Stephen O’Rahilly, MD, FRS, FMedSci

Original Scientific Publications

(* = Most significant contributions)

*1) O'Rahilly S, Rudenski AS, Burnett MA, Nugent Z,Hosker JP, Darling P, Turner RC. Beta-cell dysfunction, rather than insulin insensitivity, is the primary defect in familial type 2 diabetes. Lancet 1986; 2:360-364. doi:10.1016/50140-6736(86)90052-8.

2) O'Rahilly S, Burnett MA, Smith RF, Darley JH, Turner RC. Haemolysis affects insulin but not C-peptide immunoassay. Diabetologia 1987; 30:394-396.

3) 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 Res 1987; 5:19-21.

*4)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? Br Med J (Clin Res Ed) 1987; 294:923-928.

5) O'Rahilly S, Turner RC. Linkage analysis of the receptor gene and MODY. Diabetologia 1988;31:185-186.

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

7) O'Rahilly S, Turner RC. Early-onset type 2 diabetes vs maturity-onset diabetes of the youth: evidence for the existence of two discrete diabetic syndromes. Diabet Med 1988; 5:224-229. doi:10.1111/j.1464-5491.1988.tb00974.x.

8) 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; 31:792-797. doi:10.1007/BF00277479.

9) O'Rahilly S, Hosker JP, Rudenski AS, Matthews DR, Burnett MA, Turner RC. The glucose stimulus-response curve of the -cell in physically trained humans, assessed by hyperglycaemic clamps. Metabolism 1988; 37:919-923. doi:10.1016/0026-0495(88)90147-3.

*10) O'Rahilly S, Turner RC, Matthews DR. Impaired pulsatile secretion of insulin in relatives of patients with non-insulin-dependent diabetes. N Engl J Med 1988; 318:1225-1230. doi:10.1056/NEJM198805123181902.

11) O'Rahilly S, Patel P, Wainscoat JS, Turner RC. Analysis of the pro-opiomelanocortin gene in non-insulin dependent diabetic families. Diabetes Res 1989; 10:125-128.

12) 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.

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

14) Beer SF, O'Rahilly S, Spivey RS, Hales CN, Turner RC. Plasma pro-insulin in first-degree relatives of type 2 diabetic subjects. Diabetes Res 1990; 14:51-54.

15) Patel P, O'Rahilly S, Buckle V, Nakamura Y, Turner RC, Wainscoat JS. Chromosome 11 allele loss in sporadic insulinoma. JClin Pathol 1990; 43:377-378.

16) Cook JT, Patel PP, Clark A, Hoppener JW, Lips CJ, Mosselman S, O'Rahilly S, Page RC, Wainscoat JS, Turner RC. Non-linkage of the islet amyloid polypeptide gene with type 2 NIDDM. Diabetologia 1991; 34:103-108.

*17) O'Rahilly S, Choi WH, Patel P, Turner RC, Flier JS, Moller DE. Detection of mutations in insulin-receptor gene in NIDDM patients by analysis of single-stranded conformation polymorphisms. Diabetes 1991; 40:777-782. doi:10.2337/diab.40.6.777.

18) Choi WH, O'Rahilly S, Buse JB, Rees A, Morgan R, Flier JS, Moller DE. Molecular scanning of insulin-responsive glucose transporter (GLUT4) gene in NIDDM subjects. Diabetes 1991; 40:1712-1718. doi:10.2337/diab.40.12.1712.

*19) Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, Chiu KC, O'Rahilly S, Watkins PJ, Wainscoat JS. Linkage of type 2 diabetes to the glucokinase gene. Lancet 1992; 339:1307-1310. doi:10.1016/0140-6736(92)91958-B.

20) O'Rahilly S, Patel P, Lehmann OJ, Tybjaerg-Hansen A, Nerup J, Turner RC, Wainscoat JS. Multipoint linkage analysis of the short arm of chromosome 11 in non-insulin dependent diabetes including maturity onset diabetes of youth. Hum Genet 1992; 89:207-212. doi:10.1007/BF00217125.

21) 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. doi:10.1007/BF02342449.

22) Krook A, Stratton IM, O'Rahilly S. Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulin-dependent diabetes. Hum Mol Genet 1992; 1:391-395. doi:10.1093/hmg/1.6.391.

23) Flier JS, Moller DE, Moses AC, O'Rahilly S, Chaiken RL, Grigorescu F, Elahi D, Kahn BB, Weinreb JE, Eastman R. Insulin-mediated pseudoacromegaly: clinical and biochemical characterization of syndrome of selective insulin resistance. JClin EndocrinolMetab1993; 76:1533-1541. doi:10.1210/jcem.76.6.8388881.

24) 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. doi:10.2337/diab.42.10.1536.

25)Hattersley AT, Saker PJ, Patel P, Lo YM, Page R, O’Rahilly S, Turner RC, Permutt MA, Wainscoat JS. Linkage of maturity-onset diabetes of the young to the glucokinase gene-evidence of genetic heterogeneity. Biochem Soc Trans 1993; 21:24S. doi:10.1042/bst021024s.

*26) Krook A, O'Rahilly S*, Brueton L. Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. Lancet 1993; 342:277-278. doi:10.1016/0140-6736(93)91820-C.

*corresponding author.

*27) 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. doi:10.2337/diab.43.3.357.

28) 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; 43:800-804. doi:10.2337/diab.43.6.800.

29) O'Rahilly S,Gray H,Hattersley A, Vaag A. Insulin resistance as the major cause of impaired glucose tolerance: a self-fulfilling prophesy? Lancet 1994; 344:585-589. doi:10.1016/S0140-6736(94)91969-0.

30) Gray H, Wreghitt T, Stratton IM, Alexander GJM, Turner RC, O'Rahilly S. High prevalence of hepatitis C infection in Afro-Caribbean patients with type 2 diabetes and abnormal liver function tests. Diabet Med 1995; 12:244-249. doi:10.1111/j.1464-5491.1995.tb00466.x.

31) Poulton J, O'Rahilly S, Morten KJ, Clark A. Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome. Diabetologia 1995; 38:868-871.

*32) Krook A, Bell JA, Robertson ME, Brueton L, O'Rahilly S. Prenatal analysis of the insulin receptor gene in a family with leprechaunism. Prenat Diagn 1995; 15:669-671.

33) Swinn RA, Wareham NJ, Gregory R, Curling V, Clark PM, Dalton KJ, Edwards OM, O'Rahilly S. Excessive secretion of insulin precursors characterizes and predicts gestational diabetes. Diabetes 1995; 44:911-915. doi:10.2337/diab.44.8.911.

*34) O’Rahilly S, Gray H, Humphreys PJ, Krook A, Polonsky KS, White A, Gibson S, Taylor K, Carr C. Impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function. NEng J Med 1995; 333:1386-1391. doi:10.1056/NEJM199511233332104.

*35) Krook A, Moller DE, Dib K, O’Rahilly S. Two naturallyoccurring mutant insulin receptors phosphorylate insulin receptor substrate-1 (IRS-1) but fail to mediate the biological effects of insulin. J Biol Chem 1996; 271:7134-7140. doi:10.1074/jbc.271.12.7134.

*36)Krook A, Soos MA, Kumar S, Siddle K, O’Rahilly S. Functional activation of mutant insulin receptor by monoclonal antibody. Lancet 1996; 347:1586-1590. doi:10.1016/S0140-6736(96)91076-4.

37)Talbot JA, Bicknell EJ, Rajkhowa M, Krook A, O’Rahilly S, Clayton RN. Molecular scanning of the insulin receptor gene in women with polycystic ovarian syndrome. J Clin Endocrinol Metab 1996; 81:1979-1983. doi:10.1210/jcem.81.5.8626868.

38)Kumar S, Durrington PN, O’Rahilly S, Laing I, Humphreys PJ, Olukoga AO, Bhatnagar D, Mackness MI, Davis JR, Boulton AJ. Severe insulin resistance, diabetes mellitus, hypertriglyceridemia and pseudoacromegaly. JClin Endocrinol Metab1996; 81:3465-3468. doi:10.1210/jcem.81.10.8855786.

39)Jackson SN, Howlett TA, McNally PG, O’Rahilly S, Trembath RC. Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy. QJM 1997; 90:27-36. doi:10.1093/qjmed/90.1.27.

40)Zaidi FK, Wareham NJ, McCarthy MI, Holdstock J, Kalloo-Hosein H, Krook A, Swinn RA, 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. Diabet Med 1997; 14:228-234. doi:10.1002/(SICI)1096-9136(199703)14:3<228::AID-DIA330>3.0.CO;2-N.

*41) Montague CT, Prins JB, Sanders L, Digby JE, O’Rahilly S. Depot- and sex-specific differences in human leptin mRNA expression: implications for the control of regional fat distribution. Diabetes 1997; 46:342-347. doi:10.2337/diab.46.3.342.

*42)Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O’Rahilly S. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997; 387:903-908.

*43) Jackson RS, Creemers JWM, Ohagi S, Raffin-Sanson M-L, Sanders L, Montague CT, Hutton JC, O’Rahilly S. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet 1997; 16:303-306. doi:10.1038/ng0797-303.

44)Lee PJ, Cranston I, Amiel SA, O’Rahilly S, Green AA. Effect of metformin on glucose disposal and hyperinsulinaemia in a 14-year-old boy with acanthosis nigricans. Horm Res 1997; 48:88-92. doi:10.1159/000185493.

45)Whitehead JP, Humphreys PJ, Dib K, Goding JW, O’Rahilly S. Expression of the putative inhibitor of the insulin receptor tyrosine kinase PC-1 in dermal fibroblasts from patients with syndromes of severe insulin resistance. Clin Endocrinol (Oxf) 1997; 47:65-70. doi:10.1046/j.13652265.1997.2171021.x.

*46)Kalloo-Hosein HE, Whitehead JP, Soos MA, Tavare JM, Siddle K, O’Rahilly S. Differential signaling to glycogen synthesis by the intracellular domain of the insulin versus the insulin-like growth factor-1 receptor: Evidence for studies of TrkC-chimeras. J Biol Chem 1997; 272:24325-24332. doi:10.1074/jbc.272.39.24325.

47)Prins JB, Niesler CU, Winterford CM, Bright NA, Siddle K, O’Rahilly S, Walker NI, Cameron DP. Tumour necrosis factor- induces apoptosis of human adipose cells. Diabetes 1997; 46:1939-1944. doi:10.2337/diab.46.12.1939.

*48) Adams M, Montague CT, Prins JB, Holder JC, Smith SA, Sanders L, Digby JE, Sewter CP, Lazar MA, Chatterjee VKK, O’Rahilly S. Activators of PPAR have depot-specific effects on human preadipocyte differentiation. J Clin Invest 1997; 100:3149-3153. doi:10.1172/JCI119870.

*49)Krook A, Whitehead JP, Dobson SP, Griffiths MR, Ouwens M, Baker C, Hayward AC, Sen SK, Maassen JA, Siddle K, Tavare JM, O’Rahilly S. 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 1997; 272:30208-30214. doi:10.1074/jbc.272.48.30208.

50)Digby JE, Montague CT, Sewter CP, Sanders S, Wilkison WO, O’Rahilly S, Prins JB. Thiazolidinedione exposure increases the expression of uncoupling protein1 in cultured human preadipocytes. Diabetes 1998; 47:138-141. doi:10.2337/diab.47.1.138.

*51)Dib K, Whitehead JP, Humphreys PJ, Soos MA, Baynes K, Kumar S, Harvey T, O’Rahilly S. Impaired activation of phosphoinositide3-kinase by insulin in fibroblasts from patients with severe insulin resistance and pseudoacromegaly: a disorder characterised by selective postreceptor insulin resistance. J Clin Invest 1998; 101:1111-1120. doi:10.1172/JCI119884.

52)Wareham NJ, Swinn R, Fineman MS, Koda JE, Taylor K, Williams DEM, O’Rahilly S. Gestational diabetes mellitus is associated with an increase in the total concentration of amylin molecules. Diabetes Care 1998; 21:668-669. doi:10.2337/diacare.21.4.668.

53)Kalidas K, Dow E, Saker PJ, Wareham NJ, Halsall D, Jackson RS, Chan S-P, Gelding S, Walker M, Kousta E, Johnston DG, O’Rahilly S, McCarthy MI. Prohormone convertase 1 in obesity, gestational diabetes mellitus, and NIDDM: no evidence for a major susceptibility role. Diabetes 1998; 47:287-289. doi:10.2337/diab.47.2.287.

54)Whitehead JP, Humphreys P, Krook A, Jackson R, Hayward A, Lewis H, Siddle K, O’Rahilly S. Molecular scanning of the insulin receptor substrate 1 gene in subjects with severe insulin resistance: detection and functional analysis of a naturally occurring mutation in a YMXM motif. Diabetes 1998; 47:837-839.doi:10.2337/diabetes.47.5.837.

55)Whitehead JP, Soos MA, Jackson R, Tasic V, Kocova M, O’Rahilly S. Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. Diabetes 1998; 47:1362-1364. doi:10.2337/diab.47.8.1362.

*56)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 and omental adipocytes. Diabetes 1998; 47:1384-1391. doi:10.2337/diabetes.47.9.1384.

57)Krook A, Digby J, O’Rahilly S, Zierath JR, Wallberg-Henriksson H. Uncoupling protein 3 is reduced in skeletal muscle of NIDDM patients. Diabetes 1998; 47:1528-1531. doi:10.2337/diabetes.47.9.1528.

*58)Yeo GSH, Farooqi IS, Aminian S, Halsall DJ, Stanhope RG, O’Rahilly S. A frameshift mutation in MC4R associated with dominantly inherited human obesity. Nat Genet 1998; 20:111-112. doi:10.1038/2404.

59)Prins J, Ledgerwood E, Ameloot P, Vandenabeele P, Faraco P, Bright N, O'Rahilly S, Bradley J. 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 1998; 26:S314. doi:10.1042/bst026s314.

60)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. Lab Invest 1998; 78:1583-1589.

61)Ledgerwood EC, Prins JB, Bright NA, Johnson DR, Wolfreys K, Pober JS, O'Rahilly S, Bradley JR. Tumour necrosis factor is trafficked to a mitochondrial tumour necrosis factor binding protein. Biochem Soc Trans 1998;26:S316. doi:10.1042/bst026s316.

62) 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. Biosci Rep 1998; 18:329-340. doi:10.1023/A:1020261316486.

63)Rau H, Reaves BJ, O’Rahilly S, Whitehead JP. Truncated human leptin (133) associated with extreme obesity undergoes proteasomal degradation after defective intracellular transport. Endocrinology 1999; 140:1718-1723. doi:10.1210/endo.140.4.6670.

*64) Farooqi IS, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O’RahillyS. Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N Engl J Med 1999; 341:879-884. doi:10.1056/NEJM199909163411204.

65)Jackson RS, O’Rahilly S, Brain C, Nussey SS. Proopiomelanocortin products and human early-onset obesity. J Clin Endocrinol Metab 1999; 84:819-820.

66) Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, Kocak N, O’Rahilly S, Taylor SI, Patel SB, Bowcock AM. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J Clin EndocrinolMetab 1999; 84:3390-3394.

67) Urso B, Cope DL, Kalloo-Hosein HE, Hayward AC, Whitehead JP, O’Rahilly S, Siddle K. Differences in signaling properties of the cytoplasmic domains of the insulin receptor and insulin-like growth factor receptor in 3T3-L1 adipocytes. J Biol Chem 1999; 274:30864-30873. doi:10.1074/jbc.274.43.30864.

68) Urso B, Brown RA, O’Rahilly S, Shepherd PR, Siddle K. The -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 1999; 460:423-426. doi:10.1016/S0014-5793(99)01388-5.

*69)Barroso I, Gurnell M, Crowley VEF, Agostini M, Schwabe JW, Soos MA, Maslen GLI, Williams TD, Lewis H, Schafer AJ, Chatterjee VKK, O’Rahilly S. Dominantnegative mutations in human PPARassociated with severe insulin resistance, diabetes mellitus and hypertension. Nature 1999; 402:880-883. doi:10.1038/47254.

70)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; 30:1059-1063. doi: 10.1002/hep.510300416.

71)Sewter CP, Digby JE, Blows F, Prins J, O’Rahilly S. Regulation of tumour necrosis factor- release from human adipose tissue in vitro. J Endocrinol 1999; 163:33-38. doi:10.1677/joe.0.1630033.

72)Huxtable SJ, Saker PJ, Haddad L, Walker M, Frayling TM, Levy JC, Hitman GA, O’Rahilly S, Hattersley AT, McCarthy MI. Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternallytransmitted class III VNTR alleles. Diabetes 2000; 49:126-130. doi:10.2337/diabetes.49.1.126.

*73)Shackleton S, Lloyd DJ, Jackson SNJ, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O’Rahilly S, Trembath RC. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 2000; 24:153-156. doi:10.1038/72807.

74)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. JClin EndocrinolMetab 2000; 85:853-857.

75)Baynes KCR, Beeton CA, Panayotou G, Stein R, Soos MA, Hansen T, Simpson H, O’Rahilly S, Shepherd PR, Whitehead JP. Natural variants of human p85 phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity. Diabetologia 2000; 43:321-331. doi:10.1007/s001250050050.

76)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.

77)Challis BG, Yeo GSH, Farooqi IS, Luan J, Aminian S, Halsall DJ, Keogh JM, Wareham NJ, O’Rahilly S. The CART gene and human obesity: mutational analysis and population genetics. Diabetes 2000; 49:872-875. doi:10.2337/diabetes.49.5.872.

78)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.

79)Rau H, Kocova M, O’Rahilly S, Whitehead JP. Naturally occurring amino acid substitutions at Arg1174 in the human insulin receptor result in differential effects on receptor biosynthesis and hybrid formation, leading to discordant clinical phenotypes. Diabetes 2000; 49:1264-1268. doi:10.2337/diabetes.49.7.1264.

*80)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; 106:271-279. doi:10.1172/JCI9397.

81)Farooqi IS, Jones MK, Evans M, O’Rahilly S, Hodges J. Triple H syndrome: a novel autoimmune endocrinopathy characterised by dysfunction of the hippocampus, hair follicle and hypothalamic-pituitary-adrenal axis. J Clin EndocrinolMetab 2000; 85:2644-2648.

82)Ledgerwood EC, O’Rahilly S, Surani MA. The imprinted gene Peg3 is not essential for tumor necrosis factor  signaling. Lab Invest 2000; 80:1509-1511.

83)Bano G, Rodin DA, White A, O’Rahilly S, Nussey SS. Is the defect in pro-hormone processing in type 2 diabetes mellitus restricted to the beta cell? Diabet Med 2001; 18:17-21. doi:10.1046/j.1464-5491.2001.00397.x.

84)Luan J, Browne PO, Harding A-H, Halsall DJ, O’Rahilly S, Chatterjee VKK, Wareham NJ. Evidence for gene-nutrient interaction at the PPAR locus. Diabetes 2001; 50:686-689. doi:10.2337/diabetes.50.3.686.

85)Halsall DJ, Luan J, Saker P, Huxtable S, Farooqi IS, Keogh JM, 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.

*86)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 and GLUT4 levels at the plasma membrane. Evidence for involvement of lipoxygenase metabolites and peroxisome proliferator-activated receptor gamma. J Biol Chem 2001; 276:9149-9157. doi:10.1074/jbc.M009817200.

87)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. Int J Obes Relat Metab Disord2001; 25:1027-1033.

88) Urso B, Niesler CU, O’Rahilly S, Siddle K. Comparison of anti-apoptotic signalling by the insulin receptor and IGF-1 receptor in preadipocytes and adipocytes. Cell Signal 2001; 13:279-285. doi:10.1016/S0898-6568(01)00130-9.

89)Ogilvy-Stuart AL, Soos MA, Hands SJ, Anthony MY, Dunger DB, O’Rahilly S. Hypoglycaemia and resistance to ketoacidosis in a subject without functional insulin receptors. J Clin Endocrinol Metab 2001; 86:3319-3326.

90)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. Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet 2001; 69:544-552. doi:10.1086/323315.

91)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. A genomewide scan for loci predisposing to type 2 diabetes in a UK 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 2001; 69:553-569.

*92)Magré J, Delépine M, Khallouf E, Gedde-Dahl Jr T, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, BSCL Working Group, Lathrop M, Capeau J. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 2001; 28:365-370. doi:10.1038/ng585.

*93) Savage DB, Sewter CP, Klenk ES, Segal DG, Vidal-Puig A, Considine RV, O’Rahilly S. Resistin/Fizz3 expression in relation to obesity and peroxisome proliferator-activated receptor-gamma action in humans. Diabetes 2001; 50:2199-2202. doi:10.2337/diabetes.50.10.2199.

*94)Nugent C, Prins JB, Whitehead JP, Savage DB, Wentworth JM, Chatterjee VKK, O’Rahilly S. Potentiation of glucose uptake in 3T3-L1 adipocytes by PPAR agonists is maintained in cells expressing a PPAR dominant-negative mutant: evidence for selectivity in the downstream responses to PPAR activation. Mol Endocrinol 2001; 15:1729-1738. doi:10.1210/mend.15.10.0715.

*95)Farooqi IS, Keogh JM, Kamath S, Jones S, Gibson WT, Trussell R, Jebb SA, Lip GYH, O’Rahilly S. Metabolism: partial leptin deficiency and human adiposity. Nature 2001; 414:34-35. doi:10.1038/35102112.

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