheung MK, Gulati P, O'Rahilly S, Yeo GS (2013), “FTO expression is regulated by availability of essential amino acids.” Int J Obes (Lond) 37(5):744-7 Details

Evans DM, Brion MJ, Paternoster L, Kemp JP, McMahon G, Munafò M, Whitfield JB, Medland SE, Montgomery GW, GIANT Consortium, CRP Consortium, TAG Consortium, Timpson NJ, St Pourcain B, Lawlor DA, Martin NG, Dehghan A, Hirschhorn J, Davey Smith G (2013), “Mining the human phenome using allelic scores that index biological intermediates.” PLoS Genet 9(10):e1003919 Details

Frank GR, Fox J, Candela N, Jovanovic Z, Bochukova E, Levine J, Papenhausen PR, O'Rahilly S, Farooqi IS (2013), “Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.” Mol Genet Metab 110(1-2):191-4 Details

Grundberg E, Meduri E, Sandling JK, Hedman AK, Keildson S, Buil A, Busche S, Yuan W, Nisbet J, Sekowska M, Wilk A, Barrett A, Small KS, Ge B, Caron M, Shin SY, Multiple Tissue Human Expression Resource Consortium, Lathrop M, Dermitzakis ET, McCarthy MI, Spector TD, Bell JT, Deloukas P (2013), “Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements.” Am J Hum Genet 93(5):876-90 Details

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 (2013), “Role for the obesity-related FTO gene in the cellular sensing of amino acids.” Proc Natl Acad Sci U S A 110(7):2557-62 Details

Lowe CE, Zhang Q, Dennis RJ, Aubry EM, O'Rahilly S, Wakelam MJ, Rochford JJ (2013), “Knockdown of diacylglycerol kinase delta inhibits adipocyte differentiation and alters lipid synthesis.” Obesity (Silver Spring) 21(9):1823-9 Details

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 (2013), “Adult onset global loss of the fto gene alters body composition and metabolism in the mouse.” PLoS Genet 9(1):e1003166 Details

O'Rahilly S (2013), “A conversation with Stephen O'Rahilly. Interviewed by Ushma S. Neill.” J Clin Invest 123(6):2335-6 Details

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, Gayton E, Hindmarsh PC, Shield JP, Crowne E, Barford D, Wareham NJ, UK10K consortium, O'Rahilly S, Murphy MP, Powell DR, Barroso I, Farooqi IS (2013), “KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.” Cell 155(4):765-77 Details

Ramachandrappa S, Raimondo A, Cali AM, Keogh JM, Henning E, Saeed S, Thompson A, Garg S, Bochukova EG, Brage S, Trowse V, Wheeler E, Sullivan AE, Dattani M, Clayton PE, Datta V, Bruning JB, Wareham NJ, O'Rahilly S, Peet DJ, Barroso I, Whitelaw ML, Farooqi IS (2013), “Rare variants in single-minded 1 (SIM1) are associated with severe obesity.” J Clin Invest 123(7):3042-50 Details

Ramanathan N, Ahmed M, Raffan E, Stewart CL, O'Rahilly S, Semple RK, Raef H, Rochford JJ (2013), “Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 : C48R: A Novel Mutation in AGPAT2.” JIMD Rep 9:73-80 Details

Roberts EW, Deonarine A, Jones JO, Denton AE, Feig C, Lyons SK, Espeli M, Kraman M, McKenna B, Wells RJ, Zhao Q, Caballero OL, Larder R, Coll AP, O'Rahilly S, Brindle KM, Teichmann SA, Tuveson DA, Fearon DT (2013), “Depletion of stromal cells expressing fibroblast activation protein-α from skeletal muscle and bone marrow results in cachexia and anemia.” J Exp Med 210(6):1137-51 Details

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, Pendleton N, Punab M, Silman AJ, Vanderschueren D, Lowe G, O'Rahilly S, Morris RW, Wu FC, Wannamethee SG, BRHS and EMAS Study Groups (2013), “Epidemiological evidence against a role for C-reactive protein causing leptin resistance.” Eur J Endocrinol 168(1):101-6 Details

Saxena R, Saleheen D, Been LF, Garavito ML, Braun T, Bjonnes A, Young R, Ho WK, Rasheed A, Frossard P, Sim X, Hassanali N, Radha V, Chidambaram M, Liju S, Rees SD, Ng DP, Wong TY, Yamauchi T, Hara K, Tanaka Y, Hirose H, McCarthy MI, Morris AP, DIAGRAM, MuTHER, AGEN, Basit A, Barnett AH, Katulanda P, Matthews D, Mohan V, Wander GS, Singh JR, Mehra NK, Ralhan S, Kamboh MI, Mulvihill JJ, Maegawa H, Tobe K, Maeda S, Cho YS, Tai ES, Kelly MA, Chambers JC, Kooner JS, Kadowaki T, Deloukas P, Rader DJ, Danesh J, Sanghera DK (2013), “Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.” Diabetes 62(5):1746-55 Details

Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL, UK10K, Knoers NV, Roepman R, Mitchison HM (2013), “Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.” J Med Genet 50(5):309-23 Details

Sim MF, Talukder MM, Dennis RJ, O'Rahilly S, Edwardson JM, Rochford JJ (2013), “Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms.” Diabetologia 56(11):2498-506 Details

Vimaleswaran KS, Berry DJ, Lu C, Tikkanen E, Pilz S, Hiraki LT, Cooper JD, Dastani Z, Li R, Houston DK, Wood AR, Michaëlsson K, Vandenput L, Zgaga L, Yerges-Armstrong LM, McCarthy MI, Dupuis J, Kaakinen M, Kleber ME, Jameson K, Arden N, Raitakari O, Viikari J, Lohman KK, Ferrucci L, Melhus H, Ingelsson E, Byberg L, Lind L, Lorentzon M, Salomaa V, Campbell H, Dunlop M, Mitchell BD, Herzig KH, Pouta A, Hartikainen AL, Genetic Investigation of Anthropometric Traits-GIANT Consortium, Streeten EA, Theodoratou E, Jula A, Wareham NJ, Ohlsson C, Frayling TM, Kritchevsky SB, Spector TD, Richards JB, Lehtimäki T, Ouwehand WH, Kraft P, Cooper C, März W, Power C, Loos RJ, Wang TJ, Järvelin MR, Whittaker JC, Hingorani AD, Hyppönen E (2013), “Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts.” PLoS Med 10(2):e1001383 Details

Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, 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 (2013), “An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.” Nat Genet 45(8):947-50 Details

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 (2013), “Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.” Nat Genet 45(5):513-7 Details

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, Song K, Hosking L, Richards DB, Fletcher PC, Bullmore ET (2013), “Effects of the mu-opioid receptor antagonist GSK1521498 on hedonic and consummatory eating behaviour: a proof of mechanism study in binge-eating obese subjects.” Mol Psychiatry 18(12):1287-93 Details


Bell JT, Tsai PC, Yang TP, Pidsley R, Nisbet J, Glass D, Mangino M, Zhai G, Zhang F, Valdes A, Shin SY, Dempster EL, Murray RM, Grundberg E, Hedman AK, Nica A, Small KS, MuTHER Consortium, Dermitzakis ET, McCarthy MI, Mill J, Spector TD, Deloukas P (2012), “Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population.” PLoS Genet 8(4):e1002629 Details

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, Berkowitz RI, Vimaleswaran KS, Jarick I, Pennell CE, Evans DM, St Pourcain B, Berry DJ, Mook-Kanamori DO, Hofman A, Rivadeneira F, Uitterlinden AG, van Duijn CM, van der Valk RJ, de Jongste JC, Postma DS, Boomsma DI, Gauderman WJ, Hassanein MT, Lindgren CM, Mägi R, Boreham CA, Neville CE, Moreno LA, Elliott P, Pouta A, Hartikainen AL, Li M, Raitakari O, Lehtimäki T, Eriksson JG, Palotie A, Dallongeville J, Das S, Deloukas P, McMahon G, Ring SM, Kemp JP, Buxton JL, Blakemore AI, Bustamante M, Guxens M, Hirschhorn JN, Gillman MW, Kreiner-Møller E, Bisgaard H, Gilliland FD, Heinrich J, Wheeler E, Barroso I, O'Rahilly S, Meirhaeghe A, Sørensen TI, Power C, Palmer LJ, Hinney A, Widen E, Farooqi IS, McCarthy MI, Froguel P, Meyre D, Hebebrand J, Jarvelin MR, Jaddoe VW, Smith GD, Hakonarson H, Grant SF, Early Growth Genetics Consortium (2012), “A genome-wide association meta-analysis identifies new childhood obesity loci.” Nat Genet 44(5):526-31 Details

Doche ME, Bochukova EG, Su HW, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S, Dale A, Cheetham T, Barroso I, Argetsinger LS, O'Rahilly S, Rui L, Carter-Su C, Farooqi IS (2012), “Human SH2B1 mutations are associated with maladaptive behaviors and obesity.” J Clin Invest 122(12):4732-6 Details

Fraterrigo G, Fabbrini E, Mittendorfer B, O'Rahilly S, Scherer PE, Patterson BW, Klein S (2012), “Relationship between Changes in Plasma Adiponectin Concentration and Insulin Sensitivity after Niacin Therapy.” Cardiorenal Med 2(3):211-217 Details

Grundberg E, Small KS, Hedman ÅK, Nica AC, Buil A, Keildson S, Bell JT, Yang TP, Meduri E, Barrett A, Nisbett J, Sekowska M, Wilk A, Shin SY, Glass D, Travers M, Min JL, Ring S, Ho K, Thorleifsson G, Kong A, Thorsteindottir U, Ainali C, Dimas AS, Hassanali N, Ingle C, Knowles D, Krestyaninova M, Lowe CE, Di Meglio P, Montgomery SB, Parts L, Potter S, Surdulescu G, Tsaprouni L, Tsoka S, Bataille V, Durbin R, Nestle FO, O'Rahilly S, Soranzo N, Lindgren CM, Zondervan KT, Ahmadi KR, Schadt EE, Stefansson K, Smith GD, McCarthy MI, Deloukas P, Dermitzakis ET, Spector TD, Multiple Tissue Human Expression Resource (MuTHER) Consortium (2012), “Mapping cis- and trans-regulatory effects across multiple tissues in twins.” Nat Genet 44(10):1084-9 Details

Larder R, O'Rahilly S (2012), “Shedding pounds after going under the knife: guts over glory-why diets fail.” Nat Med 18(5):666-7 Details

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 (2012), “Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.” Nat Genet 44(8):928-33 Details

Lowe CE, Dennis RJ, Obi U, O'Rahilly S, Rochford JJ (2012), “Investigating the involvement of the ATF6α pathway of the unfolded protein response in adipogenesis.” Int J Obes (Lond) 36(9):1248-51 Details

Ma M, Harding HP, O'Rahilly S, Ron D, Yeo GS (2012), “Kinetic analysis of FTO (fat mass and obesity-associated) reveals that it is unlikely to function as a sensor for 2-oxoglutarate.” Biochem J 444(2):183-7 Details

Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N, Chen H, Rybin D, Liu CT, Bielak LF, Prokopenko I, Amin N, Barnes D, Cadby G, Hottenga JJ, Ingelsson E, Jackson AU, Johnson T, Kanoni S, Ladenvall C, Lagou V, Lahti J, Lecoeur C, Liu Y, Martinez-Larrad MT, Montasser ME, Navarro P, Perry JR, Rasmussen-Torvik LJ, Salo P, Sattar N, Shungin D, Strawbridge RJ, Tanaka T, van Duijn CM, An P, de Andrade M, Andrews JS, Aspelund T, Atalay M, Aulchenko Y, Balkau B, Bandinelli S, Beckmann JS, Beilby JP, Bellis C, Bergman RN, Blangero J, Boban M, Boehnke M, Boerwinkle E, Bonnycastle LL, Boomsma DI, Borecki IB, Böttcher Y, Bouchard C, Brunner E, Budimir D, Campbell H, Carlson O, Chines PS, Clarke R, Collins FS, Corbatón-Anchuelo A, Couper D, de Faire U, Dedoussis GV, Deloukas P, Dimitriou M, Egan JM, Eiriksdottir G, Erdos MR, Eriksson JG, Eury E, Ferrucci L, Ford I, Forouhi NG, Fox CS, Franzosi MG, Franks PW, Frayling TM, Froguel P, Galan P, de Geus E, Gigante B, Glazer NL, Goel A, Groop L, Gudnason V, Hallmans G (2012), “A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.” Nat Genet 44(6):659-69 Details

Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME, UK10K Consortium, Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H (2012), “Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.” Am J Hum Genet 91(4):672-84 Details

Sim MF, Dennis RJ, Aubry EM, Ramanathan N, Sembongi H, Saudek V, Ito D, O'Rahilly S, Siniossoglou S, Rochford JJ (2012), “The human lipodystrophy protein seipin is an ER membrane adaptor for the adipogenic PA phosphatase lipin 1.” Mol Metab 2(1):38-46 Details

Sleigh A, Stears A, Thackray K, Watson L, Gambineri A, Nag S, Campi VI, Schoenmakers N, Brage S, Carpenter TA, Murgatroyd PR, O'Rahilly S, Kemp GJ, Savage DB (2012), “Mitochondrial oxidative phosphorylation is impaired in patients with congenital lipodystrophy.” J Clin Endocrinol Metab 97(3):E438-42 Details

Speakman JR, O'Rahilly S (2012), “Fat: an evolving issue.” Dis Model Mech 5(5):569-73 Details

Stears A, O'Rahilly S, Semple RK, Savage DB (2012), “Metabolic insights from extreme human insulin resistance phenotypes.” Best Pract Res Clin Endocrinol Metab 26(2):145-57 Details

Thong KY, Ryder RE, Cull ML, Walton C, ABCD Nationwide Exenatide and Liraglutide Audit Contributors (2012), “Insulin avoidance and treatment outcomes among patients with a professional driving licence starting glucagon-like peptide 1 (GLP-1) agonists in the Association of British Clinical Diabetologists (ABCD) nationwide exenatide and liraglutide audits.” Diabet Med 29(5):690-2 Details

Yeo GS, O'Rahilly S (2012), “Uncovering the biology of FTO.” Mol Metab 1(1-2):32-6 Details


Cho YS, Chen CH, Hu C, Long J, Ong RT, Sim X, Takeuchi F, Wu Y, Go MJ, Yamauchi T, Chang YC, Kwak SH, Ma RC, Yamamoto K, Adair LS, Aung T, Cai Q, Chang LC, Chen YT, Gao Y, Hu FB, Kim HL, Kim S, Kim YJ, Lee JJ, Lee NR, Li Y, Liu JJ, Lu W, Nakamura J, Nakashima E, Ng DP, Tay WT, Tsai FJ, Wong TY, Yokota M, Zheng W, Zhang R, Wang C, So WY, Ohnaka K, Ikegami H, Hara K, Cho YM, Cho NH, Chang TJ, Bao Y, Hedman ÅK, Morris AP, McCarthy MI, DIAGRAM Consortium, MuTHER Consortium, Takayanagi R, Park KS, Jia W, Chuang LM, Chan JC, Maeda S, Kadowaki T, Lee JY, Wu JY, Teo YY, Tai ES, Shu XO, Mohlke KL, Kato N, Han BG, Seielstad M (2011), “Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.” Nat Genet 44(1):67-72 Details

Corander MP, Rimmington D, Challis BG, O'Rahilly S, Coll AP (2011), “Loss of agouti-related peptide does not significantly impact the phenotype of murine POMC deficiency.” Endocrinology 152(5):1819-28 Details

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, Magré J, Savage DB, Vigouroux C (2011), “Perilipin deficiency and autosomal dominant partial lipodystrophy.” N Engl J Med 364(8):740-8 Details

Gandotra S, Lim K, Girousse A, Saudek V, O'Rahilly S, Savage DB (2011), “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).” J Biol Chem 286(40):34998-5006 Details

Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, Szekeres F, Krook A, Nolan JJ, O'Driscoll M, Bober M, O'Rahilly S, Jackson AP, Semple RK, Majewski Osteodysplastic Primordial Dwarfism Study Group (2011), “Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.” Diabetes 60(3):925-35 Details

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 (2011), “An activating mutation of AKT2 and human hypoglycemia.” Science 334(6055):474 Details

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, Vedantam S, Shin SY, Haritunians T, Fu M, Feitosa MF, Kumari M, Halldorsson BV, Tikkanen E, Mangino M, Hayward C, Song C, Arnold AM, Aulchenko YS, Oostra BA, Campbell H, Cupples LA, Davis KE, Döring A, Eiriksdottir G, Estrada K, Fernández-Real JM, Garcia M, Gieger C, Glazer NL, Guiducci C, Hofman A, Humphries SE, Isomaa B, Jacobs LC, Jula A, Karasik D, Karlsson MK, Khaw KT, Kim LJ, Kivimäki M, Klopp N, Kühnel B, Kuusisto J, Liu Y, Ljunggren O, Lorentzon M, Luben RN, McKnight B, Mellström D, Mitchell BD, Mooser V, Moreno JM, Männistö S, O'Connell JR, Pascoe L, Peltonen L, Peral B, Perola M, Psaty BM, Salomaa V, Savage DB, Semple RK, Skaric-Juric T, Sigurdsson G, Song KS, Spector TD, Syvänen AC, Talmud PJ, Thorleifsson G, Thorsteinsdottir U, Uitterlinden AG, van Duijn CM, Vidal-Puig A, Wild SH, Wright AF, Clegg DJ, Schadt E, Wilson JF, R (2011), “Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.” Nat Genet 43(8):753-60 Details

Lowe CE, O'Rahilly S, Rochford JJ (2011), “Adipogenesis at a glance.” J Cell Sci 124(Pt 16):2681-6 Details

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 (2011), “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.” J Clin Endocrinol Metab 96(1):E181-8 Details

Napolitano A, Murgatroyd PR, Finer N, Hussey EK, Dobbins R, O'Rahilly S, Nunez DJ (2011), “Assessment of acute and chronic pharmacological effects on energy expenditure and macronutrient oxidation in humans: responses to ephedrine.” J Obes 2011 Details

Nica AC, Parts L, Glass D, Nisbet J, Barrett A, Sekowska M, Travers M, Potter S, Grundberg E, Small K, Hedman AK, Bataille V, Tzenova Bell J, Surdulescu G, Dimas AS, Ingle C, Nestle FO, di Meglio P, Min JL, Wilk A, Hammond CJ, Hassanali N, Yang TP, Montgomery SB, O'Rahilly S, Lindgren CM, Zondervan KT, Soranzo N, Barroso I, Durbin R, Ahmadi K, Deloukas P, McCarthy MI, Dermitzakis ET, Spector TD, MuTHER Consortium (2011), “The architecture of gene regulatory variation across multiple human tissues: the MuTHER study.” PLoS Genet 7(2):e1002003 Details

O'Rahilly S (2011), “Translating metabolic biochemistry into the clinic: an interview with Steve O'Rahilly. Interview by Kathy Weston.” Dis Model Mech 4(2):141-4 Details

Parker VE, Savage DB, O'Rahilly S, Semple RK (2011), “Mechanistic insights into insulin resistance in the genetic era.” Diabet Med 28(12):1476-86 Details

Prieur X, Mok CY, Velagapudi VR, Núñez V, Fuentes L, Montaner D, Ishikawa K, Camacho A, Barbarroja N, O'Rahilly S, Sethi JK, Dopazo J, Orešič M, Ricote M, Vidal-Puig A (2011), “Differential lipid partitioning between adipocytes and tissue macrophages modulates macrophage lipotoxicity and M2/M1 polarization in obese mice.” Diabetes 60(3):797-809 Details

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, O'Rahilly S, Barroso I, Semple RK (2011), “Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient.” Front Endocrinol (Lausanne) 2:8 Details

Raffan E, Soos MA, Rocha N, Tuthill A, Thomsen AR, Hyden CS, Gregory JW, Hindmarsh P, Dattani M, Cochran E, Al Kaabi J, Gorden P, Barroso I, Morling N, O'Rahilly S, Semple RK (2011), “Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.” Diabetologia 54(5):1057-65 Details

Semple RK, Savage DB, Cochran EK, Gorden P, O'Rahilly S (2011), “Genetic syndromes of severe insulin resistance.” Endocr Rev 32(4):498-514 Details

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, Semple RK, Savage DB (2011), “Mitochondrial dysfunction in patients with primary congenital insulin resistance.” J Clin Invest 121(6):2457-61 Details

Small KS, Hedman AK, Grundberg E, Nica AC, Thorleifsson G, Kong A, Thorsteindottir U, Shin SY, Richards HB, GIANT Consortium, MAGIC Investigators, DIAGRAM Consortium, Soranzo N, Ahmadi KR, Lindgren CM, Stefansson K, Dermitzakis ET, Deloukas P, Spector TD, McCarthy MI, MuTHER Consortium (2011), “Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes.” Nat Genet 43(6):561-4 Details

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, Luckman S, Luke A, Mohammed-Ali V, O'Rahilly S, Pereira M, Perusse L, Robinson TN, Rolls B, Symonds ME, Westerterp-Plantenga MS (2011), “Set points, settling points and some alternative models: theoretical options to understand how genes and environments combine to regulate body adiposity.” Dis Model Mech 4(6):733-45 Details

Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, Palmer CD, Gudnason V, Eiriksdottir G, Garcia ME, Launer LJ, Nalls MA, Clark JM, Mitchell BD, Shuldiner AR, Butler JL, Tomas M, Hoffmann U, Hwang SJ, Massaro JM, O'Donnell CJ, Sahani DV, Salomaa V, Schadt EE, Schwartz SM, Siscovick DS, NASH CRN, GIANT Consortium, MAGIC Investigators, Voight BF, Carr JJ, Feitosa MF, Harris TB, Fox CS, Smith AV, Kao WH, Hirschhorn JN, Borecki IB, GOLD Consortium (2011), “Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.” PLoS Genet 7(3):e1001324 Details

Strawbridge RJ, Dupuis J, Prokopenko I, Barker A, Ahlqvist E, Rybin D, Petrie JR, Travers ME, Bouatia-Naji N, Dimas AS, Nica A, Wheeler E, Chen H, Voight BF, Taneera J, Kanoni S, Peden JF, Turrini F, Gustafsson S, Zabena C, Almgren P, Barker DJ, Barnes D, Dennison EM, Eriksson JG, Eriksson P, Eury E, Folkersen L, Fox CS, Frayling TM, Goel A, Gu HF, Horikoshi M, Isomaa B, Jackson AU, Jameson KA, Kajantie E, Kerr-Conte J, Kuulasmaa T, Kuusisto J, Loos RJ, Luan J, Makrilakis K, Manning AK, Martínez-Larrad MT, Narisu N, Nastase Mannila M, Ohrvik J, Osmond C, Pascoe L, Payne F, Sayer AA, Sennblad B, Silveira A, Stancáková A, Stirrups K, Swift AJ, Syvänen AC, Tuomi T, van 't Hooft FM, Walker M, Weedon MN, Xie W, Zethelius B, DIAGRAM Consortium, GIANT Consortium, MuTHER Consortium, CARDIoGRAM Consortium, C4D Consortium, Ongen H, Mälarstig A, Hopewell JC, Saleheen D, Chambers J, Parish S, Danesh J, Kooner J, Ostenson CG, Lind L, Cooper CC, Serrano-Ríos M, Ferrannini E, Forsen TJ, Clarke R, Franzosi MG, Seedorf U, Wa (2011), “Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.” Diabetes 60(10):2624-34 Details


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 (2010), “Large, rare chromosomal deletions associated with severe early-onset obesity.” Nature 463(7281):666-70 Details

Boiani R, Cinti S, Savage DB, Vidal-Puig A, O'Rahilly S (2010), “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.” Nutr Metab Cardiovasc Dis 20(3):e11-2 Details

Corander MP, Challis BG, Thompson EL, Jovanovic Z, Loraine Tung YC, Rimmington D, Huhtaniemi IT, Murphy KG, Topaloglu AK, Yeo GS, O'Rahilly S, Dhillo WS, Semple RK, Coll AP (2010), “The effects of neurokinin B upon gonadotrophin release in male rodents.” J Neuroendocrinol 22(3):181-7 Details

Dash S, Langenberg C, Fawcett KA, Semple RK, Romeo S, Sharp S, Sano H, Lienhard GE, Rochford JJ, Howlett T, Massoud AF, Hindmarsh P, Howell SJ, Wilkinson RJ, Lyssenko V, Groop L, Baroni MG, Barroso I, Wareham NJ, O'Rahilly S, Savage DB (2010), “Analysis of TBC1D4 in patients with severe insulin resistance.” Diabetologia 53(6):1239-42 Details

Fletcher PC, Napolitano A, Skeggs A, Miller SR, Delafont B, Cambridge VC, de Wit S, Nathan PJ, Brooke A, O'Rahilly S, Farooqi IS, Bullmore ET (2010), “Distinct modulatory effects of satiety and sibutramine on brain responses to food images in humans: a double dissociation across hypothalamus, amygdala, and ventral striatum.” J Neurosci 30(43):14346-55 Details

Huang-Doran I, Sleigh A, Rochford JJ, O'Rahilly S, Savage DB (2010), “Lipodystrophy: metabolic insights from a rare disorder.” J Endocrinol 207(3):245-55 Details

Jovanovic Z, Tung YC, Lam BY, O'Rahilly S, Yeo GS (2010), “Identification of the global transcriptomic response of the hypothalamic arcuate nucleus to fasting and leptin.” J Neuroendocrinol 22(8):915-25 Details

Kirk J, Porter KM, Parker V, Barroso I, O'Rahilly S, Hendriksz C, Semple RK (2010), “Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.” J Inherit Metab Dis 33 Suppl 3:S227-32 Details

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, Saudek V, O'Rahilly S, Froguel P, Sedgwick B, Yeo GS (2010), “Prevalence of loss-of-function FTO mutations in lean and obese individuals.” Diabetes 59(1):311-8 Details

Regan FM, Williams RM, McDonald A, Umpleby AM, Acerini CL, O'Rahilly S, Hovorka R, Semple RK, Dunger DB (2010), “Treatment with recombinant human insulin-like growth factor (rhIGF)-I/rhIGF binding protein-3 complex improves metabolic control in subjects with severe insulin resistance.” J Clin Endocrinol Metab 95(5):2113-22 Details

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 (2010), “Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indices of hepatic injury in individuals of European descent.” Int J Obes (Lond) 34(1):190-4 Details

Savage DB, O'Rahilly S (2010), “Leptin therapy in lipodystrophy.” Diabetologia 53(1):7-9 Details

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, Heid IM, Steinthorsdottir V, Stringham HM, Weedon MN, Wheeler E, Wood AR, Ferreira T, Weyant RJ, Segrè AV, Estrada K, Liang L, Nemesh J, Park JH, Gustafsson S, Kilpeläinen TO, Yang J, Bouatia-Naji N, Esko T, Feitosa MF, Kutalik Z, Mangino M, Raychaudhuri S, Scherag A, Smith AV, Welch R, Zhao JH, Aben KK, Absher DM, Amin N, Dixon AL, Fisher E, Glazer NL, Goddard ME, Heard-Costa NL, Hoesel V, Hottenga JJ, Johansson A, Johnson T, Ketkar S, Lamina C, Li S, Moffatt MF, Myers RH, Narisu N, Perry JR, Peters MJ, Preuss M, Ripatti S, Rivadeneira F, Sandholt C, Scott LJ, Timpson NJ, Tyrer JP, van Wingerden S, Watanabe RM, White CC, Wiklund F, Barlassina C, Chasman DI, Cooper MN, Jansson JO, Lawrence RW, Pellikka N, Prokopenko I, Shi J, Thiering E, Alavere H, Alibrandi MT, Almgren P, Arnold AM, Aspelund T, Atwood LD, Balkau B, Balmforth AJ, Bennet (2010), “Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.” Nat Genet 42(11):937-48 Details

Tschöp J, Nogueiras R, Haas-Lockie S, Kasten KR, Castañeda TR, Huber N, Guanciale K, Perez-Tilve D, Habegger K, Ottaway N, Woods SC, Oldfield B, Clarke I, Chua S Jr, Farooqi IS, O'Rahilly S, Caldwell CC, Tschöp MH (2010), “CNS leptin action modulates immune response and survival in sepsis.” J Neurosci 30(17):6036-47 Details

Tung YC, Ayuso E, Shan X, Bosch F, O'Rahilly S, Coll AP, Yeo GS (2010), “Hypothalamic-specific manipulation of Fto, the ortholog of the human obesity gene FTO, affects food intake in rats.” PLoS One 5(1):e8771 Details

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, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, (2010), “A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.” Nature 463(7281):671-5 Details


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, O'Rahilly S, Munnich A, Colleaux L (2009), “Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.” Am J Hum Genet 85(1):106-11 Details

Bottomley WE, Soos MA, Adams C, Guran T, Howlett TA, Mackie A, Miell J, Monson JP, Temple R, Tenenbaum-Rakover Y, Tymms J, Savage DB, Semple RK, O'Rahilly S, Barroso I (2009), “IRS2 variants and syndromes of severe insulin resistance.” Diabetologia 52(6):1208-11 Details

Boyle KB, Hadaschik D, Virtue S, Cawthorn WP, Ridley SH, O'Rahilly S, Siddle K (2009), “The transcription factors Egr1 and Egr2 have opposing influences on adipocyte differentiation.” Cell Death Differ 16(5):782-9 Details

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, Lienhard GE, O'Rahilly S, Savage DB (2009), “A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.” Proc Natl Acad Sci U S A 106(23):9350-5 Details

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, Blakemore AI (2009), “A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.” Hum Mol Genet 18(17):3257-65 Details

Farooqi IS, O'Rahilly S (2009), “Leptin: a pivotal regulator of human energy homeostasis.” Am J Clin Nutr 89(3):980S-984S Details

Figueroa KP, Farooqi S, Harrup K, Frank J, O'Rahilly S, Pulst SM (2009), “Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity.” PLoS One 4(12):e8280 Details

Finucane FM, Luan J, Wareham NJ, Sharp SJ, O'Rahilly S, Balkau B, Flyvbjerg A, Walker M, Højlund K, Nolan JJ, European Group for the Study of Insulin Resistance: Relationship between Insulin Sensitivity and Cardiovascular Disease Risk Study Group), Savage DB (2009), “Correlation of the leptin:adiponectin ratio with measures of insulin resistance in non-diabetic individuals.” Diabetologia 52(11):2345-9 Details

Greenfield JR, Miller JW, Keogh JM, Henning E, Satterwhite JH, Cameron GS, Astruc B, Mayer JP, Brage S, See TC, Lomas DJ, O'Rahilly S, Farooqi IS (2009), “Modulation of blood pressure by central melanocortinergic pathways.” N Engl J Med 360(1):44-52 Details

Greenfield JR, Tuthill A, Soos MA, Semple RK, Halsall DJ, Chaudhry A, O'Rahilly S (2009), “Severe insulin resistance due to anti-insulin antibodies: response to plasma exchange and immunosuppressive therapy.” Diabet Med 26(1):79-82 Details

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, Topaloglu AK (2009), “Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.” J Clin Endocrinol Metab 94(10):3633-9 Details

Kis A, Murdoch C, Zhang M, Siva A, Rodriguez-Cuenca S, Carobbio S, Lukasik A, Blount M, O'Rahilly S, Gray SL, Shah AM, Vidal-Puig A (2009), “Defective peroxisomal proliferators activated receptor gamma activity due to dominant-negative mutation synergizes with hypertension to accelerate cardiac fibrosis in mice.” Eur J Heart Fail 11(6):533-41 Details

O'Rahilly S (2009), “Human genetics illuminates the paths to metabolic disease.” Nature 462(7271):307-14 Details

Payne VA, Au WS, Lowe CE, Rahman SM, Friedman JE, O'Rahilly S, Rochford JJ (2009), “C/EBP transcription factors regulate SREBP1c gene expression during adipogenesis.” Biochem J 425(1):215-23 Details

Richards JB, Waterworth D, O'Rahilly S, Hivert MF, Loos RJ, Perry JR, Tanaka T, Timpson NJ, Semple RK, Soranzo N, Song K, Rocha N, Grundberg E, Dupuis J, Florez JC, Langenberg C, Prokopenko I, Saxena R, Sladek R, Aulchenko Y, Evans D, Waeber G, Erdmann J, Burnett MS, Sattar N, Devaney J, Willenborg C, Hingorani A, Witteman JC, Vollenweider P, Glaser B, Hengstenberg C, Ferrucci L, Melzer D, Stark K, Deanfield J, Winogradow J, Grassl M, Hall AS, Egan JM, Thompson JR, Ricketts SL, König IR, Reinhard W, Grundy S, Wichmann HE, Barter P, Mahley R, Kesaniemi YA, Rader DJ, Reilly MP, Epstein SE, Stewart AF, Van Duijn CM, Schunkert H, Burling K, Deloukas P, Pastinen T, Samani NJ, McPherson R, Davey Smith G, Frayling TM, Wareham NJ, Meigs JB, Mooser V, Spector TD, GIANT Consortium (2009), “A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.” PLoS Genet 5(12):e1000768 Details

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, Suliman S, Patch AM, Agarwal AK, Garg A, Barroso I, Cinti S, Czech MP, Argente J, O'Rahilly S, Savage DB, LD Screening Consortium (2009), “Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.” EMBO Mol Med 1(5):280-7 Details

Savage DB, Semple RK, Clatworthy MR, Lyons PA, Morgan BP, Cochran EK, Gorden P, Raymond-Barker P, Murgatroyd PR, Adams C, Scobie I, Mufti GJ, Alexander GJ, Thiru S, Murano I, Cinti S, Chaudhry AN, Smith KG, O'Rahilly S (2009), “Complement abnormalities in acquired lipodystrophy revisited.” J Clin Endocrinol Metab 94(1):10-6 Details

Semple R, Savage DB, O'Rahilly S (2009), “Sex hormone-binding globulin and risk of type 2 diabetes.” N Engl J Med 361(27):2677; author reply 2677-8 Details

Semple RK, Sleigh A, Murgatroyd PR, Adams CA, Bluck L, Jackson S, Vottero A, Kanabar D, Charlton-Menys V, Durrington P, Soos MA, Carpenter TA, Lomas DJ, Cochran EK, Gorden P, O'Rahilly S, Savage DB (2009), “Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.” J Clin Invest 119(2):315-22 Details

Tan K, Pogozheva ID, Yeo GS, Hadaschik D, Keogh JM, Haskell-Leuvano C, O'Rahilly S, Mosberg HI, Farooqi IS (2009), “Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.” Endocrinology 150(1):114-25 Details

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 (2009), “TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.” Nat Genet 41(3):354-8 Details

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, Qi L, Randall JC, Roccasecca RM, Sanna S, Scheet P, Weedon MN, Wheeler E, Zhao JH, Jacobs LC, Prokopenko I, Soranzo N, Tanaka T, Timpson NJ, Almgren P, Bennett A, Bergman RN, Bingham SA, Bonnycastle LL, Brown M, Burtt NP, Chines P, Coin L, Collins FS, Connell JM, Cooper C, Smith GD, Dennison EM, Deodhar P, Elliott P, Erdos MR, Estrada K, Evans DM, Gianniny L, Gieger C, Gillson CJ, Guiducci C, Hackett R, Hadley D, Hall AS, Havulinna AS, Hebebrand J, Hofman A, Isomaa B, Jacobs KB, Johnson T, Jousilahti P, Jovanovic Z, Khaw KT, Kraft P, Kuokkanen M, Kuusisto J, Laitinen J, Lakatta EG, Luan J, Luben RN, Mangino M, McArdle WL, Meitinger T, Mulas A, Munroe PB, Narisu N, Ness AR, Northstone K, O'Rahilly S, Purmann C, Rees MG, Ridderstråle M, Ring SM, Rivadeneira F, Ruokonen A, Sandhu MS, Saramies J, Scott LJ, Scuteri A, Silander K, Sims MA, Song K, Stephens (2009), “Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.” Nat Genet 41(1):25-34 Details


Au WS, Payne VA, O'Rahilly S, Rochford JJ (2008), “The NR4A family of orphan nuclear receptors are not required for adipogenesis.” Int J Obes (Lond) 32(2):388-92 Details

Coll AP, Yeo GS, Farooqi IS, O'Rahilly S (2008), “SnapShot: the hormonal control of food intake.” Cell 135(3):572.e1-2 Details

Creemers JW, Lee YS, Oliver RL, Bahceci M, Tuzcu A, Gokalp D, Keogh J, Herber S, White A, O'Rahilly S, Farooqi IS (2008), “Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway.” J Clin Endocrinol Metab 93(11):4494-9 Details

Farooqi IS, O'Rahilly S (2008), “Mutations in ligands and receptors of the leptin-melanocortin pathway that lead to obesity.” Nat Clin Pract Endocrinol Metab 4(10):569-77 Details

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 (2008), “Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations.” Diabetes 57(9):2527-33 Details

Gambineri A, Semple RK, Forlani G, Genghini S, Grassi I, Hyden CS, Pagotto U, O'Rahilly S, Pasquali R (2008), “Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin.” Eur J Endocrinol 159(3):347-53 Details

Kim CA, Delépine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J, Lathrop M, Magré J (2008), “Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.” J Clin Endocrinol Metab 93(4):1129-34 Details

Kimber W, Peelman F, Prieur X, Wangensteen T, O'Rahilly S, Tavernier J, Farooqi IS (2008), “Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor.” Endocrinology 149(12):6043-52 Details

Lam DD, Przydzial MJ, Ridley SH, Yeo GS, Rochford JJ, O'Rahilly S, Heisler LK (2008), “Serotonin 5-HT2C receptor agonist promotes hypophagia via downstream activation of melanocortin 4 receptors.” Endocrinology 149(3):1323-8 Details

Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt SI, Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, Jacobs KB, Chanock SJ, Hayes RB, Bergmann S, Bennett AJ, Bingham SA, Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Smith GD, Day I, Dina C, De S, Dermitzakis ET, Doney AS, Elliott KS, Elliott P, Evans DM, Sadaf Farooqi I, Froguel P, Ghori J, Groves CJ, Gwilliam R, Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid IM, KORA, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE, Herrera B, Hinney A, Hunt SE, Jarvelin MR, Johnson T, Jolley JD, Karpe F, Keniry A, Khaw KT, Luben RN, Mangino M, Marchini J, McArdle WL, McGinnis R, Meyre D, Munroe PB, Morris AD, Ness AR, Neville MJ, Nica AC, Ong KK, O'Rahilly S, Owen KR, Palmer CN, Papadakis K, Potter S, Pouta A, Qi L, Nurses' Health Study, Randall JC, Rayner NW, Ring SM, Sandhu MS, Scherag A, Sims MA, Song K, Soranzo N, Speliotes EK, Diabetes Genetics Initiative, Syddall (2008), “Common variants near MC4R are associated with fat mass, weight and risk of obesity.” Nat Genet 40(6):768-75 Details

O'Rahilly S, Farooqi IS (2008), “Human obesity as a heritable disorder of the central control of energy balance.” Int J Obes (Lond) 32 Suppl 7:S55-61 Details

O'Rahilly S, Farooqi IS (2008), “Human obesity: a heritable neurobehavioral disorder that is highly sensitive to environmental conditions.” Diabetes 57(11):2905-10 Details

O'Rahilly S, Weir GC, Matthews DR (2008), “An appreciation of Robert Turner.” Diabetes 57(11):2918-21 Details

Payne VA, Grimsey N, Tuthill A, Virtue S, Gray SL, Dalla Nora E, Semple RK, O'Rahilly S, Rochford JJ (2008), “The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation.” Diabetes 57(8):2055-60 Details

Prieur X, Tung YC, Griffin JL, Farooqi IS, O'Rahilly S, Coll AP (2008), “Leptin regulates peripheral lipid metabolism primarily through central effects on food intake.” Endocrinology 149(11):5432-9 Details

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, Danoff T, Moore NR, Murgatroyd P, O'Rahilly S, Sutton P, Willson T, Hassall D, Frayn KN, Karpe F (2008), “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(2):332-9 Details

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, Shulman GI, Karpe F, Taylor R, Pederson BA, Roach PJ, O'Rahilly S, DePaoli-Roach AA (2008), “A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice.” PLoS Med 5(1):e27 Details

Semple RK, Cochran EK, Soos MA, Burling KA, Savage DB, Gorden P, O'Rahilly S (2008), “Plasma adiponectin as a marker of insulin receptor dysfunction: clinical utility in severe insulin resistance.” Diabetes Care 31(5):977-9 Details

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 (2008), “Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.” Diabetes 57(9):2511-8 Details

Tan GD, Savage DB, Fielding BA, Collins J, Hodson L, Humphreys SM, O'Rahilly S, Chatterjee K, Frayn KN, Karpe F (2008), “Fatty acid metabolism in patients with PPARgamma mutations.” J Clin Endocrinol Metab 93(11):4462-70 Details

Tung YC, Ma M, Piper S, Coll A, O'Rahilly S, Yeo GS (2008), “Novel leptin-regulated genes revealed by transcriptional profiling of the hypothalamic paraventricular nucleus.” J Neurosci 28(47):12419-26 Details

Vimaleswaran KS, Luan J, Andersen G, Muller YL, Wheeler E, Brito EC, O'Rahilly S, Pedersen O, Baier LJ, Knowler WC, Barroso I, Wareham NJ, Loos RJ, Franks PW (2008), “The Gly482Ser genotype at the PPARGC1A gene and elevated blood pressure: a meta-analysis involving 13,949 individuals.” J Appl Physiol (1985) 105(4):1352-8 Details

Wardle J, Carnell S, Haworth CM, Farooqi IS, O'Rahilly S, Plomin R (2008), “Obesity associated genetic variation in FTO is associated with diminished satiety.” J Clin Endocrinol Metab 93(9):3640-3 Details


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 (2007), “Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity.” Diabetes 56(5):1341-9 Details

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 (2007), “Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.” Hum Mutat 28(3):294-302 Details

Brown M, Boon N, Brooks N, Brown E, Camm J, Caulfield M, Chilvers E, Gibson J, Griffin G, Grossman A, Hall A, Hart G, Heagerty T, Home P, Hodgson H, Horton R, Hughes R, Khaw KT, Lazarus J, Leaper D, McCollum P, Monson J, O'Rahilly S, Rowlands B, Scott J, Sutton R, Taylor R, Watkins H, Wright N (2007), “Modernising medical careers, medical training application service, and the postgraduate medical education and training board: time for the emperors to don their clothes.” Lancet 369(9566):967-8 Details

Brown M, Boon N, Brooks N, Camm J, Corris P, Caulfield M, Chilvers E, Ewan P, Gibson J, Griffin G, Grossman A, Hall A, Hart G, Heagerty T, Hodgson H, Home P, Hughes R, Khaw KT, Lazarus J, Leaper D, Monson J, O'Rahilly S, Rowlands B, Scolding N, Sutton R, Taylor R, Watkins H, Wright N (2007), “Medical training in the UK: sleepwalking to disaster.” Lancet 369(9574):1673-5 Details

Coelho R, Wells J, Symth J, Semple R, O'Rahilly S, Eaton S, Hussain K (2007), “Severe hypoinsulinaemic hypoglycaemia in a premature infant associated with poor weight gain and reduced adipose tissue.” Horm Res 68(2):91-8 Details

Coll AP, Farooqi IS, O'Rahilly S (2007), “The hormonal control of food intake.” Cell 129(2):251-62 Details

Collins SC, Luan J, Thompson AJ, Daly A, Semple RK, O'Rahilly S, Wareham NJ, Barroso I (2007), “Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations.” Diabetologia 50(3):555-62 Details

Farooqi IS, Bullmore E, Keogh J, Gillard J, O'Rahilly S, Fletcher PC (2007), “Leptin regulates striatal regions and human eating behavior.” Science 317(5843):1355 Details

Farooqi IS, O'Rahilly S (2007), “Genetic factors in human obesity.” Obes Rev 8 Suppl 1:37-40 Details

Farooqi IS, O'Rahilly S (2007), “Is leptin an important physiological regulator of CRP?” Nat Med 13(1):16-7; author reply 19-21 Details

Farooqi IS, Volders K, Stanhope R, Heuschkel R, White A, Lank E, Keogh J, O'Rahilly S, Creemers JW (2007), “Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.” J Clin Endocrinol Metab 92(9):3369-73 Details

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 (2007), “Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.” N Engl J Med 356(3):237-47 Details

Franks PW, Ekelund U, Brage S, Luan J, Schafer AJ, O'Rahilly S, Barroso I, Wareham NJ (2007), “PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge.” Diabetologia 50(3):569-73 Details

Franks PW, Loos RJ, Brage S, O'Rahilly S, Wareham NJ, Ekelund U (2007), “Physical activity energy expenditure may mediate the relationship between plasma leptin levels and worsening insulin resistance independently of adiposity.” J Appl Physiol (1985) 102(5):1921-6 Details

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, Ma M, Jovanovic Z, Farooqi IS, Sedgwick B, Barroso I, Lindahl T, Ponting CP, Ashcroft FM, O'Rahilly S, Schofield CJ (2007), “The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase.” Science 318(5855):1469-72 Details

Gray J, Yeo G, Hung C, Keogh J, Clayton P, Banerjee K, McAulay A, O'Rahilly S, Farooqi IS (2007), “Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity.” Int J Obes (Lond) 31(2):359-64 Details

Gueorguiev M, Wiltshire S, Garcia EA, Mein C, Lecoeur C, Kristen B, Allotey R, Hattersley AT, Walker M, O'rahilly S, Froguel P, Grossman AB, McCarthy MI, Hitman GA, Korbonits M (2007), “Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes.” J Clin Endocrinol Metab 92(6):2201-4 Details

Halsall DJ, Mangi M, Soos M, Fahie-Wilson MN, Wark G, Mainwaring-Burton R, O'Rahilly S (2007), “Hypoglycemia due to an insulin binding antibody in a patient with an IgA-kappa myeloma.” J Clin Endocrinol Metab 92(6):2013-6 Details

Heisler LK, Pronchuk N, Nonogaki K, Zhou L, Raber J, Tung L, Yeo GS, O'Rahilly S, Colmers WF, Elmquist JK, Tecott LH (2007), “Serotonin activates the hypothalamic-pituitary-adrenal axis via serotonin 2C receptor stimulation.” J Neurosci 27(26):6956-64 Details

Hung CC, Luan J, Sims M, Keogh JM, Hall C, Wareham NJ, O'Rahilly S, Farooqi IS (2007), “Studies of the SIM1 gene in relation to human obesity and obesity-related traits.” Int J Obes (Lond) 31(3):429-34 Details

Loos RJ, Barroso I, O'rahilly S, Wareham NJ (2007), “Comment on "A common genetic variant is associated with adult and childhood obesity".” Science 315(5809):187; author reply 187 Details

Loos RJ, Franks PW, Francis RW, Barroso I, Gribble FM, Savage DB, Ong KK, O'Rahilly S, Wareham NJ (2007), “TCF7L2 polymorphisms modulate proinsulin levels and beta-cell function in a British Europid population.” Diabetes 56(7):1943-7 Details

López M, Lage R, Tung YC, Challis BG, Varela L, Virtue S, O'Rahilly S, Vidal-Puig A, Diéguez C, Coll AP (2007), “Orexin expression is regulated by alpha-melanocyte-stimulating hormone.” J Neuroendocrinol 19(9):703-7 Details

Mesa JL, Loos RJ, Franks PW, Ong KK, Luan J, O'Rahilly S, Wareham NJ, Barroso I (2007), “Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies.” Diabetes 56(3):884-9 Details

Michailidou Z, Coll AP, Kenyon CJ, Morton NM, O'Rahilly S, Seckl JR, Chapman KE (2007), “Peripheral mechanisms contributing to the glucocorticoid hypersensitivity in proopiomelanocortin null mice treated with corticosterone.” J Endocrinol 194(1):161-70 Details

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 (2007), “The central melanocortin system directly controls peripheral lipid metabolism.” J Clin Invest 117(11):3475-88 Details

O'Rahilly S (2007), “Human obesity and insulin resistance: lessons from experiments of nature.” Novartis Found Symp 286:13-20; discussion 20-3, 162-3, 196-203 Details

O'Rahilly S (2007), “Human obesity and insulin resistance: lessons from experiments of nature.” Biochem Soc Trans 35(Pt 1):33-6 Details

Payne VA, Au WS, Gray SL, Nora ED, Rahman SM, Sanders R, Hadaschik D, Friedman JE, O'rahilly S, Rochford JJ (2007), “Sequential regulation of diacylglycerol acyltransferase 2 expression by CAAT/enhancer-binding protein beta (C/EBPbeta) and C/EBPalpha during adipogenesis.” J Biol Chem 282(29):21005-14 Details

Savage DB, Semple RK, Chatterjee VK, Wales JK, Ross RJ, O'Rahilly S (2007), “A clinical approach to severe insulin resistance.” Endocr Dev 11:122-32 Details

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 (2007), “Paradoxical elevation of high-molecular weight adiponectin in acquired extreme insulin resistance due to insulin receptor antibodies.” Diabetes 56(6):1712-7 Details

Tan K, Kimber WA, Luan J, Soos MA, Semple RK, Wareham NJ, O'Rahilly S, Barroso I (2007), “Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes.” Diabetes 56(3):714-9 Details

Tung YC, Rimmington D, O'Rahilly S, Coll AP (2007), “Pro-opiomelanocortin modulates the thermogenic and physical activity responses to high-fat feeding and markedly influences dietary fat preference.” Endocrinology 148(11):5331-8 Details

Tuthill A, Semple RK, Day R, Soos MA, Sweeney E, Seymour PJ, Didi M, O'rahilly S (2007), “Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.” Clin Endocrinol (Oxf) 66(1):21-6 Details

Young EH, Wareham NJ, Farooqi S, Hinney A, Hebebrand J, Scherag A, O'rahilly S, Barroso I, Sandhu MS (2007), “The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals.” Int J Obes (Lond) 31(9):1437-41 Details


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, Marais D, Schwabe J, Barroso I, Trembath R, Wareham N, Nagy L, Gurnell M, O'Rahilly S, Chatterjee K (2006), “Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.” Cell Metab 4(4):303-11 Details

Barroso I, Luan J, Sandhu MS, Franks PW, Crowley V, Schafer AJ, O'Rahilly S, Wareham NJ (2006), “Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes.” Diabetologia 49(3):501-5 Details

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 (2006), “Sequence variants in the melatonin-related receptor gene (GPR50) associate with circulating triglyceride and HDL levels.” J Lipid Res 47(4):761-6 Details

Cai G, Cole SA, Butte N, Bacino C, Diego V, Tan K, Göring HH, O'Rahilly S, Farooqi IS, Comuzzie AG (2006), “A quantitative trait locus on chromosome 18q for physical activity and dietary intake in Hispanic children.” Obesity (Silver Spring) 14(9):1596-604 Details

Christodoulides C, Laudes M, Cawthorn WP, Schinner S, Soos M, O'Rahilly S, Sethi JK, Vidal-Puig A (2006), “The Wnt antagonist Dickkopf-1 and its receptors are coordinately regulated during early human adipogenesis.” J Cell Sci 119(Pt 12):2613-20 Details

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 (2006), “WNT10B mutations in human obesity.” Diabetologia 49(4):678-84 Details

Coll AP, Fassnacht M, Klammer S, Hahner S, Schulte DM, Piper S, Tung YC, Challis BG, Weinstein Y, Allolio B, O'Rahilly S, Beuschlein F (2006), “Peripheral administration of the N-terminal pro-opiomelanocortin fragment 1-28 to Pomc-/- mice reduces food intake and weight but does not affect adrenal growth or corticosterone production.” J Endocrinol 190(2):515-25 Details

Farooqi IS, Drop S, Clements A, Keogh JM, Biernacka J, Lowenbein S, Challis BG, O'Rahilly S (2006), “Heterozygosity for a POMC-null mutation and increased obesity risk in humans.” Diabetes 55(9):2549-53 Details

Farooqi S, O'Rahilly S (2006), “Genetics of obesity in humans.” Endocr Rev 27(7):710-18 Details

Fawcett KA, Wareham NJ, Luan J, Syddall H, Cooper C, O'Rahilly S, Day IN, Sandhu MS, Barroso I (2006), “PARL Leu262Val is not associated with fasting insulin levels in UK populations.” Diabetologia 49(11):2649-52 Details

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 (2006), “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(12):3366-71 Details

Gray SL, Dalla Nora E, Backlund EC, Manieri M, Virtue S, Noland RC, O'Rahilly S, Cortright RN, Cinti S, Cannon B, Vidal-Puig A (2006), “Decreased brown adipocyte recruitment and thermogenic capacity in mice with impaired peroxisome proliferator-activated receptor (P465L PPARgamma) function.” Endocrinology 147(12):5708-14 Details

Gray SL, Nora ED, Grosse J, Manieri M, Stoeger T, Medina-Gomez G, Burling K, Wattler S, Russ A, Yeo GS, Chatterjee VK, O'Rahilly S, Voshol PJ, Cinti S, Vidal-Puig A (2006), “Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor gamma function (P465L PPARgamma) in mice.” Diabetes 55(10):2669-77 Details

Groves CJ, Zeggini E, Walker M, Hitman GA, Levy JC, O'Rahilly S, Hattersley AT, McCarthy MI, Wiltshire S (2006), “Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate.” Diabetes 55(6):1884-9 Details

Harding AH, Loos RJ, Luan J, O'Rahilly S, Wareham NJ, Barroso I (2006), “Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes.” Diabetologia 49(11):2642-8 Details

Jensen J, Jebens E, Brennesvik EO, Ruzzin J, Soos MA, Engebretsen EM, O'Rahilly S, Whitehead JP (2006), “Muscle glycogen inharmoniously regulates glycogen synthase activity, glucose uptake, and proximal insulin signaling.” Am J Physiol Endocrinol Metab 290(1):E154-E162 Details

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, Blackwood A, Hung CC, Wareham NJ, Froguel P, Millhauser GL, O'Rahilly S, Farooqi IS (2006), “A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.” Cell Metab 3(2):135-40 Details

López M, Lelliott CJ, Tovar S, Kimber W, Gallego R, Virtue S, Blount M, Vázquez MJ, Finer N, Powles TJ, O'Rahilly S, Saha AK, Diéguez C, Vidal-Puig AJ (2006), “Tamoxifen-induced anorexia is associated with fatty acid synthase inhibition in the ventromedial nucleus of the hypothalamus and accumulation of malonyl-CoA.” Diabetes 55(5):1327-36 Details

Mellanby RJ, Mellor P, Villiers EJ, Herrtage ME, Halsall D, O'Rahilly S, McNeil PE, Mee AP, Berry JL (2006), “Hypercalcaemia associated with granulomatous lymphadenitis and elevated 1,25 dihydroxyvitamin D concentration in a dog.” J Small Anim Pract 47(4):207-12 Details

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, Wahli W (2006), “International Union of Pharmacology. LXI. Peroxisome proliferator-activated receptors.” Pharmacol Rev 58(4):726-41 Details

O'Rahilly S, Farooqi IS (2006), “Genetics of obesity.” Philos Trans R Soc Lond B Biol Sci 361(1471):1095-105 Details

O'Rahilly S, Wareham NJ (2006), “Genetic variants and common diseases--better late than never.” N Engl J Med 355(3):306-8 Details

Semple RK, Chatterjee VK, O'Rahilly S (2006), “PPAR gamma and human metabolic disease.” J Clin Invest 116(3):581-9 Details

Semple RK, Soos MA, Luan J, Mitchell CS, Wilson JC, Gurnell M, Cochran EK, Gorden P, Chatterjee VK, Wareham NJ, O'Rahilly S (2006), “Elevated plasma adiponectin in humans with genetically defective insulin receptors.” J Clin Endocrinol Metab 91(8):3219-23 Details

Topaloglu AK, Lu ZL, Farooqi IS, Mungan NO, Yuksel B, O'Rahilly S, Millar RP (2006), “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(5):301-8 Details

Tung YC, Piper SJ, Yeung D, O'Rahilly S, Coll AP (2006), “A comparative study of the central effects of specific proopiomelancortin (POMC)-derived melanocortin peptides on food intake and body weight in pomc null mice.” Endocrinology 147(12):5940-7 Details

Tuthill A, Slawik H, O'Rahilly S, Finer N (2006), “Psychiatric co-morbidities in patients attending specialist obesity services in the UK.” QJM 99(5):317-25 Details


Coll AP, Challis BG, López M, Piper S, Yeo GS, O'Rahilly S (2005), “Proopiomelanocortin-deficient mice are hypersensitive to the adverse metabolic effects of glucocorticoids.” Diabetes 54(8):2269-76 Details

Coll AP, Morganstein D, Jayne D, Soos MA, O'Rahilly S, Burke J (2005), “Successful treatment of Type B insulin resistance in a patient with otherwise quiescent systemic lupus erythematosus.” Diabet Med 22(6):814-5 Details

Farooqi IS, O'Rahilly S (2005), “New advances in the genetics of early onset obesity.” Int J Obes (Lond) 29(10):1149-52 Details

Farooqi IS, O'Rahilly S (2005), “Monogenic obesity in humans.” Annu Rev Med 56:443-58 Details

Franks PW, Brage S, Luan J, Ekelund U, Rahman M, Farooqi IS, Halsall I, O'Rahilly S, Wareham NJ (2005), “Leptin predicts a worsening of the features of the metabolic syndrome independently of obesity.” Obes Res 13(8):1476-84 Details

Franks PW, Luan J, Barroso I, Brage S, Gonzalez Sanchez JL, Ekelund U, Ríos MS, Schafer AJ, O'Rahilly S, Wareham NJ (2005), “Variation in the eNOS gene modifies the association between total energy expenditure and glucose intolerance.” Diabetes 54(9):2795-801 Details

Jitrapakdee S, Slawik M, Medina-Gomez G, Campbell M, Wallace JC, Sethi JK, O'rahilly S, Vidal-Puig AJ (2005), “The peroxisome proliferator-activated receptor-gamma regulates murine pyruvate carboxylase gene expression in vivo and in vitro.” J Biol Chem 280(29):27466-76 Details

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, Vidal-Puig A (2005), “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 J 19(9):1108-19 Details

Medina-Gomez G, Virtue S, Lelliott C, Boiani R, Campbell M, Christodoulides C, Perrin C, Jimenez-Linan M, Blount M, Dixon J, Zahn D, Thresher RR, Aparicio S, Carlton M, Colledge WH, Kettunen MI, Seppänen-Laakso T, Sethi JK, O'Rahilly S, Brindle K, Cinti S, Oresic M, Burcelin R, Vidal-Puig A (2005), “The link between nutritional status and insulin sensitivity is dependent on the adipocyte-specific peroxisome proliferator-activated receptor-gamma2 isoform.” Diabetes 54(6):1706-16 Details

O'Rahilly S, Barroso I, Wareham NJ (2005), “Genetic factors in type 2 diabetes: the end of the beginning?” Science 307(5708):370-3 Details

Risérus U, Tan GD, Fielding BA, Neville MJ, Currie J, Savage DB, Chatterjee VK, Frayn KN, O'Rahilly S, Karpe F (2005), “Rosiglitazone increases indexes of stearoyl-CoA desaturase activity in humans: link to insulin sensitization and the role of dominant-negative mutation in peroxisome proliferator-activated receptor-gamma.” Diabetes 54(5):1379-84 Details

Savage DB, Murgatroyd PR, Chatterjee VK, O'Rahilly S (2005), “Energy expenditure and adaptive responses to an acute hypercaloric fat load in humans with lipodystrophy.” J Clin Endocrinol Metab 90(3):1446-52 Details

Semple RK, Achermann JC, Ellery J, Farooqi IS, Karet FE, Stanhope RG, O'rahilly S, Aparicio SA (2005), “Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.” J Clin Endocrinol Metab 90(3):1849-55 Details

Semple RK, Meirhaeghe A, Vidal-Puig AJ, Schwabe JW, Wiggins D, Gibbons GF, Gurnell M, Chatterjee VK, O'Rahilly S (2005), “A dominant negative human peroxisome proliferator-activated receptor (PPAR){alpha} is a constitutive transcriptional corepressor and inhibits signaling through all PPAR isoforms.” Endocrinology 146(4):1871-82 Details

Zeggini E, Groves CJ, Parkinson JR, Halford S, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, O'Rahilly S, Hattersley AT, McCarthy MI (2005), “Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes.” Diabetologia 48(10):2013-7 Details


Agostini M, Gurnell M, Savage DB, Wood EM, Smith AG, Rajanayagam O, Garnes KT, Levinson SH, Xu HE, Schwabe JW, Willson TM, O'Rahilly S, Chatterjee VK (2004), “Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gamma.” Endocrinology 145(4):1527-38 Details

Bhattacharyya S, Luan J, Farooqi IS, Keogh J, Montague C, Brennand J, Jorde L, Wareham NJ, O'Rahilly S (2004), “Studies of the neuromedin U-2 receptor gene in human obesity: evidence for the existence of two ancestral forms of the receptor.” J Endocrinol 183(1):115-20 Details

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, Carlton MB, O'Rahilly S (2004), “Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY(3-36).” Proc Natl Acad Sci U S A 101(13):4695-700 Details

Challis BG, Luan J, Keogh J, Wareham NJ, Farooqi IS, O'Rahilly S (2004), “Genetic variation in the corticotrophin-releasing factor receptors: identification of single-nucleotide polymorphisms and association studies with obesity in UK Caucasians.” Int J Obes Relat Metab Disord 28(3):442-6 Details

Coll AP, Challis BG, O'Rahilly S (2004), “Peptide YY3-36 and satiety: clarity or confusion?” Endocrinology 145(6):2582-4 Details

Coll AP, Challis BG, Yeo GS, Snell K, Piper SJ, Halsall D, Thresher RR, O'Rahilly S (2004), “The effects of proopiomelanocortin deficiency on murine adrenal development and responsiveness to adrenocorticotropin.” Endocrinology 145(10):4721-7 Details

Coll AP, Farooqi IS, Challis BG, Yeo GS, O'Rahilly S (2004), “Proopiomelanocortin and energy balance: insights from human and murine genetics.” J Clin Endocrinol Metab 89(6):2557-62 Details

Farooqi IS, O'Rahilly S (2004), “Monogenic human obesity syndromes.” Recent Prog Horm Res 59:409-24 Details

Franks PW, Bhattacharyya S, Luan J, Montague C, Brennand J, Challis B, Brage S, Ekelund U, Middelberg RP, O'Rahilly S, Wareham NJ (2004), “Association between physical activity and blood pressure is modified by variants in the G-protein coupled receptor 10.” Hypertension 43(2):224-8 Details

Franks PW, Luan J, Browne PO, Harding AH, O'Rahilly S, Chatterjee VK, Wareham NJ (2004), “Does peroxisome proliferator-activated receptor gamma genotype (Pro12ala) modify the association of physical activity and dietary fat with fasting insulin level?” Metabolism 53(1):11-6 Details

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, Schafer AJ, Stoffel M, O'Rahilly S, Barroso I (2004), “A family with severe insulin resistance and diabetes due to a mutation in AKT2.” Science 304(5675):1325-8 Details

Gibson WT, Ebersole BJ, Bhattacharyya S, Clayton P, Farooqi IS, Sealfon SC, O'Rahilly S (2004), “Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity.” Can J Physiol Pharmacol 82(6):426-9 Details

Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O'Rahilly S, Trussell RA (2004), “Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.” J Clin Endocrinol Metab 89(10):4821-6 Details

Gibson WT, Pissios P, Trombly DJ, Luan J, Keogh J, Wareham NJ, Maratos-Flier E, O'Rahilly S, Farooqi IS (2004), “Melanin-concentrating hormone receptor mutations and human obesity: functional analysis.” Obes Res 12(5):743-9 Details

Hung CC, Pirie F, Luan J, Lank E, Motala A, Yeo GS, Keogh JM, Wareham NJ, O'Rahilly S, Farooqi IS (2004), “Studies of the peptide YY and neuropeptide Y2 receptor genes in relation to human obesity and obesity-related traits.” Diabetes 53(9):2461-6 Details

Hussain K, Bodamer OA, Cameron FJ, Camacho-Hubner C, Soos MA, Jones J, Krywawych S, O'Rahilly S, Aynsley-Green A (2004), “Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome.” Horm Res 61(5):222-7 Details

Javor ED, Moran SA, Young JR, Cochran EK, DePaoli AM, Oral EA, Turman MA, Blackett PR, Savage DB, O'Rahilly S, Balow JE, Gorden P (2004), “Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy.” J Clin Endocrinol Metab 89(7):3199-207 Details

Laudes M, Barroso I, Luan J, Soos MA, Yeo G, Meirhaeghe A, Logie L, Vidal-Puig A, Schafer AJ, Wareham NJ, O'Rahilly S (2004), “Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes.” Diabetes 53(3):842-6 Details

Laudes M, Christodoulides C, Sewter C, Rochford JJ, Considine RV, Sethi JK, Vidal-Puig A, O'Rahilly S (2004), “Role of the POZ zinc finger transcription factor FBI-1 in human and murine adipogenesis.” J Biol Chem 279(12):11711-8 Details

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 (2004), “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(12):2168-75 Details

O'Rahilly S, Yeo GS, Farooqi IS (2004), “Melanocortin receptors weigh in.” Nat Med 10(4):351-2 Details

Rochford JJ, Semple RK, Laudes M, Boyle KB, Christodoulides C, Mulligan C, Lelliott CJ, Schinner S, Hadaschik D, Mahadevan M, Sethi JK, Vidal-Puig A, O'Rahilly S (2004), “ETO/MTG8 is an inhibitor of C/EBPbeta activity and a regulator of early adipogenesis.” Mol Cell Biol 24(22):9863-72 Details

Sarker A, Semple RK, Dinneen SF, O'Rahilly S, Martin SC (2004), “Severe hypo-alpha-lipoproteinemia during treatment with rosiglitazone.” Diabetes Care 27(11):2577-80 Details

Savage DB, Soos MA, Powlson A, O'Rahilly S, McFarlane I, Halsall DJ, Barroso I, Thomas EL, Bell JD, Scobie I, Belchetz PE, Kelly WF, Schafer AJ (2004), “Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene.” Diabetologia 47(4):753-6 Details

Semple RK, Crowley VC, Sewter CP, Laudes M, Christodoulides C, Considine RV, Vidal-Puig A, O'Rahilly S (2004), “Expression of the thermogenic nuclear hormone receptor coactivator PGC-1alpha is reduced in the adipose tissue of morbidly obese subjects.” Int J Obes Relat Metab Disord 28(1):176-9 Details

Turner M, Balan KK, O'Rahilly S, Wishart GC (2004), “Minimally invasive parathyroid surgery for recurrent intrathyroid multiple endocrine neoplasia (MEN).” Ann R Coll Surg Engl 86(6):W52-3 Details

Yeo GS, Connie Hung CC, Rochford J, Keogh J, Gray J, Sivaramakrishnan S, O'Rahilly S, Farooqi IS (2004), “A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.” Nat Neurosci 7(11):1187-9 Details


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, Patel SB, Al-Gazali L, Garg A (2003), “Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.” J Clin Endocrinol Metab 88(10):4840-7 Details

Barroso I, Luan J, Middelberg RP, Harding AH, Franks PW, Jakes RW, Clayton D, Schafer AJ, O'Rahilly S, Wareham NJ (2003), “Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.” PLoS Biol 1(1):E20 Details

Bhattacharyya S, Luan J, Challis B, Schmitz C, Clarkson P, Franks PW, Middelberg R, Keogh J, Farooqi IS, Montague C, Brennand J, Wareham NJ, O'Rahilly S (2003), “Association of polymorphisms in GPR10, the gene encoding the prolactin-releasing peptide receptor with blood pressure, but not obesity, in a U.K. Caucasian population.” Diabetes 52(5):1296-9 Details

Challis BG, Pinnock SB, Coll AP, Carter RN, Dickson SL, O'Rahilly S (2003), “Acute effects of PYY3-36 on food intake and hypothalamic neuropeptide expression in the mouse.” Biochem Biophys Res Commun 311(4):915-9 Details

Donohoue PA, Tao YX, Collins M, Yeo GS, O'Rahilly S, Segaloff DL (2003), “Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.” J Clin Endocrinol Metab 88(12):5841-5 Details

Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, O'Rahilly S (2003), “Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.” N Engl J Med 348(12):1085-95 Details

Farooqi IS, Yeo GS, O'Rahilly S (2003), “Binge eating as a phenotype of melanocortin 4 receptor gene mutations.” N Engl J Med 349(6):606-9; author reply 606-9 Details

Franks PW, Barroso I, Luan J, Ekelund U, Crowley VE, Brage S, Sandhu MS, Jakes RW, Middelberg RP, Harding AH, Schafer AJ, O'Rahilly S, Wareham NJ (2003), “PGC-1alpha genotype modifies the association of volitional energy expenditure with [OV0312]O2max.” Med Sci Sports Exerc 35(12):1998-2004 Details

Franks PW, Farooqi IS, Luan J, Wong MY, Halsall I, O'Rahilly S, Wareham NJ (2003), “Does physical activity energy expenditure explain the between-individual variation in plasma leptin concentrations after adjusting for differences in body composition?” J Clin Endocrinol Metab 88(7):3258-63 Details

George S, Johansen A, Soos MA, Mortensen H, Gammeltoft S, Saudek V, Siddle K, Hansen L, O'Rahilly S (2003), “Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject.” Endocrinology 144(2):631-7 Details

Groves CJ, Wiltshire S, Smedley D, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, O'Rahilly S, Menzel S, Hattersley AT, McCarthy MI (2003), “Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility.” Diabetes 52(5):1300-5 Details

Gurnell M, Savage DB, Chatterjee VK, O'Rahilly S (2003), “The metabolic syndrome: peroxisome proliferator-activated receptor gamma and its therapeutic modulation.” J Clin Endocrinol Metab 88(6):2412-21 Details

Haqq AM, Farooqi IS, O'Rahilly S, Stadler DD, Rosenfeld RG, Pratt KL, LaFranchi SH, Purnell JQ (2003), “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.” J Clin Endocrinol Metab 88(1):174-8 Details

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, Dattani MT, Hussain K, Middleton SJ, Nicole TM, Milla PJ, Lindley KJ, O'Rahilly S (2003), “Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.” J Clin Invest 112(10):1550-60 Details

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 (2003), “Characterization of the human, mouse and rat PGC1 beta (peroxisome-proliferator-activated receptor-gamma co-activator 1 beta) gene in vitro and in vivo.” Biochem J 373(Pt 1):155-65 Details

O'Rahilly S, Farooqi IS, Yeo GS, Challis BG (2003), “Minireview: human obesity-lessons from monogenic disorders.” Endocrinology 144(9):3757-64 Details

Okubo Y, Siddle K, Firth H, O'Rahilly S, Wilson LC, Willatt L, Fukushima T, Takahashi S, Petry CJ, Saukkonen T, Stanhope R, Dunger DB (2003), “Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene.” J Clin Endocrinol Metab 88(12):5981-8 Details

Savage DB, Tan GD, Acerini CL, Jebb SA, Agostini M, Gurnell M, Williams RL, Umpleby AM, Thomas EL, Bell JD, Dixon AK, Dunne F, Boiani R, Cinti S, Vidal-Puig A, Karpe F, Chatterjee VK, O'Rahilly S (2003), “Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma.” Diabetes 52(4):910-7 Details

Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF Jr, Aparicio SA, Colledge WH (2003), “The GPR54 gene as a regulator of puberty.” N Engl J Med 349(17):1614-27 Details

Yeo GS, Lank EJ, Farooqi IS, Keogh J, Challis BG, O'Rahilly S (2003), “Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.” Hum Mol Genet 12(5):561-74 Details


Berger D, Barroso I, Soos M, Yeo G, Schafer AJ, O'Rahilly S, Whitehead JP (2002), “Genetic variants of insulin receptor substrate-1 (IRS-1) in syndromes of severe insulin resistance. Functional analysis of Ala513Pro and Gly1158Glu IRS-1.” Diabet Med 19(10):804-9 Details

Challis BG, Pritchard LE, Creemers JW, Delplanque J, Keogh JM, Luan J, Wareham NJ, Yeo GS, Bhattacharyya S, Froguel P, White A, Farooqi IS, O'Rahilly S (2002), “A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.” Hum Mol Genet 11(17):1997-2004 Details

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, Charron MJ, Scherer PE, Moller DE (2002), “Induction of adipocyte complement-related protein of 30 kilodaltons by PPARgamma agonists: a potential mechanism of insulin sensitization.” Endocrinology 143(3):998-1007 Details

Crowley VE, Yeo GS, O'Rahilly S (2002), “Obesity therapy: altering the energy intake-and-expenditure balance sheet.” Nat Rev Drug Discov 1(4):276-86 Details

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 (2002), “Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.” J Clin Invest 110(8):1093-103 Details

Lelliott CJ, Logie L, Sewter CP, Berger D, Jani P, Blows F, O'Rahilly S, Vidal-Puig A (2002), “Lamin expression in human adipose cells in relation to anatomical site and differentiation state.” J Clin Endocrinol Metab 87(2):728-34 Details

Mulligan C, Rochford J, Denyer G, Stephens R, Yeo G, Freeman T, Siddle K, O'Rahilly S (2002), “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.” J Biol Chem 277(45):42480-7 Details

O'Rahilly S (2002), “Leptin: defining its role in humans by the clinical study of genetic disorders.” Nutr Rev 60(10 Pt 2):S30-4; discussion S68-84, 85-7 Details

O'Rahilly S (2002), “Insights into obesity and insulin resistance from the study of extreme human phenotypes.” Eur J Endocrinol 147(4):435-41 Details

Roche HM, Noone E, Sewter C, Mc Bennett S, Savage D, Gibney MJ, O'Rahilly S, Vidal-Puig AJ (2002), “Isomer-dependent metabolic effects of conjugated linoleic acid: insights from molecular markers sterol regulatory element-binding protein-1c and LXRalpha.” Diabetes 51(7):2037-44 Details

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, Ross RJ, Vidal-Puig A, Wareham NJ, O'Rahilly S, Chatterjee VK, Schafer AJ (2002), “Digenic inheritance of severe insulin resistance in a human pedigree.” Nat Genet 31(4):379-84 Details

Savage DB, O'Rahilly S (2002), “Leptin: a novel therapeutic role in lipodystrophy.” J Clin Invest 109(10):1285-6 Details

Sewter C, Berger D, Considine RV, Medina G, Rochford J, Ciaraldi T, Henry R, Dohm L, Flier JS, O'Rahilly S, Vidal-Puig AJ (2002), “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(4):1035-41 Details

Sewter C, Blows F, Considine R, Vidal-Puig A, O'Rahilly S (2002), “Differential effects of adiposity on peroxisomal proliferator-activated receptor gamma1 and gamma2 messenger ribonucleic acid expression in human adipocytes.” J Clin Endocrinol Metab 87(9):4203-7 Details

Sewter CP, Blows F, Vidal-Puig A, O'Rahilly S (2002), “Regional differences in the response of human pre-adipocytes to PPARgamma and RXRalpha agonists.” Diabetes 51(3):718-23 Details

Singhal A, Farooqi IS, Cole TJ, O'Rahilly S, Fewtrell M, Kattenhorn M, Lucas A, Deanfield J (2002), “Influence of leptin on arterial distensibility: a novel link between obesity and cardiovascular disease?” Circulation 106(15):1919-24 Details

Singhal A, Farooqi IS, O'Rahilly S, Cole TJ, Fewtrell M, Lucas A (2002), “Early nutrition and leptin concentrations in later life.” Am J Clin Nutr 75(6):993-9 Details

Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S (2002), “Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.” J Med Genet 39(10):722-33 Details

Wiltshire S, Frayling TM, Hattersley AT, Hitman GA, Walker M, Levy JC, O'Rahilly S, Groves CJ, Menzel S, Cardon LR, McCarthy MI (2002), “Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes.” Am J Hum Genet 70(2):543-6 Details


Bano G, Rodin DA, White A, O'Rahilly S, Nussey SS (2001), “Is the defect in pro-hormone processing in Type 2 diabetes mellitus restricted to the beta cell?” Diabet Med 18(1):17-21 Details

Evans JC, Frayling TM, Cassell PG, Saker PJ, Hitman GA, Walker M, Levy JC, O'Rahilly S, Rao PV, Bennett AJ, Jones EC, Menzel S, Prestwich P, Simecek N, Wishart M, Dhillon R, Fletcher C, Millward A, Demaine A, Wilkin T, Horikawa Y, Cox NJ, Bell GI, Ellard S, McCarthy MI, Hattersley AT (2001), “Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom.” Am J Hum Genet 69(3):544-52 Details

Farooqi IS, Keogh JM, Kamath S, Jones S, Gibson WT, Trussell R, Jebb SA, Lip GY, O'Rahilly S (2001), “Partial leptin deficiency and human adiposity.” Nature 414(6859):34-5 Details

Halsall DJ, Luan J, Saker P, Huxtable S, Farooqi IS, Keogh J, Wareham NJ, O'Rahilly S (2001), “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.” Int J Obes Relat Metab Disord 25(4):472-7 Details

Luan J, Browne PO, Harding AH, Halsall DJ, O'Rahilly S, Chatterjee VK, Wareham NJ (2001), “Evidence for gene-nutrient interaction at the PPARgamma locus.” Diabetes 50(3):686-9 Details

Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J, BSCL Working Group (2001), “Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.” Nat Genet 28(4):365-70 Details

Meirhaeghe A, Luan J, Selberg-Franks P, Hennings S, Mitchell J, Halsall D, O'Rahilly S, Wareham NJ (2001), “The effect of the Gly16Arg polymorphism of the beta(2)-adrenergic receptor gene on plasma free fatty acid levels is modulated by physical activity.” J Clin Endocrinol Metab 86(12):5881-7 Details

Millington GW, Tung YC, Hewson AK, O'Rahilly S, Dickson SL (2001), “Differential effects of alpha-, beta- and gamma(2)-melanocyte-stimulating hormones on hypothalamic neuronal activation and feeding in the fasted rat.” Neuroscience 108(3):437-45 Details

Niesler CU, Prins JB, O'Rahilly S, Siddle K, Montague CT (2001), “Adipose depot-specific expression of cIAP2 in human preadipocytes and modulation of expression by serum factors and TNFalpha.” Int J Obes Relat Metab Disord 25(7):1027-33 Details

Nugent C, Prins JB, Whitehead JP, Savage D, Wentworth JM, Chatterjee VK, O'Rahilly S (2001), “Potentiation of glucose uptake in 3T3-L1 adipocytes by PPAR gamma agonists is maintained in cells expressing a PPAR gamma dominant-negative mutant: evidence for selectivity in the downstream responses to PPAR gamma activation.” Mol Endocrinol 15(10):1729-38 Details

Nugent C, Prins JB, Whitehead JP, Wentworth JM, Chatterjee VK, O'Rahilly S (2001), “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.” J Biol Chem 276(12):9149-57 Details

O'Rahilly S (2001), “Leptin: pathophysiology and implications for therapy.” Eat Weight Disord 6(3 Suppl):21 Details

O'Rahilly S (2001), “Uncoupling protein 2: Adiposity angel and diabetes devil?” Nat Med 7(7):770-2 Details

Ogilvy-Stuart AL, Soos MA, Hands SJ, Anthony MY, Dunger DB, O'Rahilly S (2001), “Hypoglycemia and resistance to ketoacidosis in a subject without functional insulin receptors.” J Clin Endocrinol Metab 86(7):3319-26 Details

Savage DB, Sewter CP, Klenk ES, Segal DG, Vidal-Puig A, Considine RV, O'Rahilly S (2001), “Resistin / Fizz3 expression in relation to obesity and peroxisome proliferator-activated receptor-gamma action in humans.” Diabetes 50(10):2199-202 Details

Soos MA, Jensen J, Brown RA, O'Rahilly S, Shepherd PR, Whitehead JP (2001), “Class II phosphoinositide 3-kinase is activated by insulin but not by contraction in skeletal muscle.” Arch Biochem Biophys 396(2):244-8 Details

Ursø B, Niesler CU, O'Rahilly S, Siddle K (2001), “Comparison of anti-apoptotic signalling by the insulin receptor and IGF-I receptor in preadipocytes and adipocytes.” Cell Signal 13(4):279-85 Details

Vidal-Puig A, O'Rahilly S (2001), “Resistin: a new link between obesity and insulin resistance?” Clin Endocrinol (Oxf) 55(4):437-8 Details

Vidal-Puig A, O'Rahilly S (2001), “Metabolism. Controlling the glucose factory.” Nature 413(6852):125-6 Details

Wiltshire S, Hattersley AT, Hitman GA, Walker M, Levy JC, Sampson M, O'Rahilly S, Frayling TM, Bell JI, Lathrop GM, Bennett A, Dhillon R, Fletcher C, Groves CJ, Jones E, Prestwich P, Simecek N, Rao PV, Wishart M, Bottazzo GF, Foxon R, Howell S, Smedley D, Cardon LR, Menzel S, McCarthy MI (2001), “A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q.” Am J Hum Genet 69(3):553-69 Details


Barsh GS, Farooqi IS, O'Rahilly S (2000), “Genetics of body-weight regulation.” Nature 404(6778):644-51 Details

Baynes KC, Beeton CA, Panayotou G, Stein R, Soos M, Hansen T, Simpson H, O'Rahilly S, Shepherd PR, Whitehead JP (2000), “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(3):321-31 Details

Challis BG, Yeo GS, Farooqi IS, Luan J, Aminian S, Halsall DJ, Keogh JM, Wareham NJ, O'Rahilly S (2000), “The CART gene and human obesity: mutational analysis and population genetics.” Diabetes 49(5):872-5 Details

Digby JE, Crowley VE, Sewter CP, Whitehead JP, Prins JB, O'Rahilly S (2000), “Depot-related and thiazolidinedione-responsive expression of uncoupling protein 2 (UCP2) in human adipocytes.” Int J Obes Relat Metab Disord 24(5):585-92 Details

Farooqi IS, Jones MK, Evans M, O'Rahilly S, Hodges JR (2000), “Triple H syndrome: a novel autoimmune endocrinopathy characterized by dysfunction of the hippocampus, hair follicle, and hypothalamic-pituitary adrenal axis.” J Clin Endocrinol Metab 85(8):2644-8 Details

Farooqi IS, O'Rahilly S (2000), “Recent advances in the genetics of severe childhood obesity.” Arch Dis Child 83(1):31-4 Details

Farooqi IS, Yeo GS, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O'Rahilly S (2000), “Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.” J Clin Invest 106(2):271-9 Details

Frayling TM, McCarthy MI, Walker M, Levy JC, O'Rahilly S, Hitman GA, Rao PV, Bennett AJ, Jones EC, Menzel S, Ellard S, Hattersley AT (2000), “No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians.” J Clin Endocrinol Metab 85(2):853-7 Details

Huxtable SJ, Saker PJ, Haddad L, Walker M, Frayling TM, Levy JC, Hitman GA, O'Rahilly S, Hattersley AT, McCarthy MI (2000), “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(1):126-30 Details

Ledgerwood EC, O'Rahilly S, Surani MA (2000), “The imprinted gene Peg3 is not essential for tumor necrosis factor alpha signaling.” Lab Invest 80(10):1509-11 Details

Montague CT, O'Rahilly S (2000), “The perils of portliness: causes and consequences of visceral adiposity.” Diabetes 49(6):883-8 Details

Rau H, Kocova M, O'Rahilly S, Whitehead JP (2000), “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(7):1264-8 Details

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 (2000), “LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.” Nat Genet 24(2):153-6 Details

Vidal-Puig A, O'Rahilly S (2000), “Obesity and diabetes: an avalanche of new information.” Mol Med Today 6(6):221-3 Details

Whitehead JP, Soos MA, Aslesen R, O'rahilly S, Jensen J (2000), “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.” Biochem J 349 Pt 3:775-81 Details

Yeo GS, Farooqi IS, Challis BG, Jackson RS, O'Rahilly S (2000), “The role of melanocortin signalling in the control of body weight: evidence from human and murine genetic models.” QJM 93(1):7-14 Details


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 (1999), “Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.” Nature 402(6764):880-3 Details

Caronia S, Taylor K, Pagliaro L, Carr C, Palazzo U, Petrik J, O'Rahilly S, Shore S, Tom BD, Alexander GJ (1999), “Further evidence for an association between non-insulin-dependent diabetes mellitus and chronic hepatitis C virus infection.” Hepatology 30(4):1059-63 Details

Farooqi IS, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O'Rahilly S (1999), “Effects of recombinant leptin therapy in a child with congenital leptin deficiency.” N Engl J Med 341(12):879-84 Details

Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, Kocak N, O'Rahilly S, Taylor SI, Patel SB, Bowcock AM (1999), “A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.” J Clin Endocrinol Metab 84(9):3390-4 Details

Jackson RS, O'Rahilly S, Brain C, Nussey SS (1999), “Proopiomelanocortin products and human early-onset obesity.” J Clin Endocrinol Metab 84(2):819-20 Details

O'Rahilly SP (1999), “The metabolic syndrome: all in the mind?” Diabet Med 16(5):355-7 Details

Rau H, Reaves BJ, O'Rahilly S, Whitehead JP (1999), “Truncated human leptin (delta133) associated with extreme obesity undergoes proteasomal degradation after defective intracellular transport.” Endocrinology 140(4):1718-23 Details

Sewter CP, Digby JE, Blows F, Prins J, O'Rahilly S (1999), “Regulation of tumour necrosis factor-alpha release from human adipose tissue in vitro.” J Endocrinol 163(1):33-8 Details

Ursø B, Brown RA, O'Rahilly S, Shepherd PR, Siddle K (1999), “The alpha-isoform of class II phosphoinositide 3-kinase is more effectively activated by insulin receptors than IGF receptors, and activation requires receptor NPEY motifs.” FEBS Lett 460(3):423-6 Details

Ursø B, Cope DL, Kalloo-Hosein HE, Hayward AC, Whitehead JP, O'Rahilly S, Siddle K (1999), “Differences in signaling properties of the cytoplasmic domains of the insulin receptor and insulin-like growth factor receptor in 3T3-L1 adipocytes.” J Biol Chem 274(43):30864-73 Details


Berger A, Brand M, O'Rahilly S (1998), “Uncoupling proteins: the unravelling of obesity? Increased understanding of mechanisms may lead, in time, to better drugs.” BMJ 317(7173):1607-8 Details

Dib K, Whitehead JP, Humphreys PJ, Soos MA, Baynes KC, Kumar S, Harvey T, O'Rahilly S (1998), “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.” J Clin Invest 101(5):1111-20 Details

Digby JE, Montague CT, Sewter CP, Sanders L, Wilkison WO, O'Rahilly S, Prins JB (1998), “Thiazolidinedione exposure increases the expression of uncoupling protein 1 in cultured human preadipocytes.” Diabetes 47(1):138-41 Details

Farooqi S, Rau H, Whitehead J, O'Rahilly S (1998), “ob gene mutations and human obesity.” Proc Nutr Soc 57(3):471-5 Details

Kalidas K, Dow E, Saker PJ, Wareham N, Halsall D, Jackson RS, Chan SP, Gelding S, Walker M, Kousta E, Johnston DG, O'Rahilly S, McCarthy MI (1998), “Prohormone convertase 1 in obesity, gestational diabetes mellitus, and NIDDM: no evidence for a major susceptibility role.” Diabetes 47(2):287-9 Details

Krook A, Digby J, O'Rahilly S, Zierath JR, Wallberg-Henriksson H (1998), “Uncoupling protein 3 is reduced in skeletal muscle of NIDDM patients.” Diabetes 47(9):1528-31 Details

Ledgerwood EC, Prins JB, Bright NA, Johnson DR, Wolfreys K, Pober JS, O'Rahilly S, Bradley JR (1998), “Tumour necrosis factor is trafficked to a mitochondrial tumour necrosis factor binding protein.” Biochem Soc Trans 26(4):S316 Details

Ledgerwood EC, Prins JB, Bright NA, Johnson DR, Wolfreys K, Pober JS, O'Rahilly S, Bradley JR (1998), “Tumor necrosis factor is delivered to mitochondria where a tumor necrosis factor-binding protein is localized.” Lab Invest 78(12):1583-9 Details

Montague CT, Prins JB, Sanders L, Zhang J, Sewter CP, Digby J, Byrne CD, O'Rahilly S (1998), “Depot-related gene expression in human subcutaneous and omental adipocytes.” Diabetes 47(9):1384-91 Details

O'Rahilly S (1998), “Life without leptin.” Nature 392(6674):330-1 Details

Prins J, Ledgerwood E, Ameloot P, Vandenabeele P, Faraco P, Bright N, O'Rahilly S, Bradley J (1998), “Tumour necrosis factor induced autophagy and mitochondrial morphological abnormalities are mediated by TNFR-I and/or TNFR-II and do not invariably lead to cell death.” Biochem Soc Trans 26(4):S314 Details

Prins JB, Ledgerwood EC, Ameloot P, Vandenabeele P, Faraco PR, Bright NA, O'Rahilly S, Bradley JR (1998), “Tumor necrosis factor-induced cytotoxicity is not related to rates of mitochondrial morphological abnormalities or autophagy-changes that can be mediated by TNFR-I or TNFR-II.” Biosci Rep 18(6):329-40 Details

Wareham NJ, O'Rahilly S (1998), “The changing classification and diagnosis of diabetes. New classification is based on pathogenesis, not insulin dependence.” BMJ 317(7155):359-60 Details

Whitehead JP, Humphreys P, Krook A, Jackson R, Hayward A, Lewis H, Siddle K, O'Rahilly S (1998), “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(5):837-9 Details

Whitehead JP, Soos MA, Jackson R, Tasic V, Kocova M, O'Rahilly S (1998), “Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.” Diabetes 47(8):1362-4 Details

Yeo GS, Farooqi IS, Aminian S, Halsall DJ, Stanhope RG, O'Rahilly S (1998), “A frameshift mutation in MC4R associated with dominantly inherited human obesity.” Nat Genet 20(2):111-2 Details


Adams M, Montague CT, Prins JB, Holder JC, Smith SA, Sanders L, Digby JE, Sewter CP, Lazar MA, Chatterjee VK, O'Rahilly S (1997), “Activators of peroxisome proliferator-activated receptor gamma have depot-specific effects on human preadipocyte differentiation.” J Clin Invest 100(12):3149-53 Details

Baynes KC, Whitehead J, Krook A, O'Rahilly S (1997), “Molecular mechanisms of inherited insulin resistance.” QJM 90(9):557-62 Details

Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S (1997), “Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.” Nat Genet 16(3):303-6 Details

Jackson SN, Howlett TA, McNally PG, O'Rahilly S, Trembath RC (1997), “Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy.” QJM 90(1):27-36 Details

Kalloo-Hosein HE, Whitehead JP, Soos M, Tavaré JM, Siddle K, O'Rahilly S (1997), “Differential signaling to glycogen synthesis by the intracellular domain of the insulin versus the insulin-like growth factor-1 receptor. Evidence from studies of TrkC-chimeras.” J Biol Chem 272(39):24325-32 Details

Krook A, Whitehead JP, Dobson SP, Griffiths MR, Ouwens M, Baker C, Hayward AC, Sen SK, Maassen JA, Siddle K, Tavaré JM, O'Rahilly S (1997), “Two naturally occurring insulin receptor tyrosine kinase domain mutants provide evidence that phosphoinositide 3-kinase activation alone is not sufficient for the mediation of insulin's metabolic and mitogenic effects.” J Biol Chem 272(48):30208-14 Details

Lee PJ, Cranston I, Amiel SA, O'Rahilly S, Green AA (1997), “Effect of metformin on glucose disposal and hyperinsulinaemia in a 14-year-old boy with acanthosis nigricans.” Horm Res 48(2):88-92 Details

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 (1997), “Congenital leptin deficiency is associated with severe early-onset obesity in humans.” Nature 387(6636):903-8 Details

Montague CT, Prins JB, Sanders L, Digby JE, O'Rahilly S (1997), “Depot- and sex-specific differences in human leptin mRNA expression: implications for the control of regional fat distribution.” Diabetes 46(3):342-7 Details

O'Rahilly S (1997), “Diabetes in midlife: planting genetic time bombs.” Nat Med 3(10):1080-1 Details

O'Rahilly S (1997), “Science, medicine, and the future. Non-insulin dependent diabetes mellitus: the gathering storm.” BMJ 314(7085):955-9 Details

Panz VR, Raal FJ, O'Rahilly S, Kedda MA, Joffe BI (1997), “Insulin receptor substrate-1 gene variants in lipoatrophic diabetes mellitus and non-insulin-dependent diabetes mellitus: a study of South African black and white subjects.” Hum Genet 101(1):118-9 Details

Prins JB, Niesler CU, Winterford CM, Bright NA, Siddle K, O'Rahilly S, Walker NI, Cameron DP (1997), “Tumor necrosis factor-alpha induces apoptosis of human adipose cells.” Diabetes 46(12):1939-44 Details

Prins JB, O'Rahilly S (1997), “Regulation of adipose cell number in man.” Clin Sci (Lond) 92(1):3-11 Details

Whitehead JP, Humphreys PJ, Dib K, Goding JW, O'Rahilly S (1997), “Expression of the putative inhibitor of the insulin receptor tyrosine kinase PC-1 in dermal fibroblasts from patients with syndromes of severe insulin resistance.” Clin Endocrinol (Oxf) 47(1):65-70 Details

Zaidi FK, Wareham NJ, McCarthy MI, Holdstock J, Kalloo-Hosein H, Krook A, Swinn RA, O'Rahilly S (1997), “Homozygosity for a common polymorphism in the islet-specific promoter of the glucokinase gene is associated with a reduced early insulin response to oral glucose in pregnant women.” Diabet Med 14(3):228-34 Details


Krook A, Moller DE, Dib K, O'Rahilly S (1996), “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.” J Biol Chem 271(12):7134-40 Details

Krook A, O'Rahilly S (1996), “Homozygous mutation in the insulin receptor.” Clin Endocrinol (Oxf) 45(2):237-8 Details

Krook A, O'Rahilly S (1996), “Mutant insulin receptors in syndromes of insulin resistance.” Baillieres Clin Endocrinol Metab 10(1):97-122 Details

Krook A, Soos MA, Kumar S, Siddle K, O'Rahilly S (1996), “Functional activation of mutant human insulin receptor by monoclonal antibody.” Lancet 347(9015):1586-90 Details

Kumar S, Durrington PN, O'Rahilly S, Laing I, Humphreys PJ, Olukoga AO, Bhatnagar D, Mackness MI, Davis JR, Boulton AJ (1996), “Severe insulin resistance, diabetes mellitus, hypertriglyceridemia, and pseudoacromegaly.” J Clin Endocrinol Metab 81(10):3465-8 Details

Prins JB, O'Rahilly S, Chatterjee VK (1996), “Steroid hormones and adipose tissue.” Eur J Clin Invest 26(4):259-61 Details

Shepherd PR, Navé BT, O'Rahilly S (1996), “The role of phosphoinositide 3-kinase in insulin signalling.” J Mol Endocrinol 17(3):175-84 Details

Talbot JA, Bicknell EJ, Rajkhowa M, Krook A, O'Rahilly S, Clayton RN (1996), “Molecular scanning of the insulin receptor gene in women with polycystic ovarian syndrome.” J Clin Endocrinol Metab 81(5):1979-83 Details


Gray H, O'Rahilly S (1995), “Toward improved glycemic control in diabetes. What's on the horizon?” Arch Intern Med 155(11):1137-42 Details

Gray H, Wreghitt T, Stratton IM, Alexander GJ, Turner RC, O'Rahilly S (1995), “High prevalence of hepatitis C infection in Afro-Caribbean patients with type 2 diabetes and abnormal liver function tests.” Diabet Med 12(3):244-9 Details

Krook A, Bell JA, Robertson ME, Brueton L, O'Rahilly S (1995), “Prenatal analysis of the insulin receptor gene in a family with leprechaunism.” Prenat Diagn 15(7):669-71 Details

O'Rahilly S, Gray H, Humphreys PJ, Krook A, Polonsky KS, White A, Gibson S, Taylor K, Carr C (1995), “Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function.” N Engl J Med 333(21):1386-90 Details

Poulton J, O'Rahilly S, Morten KJ, Clark A (1995), “Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome.” Diabetologia 38(7):868-71 Details

Swinn RA, Wareham NJ, Gregory R, Curling V, Clark PM, Dalton KJ, Edwards OM, O'Rahilly S (1995), “Excessive secretion of insulin precursors characterizes and predicts gestational diabetes.” Diabetes 44(8):911-5 Details


Gray H, O'Rahilly S (1994), “Beta cell dysfunction in non-insulin-dependent diabetes mellitus.” Transplant Proc 26(2):366-70 Details

Krook A, Kumar S, Laing I, Boulton AJ, Wass JA, O'Rahilly S (1994), “Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.” Diabetes 43(3):357-68 Details

O'Rahilly S, Hattersley A, Vaag A, Gray H (1994), “Insulin resistance as the major cause of impaired glucose tolerance: a self-fulfilling prophesy?” Lancet 344(8922):585-9 Details


Cook JT, Page RC, O'Rahilly S, Levy J, Holman R, Barrow B, Hattersley AT, Shaw AG, Wainscoat JS, Turner RC (1993), “Availability of type II diabetic families for detection of diabetes susceptibility genes.” Diabetes 42(10):1536-43 Details

Flier JS, Moller DE, Moses AC, O'Rahilly S, Chaiken RL, Grigorescu F, Elahi D, Kahn BB, Weinreb JE, Eastman R (1993), “Insulin-mediated pseudoacromegaly: clinical and biochemical characterization of a syndrome of selective insulin resistance.” J Clin Endocrinol Metab 76(6):1533-41 Details

Hattersley AT, Saker PJ, Patel P, Lo YM, Page R, O'Rahilly S, Turner RC, Permutt MA, Wainscoat JS (1993), “Linkage of maturity-onset diabetes of the young to the glucokinase gene--evidence of genetic heterogeneity.” Biochem Soc Trans 21(1):24S Details

Krook A, Brueton L, O'Rahilly S (1993), “Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism.” Lancet 342(8866):277-8 Details

O'Rahilly S (1993), “Glucokinase and non-insulin-dependent diabetes.” Clin Endocrinol (Oxf) 39(1):17-9 Details

O'Rahilly S (1993), “Molecular aspects of non-insulin-dependent diabetes.” Eye (Lond) 7 ( Pt 2):214-7 Details


Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, Chiu KC, O'Rahilly S, Watkins PJ, Wainscoat JS (1992), “Linkage of type 2 diabetes to the glucokinase gene.” Lancet 339(8805):1307-10 Details

Krook A, Stratton IM, O'Rahilly S (1992), “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-insulin-dependent diabetes.” Hum Mol Genet 1(6):391-5 Details

O'Rahilly S, Krook A, Morgan R, Rees A, Flier JS, Moller DE (1992), “Insulin receptor and insulin-responsive glucose transporter (GLUT 4) mutations and polymorphisms in a Welsh type 2 (non-insulin-dependent) diabetic population.” Diabetologia 35(5):486-9 Details

O'Rahilly S, Moller DE (1992), “Mutant insulin receptors in syndromes of insulin resistance.” Clin Endocrinol (Oxf) 36(2):121-32 Details

O'Rahilly S, Patel P, Lehmann OJ, Tybjaerg-Hansen A, Nerup J, Turner RC, Wainscoat JS (1992), “Multipoint linkage analysis of the short arm of chromosome 11 in non-insulin dependent diabetes including maturity onset diabetes of youth.” Hum Genet 89(2):207-12 Details


Choi WH, O'Rahilly S, Buse JB, Rees A, Morgan R, Flier JS, Moller DE (1991), “Molecular scanning of insulin-responsive glucose transporter (GLUT4) gene in NIDDM subjects.” Diabetes 40(12):1712-8 Details

Cook JT, Patel PP, Clark A, Höppener JW, Lips CJ, Mosselman S, O'Rahilly S, Page RC, Wainscoat JS, Turner RC (1991), “Non-linkage of the islet amyloid polypeptide gene with type 2 (non-insulin-dependent) diabetes mellitus.” Diabetologia 34(2):103-8 Details

O'Rahilly S, Choi WH, Patel P, Turner RC, Flier JS, Moller DE (1991), “Detection of mutations in insulin-receptor gene in NIDDM patients by analysis of single-stranded conformation polymorphisms.” Diabetes 40(6):777-82 Details


Beer SF, O'Rahilly S, Spivey RS, Hales CN, Turner RC (1990), “Plasma proinsulin in first-degree relatives of type 2 diabetic subjects.” Diabetes Res 14(2):51-4 Details

Patel P, O'Rahilly S, Buckle V, Nakamura Y, Turner RC, Wainscoat JS (1990), “Chromosome 11 allele loss in sporadic insulinoma.” J Clin Pathol 43(5):377-8 Details

Turner RC, Rudenski AS, Matthews DR, Levy JC, O'Rahilly SP, Hosker JP (1990), “Application of structural model of glucose-insulin relations to assess beta-cell function and insulin sensitivity.” Horm Metab Res Suppl 24:66-71 Details


O'Rahilly S, Patel P, Wainscoat JS, Turner RC (1989), “Analysis of the HepG2/erythrocyte glucose transporter locus in a family with type 2 (non-insulin-dependent) diabetes and obesity.” Diabetologia 32(4):266-9 Details

O'Rahilly S, Patel P, Wainscoat JS, Turner RC (1989), “Analysis of the pro-opiomelanocortin gene in non-insulin dependent diabetic families.” Diabetes Res 10(3):125-8 Details

Patel P, Mosselman S, Höppener JW, Jansz HS, Clark A, O'Rahilly S, Turner RC, Wainscoat JS (1989), “An RFLP associated with insulinoma amyloid polypeptide locus (IAPP).” Nucleic Acids Res 17(16):6758 Details


O'Rahilly S, Trembath RC, Patel P, Galton DJ, Turner RC, Wainscoat JS (1988), “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(11):792-7 Details

O'Rahilly S, Turner RC (1988), “Early-onset type 2 diabetes vs maturity-onset diabetes of youth: evidence for the existence of two discrete diabetic syndromes.” Diabet Med 5(3):224-9 Details

O'Rahilly S, Turner RC (1988), “Linkage analysis of the receptor gene and MODY.” Diabetologia 31(3):185-6 Details

O'Rahilly S, Turner RC, Matthews DR (1988), “Impaired pulsatile secretion of insulin in relatives of patients with non-insulin-dependent diabetes.” N Engl J Med 318(19):1225-30 Details

O'Rahilly S, Wainscoat JS, Turner RC (1988), “Type 2 (non-insulin-dependent) diabetes mellitus. New genetics for old nightmares.” Diabetologia 31(7):407-14 Details

O'Rahilly SO, Hosker JP, Rudenski AS, Matthews DR, Burnett MA, Turner RC (1988), “The glucose stimulus-response curve of the beta-cell in physically trained humans, assessed by hyperglycemic clamps.” Metabolism 37(10):919-23 Details

Patel P, O'Rahilly S, Ullrich A, Turner RC, Wainscoat JS (1988), “A new Sst 1 RFLP associated with human insulin receptor locus.” Nucleic Acids Res 16(12):5700 Details

Turner RC, Matthews DR, Clark A, O'Rahilly S, Rudenski AS, Levy J (1988), “Pathogenesis of NIDDM--a disease of deficient insulin secretion.” Baillieres Clin Endocrinol Metab 2(2):327-42 Details

Turner RC, Rudenski AS, Hosker JP, Matthews DR, Levy JC, O'Rahilly SP (1988), “CIGMA as a tool in the study of NIDDM.” Prog Clin Biol Res 265:13-26 Details


Burnett MA, Del Vecchio M, Bown E, O'Rahilly S, Turner RC (1987), “Normal calcium-activated potassium channel in red cells in type 2 diabetes.” Diabetes Res 5(1):19-21 Details

O'Rahilly S, Burnett MA, Smith RF, Darley JH, Turner RC (1987), “Haemolysis affects insulin but not C-peptide immunoassay.” Diabetologia 30(6):394-6 Details

O'Rahilly S, Spivey RS, Holman RR, Nugent Z, Clark A, Turner RC (1987), “Type II diabetes of early onset: a distinct clinical and genetic syndrome?” Br Med J (Clin Res Ed) 294(6577):923-8 Details

Turner RC, Rudenski AS, Holman RR, Matthews DR, O'Rahilly SP (1987), “Quantitative modelling of endocrine diseases as exemplified by diabetes.” Clin Endocrinol (Oxf) 26(1):107-16 Details


O'Rahilly SP, Matthews DR, Hosker JP, Turner RC (1986), “Metabolic abnormalities in children of non-insulin dependent diabetics.” Br Med J (Clin Res Ed) 293(6559):1437-8 Details

O'Rahilly SP, Nugent Z, Rudenski AS, Hosker JP, Burnett MA, Darling P, Turner RC (1986), “Beta-cell dysfunction, rather than insulin insensitivity, is the primary defect in familial type 2 diabetes.” Lancet 2(8503):360-4 Details