Mellanby RJ, Mellor P, Villiers EJ, Herrtage ME, Halsall D, O'Rahilly S, McNeil PE, Mee AP, Berry JL
Hypercalcaemia associated with granulomatous lymphadenitis and elevated 1,25 dihydroxyvitamin D concentration in a dog.
J Small Anim Pract. 2006 47:207-12 Abstract
Christodoulides C, Scarda A, Granzotto M, Milan G, Dalla Nora E, Keogh J, De Pergola G, Stirling H, Pannacciulli N, Sethi JK, Federspil G, Vidal-Puig A, Farooqi IS, O'Rahilly S, Vettor R
WNT10B mutations in human obesity.
Diabetologia. 2006 49:678-684 Abstract
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
A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.
Cell Metab. 2006 3:135-40 Abstract
Bhattacharyya S, Luan J, Challis B, Keogh J, Montague C, Brennand J, Morten J, Lowenbeim S, Jenkins S, Farooqi IS, Wareham NJ, O'Rahilly S
Sequence variants in the melatonin-related receptor gene (GPR50) associate with circulating triglyceride and HDL levels.
J Lipid Res. 2006 47:761-6 Abstract
Barroso I, Luan J, Sandhu MS, Franks PW, Crowley V, Schafer AJ, O'Rahilly S, Wareham NJ
Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes.
Diabetologia. 2006 49:501-5 Abstract
Farooqi IS, O'Rahilly S
New advances in the genetics of early onset obesity.
Int J Obes (Lond). 2005 29:1149-52 Abstract
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
Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes.
Diabetologia. 2005 48:2013-7 Abstract
Franks PW, Brage S, Luan J, Ekelund U, Rahman M, Farooqi IS, Halsall I, O'Rahilly S, Wareham NJ
Leptin predicts a worsening of the features of the metabolic syndrome independently of obesity.
Obes Res. 2005 13:1476-84 Abstract
Franks PW, Luan J, Barroso I, Brage S, Gonzalez Sanchez JL, Ekelund U, Rios MS, Schafer AJ, O'Rahilly S, Wareham NJ
Variation in the eNOS gene modifies the association between total energy expenditure and glucose intolerance.
Diabetes. 2005 54:2795-801 Abstract
Jensen J, Jebens E, Brennesvik EO, Ruzzin J, Soos MA, Engebretsen EM, O'Rahilly S, Whitehead JP
Muscle glycogen inharmoniously regulates glycogen synthase activity, glucose uptake, and proximal insulin signaling.
Am J Physiol Endocrinol Metab. 2006 290:E154-E162 Abstract
Coll AP, Challis BG, Lopez M, Piper S, Yeo GS, O'Rahilly S
Proopiomelanocortin-deficient mice are hypersensitive to the adverse metabolic effects of glucocorticoids.
Diabetes. 2005 54:2269-76 Abstract
Lelliott CJ, Lopez M, Curtis RK, Parker N, Laudes M, Yeo G, Jimenez-Linan M, Grosse J, Saha AK, Wiggins D, Hauton D, Brand MD, O'Rahilly S, Griffin JL, Gibbons GF, Vidal-Puig A
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. 2005 19:1108-19 Abstract
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, Seppanen-Laakso T, Sethi JK, O'Rahilly S, Brindle K, Cinti S, Oresic M, Burcelin R, Vidal-Puig A
The Link Between Nutritional Status and Insulin Sensitivity Is Dependent on the Adipocyte-Specific Peroxisome Proliferator-Activated Receptor-gamma2 Isoform.
Diabetes. 2005; 54:1706-1716 Abstract
Jitrapakdee S, Slawik M, Medina-Gomez G, Campbell M, Wallace JC, Sethi JK, O'Rahilly S, Vidal-Puig AJ
The peroxisome proliferator-activated receptor gamma regulates murine pyruvate carboxylase gene expression in vivo and in vitro.
J Biol Chem. 2005 2005 280:27466-76 Abstract
Coll AP, Morganstein D, Jayne D, Soos MA, O'Rahilly S, Burke J
Successful treatment of Type B insulin resistance in a patient with otherwise quiescent systemic lupus erythematosus.
Diabet Med. 2005; 22:814-5
Riserus U, Tan GD, Fielding BA, Neville MJ, Currie J, Savage DB, Chatterjee VK, Frayn KN, O'Rahilly S, Karpe F
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 2005; 54:1379-84 Abstract
Liew CF, Groves CJ, Wiltshire S, Zeggini E, Frayling TM, Owen KR, Walker M, Hitman GA, Levy JC, O'Rahilly S, Hattersley AT, Johnston DG, McCarthy MI
Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism.
Diabetologia 2004; 47:2168-75 Abstract
O'Rahilly S, Barroso I, Wareham NJ
Genetic factors in type 2 diabetes: the end of the beginning?
Science. 2005; 307:370-3 Abstract
Semple RK, Meirhaeghe A, Vidal-Puig AJ, Schwabe JW, Wiggins D, Gibbons GF, Gurnell M, Chatterjee VK, O'Rahilly S
A dominant negative human PPAR alpha is a constitutive transcriptional co-repressor and inhibits signaling through all PPAR isoforms.
Endocrinology 2005 146:1871-82 Abstract
Farooqi IS, O'Rahilly S
Monogenic obesity in humans.
Annu Rev Med. 2005 56:443-58 Abstract
Savage DB, Murgatroyd PR, Chatterjee VK, O'Rahilly S
Energy expenditure and adaptive responses to an acute hypercaloric fat load in humans with lipodystrophy.
J Clin Endocrinol Metab. 2005; 90:1446-52 Abstract
Semple RK, Achermann JC, Ellery J, Farooqi IS, Karet FE, Stanhope RG, O'Rahilly S, Aparicio SA
Two Novel Missense Mutations in GPR54 in a Patient with Hypogonadotropic Hypogonadism.
J Clin Endocrinol Metab. 2005; 90:1849-55 Abstract
Liew CF, Groves CJ, Wiltshire S, Zeggini E, Frayling TM, Owen KR, Walker M, Hitman GA, Levy JC, O'Rahilly S, Hattersley AT, Johnston DG, McCarthy MI
Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism.
Diabetologia. 2004; 47:2168-75 Abstract
Bhattacharyya S, Luan J, Farooqi IS, Keogh J, Montague C, Brennand J, Jorde L, Wareham NJ, O'Rahilly S
Studies of the neuromedin U-2 receptor gene in human obesity: evidence for the existence of two ancestral forms of the receptor.
J Endocrinol. 2004; 183:115-20 Abstract
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.
ETO/MTG8 is an inhibitor of C/EBPbeta activity and a regulator of early adipogenesis.
Mol Cell Biol. 2004; 24:9863-72 Abstract
Sarker A, Semple RK, Dinneen SF, O'Rahilly S, Martin SC.
Severe hypo-alpha-lipoproteinemia during treatment with rosiglitazone.
Diabetes Care. 2004; 27:2577-80 Abstract
Yeo GS, Connie Hung CC, Rochford J, Keogh J, Gray J, Sivaramakrishnan S, O'Rahilly S, Farooqi IS
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.
Nat Neurosci. 2004; 7:1187-9 Abstract
Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O'Rahilly S, Trussell RA
Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.
J Clin Endocrinol Metab. 2004; 89:4821-6 Abstract
Gibson WT, Ebersole BJ, Bhattacharyya S, Clayton P, Farooqi IS, Sealfon SC, O'Rahilly S.
Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity.
Can J Physiol Pharmacol. 2004; 82:426-9 Abstract
Hung CC, Pirie F, Luan J, Lank E, Motala A, Yeo GS, Keogh JM, Wareham NJ, O'Rahilly S, Farooqi IS.
Studies of the peptide YY and neuropeptide Y2 receptor genes in relation to human obesity and obesity-related traits.
Diabetes. 2004; 53:2461-6 Abstract
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
Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene.
Diabetologia. 2004; 47:753-6 Abstract
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.
Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy.
J Clin Endocrinol Metab. 2004; 89:3199-207 Abstract
Coll AP, Challis BG, Yeo GS, Snell K, Piper SJ, Halsall D, Thresher RR, O'Rahilly S
The effects of proopiomelanocortin deficiency on murine adrenal development and responsiveness to adrenocorticotropin.
Endocrinology 2004; 145:4721-7 Abstract
Coll AP, Farooqi IS, Challis BG, Yeo GS, O'Rahilly S.
Proopiomelanocortin and energy balance: insights from human and murine genetics.
J Clin Endocrinol Metab 2004; 89:2557-62 Abstract
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.
A family with severe insulin resistance and diabetes due to a mutation in AKT2.
Science 2004; 304:1325-8. Abstract
Gibson WT, Pissios P, Trombly DJ, Luan J, Keogh J, Wareham NJ, Maratos-Flier E, O'Rahilly S, Farooqi IS.
Melanin-concentrating hormone receptor mutations and human obesity: functional analysis.
Obes Res 2004; 12:743-9. Abstract
Coll AP, Challis BG, O'Rahilly S.
Peptide YY3-36 and satiety: clarity or confusion?
Endocrinology. 2004; 145:2582-4. Abstract
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.
The GPR54 gene as a regulator of puberty.
Obstet Gynecol Surv. 2004; 59:351-3. Abstract
Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY 3-36
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.
Proc Natl Acad Sci U S A 2004; 101:4695-700 Abstract
Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes.
Laudes M, Barroso I, Luan J, Soos MA, Yeo G, Meirhaeghe A, Logie L, Vidal-Puig A, Schafer AJ, Wareham NJ, O'Rahilly S.
Diabetes. 2004; 53: 842-6. Abstract
Laudes M, Christodoulides C, Sewter C, Rochford J, Considine R Sethi JK, Vidal-Puig AJ, O'Rahilly S
Role of the POZ Zinc finger transcription factor FBI-1 in human and murine adipogenesis.
J Biol Chem 2004; 279:11711-8 Abstract
BG Challis, J Luan, J Keogh, NJ Wareham, IS Farooqi and S O'Rahilly.
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. 2004; 28: 442-6. Abstract
Hussain K, Bodamer OAF, Cameraon FJ, Camacho-hubner C, Soos MA, Jones J, Krywaych S, O'Rahilly S, Aynsley-Green A
Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertropy: A new syndrome.
Hormone Research 2004; 61:222-227. Abstract
Franks P, Bhattacharyya S, Luan J, Montague, Brennand J, Challis B, Brage S, Ekelund U, Middelberg R, O'Rahilly S , Wareham N.
Association between physical activity & blood pressure is modified by variants in the G-protein coupled receptor 10. Hypertension 2004; 43:1-5. Abstract
Semple RK, Crowley VC, Sewter CP, Laudes M, Christodoulides C, Considine RV, Vidal-Puig A, O'Rahilly S
Expression of the thermogenic nuclear hormone receptor coactivator PGC-1alpha is reduced in the adipose tissue of morbidly obese subjects.
Int J Obes Relat Metab Disord 2004 28:176-179. Abstract
Franks P, Luan J, Browne P, Harding AH, O'Rahilly S , Chatterjee K, Wareham NJ
Does peroxisome proliferator-activated receptor gamma genotype (Pro12ala) modify the association of physical activity and dietary fate with fasting insulin level?
Metabolism 2004, 53, 1:11-6. Abstract
Challis BG, Pinnock SB, Coll AP, Carter RN, Dickson SL, O'Rahilly S
Acute effects of PYY3-36 on food intake and hypothalamic neuropeptide expression in the mouse
Biochem & Biophys Res Comm 2003; 311, 4:915-9. Abstract
Seminara S, Messenger S, Chatzidaki E, Thresher R, Acierno J, Shagoury J, Bo-Abbas Y, Kuohung W, Schwinof K, Hendrick A, Zahn D, Dixon J, Kaiser U, Slugenhaupt S, Gusella J, O'Rahilly S , Carlton M, Crowley V, Apraicio S, Colledge W
The GPR54 gene as a regulator of puberty.
N Engl J Med 2003; 349, 17:1614-27. Abstract
Okubo Y, Siddle K, Firth H, O'Rahilly S, Wilson L, Willatt L, Fukushima T.
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 2003 ; 88, 12:5981-8. Abstract
Donohoue P, Tao YX, Collins M, Yeo G, O'Rahilly S, Segaloff DL
Deletion of codon 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.
J Clin Endocrinol Metab 2003; 88, 12: 5841-5. Abstract
Agostini M, Gurnell M, Savage D, Wood E, Smith A, Rajanayagam O, Garnes K, Levinson S, Xu HE, Schwabe J, Willson T, O'Rahilly S, Chatterjee K
Tyrosine agonists reverse the molecular defects associated with dominant negative mutations in human PPARgamma.
Endocrinology 2003; Dec 4. Abstract
Franks PW, Barroso I, Luan J, Ekelund U, Crowley V, Brage S, Sandhy MS, Jakes R, Middelberg R, Harding AH. Schafer A, O'Rahilly S, Wareham NJ.
PGC-1alpha genotype modifies the association of volitional energy expenditure with VO 2max.
Med Sci Sports Exerc 2003; 35, 12:1998-2004. Abstract
Jackson, RS. Creemers JWM, Farooqi IS, Raffin-Sanson M-L, 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 PH, , Lindley KJ, O'Rahilly S
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
JCI 2003; 112, 10:1550-1560. Abstract
Barroso I, Luan J, Middelberg RP, Harding AH, Franks PW, Jakes RW, Clayton D, Schafer AJ, O'Rahilly S, Wareham NJ
Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.
PloS Biol 2003; 1(1):E20 Abstract
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
Phenotypic and Genetic heterogeneity in Congenital Generalized Lipodystrophy.
J Clin Endocrinol Metab 2003; 88, 10:4840-7. Abstract
Franks P, Farooqi IS, Luan J, Wong MY, Halsall I, O'Rahilly S, Wareham NJ.
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 2003; 88:3258-63. Abstract
Meirhaeghe A, Crowley V, Lenaghan C, Lelliot C, Green K, Stewart A, Hart K, Schinner S, Sethi JK, Yeo G, Brand MD, Cortright R, O'Rahilly S, Montague C, Vidal-Puig A.
Characterization of the human, mouse & rat PGC-1 beta (peroxisome-proliferator-activated receptor-gamma co-activator 1 beta) gene in vitro & in vivo.
Biochem J 2003:373:155-65. Abstract
Groves CJ, Wiltshire S, Smedley D, Owen K, Frayling T, Walker M, Hitman G, Levy J, O'Rahilly S , Menzel S, Hattersley A, McCarthy M.
Association & haplotype analysis of the insulin-degrading enzyme IDE gene, a strong positional & biological candidate for type 2 diabetes susceptibility.
Diabetes 2003; 52:1300-5. Abstract
Bhattachyaryya S, Luan J, Challis B, Schmitz C, Clarkson P, Franks P, Middelberg R, Keogh J, Farooqi S, Montague C, Brennand J, Wareham N, O'Rahilly S
Association of polymorphisms in GPR10, the gene encoding the prolactin-releasing peptide receptor with blood pressure, but not obesity, in a UK Caucasian population.
Diabetes 2003; 52:1296-9. Abstract
Hung C C-C, Farooqi IS, Ong K, Luan J, Keogh JM, Pembrey M, Yeo G, Dunger D, Wareham NJ, O' Rahilly S
Contribution of variants in the small heterodimer partner gene to birthweight, adiposity & insulin levels: Mutational analysis & association studies in multiple populations.
Diabetes 2003; 52: 1288-1291. Abstract
Farooqi IS, Keogh JM, Yeo G, Lank E, Cheetham T, Genetics of Obesity Study Group, O'Rahilly S.
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
New Eng J Med 2003; 348(12):1085-95. Abstract
Savage DB, Tan GD, Acerini CL, Jebb SA, Agostini M, Gurnell M, Williams RL, Umpleby M, Thomas L, Bell JD, Dixon AK, Dunne F, Boiani R, Cinti S, Vidal-Puig A, Karpe F, Chatterjee VKK, O'Rahilly S.
The human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor PPARgamma.
Diabetes 2003; 52(4) 910-917. Abstract
Yeo G, Lank E, Farooqi S, Keogh J, Challis B, O'Rahilly S.
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.
Human Molecular Genetics 2003; 12, 5:561-574. Abstract
Haqq AM, Farooqi IS, O'Rahilly S, Stadler DD, Rosefeld RG, Pratt KL, LaFranchi SH, Purnell JQ.
Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi Syndrome.
J Clin Endocrinol Metab 2003; 88(1):174-8. Abstract
Singhal A, Farooqi S, Cole T, O'Rahilly S , Fewtrell M, Kattenhorn M, Lucas A, Deanfield J.
Influence of leptin on arterial distensibility: a novel link between obesity and cardiovascular disease?
Circulation 2002; 106, 15:1919-24. Abstract
George S, Johansen A, Soos MA, Mortensen H, Gammeltoft S, Saudek V, Siddle K, Hansen L, O'Rahilly S.
Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor which is unable to bind insulin & causes Donohue's Syndrome in a human subject.
Endocrinology 2003; 144, 2:631-637. Abstract
Mulligan C, Rochford J, Denyer G, Stephen R, Yeo G, Freeman T, Siddle K, O'Rahilly S.
Microarray analysis of insulin & IGF-1 receptor signalling reveals the selective up-regulation of the mitogen HB-EGF by IGF-1
J Biol Chem 2002; 277, 45:42480-7. Abstract
Farooqi IS, Matarese G, Lord GM,.Keogh JM, Lawrence E, Agwu C, Sanna V,. Jebb SA, Perna F, Fontana S, Lechler RI, DePaoli AM, O'Rahilly S.
Beneficial effects of leptin on obesity, T cell hyporesponsiveness and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.
J Clin Invest 2002; 110, 8: 1093-1103. Abstract
Van Maldergem L, Magré J, Khallouf ET, Gedde-Dahl T, Délépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VF, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert J-J, Loret H, de Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen JA, Polak M, Lacombe D, Kahn R, Lemos Silveira E, Homero D'Abronzo F, Grigorescu F, Lathrop M, Capeau J, and O'Rahilly S
Genotype-Phenotype Relationships in Berardinelli-Seip Congenital Lipodystrophy
Journal of Medical Genetics 2002; 39, 10:722-723. Abstract
Sewter C, Blows F, Considine R, Vidal-Puig A, O'Rahilly S
Differential effects of adiposity on PPAR g 1 and g 2 mRNA expression in human adipocytes.
J Clin Endocrinol Metab 2002; 87, 9:4203-4207. Abstract
Savage DB, Agostini M, Barroso I, Gurnell M, Luan J, Meirhaeghe A, Harding A-H, Ihrke G, Soos MA, Ratanayagam O, George S, Berger D, Thomas EL, Bell JD, McCarthy M, Hattersley AT, Hitman GA, Levy J, Walkers M, Meeran K, Ross R, Vidal-Puig A, Wareham NJ, O'Rahilly S Chatterjee VKK, Schafer AJ.
Digenic Inheritance of Severe Insulin Resistance in a Human Pedigree.
Nature Genetics 2002; 31: 379-384 Abstract
Berger D, Whitehead JP, Barroso I, Soos M, Yeo G, Schafer AJ, O'Rahilly S
Genetic variants of insulin receptor substrate-1 (IRS-1) in syndromes of severe insulin resistance. Functional analysis of Gly1158Glu and Ala513Pro IRS-1.
Diabetic Medicine, 2002; 19, 10: 804-9. Abstract
Challis BG, Pritchard LE, Creemers JWM, Delplanque J, Keogh JM, Luan J, Wareham NJ,. Yeo G, Bhattacharyya S, Froguel P, White A, Farooqi IS, O'Rahilly S
A missense mutation disrupting a dibasic prohormone processing site in proopiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism
Human Molecular Genetics 2002; 11, 17:1997-2004. Abstract
Roche HM, Noone E, Sewter C, McBennett S, Savage D, Gibney MJ, O'Rahilly S, Vidal-Puig AJ
Isomer-dependent metabolic effects of conjugated linoleic acid: insights from molecular markers sterol regulatory element-binding protien-1c and LXRalpha.
Diabetes 2002; 51, 7:2037-44 Abstract
Singhal A, Farroqi IS, O'Rahilly S, Cole TJ, Fewtrell M, Lucas A
Early nutrition and leptin concentrations in later life.
Am J Clin Nutr 2002; 75, 6:993-9. Abstract
Sewter C, Berger D, Considine R, Medina G, Rochford J, Ciaraldi T, Henry R, Dohm L, Flier J, O'Rahilly S and Vidal-Puig
A Human Obesity and Type 2 Diabetes are Associated with Alterations in SREBP1 Isoform Expression which are Reproduced ex vivo by TNFalpha.
Diabetes 2002; 51, 4:1035-41. Abstract
Lelliot C, Logie L, Sewter C, Berger D, Jani P, Blows F, O'Rahilly S, Vidal-Puig A
Lamin expression in human adipose cells in relation to anatomical site and differentiation state.
J Clin Endocrinol Metab 2002; 87(2):728-734. Abstract
Sewter C, Blows F, Vidal-Puig A, O'Rahilly S.
Regional differences in the response of human pre-adipocytes to PPAR g and RXR a agonists.
Diabetes 2002 ; 51(3):718-723. Abstract
Combs T, Wagner J, Berger J, Doebber T, Wang W-J, Zhang B-B, Tanen M, Berg A, O'Rahilly S , Savage D, Chatterjee VKK, Weiss S, Larson P, Gottesdiener K, Bertz B, Charron J, Scherer P, Moller D.
Induction of Acrp30 levels by PPARgamma agonists: a potential mechanism of insulin sensitization.
Endocrinology 2002; 143, 3:998-1007. Abstract
Wiltshire S, Frayling TM, Hattersley AT, Hitman GA, Walker M, Levy JC, O'Rahilly S, Groves CJ, Menzel S, Cardon LR, McCarthy MI.
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 2002; 70, 2:543-6. Abstract
Soos MA, Jensen J, Brown RA, O'Rahilly S , Shepherd, Whitehead JP
Class II phosphoinositide 3-kinase is activated by insulin but not by contraction in skeletal muscle.
Archives of Biochemistry & Biophysics 2001; 396,2:244-248 (research report). Abstract
Millington GWM, Tung YCL, Hewson AK, O'Rahilly S , Dickson SL.
Differential Effects of a -, b - and g 2-Melanocyte-Stimulating Hormones on Hypothalamic Neuronal Activation and Feeding in the Fasted Rat.
Neuroscience 2001; 108:437-45. Abstract
Meirhaeghe A, Luan A, Selberg-Franks P, Hennings S, Mitchell J, Halsall D, O'Rahilly S, Wareham N.
The effect of the Gly16Arg Polymorphism of the b2-Adrenergic Receptor Gene on Plasma Free Fatty Acid Levels is Modulated by Physical Activity.
J Clin Endocrinol Metab 2001; 86:5881-7. Abstract
Farooqi IS, Keogh J, Kamath S, Jones S, Gibson W, Trussell R, Jebb S, Lip G, O'Rahilly S
Partial leptin deficiency and human adiposity.
Nature 2001; 414:34-35. Abstract
Nugent C, Prins JB, Whitehead JP, Wentworth JM, Chatterjee VKK, O'Rahilly S
Potentiation of glucose uptake in 3T3-L1 adipocytes by PPAR g agonists is maintained in cells expressing a PPR g dominant-negative mutant: evidence for selectivity in the downstream responses to PPAR g activation.
Molecular Endocrinology 2001; 15:1729-1738. Abstract
Savage D, Sewter C, Klenk E, Segal D, Vidal-Puig A, Considine R, O'Rahilly S.
Resistin/Fizz3 expression in relation to obesity.
Diabetes 2001; 50(10):2199-2202. Abstract
Magre J, Delepine M, Khallouf E, Gedde-Dahl T, Van Maldergem L, Sobel E, Papp J, Meier M, CGL Working Group (S O'Rahilly is a member), Lathrop M, Capeau J.
Mutations in the human homologue of Gng31g cause 11q13-linked congenital generalized lipodystrophy.
Nature Genetics 2001; 28 (4):365-75. Abstract
Evans JC, Frayling TM, Cassell PG, Saker PJ, Hitman GA, Walker M, Levy JC, O'Rahilly S, Pamidighantam VSR, 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.
Association of the calpain-10 gene with type 2 diabetes mellitus in the United Kingdom.
Am J Hum Gen, 2001; 69(3):544-52. Abstract
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, Foxon R, Howell S, Smedley D, Cardon LR, Menzel S, McCarthy MI.
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 susceptibiity locus on chromosome 1Q.
Am J Hum Genet 2001; 69(3):553-69. Abstract
Ogilvy-Stuart A, Soos MA, Hands SJ, Anthony MY, Dunger DB, O'Rahilly S
Hypoglycaemia & resistance to ketoacidosis in a human without functional insulin receptors.
J Clin Endocrinol Metab 2001; 86(7):3319-3326. Abstract
Urso B, Niesler CU, O'Rahilly S, Siddle K
Comparison of anti-apoptotic signalling by he insulin receptor & IGF-1 receptor in preadipocytes & adipocytes.
Cellular Signalling 2001; 13:279-285 Abstract
Niesler CU. Prins JB. O'Rahilly S. Siddle K. Montague CT.
Adipose depot-specific expression of clAP2 in human preadipocytes and modulation of expression by serum factors and TNF alpha.
Int J Obes Relat Metab Disord 2001; 25(7):1027-1033. Abstract
Nugent C, Prins JB, Whitehead JP, Wentworth JM, Chatterjee VKK, O'Rahilly S
Arachidonic acid stimulates glucose uptake in 3T3-L1 adipocytes by increasing GLUT1 & GLUT4 levels at the plasma membrane.
J. Biol Chem 2001; 276:9149-915. Abstract
Halsall DJ, Luan J, Saker P, Huxtable S, Farooqi IS, Keogh J, Wareham NJ, O'Rahilly S
Uncoupling protein 3 genetic variants in human obesity: the c-55t promoter polymorphism is negatively correlated with body mass index in a UK Caucasian population.
Int J Obes Relat Metab Disord 2001; 25:472-477. Abstract
Luan J, Browne PO, Harding A-H, Halsall DJ, O'Rahilly S, Chatterjee VKK, Wareham NJ.
Evidence for Gene-Nutrient Interaction at the PPAR gamma locus.
Diabetes 2001; 50:686-689. Abstract
Bano G, Rodin DA, White A, O'Rahilly S, Nussey SS.
Is the defect in prohormone processing in type 2 diabetes mellitus restricted to the beta cell?
Diabetic Medicine 2001, 18, 1:17-21. Abstract
Ledgerwood EC, O'Rahilly S, Surani M A
The imprinted gene Peg3 is not essential for TNF signalling.
Lab Invest. 2000; 80:1509-1511. Abstract
Farooqi IS, Jones MK, Evans M, O'Rahilly S
Triple H syndrome: A novel auto-immune endocrinopathy characterised by dysfunction of the hippocampus, hair follicle and hypothalamic-pituitary-adrenal axis.
J Clin Endocrinol Metab , 2000; 85,8:2644-2648. Abstract
Farooqi IS, Yeo GSH, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O'Rahilly S
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
J Clin Invest . 2000; 106, 2:271-279. Abstract
Rau H, Kocova M, O'Rahilly S, Whitehead J
Naturally occurring amino acid substitutions at Arg 1174 in the human insulin receptor result in differential effects on receptor biosynthesis and hybrid formation leading to discordant clinical phenotypes.
Diabetes 2000; 49:1264-1268. Abstract
Whitehead JW, Soos MA, Aslesen R, O'Rahilly S, Jensen J
Contraction inhibits insulin-stimulated IRS-1/2 associated PI 3-kinase activity but not PKB activation or glucose uptake in rat muscle.
Biochem J 2000; 349:775-781. Abstract
Challis B, Yeo G, Farooqi S, Luan J, Aminian S, Halsall D, Keogh J, Wareham N, O'Rahilly S
The CART gene & human obesity: Mutational analysis & population genetics.
Diabetes 2000; 49, 5:872-875. Abstract
Digby JE, Crowley VEF, Sewter CP, Whitehead JP, Prins JB, O'Rahilly S.
Depot-related and thiazolidinedione-responsive expression of uncoupling protein 2 (UCP2) in human adipocytes.
Int J Obes Relat Metab Disord 2000; 24:585-592. Abstract
Baynes KCR, Beeton CA, Panayotou G, Stein R, Soos M, Hanson T, Simpson H, O'Rahilly S, Shepherd PR, Whitehead JP.
Natural variants of human p85 a phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity.
Diabetologia 2000, 43:321-331. Abstract
Frayling TM, McCarthy MI, Walker M, Levy JC, O'Rahilly S , Hitman GA, Subba Rao PV, Bennett AJ, Jones EC, Menzel S, Ellard S, Hattersley AT.
No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians.
J Clin Endocrinol Metab, 2000; 85, 2:853-857. Abstract
Shackleton S, Lloyd D, Jackson S, Evans R, Niermeijer M, Singh B, Schmidt H, Brabant G, Kumar S, Durrington P, Gregory S, O'Rahilly S, Trembath R.
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
Nature Genetics 2000; 24, 2:153-156. Abstract
Huxtable SJ, Saker PJ, Haddad L, Walker M, Frayling TM, Levy JC, Hitman GA, O'Rahilly S, Hattersley AT, McCarthy MI.
Analysis of parent-offspring trios provides evidence for linkage & association between the insulin gene & type 2 diabetes mediated exclusively through paternally-transmitted class III VNTR alleles.
Diabetes 2000; 49,1:126-130. Abstract
Sewter CP, Digby JE, Blows F, Prins J, O'Rahilly S
Regulation of tumour necrosis factor alpha release from human adipose tissue in vitro.
J of Endocrinology 1999; 163:33-38. Abstract
Caronia S, Taylor K, Pagliaro L, Carr C, Palazzo U, Petrik J, O'Rahilly S, Shore S, Tom BDM, Alexander GJM
Further evidence for an association between non-insulin-dependent diabetes mellitus and chronic hepatitis C virus infection.
Hepatology 1999; 30, 4:1059-1063. Abstract
Barroso I, Gurnell M, Crowley VEF, Agostini M, Schwabe JW, Soos MA, Maslen GLI, Williams TDM, Schafer AJ, Lewis H, Chatterjee VKK, O'Rahilly S.
Dominant-negative mutations in human PPAR g are associated with severe insulin resistance, diabetes mellitus & hypertension.
Nature 1999; 402, 6764:880-883. Abstract
Urso B, Brown RA, O'Rahilly S , Shepherd PR, Siddle K.
The a -isoform of class II phophoinositide 3-kinase is more effectively activated by insulin receptors than IGF receptors, and activation requires receptor NPEY motifs.
FEBS Letters 1999: 460, 3:423-6 Abstract
Urso B, Cope DL, Kalloo-Hosein HE, Hayward AC, Whitehead JP, O'Rahilly S, Siddle K
Differences in signalling properties of the cytoplasmic domains of the insulin receptor & insulin-like growth factor receptor in 3T3-L1 adipocytes.
J Biol Chem 1999; 274, 43:30864-73. Abstract
Jackson RS, O'Rahilly S, Brain C, Nussey S
Proopiomelanocortin products and human early-onset obesity.
J Clin Endocrinol Metab, 1999; 84:819-20. Abstract
Garg A, Wilson R, Barnes R, Arioglu E. Zaidi Z, Gurakan F, Kocak N, O'Rahilly S , Taylor S, Patel S, Bowcock A.
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.
J Clin Endocrinol Metab, 1999; 84 (9):3390-4. Abstract
Farooqi S, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O'Rahilly S
Effects of recombinant leptin therapy in a child with congenital leptin deficiency.
New Eng J Med , 1999, 341, 12: 879-884. Abstract
Rau H, Reaves B, O'Rahilly S, Whitehead JP.
Truncated human leptin (delta133) associated with extreme obesity undergoes proteasomal degradation after defective intracellular transport.
Endocrinology 1999; 140, 4:1718-1723. Abstract
Prins JB, Ledgerwood EC, Ameloot P, Vandenabeele P, Faraco PR, Bright NA, O'Rahilly S , Bradley JR.
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.
Bioscience Reports 1998, 18, 6:329-340. Abstract
Ledgerwood EC, Prins JB, Bright NA, Johnson DR, Wolfreys K, Pober JS, O'Rahilly S, Bradley JR
Tumor necrosis factor is delivered to mitochondria where a tumor necrosis factor-binding protein is localized.
Laboratory Investigation 1998, 78, 12:1583-1589. Abstract
Yeo G, Farooqi IS, Aminian S, Halsall D, Stanhope R, O'Rahilly S
A frameshift mutation in MC4R associated with dominantly inherited human obesity.
Nature Genetics 1998; 20:111-112. Abstract
Krook A, Digby J, O'Rahilly S, Zierath J, Wallberg-Henriksson H
Uncoupling protein 3 is reduced in skeletal muscle of NIDDM patients.
Diabetes 1998; 47:1528-1531. Abstract
Montague CT, Prins JB, Sanders L, Zhang J-L, Sewter CP, Digby JE, Byrne CD, O'Rahilly S
Depot-related gene expression in human subcutaneous & omental adipocytes.
Diabetes 1998; 47:1384-1391. Abstract
Whitehead J, Soos M, Jackson R, Tasic V, Kocova M, O'Rahilly S
Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donahue Syndrome
Diabetes 1998, 47:1362-64. Abstract
Kalidas K, Dow E, Saker PJ, Wareham N, Halsall D, Jackson RS, Chan S-P, Gelding S, Walker M, Kousta E, Johnston DG, O'Rahilly S, McCarthy M
Prohormone convertase 1 in obesity, gestational diabetes and NIDDM - no evidence for a major susceptibility role.
Diabetes 1998; 47, 2:287-289. Abstract
Whitehead J, Humphreys P, Krook A, Jackson R, Hayward A, Lewis H, Siddle K, O'Rahilly S
Molecular scanning of the insulin receptor substrate 1 gene in subjects with severe insulin resistance: detection and functional analysis of a naturally occurring mutation in a YMXM motif.
Diabetes 1998, 47:837-839 Abstract
Wareham N, Swinn R, Fineman M, Koda J, Taylor K, Williams D, O'Rahilly S
Gestational diabetes mellitus is associated with an increase in the total concentration of amylin molecules.
Diabetes Care 1998, 21,4:668-669. Abstract
Dib K, Whitehead J, Humphreys PJ, Soos M, Baynes K, Kumar S, Harvey T, O'Rahilly S
Impaired activation of PI3-kinase by insulin in fibroblasts from patients with severe insulin resistance and pseudo-acromegaly: a disorder characterised by selective post-receptor insulin resistance.
J Clin Invest 1998; 101,5:1111-1120. Abstract
Digby JE, Montague CT, Sewter CP, Sanders S, Wilkison W, O'Rahilly S, Prins JB.
Thiazolidinedione exposure increases the expression of uncoupling protein-1 in cultured human preadipocytes.
Diabetes 1998; 47, 1:138-141. Abstract
Krook A, Whitehead JP, Dobson SP, Griffiths MR, Ouwens M, Maassen JA, Tavare J, O'Rahilly S
Two naturally occurring mutations in the insulin receptor tyrosine kinase domain provide evidence that PI3-kinase activation alone is insufficient for the mediation of the metabolic effects of insulin
J Biol Chem. 1997; 272, 48:30208-30214. Abstract
Adams M, Montague C, Prins J, Holder J, Sewter C, Sanders L, Chatterjee VKK, O'Rahilly S
Activators of peroxisome proliferator-activated receptor gamma have depot-specific effects on human preadipocyte differentiation.
J Clin Invest 1997; 46, 12:1939-1944. Abstract
Panz VR, Raal FJ, O'Rahilly S , Kedda M-A, Joffe BI
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 1997; 101, 1:118-119. Abstract
Prins JB, Niesler CU, Winterford CM, Bright NA, Siddle K, O'Rahilly S , Walker NI, Cameron DP
Tumour necrosis factor- a induces apoptosis of human adipose cells.
Diabetes 1997; 46,12:1939-1944. Abstract
Kalloo-Hosein HE, Whitehead JP, Soos M, Tavare JM, Siddle K, O'Rahilly S
Differential signalling to glycogen synthesis by the intracellular domain of the insulin versus the IGF-1 receptor: Evidence for studies of TrkC-chimeras.
J Biol Chem 1997; 272, 39: 24325-24332. Abstract
Whitehead J, Humphreys PJ, Dib K, Goding J, O'Rahilly S
Expression of the putative inhibitor of the insulin receptor tyrosine kinase PC-1 in dermal fibroblasts from patients with syndromes of severe insulin resistance.
Clinical Endocrinology 1997; 47,1:65-70. Abstract
Lee PJ, Cranston I, Amiel SA, O'Rahilly S , Aynsley Green A.
Effect of metformin on glucose disposal and hyperinsulinaemia in a 14-year-old boy with acanthosis nigricans.
Hormone Research 1997; 48, 2:88-92. Abstract
Jackson RS, Creemers JWM, Ohagi S, Raffin-Sanson M-L, Sanders L, Montague C, Hutton JC, O'Rahilly S
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 (PC1) gene.
Nature Genetics 1997; 16,3:303-306. Abstract
Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohamed SN, Hurst JA, Cheatham KH, Earley AR, Barnett AH, Prins JB, O'Rahilly S
Congenital leptin deficiency is associated with severe early-onset obesity in humans.
Nature 1997; 387, 6636:903-908. Abstract
Montague CT, Prins J, Sanders L, Digby J, O'Rahilly S
Depot- and sex-specific differences in human leptin mRNA expression: Implications for the control of regional fat distribution.
Diabetes 1997; 46, 3:342-347. Abstract
Zaidi F, Wareham NJ, McCarthy M, Holdstock J, Kalloo-Hosein H, Krook A, Swinn R, O'Rahilly S
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.
Diabetic Medicine 1997; 14, 3:228-234. Abstract
Jackson SN, Howlett TA, McNally PG, O'Rahilly S, Trembath RC
Dunnigan-Kobberling Syndrome: an autosomal dominant form of partial lipodystrophy.
Q. J. Medicine 1997; 90:27-36 Abstract
Kumar S, Durrington PN, O'Rahilly S, Laing I, Humphreys PJ, Olukoga AO, Bhatnagar D, Mackness MI, Davis JRE, Boulton AJM
Severe insulin resistance, diabetes mellitus, hypertriglyceridemia and pseudoacromegaly.
J Clin Endocrinol. Metab, 81,10:3465-3468. Abstract
Talbot JA, Bicknell EJ, Rajhowka M, Krook A, O'Rahilly S , Clayton RN
Molecular Scanning of the insulin receptor gene in women with polycystic ovarian syndrome
J Clin Endocrinol. Metab. 81,5:1979-1983. Abstract
Krook A, Soos M, Kumar S, Siddle K, O'Rahilly S
Functional activation of mutant insulin receptor by monoclonal antibody.
Lancet 1996; 347, 9015:1586-1590 Abstract
Krook A, Moller DE, Dib K, O'Rahilly S
Two naturally-occurring mutant receptors phosphorylate insulin receptor substrate-1 (IRS-1) but fail to mediate the biological effects of insulin.
J Biol Chem 1996; 271, 12:7134-7140 Abstract
O'Rahilly S , Gray H, Humphreys PJ, Krook A, Polonsky K, White A, Gibson S, Taylor K, Carr C.
Impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function.
New Eng J Med 1995; 333, 21:1386-1390 Abstract
Swinn RA, Wareham NJ, Gregory R, Curling V, Clark PMS, Dalton KJ, Edwards OM, O'Rahilly S
Excessive secretion of insulin precursors characterizes and predicts gestational diabetes.
Diabetes 1995; 44, 8:911-915 Abstract
Krook A, Bell JA, Robertson ME, Brueton L, O'Rahilly S
Prenatal analysis of the insulin receptor gene in a family with leprechaunism
Prenatal Diagnosis 1995;15:669-671 Abstract
Poulton J, O'Rahilly S, Morten KJ and Clark A
Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome
Diabetologia 1995; 38, 7:868-871 Abstract
Gray H, Wreghitt T, Stratton I, Alexander G, Turner RC, O'Rahilly S
High Prevalence of Hepatitis C infection in Afro-Caribbean patients with Type 2 diabetes and abnormal liver function tests.
Diabetic Medicine 1995; 12, 3:244-249 Abstract
O'Rahilly S, Hattersley A, Vaag A, Gray H
Insulin resistance as the major cause of impaired glucose tolerance: A self-fulfilling prophesy?
Lancet 1994; 344, 8922:585-589 Abstract
Humphreys P, McCarthy M, Tuomilehto J, Tuomilehto-Wolf E, Stratton I, Morgan R, Rees A, Owens D, Stengard J, Nissinen A, Hitman G, Turner RC, O'Rahilly S
Chromosome 4q locus associated with insulin resistance in Pima Indians: Studies in three European NIDDM Populations
Diabetes 1994; 43, 6:800-804
Krook A Kumar S, Laing I, Boulton AJM, Wass JAH, O'Rahilly S
Molecular scanning of the insulin receptor gene in syndromes of insulin resistance
Diabetes 1994; 43:357-368
Krook A, Brueton L, O'Rahilly S
Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism
Lancet 1993; 342: 277-278 Abstract
Cook JTE, Page RCL, O'Rahilly S , Levy J, Holman R, Barrow B, Hattersley AT, Shaw AG, Wainscoat JS, Turner RC
Availability of Type II diabetic families for detection of diabetes susceptibility genes
Diabetes 1993; 42: 1536-1543
Flier JS, Moller DE, Moses AC, O'Rahilly S, Chaiken R, Grigorescu F, Kahn BB, Weinreb JE, Eastman R
Insulin-mediated pseudoacromegaly: Clinical and biochemical characterization of syndrome of selective insulin resistance.
J Clin Endocrinol. Metab. 1993; 76, 6:1533-1541 Abstract
Krook A, Stratton I, O'Rahilly S
Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulin-dependent diabetes.
Hum Mol Genet 1992; 1, 6: 391-395 Abstract
O'Rahilly S, Krook A, Morgan R, Rees A, Flier JS, Moller DE.
Insulin receptor and insulin-responsive glucose transporter (GLUT4) mutations and polymorphisms in a Welsh Type 2 (non-insulin-dependent) diabetic population.
Diabetologia 1992; 35: 486-489 Abstract
O'Rahilly S, Patel P, Lehmann O, Tybjaerg-Hansen A, Nerup J, Turner RC Wainscoat JS
Multipoint linkage analysis of the short arm of chromosome 11 in NIDDM including maturity onset diabetes of youth.
Human Genetics 1992; 89: 87-212. Abstract
Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, Chiu KC, O'Rahilly S, Watkins P, Wainscoat JS
Linkage of Type 2 diabetes to the glucokinase gene.
Lancet 1992; 339: 1307-1310 Abstract
Choi WH, O'Rahilly S, Buse JB, Rees A, Morgan R, Flier JS, Moller DE
Molecular scanning of the insulin-responsive glucose transporter (GLUT4) gene in NIDDM subjects.
Diabetes 1991; 40: 1712-1718 Abstract
O'Rahilly S, Choi WH, Patel P, Turner RC, Flier JS, Moller DE
Detection of mutations in the insulin receptor gene in NIDDM patients by analysis of single-stranded conformation polymorphisms.
Diabetes 1991; 40: 777-782
Cook J, Patel P, Clark A, Hoppener J, Lips C, Mosselman S, O'Rahilly S, Page R, Wainscoat JS, Turner RC
Non-linkage of the Islet amyloid polypeptide locus with Type 2 NIDDM.
Diabetologia 1991; 34: 103-8
Patel P, O'Rahilly S, Buckle V, Nakamura Y, Turner RC, Wainscoat JS
Chromosome 11 allele loss in sporadic insulinoma.
J Clin Path 1990 ; 43: 377-378 Abstract
Beer S, O'Rahilly S, Spivey RS, Hales CN, Turner RC
Plasma intact pro-insulin in first-degree relatives of Type 2 diabetic subjects.
Diabetes Research 1990; 14: 51-54
Patel P, Wainscoat JS, Hoppener J, Clark AS, O'Rahilly S
A PvuII polymorphism at the human islet amyloid polypeptide locus.
Nucleic Acids Research 1990
O'Rahilly S , Patel P, Wainscoat JS, Turner RC
Analysis of the HepG2/ erythrocyte glucose transporter locus in a family with Type 2 (non-insulin-dependent) diabetes and obesity.
Diabetologia 1989;32: 266-269
O'Rahilly S , Patel P, Wainscoat JS, Turner RC
Analysis of the pro-opiomelanocortin locus in non-insulin dependent diabetic families.
Diabetes Research, 1989 10: 125-128
O'Rahilly S , Turner RC, Matthews DR
Impaired pulsatile secretion of insulin in relatives of patients with non-insulin-dependent diabetes.
New Eng J Med 1988; 318:1225-1230.
O'Rahilly S , Hosker JP, Rudenski AS, Matthews DR, Burnett MA, Turner RC
The glucose stimulus-response curve of the b -cell in physically trained humans, assessed by hyperglycaemic clamps.
Metabolism 1988; 37, 10: 919-923
O'Rahilly S , Trembath RC, Patel P, Galton DJ, Turner RC, Wainscoat JS
Linkage analysis of the human insulin receptor gene in type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young.
Diabetologia 1988 ; 31:792-79
'Rahilly S , Turner RC
Early-onset type 2 diabetes vs maturity-onset diabetes of the young: evidence for the existence of two discrete diabetic syndromes.
Diabetic Medicine 1988; 5: 224-229
Patel P, O'Rahilly S , Ullrich A, Turner RC, Wainscoat JS
A new Sst 1 RFLP associated with human insulin receptor locus.
Nucleic Acids Research 1988; 16,2:5700
O'Rahilly S, Turner RC
Linkage analysis of the insulin receptor gene in MODY.
Diabetologia 1988;31: 185-187.
O'Rahilly S , Spivey RS, Holman RR, Nugent Z, Clark A, Turner RC
Type II diabetes of early onset: A distinct clinical and genetic syndrome?
Brit. Med. J. 1987; 294: 923-928
Burnett MA, Del Vecchio M, Bown E, O'Rahilly S, Turner RC
Normal calcium-activated potassium channel in red cells in type 2 diabetes.
Diabetes Research 1987; 5: 19-21.
O'Rahilly S, Burnett MA, Smith RF, Darley JH, Turner RC
Haemolysis affects insulin but not C-peptide immuno-assay.
Diabetologia 1987; 30: 394: 396
O'Rahilly S , Nugent Z, Rudenski AS, Hosker JP, Burnett MA, Darling P, Turner RC
Beta-cell dysfunction, rather than insulin insensitivity, is the primary defect in familial type 2 diabetes.
Lancet 1986; II: 360-364
