commentaries, letters, and reviews - … · web view*48) krook a, whitehead jp, dobson sp,...

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. http://www.ncbi.nlm.nih.gov/pubmed/2874367.

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. http://www.ncbi.nlm.nih.gov/pubmed/3315796.

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. http://www.ncbi.nlm.nih.gov/pubmed/2441919.

*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. http://www.ncbi.nlm.nih.gov/pubmed/3107658.

5) O'Rahilly S, Turner RC. Linkage analysis of the receptor gene and MODY. Diabetologia 1988; 31:185-186. http://www.ncbi.nlm.nih.gov/pubmed/3371578.

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. http://www.ncbi.nlm.nih.gov/pubmed/2898769.

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. http://www.ncbi.nlm.nih.gov/pubmed/2967142.

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. http://www.ncbi.nlm.nih.gov/pubmed/3234633.

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. http://www.ncbi.nlm.nih.gov/pubmed/3050363.

*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. http://www.ncbi.nlm.nih.gov/pubmed/3283553.

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. http://www.ncbi.nlm.nih.gov/pubmed/2805586.

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. http://www.ncbi.nlm.nih.gov/pubmed/2569430.

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. http://www.ncbi.nlm.nih.gov/pubmed/2571124.

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. http://www.ncbi.nlm.nih.gov/pubmed/2134213.

15) Patel P, O'Rahilly S, Buckle V, Nakamura Y, Turner RC, Wainscoat JS. Chromosome 11 allele loss in sporadic insulinoma. J Clin Pathol 1990; 43:377-378. http://www.ncbi.nlm.nih.gov/pubmed/2164532.

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. http://www.ncbi.nlm.nih.gov/pubmed/1676684.

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*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. http://www.ncbi.nlm.nih.gov/pubmed/2040394.

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. http://www.ncbi.nlm.nih.gov/pubmed/1756912.

*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. http://www.ncbi.nlm.nih.gov/pubmed/1349989.

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. http://www.ncbi.nlm.nih.gov/pubmed/1587533.

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. http://www.ncbi.nlm.nih.gov/pubmed/1521731.

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. http://www.ncbi.nlm.nih.gov/pubmed/1301912.

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. J Clin Endocrinol Metab 1993; 76:1533-1541. doi:10.1210/jcem.76.6.8388881. http://www.ncbi.nlm.nih.gov/pubmed/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. http://www.ncbi.nlm.nih.gov/pubmed/8375595.

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. http://www.ncbi.nlm.nih.gov/pubmed/8449303.

*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. http://www.ncbi.nlm.nih.gov/pubmed/8101305.*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. http://www.ncbi.nlm.nih.gov/pubmed/8314008.

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. http://www.ncbi.nlm.nih.gov/pubmed/8194666.

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. http://www.ncbi.nlm.nih.gov/pubmed/7914964.

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. http://www.ncbi.nlm.nih.gov/pubmed/7538925.

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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. http://www.ncbi.nlm.nih.gov/pubmed/7556992.

*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. http://www.ncbi.nlm.nih.gov/pubmed/8532629.

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. http://www.ncbi.nlm.nih.gov/pubmed/7621996.

*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. N Eng J Med 1995; 333:1386-1391. doi:10.1056/NEJM199511233332104. http://www.ncbi.nlm.nih.gov/pubmed/7477119.

*35) Krook A, Moller DE, Dib K, O’Rahilly S. Two naturally occurring mutant insulin receptors phosphorylate insulin receptor substrate-1 (IRS-1) but fail to mediate the biological effects of insulin. J Biol Chem 1996; 271:7134-7140. doi:10.1074/jbc.271.12.7134. http://www.ncbi.nlm.nih.gov/pubmed/8636149.

*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. http://www.ncbi.nlm.nih.gov/pubmed/8667867.

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. http://www.ncbi.nlm.nih.gov/pubmed/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. J Clin Endocrinol Metab 1996; 81:3465-3468. doi:10.1210/jcem.81.10.8855786. http://www.ncbi.nlm.nih.gov/pubmed/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. http://www.ncbi.nlm.nih.gov/pubmed/9093586.

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. http://www.ncbi.nlm.nih.gov/pubmed/9088772.

*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. http://www.ncbi.nlm.nih.gov/pubmed/9032087

*42) 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. http://www.ncbi.nlm.nih.gov/pubmed/9207799.

43) 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. http://www.ncbi.nlm.nih.gov/pubmed/9251926.

44) 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.1365-2265.1997.2171021.x. http://www.ncbi.nlm.nih.gov/pubmed/9302374.

*45) 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

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receptor: Evidence for studies of TrkC-chimeras. J Biol Chem 1997; 272:24325-24332. doi:10.1074/jbc.272.39.24325. http://www.ncbi.nlm.nih.gov/pubmed/9305889.

46) 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. http://www.ncbi.nlm.nih.gov/pubmed/9392477.

*47) 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. http://www.ncbi.nlm.nih.gov/pubmed/9399962.

*48) 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. http://www.ncbi.nlm.nih.gov/pubmed/9374504.

49) Digby JE, Montague CT, Sewter CP, Sanders S, Wilkison WO, O’Rahilly S, Prins JB. Thiazolidinedione exposure increases the expression of uncoupling protein 1 in cultured human preadipocytes. Diabetes 1998; 47:138-141. doi:10.2337/diab.47.1.138. http://www.ncbi.nlm.nih.gov/pubmed/9421389.

*50) Dib K, Whitehead JP, Humphreys PJ, Soos MA, Baynes K, Kumar S, Harvey T, O’Rahilly S. Impaired activation of phosphoinositide 3-kinase by insulin in fibroblasts from patients with severe insulin resistance and pseudoacromegaly: a disorder characterised by selective postreceptor insulin resistance. J Clin Invest 1998; 101:1111-1120. doi:10.1172/JCI119884. http://www.ncbi.nlm.nih.gov/pubmed/9486982.

51) 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. http://www.ncbi.nlm.nih.gov/pubmed/9571363.

52) 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. http://www.ncbi.nlm.nih.gov/pubmed/9519729.

53) 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. http://www.ncbi.nlm.nih.gov/pubmed/9588458.

54) 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. http://www.ncbi.nlm.nih.gov/pubmed/9703342.

*55) 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. http://www.ncbi.nlm.nih.gov/pubmed/9726225.

56) 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. http://www.ncbi.nlm.nih.gov/pubmed/9726246.

*57) 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. http://www.ncbi.nlm.nih.gov/pubmed/9771698.

58) 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. http://www.ncbi.nlm.nih.gov/pubmed/10047828.

59) 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. http://www.ncbi.nlm.nih.gov/pubmed/9881958.

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60) 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. http://www.ncbi.nlm.nih.gov/pubmed/10047830.

61) 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. http://www.ncbi.nlm.nih.gov/pubmed/10357175.

62) 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. http://www.ncbi.nlm.nih.gov/pubmed/10098508.

*63) Farooqi IS, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O’Rahilly S. Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N Engl J Med 1999; 341:879-884. doi:10.1056/NEJM199909163411204. http://www.ncbi.nlm.nih.gov/pubmed/10486419.

64) Jackson RS, O’Rahilly S, Brain C, Nussey SS. Proopiomelanocortin products and human early-onset obesity. J Clin Endocrinol Metab 1999; 84:819-820. http://www.ncbi.nlm.nih.gov/pubmed/10022461.

65) 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 Endocrinol Metab 1999; 84:3390-3394. http://www.ncbi.nlm.nih.gov/pubmed/10487716.

66) 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. http://www.ncbi.nlm.nih.gov/pubmed/10521479.

67) 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. http://www.ncbi.nlm.nih.gov/pubmed/10556509.

*68) 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. Dominant negative mutations in human PPAR associated with severe insulin resistance, diabetes mellitus and hypertension. Nature 1999; 402:880-883. doi:10.1038/47254. http://www.ncbi.nlm.nih.gov/pubmed/10622252.

69) 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. http://www.ncbi.nlm.nih.gov/pubmed/10498660.

70) 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. http://www.ncbi.nlm.nih.gov/pubmed/10495404.

71) Huxtable SJ, Saker PJ, Haddad L, Walker M, Frayling TM, Levy JC, Hitman GA, O’Rahilly S, Hattersley AT, McCarthy MI. Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III VNTR alleles. Diabetes 2000; 49:126-130. doi:10.2337/diabetes.49.1.126. http://www.ncbi.nlm.nih.gov/pubmed/10615960.

*72) 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. http://www.ncbi.nlm.nih.gov/pubmed/10655060.

73) 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; 85:853-857. http://www.ncbi.nlm.nih.gov/pubmed/10690901.

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74) 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. http://www.ncbi.nlm.nih.gov/pubmed/10768093.

75) 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. http://www.ncbi.nlm.nih.gov/pubmed/10849580.

76) 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. http://www.ncbi.nlm.nih.gov/pubmed/10905499.

77) 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. http://www.ncbi.nlm.nih.gov/pubmed/10903138.

78) 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. http://www.ncbi.nlm.nih.gov/pubmed/10909987.

*79) 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. http://www.ncbi.nlm.nih.gov/pubmed/10903343.

80) 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 Endocrinol Metab 2000; 85:2644-2648. http://www.ncbi.nlm.nih.gov/pubmed/10946860.

81) 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. http://www.ncbi.nlm.nih.gov/pubmed/11045567.

82) 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. http://www.ncbi.nlm.nih.gov/pubmed/11168336.

83) 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. http://www.ncbi.nlm.nih.gov/pubmed/11246892.

84) 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. http://www.ncbi.nlm.nih.gov/pubmed/11319649.

*85) 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. http://www.ncbi.nlm.nih.gov/pubmed/11124961.

86) 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 Disord 2001; 25:1027-1033. http://www.ncbi.nlm.nih.gov/pubmed/11443502.

87) 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. http://www.ncbi.nlm.nih.gov/pubmed/11306245.

88) 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. http://www.ncbi.nlm.nih.gov/pubmed/11443207.

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89) 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. http://www.ncbi.nlm.nih.gov/pubmed/11481585.

90) 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. http://www.ncbi.nlm.nih.gov/pubmed/11484155.

*91) 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. http://www.ncbi.nlm.nih.gov/pubmed/11479539.

*92) 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. http://www.ncbi.nlm.nih.gov/pubmed/11574398.

*93) 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. http://www.ncbi.nlm.nih.gov/pubmed/11579205.

*94) 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. http://www.ncbi.nlm.nih.gov/pubmed/11689931.

95) Meirhaeghe A, Luan J, Selberg-Franks P, Hennings S, Mitchell J, Halsall D, O’Rahilly S, Wareham NJ. The effect of the Gly16Arg polymorphism of the β2-adrenergic receptor gene on plasma free fatty acid levels is modulated by physical activity. J Clin Endocrinol Metab 2001; 86:5881-5887. doi:10.1210/jcem.86.12.8103. http://www.ncbi.nlm.nih.gov/pubmed/11739457.

96) Millington GWM, Tung YCL, Hewson AK, O’Rahilly S, Dickson SL. Differential effects of -, - and 2-melanocyte-stimulating hormones on hypothalamic neuronal activation and feeding in the fasted rat. Neuroscience 2001; 108:437-445. doi:10.1016/S0306-4522(01)00428-6. http://www.ncbi.nlm.nih.gov/pubmed/11738258.

97) Soos MA, Jensen J, Brown RA, O’Rahilly S, Shepherd PR, Whitehead JP. Class II phosphoinositide 3-kinase is activated by insulin but not by contraction in skeletal muscle. Arch Biochem Biophys 2001; 396:244-248. doi:10.1006/abbi.2001.2587. http://www.ncbi.nlm.nih.gov/pubmed/11747303.

98) 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 UK family data set ascertained for type 2 diabetes. Am J Hum Genet 2002; 70:543-546. doi:10.1086/338760. http://www.ncbi.nlm.nih.gov/pubmed/11753821.

99) Combs TP, Wagner JA, Berger J, Doebber T, Wang W-J, Zhang BB, Tanen M, Berg AH, O’Rahilly S, Savage DB, Chatterjee VKK, Weiss S, Larson PJ, Gottesdiener KM, Gertz BJ, Charron MJ, Scherer PE, Moller DE. Induction of Acrp30 levels by PPAR agonists: a potential mechanism of insulin sensitization. Endocrinology 2002; 143:998-1007. doi:10.1210/endo.143.3.8662. http://www.ncbi.nlm.nih.gov/pubmed/11861525.

*100) Sewter CP, Blows F, Vidal-Puig A, O’Rahilly S. Regional differences in the response of human pre-adipocytes to PPAR and RXR agonists. Diabetes 2002; 51:718-723. doi:10.2337/diabetes.51.3.718. http://www.ncbi.nlm.nih.gov/pubmed/11872672.

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101) Lelliott CJ, Logie L, Sewter CP, 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; 87:728-734. http://www.ncbi.nlm.nih.gov/pubmed/11836312.

102) Sewter C, Berger D, Considine RV, Medina G, Rochford JJ, Ciaraldi T, Henry R, Dohm L, Flier JS, O’Rahilly S, Vidal-Puig A. Human obesity and type 2 diabetes are associated with alterations in SREBP1 isoform expression that are reproduced ex vivo by TNF. Diabetes 2002; 51:1035-1041. doi:10.2337/diabetes.51.4.1035. http://www.ncbi.nlm.nih.gov/pubmed/11916923.

103) Singhal A, Farooqi IS, O’Rahilly S, Cole TJ, Fewtrell M, Lucas A. Early nutrition and leptin concentrations in later life. Am J Clin Nutr 2002; 75:993-999. http://www.ncbi.nlm.nih.gov/pubmed/12036804.

104) Roche HM, Noone E, Sewter C, McBennett S, Savage DB, 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 LXR. Diabetes 2002; 51:2037-2044. doi:10.2337/diabetes.51.7.2037. http://www.ncbi.nlm.nih.gov/pubmed/12086931.

*105) Challis BG, Pritchard LE, Creemers JWM, Delplanque J, Keogh JM, Luan J, Wareham NJ, Yeo GSH, 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. Hum Mol Genet 2002; 11:1997-2004. doi:10.1093/hmg/11.17.1997. http://www.ncbi.nlm.nih.gov/pubmed/12165561.

106) Berger D, Barroso I, Soos MA, Yeo GSH, Schafer AJ, O’Rahilly S, Whitehead JP. Genetic variants of insulin receptor substrate-1 (IRS-1) in syndromes of severe insulin resistance. Functional analysis of Ala513Pro and Gly1158Glu IRS-1. Diabet Med 2002; 19:804-809. doi:10.1046/j.1464-5491.2002.00779.x. http://www.ncbi.nlm.nih.gov/pubmed/12358865.

*107) Savage DB, Agostini M, Barroso I, Gurnell M, Luan J, Meirhaeghe A, Harding A-H, 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 VKK, Schafer AJ. Digenic inheritance of severe insulin resistance in a human pedigree. Nat Genet 2002; 31:379-384. doi:10.1038/ng926. http://www.ncbi.nlm.nih.gov/pubmed/12118251.

108) Sewter C, Blows F, Considine R, Vidal-Puig A, O’Rahilly S. Differential effects of adiposity on PPAR1 and 2 mRNA expression in human adipocytes. J Clin Endocrinol Metab 2002; 87:4203-4207. doi:10.1210/jc.2002-011511. http://www.ncbi.nlm.nih.gov/pubmed/12213872.

109) 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 C, Lemos Silveira E, Homero D'Abronzo F, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet 2002; 39:722-723. doi:10.1136/jmg.39.10.722. http://www.ncbi.nlm.nih.gov/pubmed/12362029.

*110) 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; 110:1093-1103. doi:10.1172/JCI15693. http://www.ncbi.nlm.nih.gov/pubmed/12393845.

*111) Mulligan C, Rochford JJ, Denyer G, Stephens R, Yeo GSH, Freeman T, Siddle K, O’Rahilly S. Microarray analysis of insulin and insulin-like IGF-1 receptor signaling reveals the selective up-regulation of the mitogen heparin-binding EGF-like growth factor by IGF-1. J Biol Chem 2002; 277:42480-42487. doi:10.1074/jbc.M206206200. http://www.ncbi.nlm.nih.gov/pubmed/12213819.

112) Singhal A, Farooqi IS, Cole TJ, 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; 106:1919-1924. doi:10.1161/01.CIR.0000033219.24717.52. http://www.ncbi.nlm.nih.gov/pubmed/12370213.

113) 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 that is unable to bind insulin and causes Donohue’s syndrome in a human subject. Endocrinology 2003; 144:631-637. doi:10.1210/en.2002-220815. http://www.ncbi.nlm.nih.gov/pubmed/12538626.

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114) Haqq AM, Farooqi IS, O’Rahilly S, Stadler DD, Rosenfeld RG, Pratt KL, LaFranchi SH, Purnell JQ. Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome. J Clin Endocrinol Metab 2003; 88:174-178. doi:10.1210/jc.2002-021052. http://www.ncbi.nlm.nih.gov/pubmed/12519848.

*115) Yeo GSH, Lank EJ, Farooqi IS, Keogh JM, Challis BG, O’Rahilly S. Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. Hum Mol Genet 2003; 12:561-574. doi:10.1093/hmg/ddg057. http://www.ncbi.nlm.nih.gov/pubmed/12588803.

*116) 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. Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor PPAR. Diabetes 2003; 52:910-917. doi:10.2337/diabetes.52.4.910. http://www.ncbi.nlm.nih.gov/pubmed/12663460.

*117) Farooqi IS, Keogh JM, Yeo GSH, Lank EJ, Cheetham T, O’Rahilly S. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med 2003; 348:1085-1095. doi:10.1056/NEJMoa022050. http://www.ncbi.nlm.nih.gov/pubmed/12646665.

118) Hung CC, Farooqi IS, Ong K, Luan J, Keogh JM, Pembrey M, Yeo GSH, Dunger D, Wareham NJ, O'Rahilly S. Contribution of variants in the small heterodimer partner gene to birthweight, adiposity and insulin levels: mutational analysis and association studies in multiple populations. Diabetes 2003; 52:1288-1291. doi:10.2337/diabetes.52.5.1288. http://www.ncbi.nlm.nih.gov/pubmed/12716767.

119) Bhattacharyya S, Luan J, Challis BG, Schmitz C, Clarkson P, Franks P, Middelberg R, Keogh JM, Farooqi IS, Montague C, Brennand J, Wareham NJ, 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; 52:1296-1299. doi:10.2337/diabetes.52.5.1296. http://www.ncbi.nlm.nih.gov/pubmed/12716769.

120) 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 and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility. Diabetes 2003; 52:1300-1305. doi:10.2337/diabetes.52.5.1300. http://www.ncbi.nlm.nih.gov/pubmed/12716770.

121) Meirhaeghe A, Crowley V, Lenaghan C, Lelliott C, Green K, Stewart A, Hart K, Schinner S, Sethi JK, Yeo GSH, Brand MD, Cortright R, O’Rahilly S, Montague C, Vidal-Puig A. Characterization of the human, mouse and rat PGC-1β (peroxisome-proliferator-activated receptor-gamma co-activator 1β) gene in vitro and in vivo. Biochem J 2003; 373:155-165. doi:10.1042/BJ20030200. http://www.ncbi.nlm.nih.gov/pubmed/12678921.

122) 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; 88:3258-3263. doi:10.1210/jc.2002-021426. http://www.ncbi.nlm.nih.gov/pubmed/12843173.

123) 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; 88:4840-4847. doi:10.1210/jc.2003-030855. http://www.ncbi.nlm.nih.gov/pubmed/14557463.

*124) 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 -cell function as well as insulin action. PLoS Biol 2003; 1:E20. doi:10.1371/journal.pbio.0000020. http://www.ncbi.nlm.nih.gov/pubmed/14551916.(*joint corresponding author)

*125) 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 PJ, Lindley KJ, O’Rahilly S. Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest 2003; 112:1550-1560. doi:10.1172/JCI200318784. http://www.ncbi.nlm.nih.gov/pubmed/14617756.

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126) Franks PW, Barroso I, Luan J, Ekelund U, Crowley V, Brage S, Sandhu MS, Jakes R, Middelberg R, Harding AH, Schafer A, O’Rahilly S, Wareham NJ. PGC-1 genotype modifies the association of volitional energy expenditure with VO2max. Med Sci Sports Exerc 2003; 35:1998-2004. http://www.ncbi.nlm.nih.gov/pubmed/14652494.

127) Donohoue P, Tao YX, Collins M, Yeo GSH, O’Rahilly S, Segaloff DL. Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female. J Clin Endocrinol Metab 2003; 88:5841-5845. doi:10.1210/jc.2003-030903. http://www.ncbi.nlm.nih.gov/pubmed/14671178.

128) Okubo Y, Siddle K, Firth H, O’Rahilly S, Wilson L, Willatt L, Fukushima T, Takahashi S, Petry CJ, Saukkonen T, Stanhope R, Dunger DB. 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; 88:5981-5988. doi:10.1210/jc.2002-021080. http://www.ncbi.nlm.nih.gov/pubmed/14671200.

*129) 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, Slaugenhaupt S, Gusella J, O’Rahilly S, Carlton M, Crowley W, Aparicio S, Colledge W. The GPR54 gene as a regulator of puberty. N Engl J Med 2003; 349:1614-1627. doi:10.1056/NEJMoa035322. http://www.ncbi.nlm.nih.gov/pubmed/14573733.

130) 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 Commun 2003; 311:915-919. doi:10.1016/j.bbrc.2003.10.089. http://www.ncbi.nlm.nih.gov/pubmed/14623268.

131) 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-1 is reduced in the adipose tissue of morbidly obese subjects. Int J Obes Relat Metab Disord 2004; 28:176-179. doi:10.1038/sj.ijo.0802482. http://www.ncbi.nlm.nih.gov/pubmed/14557831.

132) Agostini M, Gurnell M, Savage DB, Wood E, Smith A, Rajanayagam O, Garnes K, Levinson S, Xu HE, Schwabe J, Willson T, O’Rahilly S, Chatterjee VKK. Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human PPAR. Endocrinology 2004; 145:1527-1538. doi:10.1210/en.2003-1271. http://www.ncbi.nlm.nih.gov/pubmed/14657011.

133) Franks P, Luan J, Browne P, Harding AH, O’Rahilly S, Chatterjee VKK, Wareham NJ. Does peroxisome proliferator-activated receptor genotype (Pro12ala) modify the association of physical activity and dietary fat with fasting insulin level? Metabolism 2004; 53:11-16. doi:10.1016/j.metabol.2003.08.005. http://www.ncbi.nlm.nih.gov/pubmed/14681835.

134) Franks P, Bhattacharyya S, Luan J, Montague C, Brennand J, Challis BG, Brage S, Ekelund U, Middelberg R, O’Rahilly S, Wareham NJ. Association between physical activity and blood pressure is modified by variants in the G-protein coupled receptor 10. Hypertension 2004; 43:224-228. doi:10.1161/01.HYP.0000109319.63240.08. http://www.ncbi.nlm.nih.gov/pubmed/14691196.

135) Hussain K, Bodamer OAF, Cameron FJ, Camacho-Hubner C, Soos MA, Jones J, Krywawych S, O’Rahilly S, Aynsley-Green A. Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. Horm Res 2004; 61:222-227. doi:10.1159/000076553. http://www.ncbi.nlm.nih.gov/pubmed/14764948.

136) Challis BG, Luan J, Keogh JM, Wareham NJ, Farooqi IS and O'Rahilly S. 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; 28:442-446. doi:10.1038/sj.ijo.0802564. http://www.ncbi.nlm.nih.gov/pubmed/14724656.

*137) Laudes M, Christodoulides C, Sewter C, Rochford JJ, 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; 279:11711-11718. doi:10.1074/jbc.M310240200. http://www.ncbi.nlm.nih.gov/pubmed/14701838.

*138) Challis BG, Coll AP, Yeo GSH, 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. Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY3-36. Proc Natl Acad Sci USA 2004; 101:4695-4700. doi:10.1073/pnas.0306931101. http://www.ncbi.nlm.nih.gov/pubmed/15070780.

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139) Laudes M, Barroso I, Luan J, Soos MA, Yeo GSH, Meirhaeghe A, Logie L, Vidal-Puig A, Schafer AJ, Wareham NJ, O'Rahilly S. Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes. Diabetes 2004; 53:842-846. doi:10.2337/diabetes.53.3.842. http://www.ncbi.nlm.nih.gov/pubmed/14988272.

*140) 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, Alban Davies H, Schafer AJ, Stoffel M, O’Rahilly S*, Barroso I. A family with severe insulin resistance and diabetes mellitus due to a missense mutation in AKT2. Science 2004; 304:1325-1328. doi:10.1126/science.1096706. http://www.ncbi.nlm.nih.gov/pubmed/15166380.(*corresponding author)

141) Gibson WT, Pissios P, Trombly DJ, Luan J, Keogh JM, Wareham NJ, Maratos-Flier E, O’Rahilly S, Farooqi IS. Melanin-concentrating hormone receptor mutations and human obesity: functional analysis. Obes Res 2004; 12:743-749. doi:10.1038/oby.2004.89. http://www.ncbi.nlm.nih.gov/pubmed/15166293.

142) Savage DB, McFarlane I, Barroso I, Soos MA, Powlson A, Thomas EL, Bell JD, Scobie I, Belchetz PE, Kelly WF, Halsall DJ, Schafer AJ, O’Rahilly S. Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. Diabetologia 2004; 47:753-756. doi:10.1007/s00125-004-1360-4. http://www.ncbi.nlm.nih.gov/pubmed/15298354.

143) 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; 82:426-429. doi:10.1139/y04-025. http://www.ncbi.nlm.nih.gov/pubmed/15381968.

144) Javor ED, Moran SA, Young JR, Cochran EK, DePaoli AM, Arioglu Oral E, 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; 89:3199-3207. doi:10.1210/jc.2003-032140. http://www.ncbi.nlm.nih.gov/pubmed/15240593.

145) Bhattacharyya S, Luan J, Farooqi IS, Keogh JM, 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; 183:115-120. doi:10.1677/joe.1.05830. http://www.ncbi.nlm.nih.gov/pubmed/15525579.

*146) Rochford JJ, Semple RK, Laudes M, Boyle K, Christodoulides C, Mulligan C, Lelliott C, Schinner S, Hadaschik D, Mahadevan M, Sethi J, Vidal-Puig A, O’Rahilly S. ETO/MTG8 is an inhibitor of C/EBPβ activity and a regulator of early adipogenesis. Mol Cell Biol 2004; 24:9863-9872. doi:10.1128/MCB.24.22.9863-9872.2004. http://www.ncbi.nlm.nih.gov/pubmed/15509789.

147) Coll A, Challis BG, Yeo GSH, Snell K, Piper S, Halsall D, Thresher R, O’Rahilly S. The effects of pro-opiomelanocortin deficiency on murine adrenal development and responsiveness to adrenocorticotropin. Endocrinology 2004; 145:4721-4727. doi:10.1210/en.2004-0491. http://www.ncbi.nlm.nih.gov/pubmed/15231703.

*148) Yeo GSH, Hung CC, Rochford JJ, Keogh JM, 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; 7:1187-1189. doi:10.1038/nn1336. http://www.ncbi.nlm.nih.gov/pubmed/15494731.(*corresponding author)

149) Sarker A, Semple RK, Dinneen S, O’Rahilly S, Martin S. Severe hypo--lipoproteinemia during treatment with rosiglitazone. Diabetes Care 2004; 27:2577-2580. doi:10.2337/diacare.27.11.2577. http://www.ncbi.nlm.nih.gov/pubmed/15504988.

150) Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O’Rahilly S, Trussell RA. Congenital leptin deficiency due to homozygosity for the Δ133G mutation: report of another case and evaluation of response to four years of leptin therapy. J Clin Endocrinol Metab 2004; 89:4821-4826. doi:10.1210/jc.2004-0376. http://www.ncbi.nlm.nih.gov/pubmed/15472169.

151) Hung CC, Pirie F, Luan J, Lank E, Motala A, Yeo GSH, 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; 53:2461-2466. doi:10.2337/diabetes.53.9.2461. http://www.ncbi.nlm.nih.gov/pubmed/15331560.

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152) 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; 47:2168-2175. doi:10.1007/s00125-004-1575-4. http://www.ncbi.nlm.nih.gov/pubmed/15662557.

*153) Savage DB, Murgatroyd P, Chatterjee VKK, O’Rahilly S. Energy expenditure and adaptive responses to an acute hypercaloric fat load in humans with lipodystrophy. J Clin Endocrinol Metab 2005; 90:1446-1452. doi:10.1210/jc.2004-1494. http://www.ncbi.nlm.nih.gov/pubmed/15613417.

154) 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 hypgonadism. J Clin Endocrinol Metab 2005; 90:1849-1855. doi:10.1210/jc.2004-1418. http://www.ncbi.nlm.nih.gov/pubmed/15598687.

*155) Semple RK, Meirhaeghe A, Vidal-Puig AJ, Schwabe JWR, Wiggins D, Gibbons GF, Gurnell M, Chatterjee VKK, O’Rahilly S. A dominant negative human PPAR is a constitutive transcriptional corepressor and inhibits signaling through all PPAR isoforms. Endocrinology 2005; 146:1871-1882. doi:10.1210/en.2004-1405. http://www.ncbi.nlm.nih.gov/pubmed/15661858.

156) Riserus U, Tan GD, Fielding BA, Neville MJ, Currie J, Savage DB, Chatterjee VKK, 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 PPAR. Diabetes 2005; 54:1379-1384. doi:10.2337/diabetes.54.5.1379. http://www.ncbi.nlm.nih.gov/pubmed/15855323.

157) Medina-Gomez G, Virtue S, Lelliott C, Boiani R, Campbell M, Christodoulides C, Perrin C, Jimenez-Linan M, Blount M, Dixon J, Zhan D, Thresher RR , Aparicio A, Carlton M, Colledge W, Kettunen M, Seppänen-Laakso T, Sethi J, O’ Rahilly S, Brindle K, Cinti S, Oresic M, Burcelin M, Vidal-Puig A. The link between nutritional status and insulin sensitivity is dependent on the adipocyte-specific PPAR2 isoform. Diabetes 2005; 54:1706-1716. doi:10.2337/diabetes.54.6.1706. http://www.ncbi.nlm.nih.gov/pubmed/15919792.

158) Lelliott CJ, López M, Curtis K, Parker N, Laudes M, Yeo GSH, Jimenez-Liñan M, Grosse J, Saha S, Wiggins D, Hauton D, Brand M, O’Rahilly S, Griffin J, Gibbons G, 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; 19:1108-1119. doi:10.1096/fj.04-3196com. http://www.ncbi.nlm.nih.gov/pubmed/15985534.

159) Jitrapakdee S, Slawik M, Medina-Gomez G, Campbell M, Wallace JC, Sethi J, O’Rahilly S, Vidal-Puig AJ. The PPAR regulates murine pyruvate caboxylase gene expression in vivo and in vitro. J Biol Chem 2005; 280:27466-27476. doi:10.1074/jbc.M503836200. http://www.ncbi.nlm.nih.gov/pubmed/15917242.

*160) Coll AP, Challis BG, Lopez M, Piper S, Yeo GSH, O’Rahilly S. Proopiomelanocortin-deficient mice are hypersensitive to the adverse metabolic effects of glucocorticoids. Diabetes 2005; 54:2269-2276. doi:10.2337/diabetes.54.8.2269. http://www.ncbi.nlm.nih.gov/pubmed/16046291.

161) 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; 13:1476-1484. doi:10.1038/oby.2005.178. http://www.ncbi.nlm.nih.gov/pubmed/16129731.

162) Franks P, Luan J, I Barroso, Brage S, Gonzalez Sanchez JL, Ekelund U, Serrano Rios M, Schafer A, O’Rahilly S, Wareham NJ. Variation in the eNOS gene modifies the association between total energy expenditure and glucose intolerance. Diabetes 2005; 54:2795-2801. doi:10.2337/diabetes.54.9.2795 . http://www.ncbi.nlm.nih.gov/pubmed/16123371.

163) 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; 48:2013-2017. doi:10.1007/s00125-005-1902-4. http://www.ncbi.nlm.nih.gov/pubmed/16132956.

164) Farooqi IS, O’Rahilly S. New advances in the genetics of early onset obesity. Int J Obes (Lond) 2005; 29:1149-1152. doi:10.1038/sj.ijo.0803056. http://www.ncbi.nlm.nih.gov/pubmed/16155585.

165) 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 signalling. Am J Physiol Endocrinol Metab 2006; 290:E154-162. doi:10.1152/ajpendo.00330.2005. http://www.ncbi.nlm.nih.gov/pubmed/16118249.

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*166) Lee YS, Challis BG, Thompson DA, Yeo GSH, 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 ß-melanocyte stimulating hormone in the control of human energy balance. Cell Metab 2006; 3:135-140. doi:10.1016/j.cmet.2006.01.006. http://www.ncbi.nlm.nih.gov/pubmed/16459314.(*corresponding author)

167) Christoudoulides C, Scarda A, Granzotto M, Milan G, Dalla Nora E, Keogh JM, 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. doi:10.1007/s00125-006-0144-4. http://www.ncbi.nlm.nih.gov/pubmed/16477437.

168) Bhattacharyya S, Luan J, Challis BG, Keogh J, Montague C, Brennand J, Morten J, Lowenbein 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; 47:761-766. doi:10.1194/jlr.M500338-JLR200. http://www.ncbi.nlm.nih.gov/pubmed/16436372.

169) 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; 49:501-505. doi:10.1007/s00125-005-0130-2. http://www.ncbi.nlm.nih.gov/pubmed/16435105.

170) Tuthill A, Slawik H, O’Rahilly S, Finer N. Psychiatric co-morbidities in patients attending specialist obesity services in the UK. QJM 2006; 99:317-325. doi:10.1093/qjmed/hcl041. http://www.ncbi.nlm.nih.gov/pubmed/16613993.

171) Lopez M, Lelliott CJ, Tovar S, Kimber W, Gallego R, Virtue S, Blount M, Vazquez MJ, Finer N, Powles TJ, O’Rahilly S, Saha AK, Dieguez C, Vidal-Puig AJ. Tamoxifen-induced anorexia is associated with fatty acid synthase inhibition in the ventromedial nucleus of the hypothalamus and accumulation of malonyl-CoA. Diabetes 2006; 55:1327-1336. doi:10.2337/db05-1356. http://www.ncbi.nlm.nih.gov/pubmed/16644689.

*172) Semple RK, Soos MA, Luan J, Mitchell C, Wilson J, Gurnell M, Cochran E, Gorden P, Chatterjee VKK, Wareham NJ, O’Rahilly S. Elevated plasma adiponectin in humans with genetically defective insulin receptors. J Clin Endocrinol Metab 2006; 91:3219-3223. doi:10.1210/jc.2006-0166. http://www.ncbi.nlm.nih.gov/pubmed/16705075.

173) Groves D, Zeggini E, Walker M, Hitman G, Levy J, O’Rahilly S, Hattersley A, McCarthy M, Wiltshire S. Significant linkage of BMI to chromosome 10p in the UK population and evaluation of GAD2 as a positional candidate. Diabetes 2006; 55:1884-1889. doi:10.2337/db05-1674. http://www.ncbi.nlm.nih.gov/pubmed/16731858.

174) Christodoulides C, Laudes M, Cawthorn W, Schinner S, Soos MA, O’Rahilly S, Sethi J, Vidal-Puig A. The Wnt antogonist Dickkopf-1 and its receptors are coordinately regulated during early human adipogenesis. J Cell Sci 2006; 119:2613-2620. doi:10.1242/jcs.02975. http://www.ncbi.nlm.nih.gov/pubmed/16763196.

175) Coll A, Fassnacht M, Klammer S, Hahner S, Schulte D, Piper S, Tung YC, Challis BG, Weinstein Y, Allolio B, O’Rahilly S, Beuschlein F. 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 2006; 190:515-525. doi:10.1677/joe.1.06749. http://www.ncbi.nlm.nih.gov/pubmed/16899584.

176) Agostini M, Schoenmakers E, Mitchell, Szatmari I, Savage DB, Smith A, Rajanayagam O, Semple RK, Luan J, Bath L, Zalin A, Labib M, Kumar S, Simpson H, Blom D, Marais D, Schwabe J, Barroso I, Trembath R, Wareham NJ, Nagy L, Gurnell M, O’Rahilly S, Chatterjee VKK. Non-DNA binding, dominant-negative, human PPAR mutations cause lipodystrophic insulin resistance. Cell Metab 2006; 4:303-311. doi:10.1016/j.cmet.2006.09.003. http://www.ncbi.nlm.nih.gov/pubmed/17011503.

177) Farooqi IS, Drop S, Clements A, Keogh JM, Biernacka J, Lowenbein S, Challis BG, O’Rahilly S. Heterozygosity for a POMC-null mutation and increased obesity risk in humans. Diabetes 2006; 55:2549-2553. doi:10.2337/db06-0214. http://www.ncbi.nlm.nih.gov/pubmed/16936203.

178) Tung L, Piper S, Yeung D, O’Rahilly S, Coll A. A comparative study of the central effects of specific proopiomelanocortin (POMC)-derived melanocortin peptides on food intake and body weight in POMC null

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mice. Endocrinology 2006; 147:5940-5947. doi:10.1210/en.2006-0866. http://www.ncbi.nlm.nih.gov/pubmed/16959830.

179) Cai G, Cole S, Butte N, Bacino C, Diego V, Tan K, Goring H, O’Rahilly S, Farooqi IS, Comuzzie A. A quantitative trait locus on chromosome 18q for physical activity and dietary intake in Hispanic children. Obesity (Silver Spring) 2006; 14:1596-1604. doi:10.1038/oby.2006.184. http://www.ncbi.nlm.nih.gov/pubmed/17030971.

180) Gray S, Dalla Nora E, Grosse J, Manieri M, Stoeger T, Medina-Gomez G, Burling K, Wattler S, Russ A, Yeo GSH, Chatterjee VKK, O’Rahilly S, Voshol P, Cinti S, Vidal-Puig A. Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor function (P465L PPAR) in mice. Diabetes 2006; 55:2669-2677. doi:10.2337/db06-0389. http://www.ncbi.nlm.nih.gov/pubmed/17003330.

181) Harding A-H, Loos R, Luan J, O’Rahilly S, Wareham N, Barroso I. Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes. Diabetologia 2006; 49:2642-2648. doi:10.1007/s00125-006-0430-1. http://www.ncbi.nlm.nih.gov/pubmed/17019602.

182) Fawcett K, Wareham NJ, Luan J, Syddall H, Cooper C, O’Rahilly S, Day I, Sandhu M, Barroso I. PARL Leu262Val is not associated with fasting insulin levels in UK populations. Diabetologia 2006; 49:2649-2652. doi:10.1007/s00125-006-0443-9. http://www.ncbi.nlm.nih.gov/pubmed/17019603.

183) Gray S, Dalla Nora E, Backlund E, Manieri M, Virtue S, Noland R, O’Rahilly S, Cortright R, Cinti S, Cannon B, Vidal-Puig A. Decreased brown adipocyte recruitment and thermogenic capacity in mice with impaired peroxisome proliferator-activated receptor (P465L PPAR) function. Endocrinology 2006; 147:5708-5714. doi:10.1210/en.2006-0684. http://www.ncbi.nlm.nih.gov/pubmed/16980437.

184) Gray J, Yeo GSH, Cox J, Morton J, Adlam A-L, Keogh JM, Yanovski J, El Gharbawy A, Han J, Tung L, Hodges J. Raymond L, O’Rahilly S, Farooqi IS. Hyperphagia, severe obesity, impaired cognitive function and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Diabetes 2006; 55:3366-3371. doi:10.2337/db06-0550. http://www.ncbi.nlm.nih.gov/pubmed/17130481.

185) Topaloglu AK, Lu ZL, Farooqi IS, Mungan NO, Yuksel B, O’Rahilly S, Millar RP. Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene. Neuroendocrinology 2006; 84:301-308. doi:10.1159/000098147. http://www.ncbi.nlm.nih.gov/pubmed/17179725.

186) Gray J, Yeo GSH, Hung CC, Keogh JM, Clayton P, Banerjee K, McAulay A, O’Rahilly S, Farooqi IS. Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity. Int J Obes (Lond) 2007; 31:359-364. doi:10.1038/sj.ijo.0803390. http://www.ncbi.nlm.nih.gov/pubmed/16702999.

187) Hung CC, Luan J, Sims M, Keogh JM, Hall C, Wareham NJ, O’Rahilly S, Farooqi IS. Studies of the SIM1 gene in relation to human obesity and obesity-related traits. Int J Obes (Lond) 2007; 31:429-434. doi:10.1038/sj.ijo.0803443. http://www.ncbi.nlm.nih.gov/pubmed/16924270.

188) Alharbi KK, Spanakis E, Tan K, Smith MJ, Aldahmesh MA, O’Dell SD, Sayer AA, Lawlor DA, Ebrahim S, Smith GD, O’Rahilly S, Farooqi IS, Cooper C, Phillips DIW, Day INM. Prevalence and functionality of paucipmorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE. Hum Mutat 2007; 28:294-302. doi:10.1002/humu.20404. http://www.ncbi.nlm.nih.gov/pubmed/17072869.

*189) Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani M, Ercan O, Myhre A, Retterstol L, Stanhope R, Edge J, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien D, O’Rahilly S. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med 2007; 356:237-247. doi:10.1056/NEJMoa063988. http://www.ncbi.nlm.nih.gov/pubmed/17229951.

190) Tuthill A, Semple RK, Day R, Soos MA, Sweeney E, Seymour PJ, Didi M, O’Rahilly S. Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. Clin Endocrinol (Oxf) 2007; 66:21-26. doi:10.1111/j.1365-2265.2006.02678.x. http://www.ncbi.nlm.nih.gov/pubmed/17201797.

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191) Farooqi IS, O’Rahilly S. Is leptin an important physiological regulator of CRP? Nat Med 2007; 13:16-17. doi:10.1038/nm0107-16. http://www.ncbi.nlm.nih.gov/pubmed/17206122.

192) Collins SC, Luan J, Thompson AJ, Daly A, Semple RK, O’Rahilly S, Wareham NJ, Barroso I. Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations. Diabetologia 2007; 50:555-562. doi:10.1007/s00125-006-0534-7. http://www.ncbi.nlm.nih.gov/pubmed/17216283.

193) Franks PW, Ekelund U, Brage S, Luan J, Schafer AJ, O’Rahilly S, Barroso I, Wareham NJ. PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge. Diabetologia 2007; 50:569-573. doi:10.1007/s00125-006-0580-1. http://www.ncbi.nlm.nih.gov/pubmed/17216277.

194) Loos RJ, Barroso I, O’Rahilly S, Wareham NJ. Comment on “A common genetic variant is associated with adult and childhood obesity”. Science 2007; 315:187. doi:10.1126/science.1130012. http://www.ncbi.nlm.nih.gov/pubmed/17218509.

195) Franks PW, Loos RJ, Brage S, O’Rahilly S, Wareham NJ, Ekelund U. Physical activity energy expenditure may mediate the relationship between plasma leptin levels and worsening insulin resistance independently of adiposity. J Appl Physiol 2007; 102:1921-1926. doi:10.1152/japplphysiol.01022.2006. http://www.ncbi.nlm.nih.gov/pubmed/17234803.

196) Tan K, Kimber WA, Luan J, Soos MA, Semple RK, Wareham NJ, O’Rahilly S, Barroso I. Analysis of genetic variation in Akt2/PKB-β in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes. Diabetes 2007; 56:714-719. doi: 10.2337/db06-0921. http://www.ncbi.nlm.nih.gov/pubmed/17327441.

197) Mesa JL, Loos RJ, Franks PW, Ong KK, Luan J, O'Rahilly S, Wareham NJ, Barroso I. Lamin a/c polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies. Diabetes 2007; 56:884-889. doi: 10.2337/db06-1055. http://www.ncbi.nlm.nih.gov/pubmed/17327461.

198) Aerts JM, Ottenhoff R, Powlson AS, Grefhorst A, van Eijk M, Dubbelhuis PF, Aten J, Kuipers F, Serlie MJ, Wennekes T, Sethi JK, O'Rahilly S, Overkleeft HS. Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity. Diabetes 2007; 56:1341-1349. doi: 10.2337/db06-1619. http://www.ncbi.nlm.nih.gov/pubmed/17287460.

*199) Semple RK, Halberg NH, Burling K, Soos MA, Schraw T, Luan J, Cochran EK, Dunger DB, Wareham NJ, Scherer, Gorden P, O’Rahilly S. Paradoxical elevation of high-molecular weight adiponectin in acquired extreme insulin resistance due to insulin receptor antibodies. Diabetes 2007; 56:1712-1717. doi:10.2337/db06-1665. http://www.ncbi.nlm.nih.gov/pubmed/17325257.

200) Young EH, Wareham NJ, Farooqi IS, Hinney A, Hebebrand J, Scherag A, O'Rahilly S, Barroso I, Sandhu MS. The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals. Int J Obes (Lond) 2007; 31:1437-1441. doi:10.1038/sj.ijo.0803609. http://www.ncbi.nlm.nih.gov/pubmed/17356525.

201) Coelho R, Wells J, Symth J, Semple RK, O'Rahilly S, Eaton S, Hussain K. Severe hypoinsulinaemic hypoglycaemia in a premature infant associated with poor weight gain and reduced adipose tissue. Horm Res 2007; 68:91-98. doi:10.1159/000100974. http://www.ncbi.nlm.nih.gov/pubmed/17377394.

202) 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. Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a UK population with type 2 diabetes. J Clin Endocrinol Metab 2007; 92:2201-2204. doi:10.1210/jc.2006-2657. http://www.ncbi.nlm.nih.gov/pubmed/17389697.

203) Halsall DJ, Mangi M, Soos MA, Fahie-Wilson MN, Wark G, Mainwaring-Burton R, O'Rahilly S. Hypoglycemia due to an insulin binding antibody in a patient with an IgA-κ myeloma. J Clin Endocrinol Metab 2007; 92:2013-2016. doi:10.1210/jc.2007-0075. http://www.ncbi.nlm.nih.gov/pubmed/17405845.

*204) Loos RJ, Franks PW, Francis RW, Barroso I, Gribble FM, Savage DB, Ong KK, O'Rahilly S, Wareham NJ. TCF7L2 polymorphisms modulate proinsulin levels and β-cell function in a British Europid population. Diabetes 2007; 56:1943-1947. doi:10.2337/db07-0055. http://www.ncbi.nlm.nih.gov/pubmed/17416797.

205) Michailidou Z, Coll AP, Kenyon CJ, Morton NM, O’Rahilly S, Seckl JR, Chapman KE. Peripheral mechanisms contributing to the glucocorticoid hypersensitivity in proopiomelanocortin null mice treated with

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corticosterone. J Endocrinol 2007; 194:161-170. doi: 10.1677/JOE-07-0090. http://www.ncbi.nlm.nih.gov/pubmed/17592030.

*206) Payne VA, Au WS, Gray SL, Dalla Nora E, Mizanoor Rahman S, Sanders R, Hadaschik D, Friedman JE, O’Rahilly S*, Rochford JJ. Sequential regulation of DGAT2 expression by C/EBPβ and C/EBP during adipogenesis. J Biol Chem 2007; 282:21005-21014. doi:10.1074/jbc.M702871200. http://www.ncbi.nlm.nih.gov/pubmed/17504763.(*corresponding author)

*207) Nogueiras R, [22 authors], O'Rahilly S, Rohner-Jeanrenaud F, Tschop MH. The central melanocortin system directly controls peripheral lipid metabolism. J Clin Invest 2007; 117:3475-3488. doi:10.1172/JCI31743. http://www.ncbi.nlm.nih.gov/pubmed/17885689.

208) Tung YC, Rimmington D, O'Rahilly S, Coll AP. Pro-opiomelanocortin modulates the thermogenic and physical activity responses to high-fat feeding and markedly influences dietary fat preference. Endocrinology 2007; 148:5331-5338. doi:10.1210/en.2007-0797. http://www.ncbi.nlm.nih.gov/pubmed/17717049.

*209) Farooqi IS, Bullmore E, Keogh JM, Gillard J, O'Rahilly S, Fletcher PC. Leptin regulates striatal regions and human eating behaviour. Science 2007; 317:1355. doi:10.1126/science.1144599. http://www.ncbi.nlm.nih.gov/pubmed/17690262.

210) Lopez M, Lage R, Tung YC, Challis BG, Varela L, Virtue S, O'Rahilly S, Vidal-Puig A, Dieguez C, Coll AP. Orexin expression is regulated by -melanocyte-stimulating hormone. J Neuroendocrinol 2007; 19:703-707. doi:10.1111/j.1365-2826.2007.01577.x. http://www.ncbi.nlm.nih.gov/pubmed/17680885.

211) Heisler LK, Pronchuk N, Nonogaki K, Zhou L, Raber J, Tung L, Yeo GSH, O'Rahilly S, Colmers WF, Elmquist JK, Tecott LH. Serotonin activates the hypothalamic-pituitary-adrenal axis via serotonin 2C receptor stimulation. J Neurosci 2007; 27:6956-6964. doi: 10.1523/JNEUROSCI.2584-06.2007. http://www.ncbi.nlm.nih.gov/pubmed/17596444.

212) Farooqi IS, Volders K, Stanhope R, Heuschkel R, White A, Lank E, Keogh JM, O'Rahilly S, Creemers JW. Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. J Clin Endocrinol Metab 2007; 92:3369-3373. doi:10.1210/jc.2007-0687. http://www.ncbi.nlm.nih.gov/pubmed/17595246.

*213) Gerken T, Girard CA, Tung YC, Webby CJ, Saudek V, Hewitson KS, Yeo GSH, 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. The obesity-associated FTO gene encodes a 2-oxoglutarte-dependent nucleic acid demethylase. Science 2007; 318:1469-1472. doi:10.1126/science.1151710. http://www.ncbi.nlm.nih.gov/pubmed/17991826.

*214) Savage DB, Zhai L, Ravikumar G, Choi CS, Snaar JE, McGuire AD, Wou S-E, 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. A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice. PLoS Med 2008; 5:e246. doi:10.1371/journal.pmed.0050246. http://www.ncbi.nlm.nih.gov/pubmed/18232732.(*corresponding author)

215) 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. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab 2008; 93:1129-1134. doi:10.1210/jc.2007-1328. http://www.ncbi.nlm.nih.gov/pubmed/18211975.

216) Semple RK, Cochran EK, Soos MA, Burling KA, Savage DB, Gorden P, O'Rahilly S. Plasma adiponectin as a marker of insulin receptor dysfunction: clinical utility in severe insulin resistance. Diabetes Care 2008; 31:977-979. doi:10.2337/dc07-2194. http://www.ncbi.nlm.nih.gov/pubmed/18299442.

*217) Loos RJ, [106 authors; O’Rahilly S: 61], Barroso I. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 2008; 40:768-775. doi:10.1038/ng.140. http://www.ncbi.nlm.nih.gov/pubmed/18454148.

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*218) Payne VA, Grimsey N, Tuthill A, Virtue S, Gray SL, Dalla Nora E, Semple RK, O'Rahilly S, Rochford JJ. The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. Diabetes 2008; 57:2055-2060. doi:10.2337/db08-0184. http://www.ncbi.nlm.nih.gov/pubmed/18458148.

219) 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. The Gly482Ser genotype at the PPARGC1A gene and elevated blood pressure: a meta-analysis 13,949 individuals. J Appl Physiol 2008; 105:1352-1358. doi:10.1152/japplphysiol.90423.2008. http://www.ncbi.nlm.nih.gov/pubmed/18467552.

220) Au WS, Payne VA, O'Rahilly S, Rochford JJ. The NR4A family of orphan nuclear receptors are not required for adipogenesis. Int J Obes (Lond) 2008; 32:388-392. doi:10.1038/sj.ijo.0803763. http://www.ncbi.nlm.nih.gov/pubmed/18071346.

221) Lam DD, Przydzial MJ, Ridley SH, Yeo GSH, Rochford JJ, O’Rahilly S, Heisler LK. Serotonin 5-HT2C receptor agonist promotes hypophagia via downstream activation of melanocortin 4 receptors. Endocrinology 2008; 149:1323-1328. doi:10.1210/en.2007-1321. http://www.ncbi.nlm.nih.gov/pubmed/18039773.

222) Riserus U, Sprecher D, Johnson T, Olson E, Hirschberg S, Liu A, Fang Z, Hegde P, Richards D, Sarov-Blat, 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. Activation of peroxisome proliferator-activated receptor (PPAR)δ promotes reversal of multiple metabolic abnormalities, reduces oxidative stress, and increases fatty acid oxidation in moderately obese men. Diabetes 2008; 57:332-339. doi:10.2337/db07-1318. http://www.ncbi.nlm.nih.gov/pubmed/18024853.

223) Stutzmann F, Tan K, Vatin V, Dina C, Jouret B, Tichet J, Balkau B, Potoczna, N, Horber F, O’Rahilly S, Farooqi IS, Froguel P, Meyre D. Prevalence of MC4R deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. Diabetes 2008; 57:2511-2518. doi:10.2337/db08-0153. http://www.ncbi.nlm.nih.gov/pubmed/18559663.

*224) Wardle J, Carnell S, Haworth CM, Farooqi IS, O’Rahilly S, Plomin R. Obesity associated genetic variation in FTO is associated with diminished satiety. J Clin Endocrinol Metab 2008; 93:3640-3643. doi:10.1210/jc.2008-0472. http://www.ncbi.nlm.nih.gov/pubmed/18583465.

225) Fawcett KA, Grimsey N, Loos RJ, Wheeler E, Daly A, Soos MA, Semple RK, Syddall H, Cooper C, Siniossoglou S, O’Rahilly S, Wareham NJ, Barroso I. Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipdystrophy in UK populations. Diabetes 2008; 57:2527-2533. doi:10.2337/db08-0422. http://www.ncbi.nlm.nih.gov/pubmed/18591397.

*226) Prieur X, Tung YC, Griffin JL, Farooqi IS, O’Rahilly S, Coll AP. Leptin regulates peripheral lipid metabolism primarily through central effects on food intake. Endocrinology 2008; 149:5432-5439. doi:10.1210/en.2008-0498. http://www.ncbi.nlm.nih.gov/pubmed/18635658.

227) Tan GD, Savage DB, Fielding BA, Collins J, Hodson L, Humphreys SM, O’Rahilly S, Chatterjee VKK, Frayn KN, Karpe F. Fatty acid metabolism in patients with PPAR mutations. J Clin Endocrinol Metab 2008; 93:4462-4470. doi:10.1210/jc.2007-2356. http://www.ncbi.nlm.nih.gov/pubmed/18713822

228) Creemers JW, Lee YS, Oliver RL, Bahceci M, Tuzcu A, Gokalp D, Keogh JM, Herber S, White A, O’Rahilly S, Farooqi IS. Mutations in the amino-terminal region of POMC in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway. J Clin Endocrinol Metab 2008; 93:4494-4499. doi:10.1210/jc.2008-0954. http://www.ncbi.nlm.nih.gov/pubmed/18697863.

229) Kimber W, Peelman F, Prieur X, Wangensteen T, O’Rahilly S, Tavernier J, Farooqi IS. Functional characterisation of naturally occurring pathogenic mutations in the human leptin receptor. Endocrinology 2008; 149:6043-6052. doi:10.1210/en.2008-0544. http://www.ncbi.nlm.nih.gov/pubmed/18703626.

230) Gambineri A, Semple RK, Forlani G, Genghini S, Grassi I, Hyden CS, Pagotto U, O’Rahilly S, Pasquali R. Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin. Eur J Endocrinol 2008; 159:347-353. doi:10.1530/EJE-08-0272. http://www.ncbi.nlm.nih.gov/pubmed/18728124.

231) Tung YC, Ma M, Piper S, Coll AP, O’Rahilly S, Yeo GSH. Novel leptin-regulated genes revealed by transcriptional profiling of the hypothalamic paraventricular nucleus. J Neurosci 2008; 28:12419-12426. doi:10.1523/JNEUROSCI.3412-08.2008. http://www.ncbi.nlm.nih.gov/pubmed/19020034.

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*232) Greenfield J, Miller J, Keogh JM, Henning E, Satterwhite J, Cameron G, Astruc B, Mayer J, Brage S, See TC, Lomas D, O’Rahilly S, Farooqi IS. Modulation of blood pressure by central melanocortinergic pathways.N Eng J Med 2009; 360:44-52. doi:10.1056/NEJMoa0803085. http://www.ncbi.nlm.nih.gov/pubmed/19092146.

233) Tan K, Pogozheva ID, Yeo GSH, Hadaschik D, Keogh JM, Haskell-Leuvano C, O’Rahilly S, Mosberg HI, Farooqi IS. Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. Endocrinology 2009; 150:114-125. doi:10.1210/en.2008-0721. http://www.ncbi.nlm.nih.gov/pubmed/18801902.

*234) 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 KGC, O’Rahilly S. Complement abnormalities in acquired lipodytrophy revisited. J Clin Endocrinol Metab 2009; 94:10-16. doi:10.1210/jc.2008-1703. http://www.ncbi.nlm.nih.gov/pubmed/18854390.

*235) Willer CJ, [143 authors; O’Rahilly S: 78], Joel N Hirschhorn for the GIANT Consortium. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 2009; 41:25-34. doi:10.1038/ng.287. http://www.ncbi.nlm.nih.gov/pubmed/19079261.

*236) Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O’Rahilly S*, Semple RK*. TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. Nat Genet 2009; 41:354-358. doi:10.1038/ng.306. http://www.ncbi.nlm.nih.gov/pubmed/19079066.(*corresponding authors)

237) Greenfield J, Tuthill A, Soos MA, Semple RK, Halsall D, Chaudhry A, O’Rahilly S. Severe insulin resistance due to anti-insulin antibodies: response to plasma exchange and immunosuppressive therapy. Diabet Med 2009; 26:79-82. doi:10.1111/j.1464-5491.2008.02621.x. http://www.ncbi.nlm.nih.gov/pubmed/19125765.

*238) Semple RK, Sleigh A, Murgatropd P, Adams C, Bluck L, Jackson S, Vottero A, Kanabar D, Charlton-Menys V, Durrington P, Soos MA, Carpenter T, Lomas D, Cochran E, Gorden P, O’Rahilly S, Savage DB. Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. J Clin Invest 2009; 119:315-322. doi:10.1172/JCI37432. http://www.ncbi.nlm.nih.gov/pubmed/19164855.

239) Boyle K, Hadaschik K, Virtue S, Cawthorn W, Ridley S, O’Rahilly S, Siddle K. The transcription factors Egr1 and Egr2 have opposing influences on adipocyte differentiation. Cell Death Differ 2009; 16:782-789. doi:10.1038/cdd.2009.11. http://www.ncbi.nlm.nih.gov/pubmed/19229250.

240) Bottomley WE, Soos MA, Adams C, Guran T, Howlett T, Mackie A, Miell J, Monson J, Temple R, Tenenbaum-Rakover Y, Tymms J, Savage DB, Semple RK, O’Rahilly S, Barroso I. IRS2 variants and syndromes of severe insulin resistance. Diabetologia 2009; 52:1208-1211. doi:10.1007/s00125-009-1345-4. http://www.ncbi.nlm.nih.gov/pubmed/19377890.

241) Kis A, Murdoch C, Zhang M, Siva A, Rodriguez-Cuenca S, Carobbio S, Lukasik A, Blount M, O’Rahilly S, Gray S, Shah A, Vidal-Puig A. 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 2009; 11:533-541. doi:10.1093/eurjhf/hfp048. http://www.ncbi.nlm.nih.gov/pubmed/19395708.

*242) Dash S, Sano H, Rochford JJ, Semple RK, Yeo GSH, Hyden C, Soos MA, Clark J, Rodin A, Langenberg C, Druet C, Fawcett K, Tung YC, Wareham NJ, Barroso I, Lienhard G, O’Rahilly S, Savage DB. A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia. Proc Natl Acad Sci USA 2009; 106:9350-9355. doi:10.1073/pnas.0900909106. http://www.ncbi.nlm.nih.gov/pubmed/19470471.

*243) de Smith A, Purmann C, Walters R, Ellis R, Holder S, van Haelst M, Brady A, Fairbrother U, Dattani M, Keogh JM, Henning E, Yeo GSH, O’Rahilly S, Froguel P, Farooqi IS, Blakemore A. A deletion of the HB11-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet 2009; 18:3257-3265. doi:10.1093/hmg/ddp263. http://www.ncbi.nlm.nih.gov/pubmed/19498035.

*244) Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple RK, Dash S, Hyden C, Bottomley W, Vigouroux C, Magre J, Raymond-Barker P, Murgatroyd P, Chawla A, Skepper J, Chatterjee VKK, Suliman S, Patch A-M, Agarwal A, Garg A, Barroso I, Cinti S, Czech M, Argente J, O’Rahilly S, Savage DB. Partial lipodystrophy and

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insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Mol Med 2009; 1:280-287. doi:10.1002/emmm.200900037. http://www.ncbi.nlm.nih.gov/pubmed/20049731.

*245) Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo GSH, Meyre D, Golzio C, Molinari F, Kadhom N, Etchevers H, Saudek V, Farooqi IS, Froguel P, Lindahl T, O’Rahilly S, Munnich A, Colleaux L. Loss-of-function mutation in the dioxygenease-encoding FTO gene causes severe growth retardation and multiple malformations. Am J Hum Genet 2009; 85:106-111. doi:10.1016/j.ajhg.2009.06.002. http://www.ncbi.nlm.nih.gov/pubmed/19559399.

246) Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble FM, Kotan L, Akcay T, Atay Z, Canan Y, Serin A, O’Rahilly S, Reimann F, Semple RK, Topaloglu A. Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor. J Clin Endocrinol Metab 2009; 94:3633-3639. doi:10.1210/jc.2009-0551. http://www.ncbi.nlm.nih.gov/pubmed/19755480.

247) Finucane F, Luan J, Wareham NJ, Sharp S, O’Rahilly S, Balkau B, Flyvbjerg A, Walker M, Hojlund K, Nolan J, Savage DB (on behalf of the European Group for the Study of Insulin Resistance: Relationship between Insulin Sensitivity and Cardiovascular Disease Risk Study Group). Correlation of the leptin:adiponectin ratio with measures on insulin resistance in non-diabetic individuals. Diabetologia 2009; 52:2345-2349. doi:10.1007/s00125-009-1508-3. http://www.ncbi.nlm.nih.gov/pubmed/19756488.

248) Payne V, Au WS, Lowe CE, Rahman SM, Friedman JE, O’Rahilly S, Rochford JJ. C/EBP transcription factors regulate SREBP1c gene expression during adipogenesis. Biochem J 2009; 425:215-223. doi:10.1042/BJ20091112. http://www.ncbi.nlm.nih.gov/pubmed/19811452.

*249) Richards J, Waterworth D, O’Rahilly S, [63 authors], GIANT Consortium. A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. PLoS Genet 2009; 5:e1000768. doi:10.1371/journal.pgen.1000768. http://www.ncbi.nlm.nih.gov/pubmed/20011104.

250) Figueroa KP, Farooqi IS, Harrup K, Frank J, O’Rahilly S, Pulst S. Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity. PLoS One 2009; 4:e8280. doi:10.1371/journal.pone.0008280. http://www.ncbi.nlm.nih.gov/pubmed/20016785.

251) Meyre D, Proulx K, Kawagoe-Takaki H, Vatin V, Gutierrez-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 GSH. Prevalence of loss-of-function FTO mutations in lean and obese individuals. Diabetes 2010; 59:311-318. doi:10.2337/db09-0703. http://www.ncbi.nlm.nih.gov/pubmed/19833892.

*252) Bochukova E, Huang N, Keogh JM, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O’Rahilly S, Hurles M, Farooqi IS. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 2010; 463:666-670. doi:10.1038/nature08689. http://www.ncbi.nlm.nih.gov/pubmed/19966786.

253) Corander M, Challis BG, Thompson E, Jovanovic Z, Tung L, Rimmington D, Huhtaniemi I, Murphy K, Topaloglu AK, Yeo GSH, O’Rahilly S, Dhillo W, Semple RK, Coll AP. The effects of neurokinin B upon gonadotrophin release in male rodents. J Neuroendocrinol 2010; 22:181-187. doi:10.1111/j.1365-2826.2009.01951.x. http://www.ncbi.nlm.nih.gov/pubmed/20041982.

254) Romeo S, Sentinelli F, Dash S, Yeo GSH, Savage DB, Leonetti F, Capoccia D, Incani M, Maglio C, Iacovino M, O’Rahilly S, Baroni MG. Morbid obesity exposes the association between PNPLA3 l148M (rs738409) and indices of hepatic injury in individuals of European descent. Int J Obes (Lond) 2010; 34:190-194. doi:10.1038/ijo.2009.216. http://www.ncbi.nlm.nih.gov/pubmed/19844213.

*255) Walters RG, [93 authors; O’Rahilly S: 84], Beckmann JS. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010; 463:671-675. doi:10.1038/nature08727. http://www.ncbi.nlm.nih.gov/pubmed/20130649.

256) Regan, F, Willaims R, McDonald A, Umpleby M, Acerini C, O’Rahilly S, Hovorka R, Semple RK, Dunger D. 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 2010; 95:2113-2122. doi:10.1210/jc.2009-2088. http://www.ncbi.nlm.nih.gov/pubmed/20233784.

257) Tung YC, Ayuso E, Shan X, Bosch F, O’Rahilly S, Coll AP, Yeo GSH. Hypothalamic-specific manipulation of Fto, the ortholog of the human obesity gene FTO, affects food intake in rats. PLoS One 2010; 5:e8771. doi:10.1371/journal.pone.0008771. http://www.ncbi.nlm.nih.gov/pubmed/20098739.

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258) Dash S, Langenberg C, Fawcett K, Semple RK, Romeo S, Sharp S, Sano H, Lienhard G, Rochford JJ, Howlett T, Massoud A, Hindmarsh P, Howell S, Wilkinson R, Lyssenko V, Groop L, Baroni M, Barroso I, Wareham NJ, O’Rahilly S, Savage DB. Analysis of TBC1D4 in patients with severe insulin resistance. Diabetologia 2010; 53:1239-1242. doi:10.1007/s00125-010-1724-x. http://www.ncbi.nlm.nih.gov/pubmed/20349035.

259) Tschop J, Nogueiras R, Haas-Lockie S, Kasten K, Castanieda T, Huber N, Guanaciale K, Perez-Tilve D, Habegger K, Ottaway N, Woods S, Oldfield B, Clarke I, Chua S, Farooqi IS, O’Rahilly S, Caldwell C, Tschop M. CNS leptin action modulates immune response and survival in sepsis. J Neurosci 2010; 30:6036-6047. doi:10.1523/JNEUROSCI.4875-09.2010. http://www.ncbi.nlm.nih.gov/pubmed/20427662.

260) Kirk J, Porter K, Parker V, Barroso I, O’Rahilly S, Hendriksz C, Semple RK. 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 2010; 33 Suppl 3:S227-232. doi:10.1007/s10545-010-9107-5. http://www.ncbi.nlm.nih.gov/pubmed/20521171.

261) Jovanovic Z, Tung YC, Lam B, O’Rahilly S, Yeo GSH. Identification of the global transcriptomic response of the hypothalamic arcuate nucleus to fasting and leptin. J Neuroendocrinol 2010; 22:915-925. doi:10.1111/j.1365-2826.2010.02026.x. http://www.ncbi.nlm.nih.gov/pubmed/20553370.

*262) Speliotes E, [374 authors; O’Rahilly S: 207], Loos RJ. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 2010; 42:937-948. doi:10.1038/ng.686. http://www.ncbi.nlm.nih.gov/pubmed/20935630.

263) Fletcher P, Napolitano A, Skeggs A, Miller S, Delafont B, Cambridge V, de Wit S, Nathan P, Brooke A, O’Rahilly S, Farooqi IS, Bullmore E. 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 2010; 30:14346-14355. doi:10.1523/JNEUROSCI.3323-10.2010. http://www.ncbi.nlm.nih.gov/pubmed/20980590.

264) Napolitano A, Murgatroyd P, Finer N, Hussey E, Dobbins R, O’Rahilly S, Nunez D. Assessment of acute and chronic pharmacological effects on energy expenditure and macronutrient oxidation in humans: responses in ephedrine. J Obes 2011; 2011.pii:210484. doi:10.1155/2011/210484. http://www.ncbi.nlm.nih.gov/pubmed/20847897.

265) Martinelli C, Keogh JM, Greenfield J, Henning E, van der Klaauw A, Blackwood A, O’Rahilly S, Roelfsema F, Camacho-Hubner C, Pijl H, Farooqi IS. Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia and incompletely suppressed growth hormone secretion. J Clin Endocrinol Metab 2011; 96:E181-188. doi:10.1210/jc.2010-1369. http://www.ncbi.nlm.nih.gov/pubmed/21047921.

266) 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. Early diagnosis of Werner's syndrome using exome-wide sequencing in a single, atypical patient. Front Endocrinol (Lausanne) 2011; 2:8. doi:10.3389/fendo.2011.00008. http://www.ncbi.nlm.nih.gov/pubmed/22654791.

267) Prieur X, Mok CY, Velagapudi V, Nunez V, Fuentes L, Montaner D, Ishikawa K, Camacho A, Barbarroja N, O’Rahilly S, Sethi J, Dopazo J, Oresic M, Ricote M, Vidal-Puig A. Differential lipid partitioning between adipocytes and tissue macrophages modulates macrophage liptoxicity and M2/M1 polarization in obese mice. Diabetes 2011; 60:797-809. doi:10.2337/db10-0705. http://www.ncbi.nlm.nih.gov/pubmed/21266330.

268) Huang-Doran I, Bicknell L, Finucane F, Rocha N, Porter K, Tung YC, Szekeres F, Krook A, Nolan J, O’Driscoll M, Bober M, O’Rahilly S, Jackson A, Semple RK, Majewski Osteodysplastic Primordial Dwarfism Study Group. Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes 2011; 60:925-935. doi:10.2337/db10-1334. http://www.ncbi.nlm.nih.gov/pubmed/21270239.

*269) 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. Perilipin deficiency and autosomal dominant partial lipodystrophy. N Engl J Med 2011; 364:740-748. doi:10.1056/NEJMoa1007487. http://www.ncbi.nlm.nih.gov/pubmed/21345103.

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270) Nica AC, [34 authors; O’Rahilly S: 24], MuTHER Consortium. The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet 2011; 7:e1002003. doi:10.1371/journal.pgen.1002003. http://www.ncbi.nlm.nih.gov/pubmed/21304890.

271) Raffan E, Soos MA, Rocha N, Tuthill A, Thomsen A, Hyden C, Gregory J, Hindmarsh P, Dattani M, Cochran E, Al Kaabi J, Gorden P, Barroso I, Morling N, O’Rahilly S, Semple RK. Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling. Diabetologia 2011; 54:1057-1065. doi:10.1007/s00125-011-2066-z. http://www.ncbi.nlm.nih.gov/pubmed/21318406.

*272) Corander MP, Rimmington D, Challis BG, O’Rahilly S, Coll AP. Loss of agouti-related peptide does not significantly impact the phenotype of murine POMC deficiency. Endocrinology 2011; 152:1819-1828. doi:10.1210/en.2010-1450. http://www.ncbi.nlm.nih.gov/pubmed/21363936.

273) Speliotes E, [36 authors; GIANT Consortium: 26], GOLD Consortium. Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. PLoS Genet 2011; 7:e1001324. doi:10.1371/journal.pgen.1001324. http://www.ncbi.nlm.nih.gov/pubmed/21423719.

*274) 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 K, Kemp GJ, O’Rahilly S, Semple RK, Savage DB. Mitochondrial dysfunction in patients with primary congenital insulin resistance. J Clin Invest 2011; 121:2457-2461. doi:10.1172/JCI46405. http://www.ncbi.nlm.nih.gov/pubmed/21555852.

275) Kilpelainen T, [115 authors; O’Rahilly S: 111], Loos RJ. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet 2011; 43:753-760. doi:10.1038/ng.866. http://www.ncbi.nlm.nih.gov/pubmed/21706003.

276) Gandotra S, Lim K, Girousse A, Saudek V, O’Rahilly S, Savage DB. Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5). J Biol Chem 2011; 286:34998-35006. doi:10.1074/jbc.M111.278853. http://www.ncbi.nlm.nih.gov/pubmed/21757733.

*277) Hussain K, Challis BG, 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*. An activating mutation of AKT2 and human hypoglycemia. Science 2011; 334:474. doi:10.1126/science.1210878. http://www.ncbi.nlm.nih.gov/pubmed/21979934.(*co-corresponding authors)

278) Strawbridge RJ, [106 authors; GIANT Consortium: 65, MuTHER Consortium: 66], Florez JC. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes 2011; 60:2624-2634. doi:10.2337/db11-0415. http://www.ncbi.nlm.nih.gov/pubmed/21873549.

279) Cho YS, [66 authors; MuTHER Consortium: 51], Seielstad M. Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. Nat Genet 2011; 44:67-72. doi:10.1038/ng.1019. http://www.ncbi.nlm.nih.gov/pubmed/22158537.

280) Lowe C, Dennis R, Obi U, O’Rahilly S, Rochford JJ. Investigating the involvement of the ATF6α pathway of the unfolded protein response in adipogenesis. Int J Obes (Lond) 2012 ; 36:1248-1251. doi:101038/ijo.2011.233. http://www.ncbi.nlm.nih.gov/pubmed/22124452.

281) Sim MF, Dennis RJ, Aubry EM, Ramanathan N, Sembongi H, Saudek V, Ito D, O'Rahilly S, Siniossoglou S, Rochford JJ. The human lipodystrophy protein seipin is an ER membrane adaptor for the adipogenic PA phosphatase lipin 1. Mol Metab 2012; 2:38-46. doi:10.1016/j.molmet.2012.11.002. http://www.ncbi.nlm.nih.gov/pubmed/24024128.

282) 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. Mitochodrial oxidative phosphorylation is impaired in patients with congenital lipodystrophy. J Clin Endocrinol Metab 2012; 97:E438-442. doi:10.1210/jc.2011-2587. http://www.ncbi.nlm.nih.gov/pubmed/22238385.

283) Ma M, Harding HP, O’Rahilly S, Ron D, Yeo GSH. Kinetic analysis of FTO (fat mass and obesity-associated) reveals that it is unlikely to function as a sensor for 2-oxoglutarate. Biochem J 2012; 444:183-187. doi:10.1042/BJ20120065. http://www.ncbi.nlm.nih.gov/pubmed/22435707.

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284) Bradfield J, [80 authors; O’Rahilly S: 64], Early Growth Genetics Consortium. A genome-wide association meta-analysis identifies new childhood obesity loci. Nat Genet 2012; 44:526-531. doi:10.1038/ng.2247. http://www.ncbi.nlm.nih.gov/pubmed/22484627.

285) Bell JT, [21 authors; MuTHER Consortium: 17], Deloukas P. Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population. PLoS Genet 2012; 8:e1002629. doi:10.1371/journal.pgen.1002629. http://www.ncbi.nlm.nih.gov/pubmed/22532803.

*286) 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. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet 2012; 44:928-933. doi:10.1038/ng.2332. http://www.ncbi.nlm.nih.gov/pubmed/22729222.

287) Grundberg E, [50 authors; O’Rahilly S: 39], MuTHER Consortium. Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet 2012; 44:1084-1089. doi:10.1038/ng.2394. http://www.ncbi.nlm.nih.gov/pubmed/22941192.

288) Fraterrigo G, Fabbrini E, Mittendorfer B, O'Rahilly S, Scherer PE, Patterson BW, Klein S. Relationship between changes in plasma adiponectin concentration and insulin sensitivity after niacin therapy. Cardiorenal Med 2012; 2:211-217. doi:10.1159/000340037. http://www.ncbi.nlm.nih.gov/pubmed/22969777.

*289) 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. Human SH2B1 mutations are associated with maladaptive behaviors and obesity. J Clin Invest 2012; 122:4732-4736. doi:10.1172/JCI62696. http://www.ncbi.nlm.nih.gov/pubmed/23160192.

290) Cheung MK, Gulati P, O’Rahilly S, Yeo GSH. FTO expression is regulated by availability of essential amino acids. Int J Obes (Lond) 2013; 37:744-747. doi:10.1038/ijo.2012.77. http://www.ncbi.nlm.nih.gov/pubmed/22614055.

291) Rutter MK, [23 authors; O’Rahilly S: 20], BRHS and EMAS Study Groups. Epidemiological evidence against a role for C-reactive protein causing leptin resistance. Eur J Endocrinol 2013; 168:101-106. doi:10.1530/EJE-12-0348. http://www.ncbi.nlm.nih.gov/pubmed/23047304.

292) Ziauddeen H, [18 authors; O’Rahilly S: 13], Bullmore ET. 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 2013; 18:1287-1293. doi:10.1038/mp.2012.154. http://www.ncbi.nlm.nih.gov/pubmed/23147384.

293) McMurray F, Church CD, Larder R, Nicholson G, Wells S, Teboul L, Tung YC, Rimmington D, Bosch F, Jimenez V, Yeo GSH, O'Rahilly S, Ashcroft FM, Coll AP, Cox RD. Adult onset global loss of the Fto gene alters body composition and metabolism in the mouse. PLoS Genet 2013; 9:e1003166. doi:10.1371/journal.pgen.1003166. http://www.ncbi.nlm.nih.gov/pubmed/23300482.

*294) 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 GSH. Role for the obesity-related FTO gene in the cellular sensing of amino acids. Proc Natl Acad Sci USA 2013; 110:2557-2562. doi:10.1073/pnas.1222796110. http://www.ncbi.nlm.nih.gov/pubmed/23359686.

295) Ramanathan N, Ahmed M, Raffan E, Stewart CL, O'Rahilly S, Semple RK, Raef H, Rochford JJ. Identification and characterisation of a novel pathogenic mutation in the human lipodystrophy gene AGPAT2: C48R: a novel mutation in AGPAT2. JIMD Rep 2013; 9:73-80. doi:10.1007/8904_2012_181. http://www.ncbi.nlm.nih.gov/pubmed/23430550.

*296) Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S, Garg S, Henning E, Blackburn H, Loos RJ, Wareham NJ, O'Rahilly S, Hurles ME, Barroso I, Farooqi IS. Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Nat Genet 2013; 45:513-517. doi:10.1038/ng.2607. http://www.ncbi.nlm.nih.gov/pubmed/23563609.

*297) 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. Depletion of stromal cells expressing fibroblast activation protein- from skeletal muscle and bone marrow

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results in cachexia and anemia. J Exp Med 2013; 210:1137-1151. doi:10.1084/jem.20122344. http://www.ncbi.nlm.nih.gov/pubmed/23712428.

298) Lowe CE, Zhang Q, Dennis RJ, Aubry EM, O’Rahilly S, Wakelam MJ, Rochford JJ. Knockdown of diacylglycerol kinase delta inhibits adipocyte differentiation and alters lipid synthesis. Obesity (Silver Spring) 2013; 21:1823-1829. doi:10.1002/oby.20297. http://www.ncbi.nlm.nih.gov/pubmed/23703849.

299) Schmidts M, [33 authors; UK10K Consortium: 31], Mitchison HM. 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 2013; 50:309-323. doi:10.1136/jmedgenet-2012-101284. http://www.ncbi.nlm.nih.gov/pubmed/23456818.

*300) 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. Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. Science 2013; 341:275-278. doi:10.1126/science.1233000. http://www.ncbi.nlm.nih.gov/pubmed/23869016.

301) Frank GR, Fox J, Candela N, Jovanovic Z, Bochukova E, Levine J, Papenhausen PR, O'Rahilly S, Farooqi IS.Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency. Mol Genet Metab 2013; 110:191-194. doi:10.1016/j.ymgme.2013.04.005. http://www.ncbi.nlm.nih.gov/pubmed/23800642.

*302) 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. Rare variants in single-minded 1 (SIM1) are associated with severe obesity. J Clin Invest 2013; 123:3042-3050. doi:10.1172/JCI68016. http://www.ncbi.nlm.nih.gov/pubmed/23778139.

*303) Weedon MN, Ellard S, Prindle MJ, Caswell R, Allen HL, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet 2013; 45:947-950. doi:10.1038/ng.2670. http://www.ncbi.nlm.nih.gov/pubmed/23770608.

304) Carss KJ, [34 authors; UK10K Consortium: 33], Muntoni F. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet 2013; 93:29-41. doi:10.1016/j.ajhg.2013.05.009. http://www.ncbi.nlm.nih.gov/pubmed/23768512.

305) Glass D, [22 authors; MuTHER Consortium: 16], Spector TD. Gene expression changes with age in skin, adipose tissue, blood and brain. Genome Biol 2013; 14:R75. doi:10.1186/gb-2013-14-7-r75. http://www.ncbi.nlm.nih.gov/pubmed/23889843.

306) Sim MF, Talukder MM, Dennis RJ, O'Rahilly S, Edwardson JM, Rochford JJ. Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms. Diabetologia 2013; 56:2498-2506. doi:10.1007/s00125-013-3029-3. http://www.ncbi.nlm.nih.gov/pubmed/23989774.

307) Grundberg E, [21 authors; MuTHER Consortium: 16], Deloukas P. 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 2013; 93:876-890. doi:10.1016/j.ajhg.2013.10.004. http://www.ncbi.nlm.nih.gov/pubmed/24183450.

308) Evans DM, [17 authors; GIANT Consortium: 9], Davey Smith G. Mining the human phenome using allelic scores that index biological intermediates. PLoS Genet 2013; 9:e1003919. doi:10.1371/journal.pgen.1003919. http://www.ncbi.nlm.nih.gov/pubmed/24204319.

*309) 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. KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation. Cell 2013; 155:765-777. doi:10.1016/j.cell.2013.09.058. http://www.ncbi.nlm.nih.gov/pubmed/24209692.

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310) Bell JT, Loomis AK, Butcher LM, Gao F, Zhang B, Hyde CL, Sun J, Wu H, Ward K, Harris J, Scollen S, Davies MN, Schalkwyk LC, Mill J; MuTHER Consortium, Williams FM, Li N, Deloukas P, Beck S, McMahon SB, Wang J, John SL, Spector TD. Differential methylation of the TRPA1 promoter in pain sensitivity. Nat Commun 2014; 5:2978. doi:10.1038/ncomms3978. http://www.ncbi.nlm.nih.gov/pubmed/24496475.

311) Logan CV, [35 authors; UK10K Consortium: 33], Sheridan E. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet 2014; 46:188-193. doi:10.1038/ng.2851. http://www.ncbi.nlm.nih.gov/pubmed/24336167.

312) Kaye J, Hurles M, Griffin H, Grewal J, Bobrow M, Timpson N, Smee C, Bolton P, Durbin R, Dyke S, Fitzpatrick D, Kennedy K, Kent A, Muddyman D, Muntoni F, Raymond LF, Semple RK, Spector T; UK10K Consortium. Managing clinically significant findings in research: the UK10K example. Eur J Hum Genet 2014; 22:1100-1104. doi:10.1038/ejhg.2013.290. http://www.ncbi.nlm.nih.gov/pubmed/24424120.

313) Ding Z, Mangino M, Aviv A, UK10K Consortium, Spector T, Durbin R. Estimating telomere length from whole genome sequence data. Nucleic Acids Res 2014; 42:e75. doi:10.1093/nar/gku181. http://www.ncbi.nlm.nih.gov/pubmed/24609383.

314) 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. Functional characterisation of obesity-associated variants involving the and β isoforms of human SH2B1. Endocrinology 2014; 155:3219-3226. doi:10.1210/en.2014-1264. http://www.ncbi.nlm.nih.gov/pubmed/24971614.

*315) 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. Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease. Proc Natl Acad Sci USA 2014; 111:8901-8906. doi:10.1073/pnas.1408523111. http://www.ncbi.nlm.nih.gov/pubmed/24889630.

316) van der Klaauw AA, von dem Hagen EAH, Keogh JM, Henning E, O'Rahilly S, Lawrence AD, Calder AJ, Farooqi IS. Obesity-associated melanocortin-4 receptor mutations are associated with changes in the brain response to food cues. J Clin Endocrinol Metab 2014; 99:E2101-2106. doi:10.1210/jc.2014-1651. http://www.ncbi.nlm.nih.gov/pubmed/25062455.

*317) 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 MBL, Coll AP, Reimann F, O’Rahilly S, Gribble FM. Insulin-like peptide 5 is an orexigenic gastrointestinal hormone. Proc Natl Acad Sci USA 2014; 111:11133-11138. doi:10.1073/pnas.1411413111. http://www.ncbi.nlm.nih.gov/pubmed/25028498.

*318) Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage DB, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple RK. Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. J Clin Invest 2014; 124:4028-4038. doi:10.1172/JCI73264. http://www.ncbi.nlm.nih.gov/pubmed/25105364.

319) Timpson NJ, [32 authors], UK10K Consortium. A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Nat Commun 2014; 5:4871. doi:10.1038/ncomms5871. http://www.ncbi.nlm.nih.gov/pubmed/25225788

320) Gulati P, Avezov E, Ma M, Antrobus R, Lehner P, O’Rahilly S, Yeo GSH. Fat mass and obesity-related (FTO) shuttles between the nucleus and cytoplasm. Biosci Rep 2014; 34. doi:10.1042/BSR20140111. http://www.ncbi.nlm.nih.gov/pubmed/25242086.

321) Simpkin A, Cochran E, Cameron F, Dattani M, de Bock M, Dunger DB, Forsander G, Guran T, Harris J, Isaac I, Hussain K, Kleta R, Peters C, Tasic V, Williams R, Yap Kok Peng F, O’Rahilly S, Gorden P, Semple RK, Bockenhauer D. Insulin receptor and the kidney: nephrocalcinosis in patients with recessive INSR mutations. Nephron Physiol 2014; 128:55-61. doi:10.1159/000366225. http://www.ncbi.nlm.nih.gov/pubmed/25358339.

322) Simonds SE, Pryor JT, Ravussin E, Greenway FL, Dileone R, Allen AM, Bassi J, Elmquist JK, Keogh JM, Henning E, Myers MG Jr, Licinio J, Brown RD, Enriori PJ, O'Rahilly S, Sternson SM, Grove KL, Spanswick DC, Farooqi IS, Cowley MA. Leptin mediates the increase in blood pressure associated with obesity. Cell 2014; 159:1404-1416. doi:10.1016/j.cell.2014.10.058. http://www.ncbi.nlm.nih.gov/pubmed/25480301.

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323) Kozusko K, Tsang V, Bottomley W, Cho Y, Gandotra S, Mimmack M, Lim K, Isaac I, Patel S, Saudek V, O’Rahilly S, Srinivasan S, Greenfield JR, Barroso I, Campbell LV, Savage DB. Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. Diabetes 2015; 64:299-310. doi:10.2337/db14-0104. http://www.ncbi.nlm.nih.gov/pubmed/25114292.

324) Taylor PN, [49 authors], UK10K Consortium. Whole-genome sequence-based analysis of thyroid function. Nat Commun 2015; 6:5681. doi:10.1038/ncomms6681. http://www.ncbi.nlm.nih.gov/pubmed/25743335.

325) Talukder MM, Sim MF, O'Rahilly S, Edwardson JM, Rochford JJ. Seipin oligomers can interact directly with AGPAT2 and lipin 1, physically scaffolding critical regulators of adipogenesis. Mol Metab 2015; 4:199-209. doi:10.1016/j.molmet.2014.12.013. http://www.ncbi.nlm.nih.gov/pubmed/25737955.

326) Shungin D, [419 authors; MuTHER Consortium: 229]. New genetic loci link adipose and insulin biology to body fat distribution. Nature 2015; 518:187-196. doi:10.1038/nature14132. http://www.ncbi.nlm.nih.gov/pubmed/25673412.

327) Locke AE, [496 authors; MuTHER Consortium: 272]. Genetic studies of body mass index yield new insights for obesity biology. Nature 2015; 518:197-206. doi:10.1038/nature14177. http://www.ncbi.nlm.nih.gov/pubmed/25673413.

328) Wessel J, [103 authors; O'Rahilly S: 68], Goodarzi MO. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun 2015; 6:5897. doi:10.1038/ncomms6897. http://www.ncbi.nlm.nih.gov/pubmed/25631608.

329) Tung YC, Gulati P, Liu CH, Rimmington D, Dennis R, Ma M, Saudek V, O'Rahilly S, Coll AP, Yeo GSH. FTO is necessary for the induction of leptin resistance by high-fat feeding. Mol Metab 2015; 4:287-298. doi:10.1016/j.molmet.2015.01.011. http://www.ncbi.nlm.nih.gov/pubmed/25830092.

330) Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB; UK10K Consortium. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun 2015; 6:7074. doi:10.1038/ncomms8074. http://www.ncbi.nlm.nih.gov/pubmed/26044572.

331) Allum F, Shao X, Guénard F, Simon MM, Busche S, Caron M, Lambourne J, Lessard J, Tandre K, Hedman ÅK, Kwan T, Ge B, MuTHER Consortium, Rönnblom L, McCarthy MI, Deloukas P, Richmond T, Burgess D, Spector TD, Tchernof A, Marceau S, Lathrop M, Vohl MC, Pastinen T, Grundberg E. Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants. Nat Commun 2015; 6:7211. doi:10.1038/ncomms8211. http://www.ncbi.nlm.nih.gov/pubmed/26021296.

332) Eiden M, Koulman A, Hatunic M, West JA, Murfitt S, Osei M, Adams C, Wang X, Chu Y, Marney L, Roberts LD, O’Rahilly S, Semple RK, Savage DB, Griffin JL. Mechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromes. Genome Med 2015; 7:63. doi:10.1186/s13073-015-0179-6. http://www.ncbi.nlm.nih.gov/pubmed/26273324.

333) Chen JH, Segni M, Payne F, Huang-Doran I, Sleigh A, Adams C, UK10K Consortium, Savage DB, O’Rahilly S, Semple RK, Barroso I. Truncation of POC1A associated with short stature and extreme insulin resistance. J Mol Endocrinol 2015; 55:147-158. doi:10.1530/JME-15-0090. http://www.ncbi.nlm.nih.gov/pubmed/26336158.

Other Publications (Reviews, Book Chapters, Clinical Case Reports, Letters, etc)

1) O'Rahilly S, Duignan JP, Lennon JR, O'Malley E. Successful treatment of a post-operative external biliary fistula by endoscopic papillotomy. Endoscopy 1983; 15:68-69 (clinical case report). doi:10.1055/s-2007-1021469. http://www.ncbi.nlm.nih.gov/pubmed/6851956.

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2) O'Rahilly S, Marcus RE. Fever after intra-thecal methotrexate. Br Med J (Clin Res Ed) 1984; 289:84 (clinical case report). doi:10.1136/bmj.289.6437.84.

3) O'Rahilly S, Turner T, Wass JAH. Factitious epilepsy due to amitryptyline abuse. Ir Med J 1985; 78:166-167 (clinical case report). http://www.ncbi.nlm.nih.gov/pubmed/3924855.

4) O'Rahilly S. Beta-blockers, blood sugars and thiazides. Lancet 1985; 325:515-516 (letter). doi:10.1016/S0140-6736(85)92111-7.

5) O'Rahilly S. Secretion of antidiuretic hormone in hyponatraemia: not always "inappropriate". Br Med J (Clin Res Ed) 1985; 290:1803-1804 (clinical case report). http://www.ncbi.nlm.nih.gov/pubmed/3924264.

6) Turner RC, Holman RR, Matthews DR, O'Rahilly S, Rudenski AS, Braund WJ. Diabetes nomenclature: classification or grading of severity? Diabet Med 1986; 3:216-220 (review). http://www.ncbi.nlm.nih.gov/pubmed/2951172.

7) 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; 328:360-364. doi:10.1016/S0140-6736(86)90052-8. http://www.ncbi.nlm.nih.gov/pubmed/2874367.

8) Ferner RE, Jarett RJ, Leslie RDG, O'Rahilly S, Nugent Z, Rudenski AS, Hosker JP, Turner RC. Beta-cell function in type 2 diabetes. Lancet 1986; 328:628-629 (letter). doi:10.1016/S0140-6736(86)92451-7.

9) O'Rahilly S, Matthews DR, Hosker JP, Turner RC. Metabolic abnormalities in children of non-insulin dependent diabetics. Br Med J (Clin Res Ed) 1986; 293:1437-1438 (letter). http://www.ncbi.nlm.nih.gov/pubmed/3099904.

10) O'Rahilly S, Holman RR, Turner RC. Maturity-onset diabetes in young black Americans. N Eng J Med 1987; 317:381-382 (letter). doi:10.1056/NEJM198708063170611.

11) O'Rahilly S, Holman RR. Maturity-onset diabetes: identifying the cause. MIMS magazine 1987; 23-28 (review).

12) Turner RC, Rudenski AS, Holman RR, Matthews DR, O'Rahilly S. Quantitative modelling of endocrine diseases as exemplified by diabetes. Clin Endocrinol (Oxf) 1987; 26:107-116 (review). doi:10.1111/j.1365-2265.1987.tb03644.x. http://www.ncbi.nlm.nih.gov/pubmed/3542309.

13) O'Rahilly S. An unusual complication of air travel. Br Med J 1987; 28:107-118 (clinical case report).14) O'Rahilly S. Secretory failure or insulin resistance: which comes first in NIDDM? Diabetes News 1988;

IX:1-3 (review).15) Turner RC, Rudenski AS, Hosker JP, Matthews DR, Levy JC, O'Rahilly S. CIGMA as a tool in the study of NIDDM.

Prog Clin Biol Res 1988; 265:13-26 (book chapter). http://www.ncbi.nlm.nih.gov/pubmed/3405996.16) Turner RC, Clark A, Rudenski AS, O'Rahilly S, Matthews DR. The primary role of beta-cell failure in type II

diabetes mellitus. Progress in Diabetes 1988; 2:6-8 (review).17) Turner RC, Matthews DR, Clark A, O'Rahilly S, Rudenski AS, Levy J. Pathogenesis of NIDDM - a disease of

deficient insulin secretion. Bailliere’s Clin Endocrinol Metab 1988; 2:327-342 (review). doi:10.1016/S0950-351X(88)80035-1. http://www.ncbi.nlm.nih.gov/pubmed/3075895.

*18) O'Rahilly S, Wainscoat JS, Turner RC. Type 2 (non-insulin-dependent) diabetes mellitus, new genetics for old nightmares. Diabetologia 1988: 31:407-414 (review). doi:10.1007/BF00271584. http://www.ncbi.nlm.nih.gov/pubmed/3065103.

19) O'Rahilly S, Matthews DR, Turner RC. Increased insulin concentrations in nondiabetic offspring of diabetic parents. N Eng J Med 1989; 320:1282-1283 (letter). doi:10.1056/NEJM198905113201917.

20) Turner RC, O’Rahilly S, Levy J, Rudenski A, Clark A. Does type II diabetes arise from major gene defect producing insulin resistance or beta cell dysfunction? in ‘Genes and gene products in the development of diabetes mellitus’; edited by Nerup J, Mandrup-Poulsen T, Hokfelt B; publ. Elsevier Science Ltd 1989, ISBN 0444813225 (book chapter).

21) Turner RC, Rudenski AS, Matthews DE, Levy JC, O'Rahilly S, Hosker JP. Application of a structural model of glucose-insulin relations to assess beta-cell function and insulin sensitivity. Horm Metab Res Suppl 1990; 24:66-71 (review). http://www.ncbi.nlm.nih.gov/pubmed/2272629.

22) O'Rahilly S. Type 2 (non-insulin-dependent) diabetes: Is it the beta-cell's fault? Royal Society of Medicine, Current Medical Literature - Diabetes 1990; 7:63-68 (review).

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23) O'Rahilly S, Moller DE. Mutant insulin receptors in syndromes of insulin resistance. Clin Endocrinol (Oxf) 1992; 36:121-132 (review). doi:10.1111/j.1365-2265.1992.tb00945.x. http://www.ncbi.nlm.nih.gov/pubmed/1568345.

24) Moller DE, O'Rahilly S. Severe insulin resistance: clinical and pathophysiological features in ‘Insulin resistance’; edited by Moller DE; publ. Wiley-Blackwell 1993:50-81, ISBN 0471939773 (book chapter).

25) O'Rahilly S. Molecular aspects of non-insulin-dependent diabetes. Eye (Lond) 1993; 7:214-217 (review). doi:10.1038/eye.1993.51. http://www.ncbi.nlm.nih.gov/pubmed/7607337.

26) O'Rahilly S. Glucokinase and non-insulin-dependent diabetes. Clin Endocrinol (Oxf) 1993; 39:17-19 (commentary). doi:10.1111/j.1365-2265.1993.tb01745.x. http://www.ncbi.nlm.nih.gov/pubmed/8348703.

27) O’Rahilly S. Research gives clues to NIDDM causes. Diabetes Care 1994; 2:6-7 (review).28) Gray H, O'Rahilly S. Beta-cell dysfunction in non-insulin-dependent diabetes mellitus. Transplant Proc

1994; 26:366-370 (review). http://www.ncbi.nlm.nih.gov/pubmed/8171465.29) Gray H, O'Rahilly S. Toward improved glycaemic control in diabetes: what’s on the horizon? Arch Intern

Med 1995; 155:1137-1142 (review). doi:10.1001/archinte.1995.00430110034005. http://www.ncbi.nlm.nih.gov/pubmed/7763119

30) O'Rahilly S, Krook A, Humphreys P, Gray H. Insulin resistance in endocrine and metabolic disorders in ‘Horizons in medicine’ v6; edited by Holgate S; publ. Royal College of Physicians/Wiley-Blackwell 1995:146-163, ISBN 0865429596 (book chapter).

31) Krook A, O'Rahilly S. Mutant insulin receptors in syndromes of insulin resistance. Bailliere's Clin Endocrinol Metab 1996; 10:97-122 (review). doi:10.1016/S0950-351X(96)80330-2. http://www.ncbi.nlm.nih.gov/pubmed/8734453.

32) Shepherd PR, Nave BT, O'Rahilly S. The role of phosphoinositide 3-kinase in insulin signalling. J Mol Endocrinol 1996; 17:175-184 (review). doi:10.1677/jme.0.0170175. http://www.ncbi.nlm.nih.gov/pubmed/8981224.

33) Krook A, O’Rahilly S. Homozygous mutation in the insulin receptor. Clin Endocrinol (Oxf) 1996; 45:237-238 (commentary). doi:10.1046/j.1365-2265.1996.d01-1566.x. http://www.ncbi.nlm.nih.gov/pubmed/8881458.

34) O’Rahilly S, Krook A, Humphreys P, Whitehead J. Insights into insulin signalling from naturally-occurring mutations in the insulin signal transduction pathway. QJM 1996; 89:874 (review). doi:10.1093/qjmed/89.11.865.

35) Prins JB, O’Rahilly S, Chatterjee VKK. Steroid hormones and adipose tissue. Eur J Clin Invest 1996; 26:259-261 (review). doi:10.1046/j.1365-2362.1996.146269.x. http://www.ncbi.nlm.nih.gov/pubmed/8732481.

36) Prins JB, O'Rahilly S. Regulation of adipose cell number in man. Clini Sci (Lond) 1997; 92:3-11 (review). doi:10.1042/cs0920003. http://www.ncbi.nlm.nih.gov/pubmed/9038586.

*37) O'Rahilly S. Science, medicine and the future. Non-insulin dependent diabetes mellitus: the gathering storm. BMJ 1997; 314:955-959 (review). doi.org/10.1136/bmj.314.7085.955. http://www.ncbi.nlm.nih.gov/pubmed/9099123.

38) Baynes KCR, Whitehead J, Krook A, O’Rahilly S. Molecular mechanisms of inherited insulin resistance. QJM 1997; 90:557-562 (review). doi.org/10.1093/qjmed/90.9.557. http://www.ncbi.nlm.nih.gov/pubmed/9349447.

39) O’Rahilly S. Diabetes in midlife: planting genetic time bombs. Nat Med 1997; 3:1080-1081 (news and views). doi:10.1038/nm1097-1080. http://www.ncbi.nlm.nih.gov/pubmed/9334713.

*40) 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 (letter). http://www.ncbi.nlm.nih.gov/pubmed/9202122.

41) 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; 101:118-119 (letter). doi:10.1007/s004390050598. http://www.ncbi.nlm.nih.gov/pubmed/9385382.

42) Krook A, O’Rahilly S. Genetic defects in the insulin receptor and post-receptor signalling molecules in syndromes of severe insulin resistance in man. Topical Endocrinology 1997; 7:8-11 (review).

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43) Krook A, Humphreys PJ, O’Rahilly S. Molecular mechanisms of insulin resistance in ‘Molecular genetics of endocrine disorders’; edited by Thakkar RV; publ. Chapman and Hall (London) 1998:231-248, ISBN 0412589702 (book chapter).

44) O’Rahilly S. Human physiology: life without leptin. Nature 1998; 392:330-331 (news and views). doi:10.1038/32769. http://www.ncbi.nlm.nih.gov/pubmed/9537316.

45) Gregory R, Swinn RA, Wareham NJ, Curling V, Dalton KJ, Edwards OM, O’Rahilly S. An audit of a comprehensive screening programme for diabetes in pregnancy. Practical Diabetes 1998, 15:45-48. doi:10.1002/pdi.1960150208.

46) Wareham NJ, O’Rahilly S. The changing classification and diagnosis of diabetes. New classification is based on pathogenesis, not insulin dependence. BMJ 1998; 317:359-360 (editorial). doi:10.1136/bmj.317.7155.359. http://www.ncbi.nlm.nih.gov/pubmed/9694745.

47) Farooqi IS, Rau H, Whitehead J, O'Rahilly S. ob gene mutations and human obesity. Proc Nutr Soc 1998; 57:471-475 (review). doi:10.1079/PNS19980067. http://www.ncbi.nlm.nih.gov/pubmed/9794006.

48) Berger A, Brand M, O’Rahilly S. Uncoupling proteins: the unravelling of obesity? Increased understanding of mechanisms may lead, in time, to better drugs. BMJ 1998; 317:1607-1608 (editorial). doi:10.1136/bmj.317.7173.1607. http://www.ncbi.nlm.nih.gov/pubmed/9848896.

49) O’Rahilly S. The metabolic syndrome: all in the mind? Diabet Med 1999, 16:355-357 (commentary). doi:10.1046/j.1464-5491.1999.00107.x. http://www.ncbi.nlm.nih.gov/pubmed/10342334.

50) O’Rahilly S. Genetic defects causing severe early-onset obesity in ‘Regulation of pituitary hormone secretion’; edited by Beck-Peccoz P; publ. BioScientifica 1999, ISBN 1901978079 (book chapter).

51) O’Rahilly S. Insulin resistance syndromes in ‘Genetic insights in paediatric endocrinology and metabolism’; edited by O’Rahilly S, Dunger DB; publ. BioScientifica 2000, ISBN 1901978060 (book chapter).

52) Yeo GSH, Farooqi IS, Challis BG, Jackson RS, O’Rahilly S. The role of melanocortin signalling in the control of body weight: evidence from human and murine genetic models. QJM 2000; 93:7-14 (review). doi:10.1093/qjmed/93.1.7. http://www.ncbi.nlm.nih.gov/pubmed/10623776.

*53) Barsh GS, Farooqi IS, O’Rahilly S. Genetics of body-weight regulation. Nature 2000; 404:644-651 (review). doi:10.1038/35007519. http://www.ncbi.nlm.nih.gov/pubmed/10766251.

54) Montague CT, O’Rahilly S. The perils of portliness: causes and consequences of visceral adiposity. Diabetes 2000; 49:883-888 (review). doi:10.2337/diabetes.49.6.883. http://www.ncbi.nlm.nih.gov/pubmed/10866038.

55) Vidal-Puig A, O’Rahilly S. Obesity and diabetes: an avalanche of new information. Mol Med Today 2000; 6:221-223 (meeting review). doi:10.1016/S1357-4310(00)01714-7. http://www.ncbi.nlm.nih.gov/pubmed/10939842.

56) Farooqi IS, O’Rahilly S. Recent advances in the genetics of severe childhood obesity. Arch Dis Child 2000; 83:31-34 (review). doi:10.1136/adc.83.1.31. http://www.ncbi.nlm.nih.gov/pubmed/10868996.

57) O’Rahilly S. Uncoupling protein 2: adiposity angel and diabetes devil. Nat Med 2001; 7:770-772 (news and views). doi:10.1038/89877. http://www.ncbi.nlm.nih.gov/pubmed/11433333.

58) Vidal-Puig A, O’Rahilly S. Resistin: a new link between obesity and insulin resistance? Clin Endocrinol (Oxf) 2001; 55:437-438 (review). doi:10.1046/j.1365-2265.2001.01377.x. http://www.ncbi.nlm.nih.gov/pubmed/11678824.

59) Vidal-Puig A, O’Rahilly S. Metabolism: controlling the glucose factory. Nature 2001; 413:125-126 (commentary). doi:10.1038/35093198. http://www.ncbi.nlm.nih.gov/pubmed/11557965.

60) O’Rahilly S. Leptin: pathophysiology and implications for therapy. Eat Weight Disord 2001; 6(3 Suppl):21 (review). http://www.ncbi.nlm.nih.gov/pubmed/11706503.

61) Crowley VEF, Yeo GSH, O’Rahilly S. Obesity therapy: altering the energy intake-and-expenditure balance sheet. Nat Rev Drug Discov 2002; 1:276-286 (review). doi:10.1038/nrd770. http://www.ncbi.nlm.nih.gov/pubmed/12120279.

62) Savage DB, O’Rahilly S. Leptin: a novel therapeutic role in lipodystrophy. J Clin Invest 2002; 109:1285-1286 (commentary). doi:10.1172/JCI15326. http://www.ncbi.nlm.nih.gov/pubmed/12021242.

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63) O’Rahilly S. Insights into obesity and insulin resistance from the study of extreme human phenotypes. Eur J Endocrinol 2002; 147:435-441 (review). doi:10.1530/eje.0.1470435. http://www.ncbi.nlm.nih.gov/pubmed/12370103.

64) O’Rahilly S. Leptin: defining its role in humans by the clinical study of genetic disorders. Nutr Rev 2002; 60:S30-34 (review). doi:10.1301/002966402320634904. http://www.ncbi.nlm.nih.gov/pubmed/12403081.

65) Hales CN, O’Rahilly S. The aetiology of type 2 diabetes in ‘Oxford textbook of endocrinology’; edited by Wass JAH, Shalet SM; publ. Oxford University Press 2002, ISBN 0313277389 (book chapter).

66) Kopelman P, O’Rahilly S. Obesity and satiety in ‘Comprehensive clinical endocrinology 3rded’; edited by Besser GM, Thorner MO; publ. Harcourt Health Sciences 2002, ISBN 072343185X (book chapter).

67) Kopelman PG, O’Rahilly S. Obesity in ‘Oxford textbook of medicine 4thed’; edited by Warrell DA, Cox TM, Firth JD, Benz EJ; publ. Oxford University Press 2003, ISBN 0192629220 (book chapter).

68) Farooqi IS, Yeo GSH, O’Rahilly S. Binge eating as a phenotype of melanocortin 4 receptor gene mutations. N Engl J Med 2003:349:606-609 (letter). doi:10.1056/NEJM200308073490615. http://www.ncbi.nlm.nih.gov/pubmed/12908459.

69) Gurnell M, Savage DB, Chatterjee VKK, O’Rahilly S. The metabolic syndrome: peroxisome proliferator-activated receptor gamma and its therapeutic modulation. J Clin Endocrinol Metab 2003; 88:2412-2421 (review). doi:10.1210/jc.2003-030435. http://www.ncbi.nlm.nih.gov/pubmed/12788836.

70) O’Rahilly S, Farooqi IS, Yeo GSH, Challis BG. Minireview: Human obesity - lessons from monogenic disorders. Endocrinology 2003; 144:3757-3764 (review). doi:10.1210/en.2003-0373. http://www.ncbi.nlm.nih.gov/pubmed/12933645.

71) Farooqi IS, O’Rahilly S. Monogenic human obesity syndromes. Recent Prog Horm Res 2004; 59:409-424 (chapter). doi:10.1210/rp.59.1.409. http://www.ncbi.nlm.nih.gov/pubmed/14749512.

72) O’Rahilly S, Yeo GSH, Farooqi IS. Melanocortin receptors weigh in. Nat Med 2004; 10:351-352 (review). doi:10.1038/nm0404-351. http://www.ncbi.nlm.nih.gov/pubmed/15057231.

73) Coll AP, Challis BG, O’Rahilly S. Peptide YY3-36 and satiety: clarity or confusion? Endocrinology 2004; 145:2582-2584 (commentary). doi:10.1210/en.2004-0342. http://www.ncbi.nlm.nih.gov/pubmed/15140836.

74) Coll AP, Farooqi IS, Challis BG, Yeo GSH, O’Rahilly S. Proopiomelanocortin and energy balance: insights from human and murine genetics. J Clin Endocrinol Metab 2004; 89:2557-2562 (review). doi:10.1210/jc.2004-0428. http://www.ncbi.nlm.nih.gov/pubmed/15181023.

75) Semple RK, O’Rahilly S. PPAR and glucose homeostasis in ‘Insulin Resistance’; edited by Kumar S, O’Rahilly S; publ. John Wiley 2005:237-267, ISBN 0470850086 (book chapter).

76) Savage DB, O’Rahilly S. Syndromes of severe insulin resistance in ‘Insulin Resistance’; edited by Kumar S, O’Rahilly S; publ. John Wiley 2005:511-533, ISBN 0470850086 (book chapter).

77) Farooqi IS, O’Rahilly S. Genetics of obesity in ‘Endocrinology 5th ed’; edited by LJ De Groot, JL Jameson; publ. Saunders 2005:867-876, ISBN 0721603769.

78) Farooqi IS and O’Rahilly S. Monogenic obesity in humans. Annu Rev Med 2005; 56:443-458 (review). doi:10.1146/annurev.med.56.062904.144924. http://www.ncbi.nlm.nih.gov/pubmed/15660521.

79) Coll AP, Challis BG, Yeo GSH, Farooqi IS, O’Rahilly S. Melanocortin receptors and energy homeostasis. Curr Opin Endocrinol Diabet 2005; 12:205-210 (review). doi:10.1097/01.med.0000162078.80344.35.

80) O’Rahilly S, Barroso I, Wareham NJ. Genetic factors in type 2 diabetes: the end of the beginning? Science 2005; 307:370-373 (viewpoint). doi:10.1126/science.1104346. http://www.ncbi.nlm.nih.gov/pubmed/15662000.

81) 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; 22:814-815 (report). doi:10.1111/j.1464-5491.2005.01529.x. http://www.ncbi.nlm.nih.gov/pubmed/15910639.

82) O’Rahilly S, Wareham NJ. Genetic variants and common diseases – better late than never. N Engl J Med 2006; 355:306-308 (editorial). doi:10.1056/NEJMe068140. http://www.ncbi.nlm.nih.gov/pubmed/16855272.

83) O’Rahilly S, Farooqi IS. Genetics of obesity. Philos Trans R Soc Lond B Biol Sci 2006; 361:1095-1105 (review). doi:10.1098/rstb.2006.1850. http://www.ncbi.nlm.nih.gov/pubmed/16815794.

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*84) Farooqi S, O’Rahilly S. Genetics of obesity in humans. Endocr Rev 2006; 27:710-718 (review). doi:10.1210/er.2006-0040. http://www.ncbi.nlm.nih.gov/pubmed/17122358.

85) Michalik L, Auwerx J, Berger JP, Chatterjee VKK, 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. International Union of Pharmacology. LXI. Peroxisome proliferator-activated receptors. Pharmacol Rev 2006; 58:726-741 (review). doi:10.1124/pr.58.4.5. http://www.ncbi.nlm.nih.gov/pubmed/17132851.

86) Semple RK, Chatterjee VKK, O’Rahilly S. PPAR and human metabolic disease. J Clin Invest 2006; 116:581-589 (review). doi:10.1172/JCI28003. http://www.ncbi.nlm.nih.gov/pubmed/16511590.

87) 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; 47:207-212 (report). doi:10.1111/j.1748-5827.2006.00019.x. http://www.ncbi.nlm.nih.gov/pubmed/16573764.

*88) Coll AP, Farooqi IS, O’Rahilly S. The hormonal control of food intake. Cell 2007; 129:251-262 (review). doi:10.1016/j.cell.2007.04.001. http://www.ncbi.nlm.nih.gov/pubmed/17448988.

89) O’Rahilly S. Human obesity and insulin resistance: lessons from experiments of nature. Biochem Soc Trans 2007; 35:33-36 (review). doi:10.1042/BST0350033. http://www.ncbi.nlm.nih.gov/pubmed/17212584.

90) Farooqi IS, O’Rahilly S. Genetic factors in human obesity. Obes Rev 2007; 8:37-40 (review). doi:10.1111/j.1467-789X.2007.00315.x. http://www.ncbi.nlm.nih.gov/pubmed/17316299.

91) Brown M, Boon N, Brooks N, Brown E, Camm J, Caulfield M, Chilvers E, Gibson J, 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. Modernising medical careers, medical training application service, and the postgraduate medical education and training board: time for the emperors to don their clothes. Lancet 2007; 369:967-968 (comment). doi:10.1016/S0140-6736(07)60459-0. http://www.ncbi.nlm.nih.gov/pubmed/17382804.

92) 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. Medical training in the UK: sleepwalking to disaster. Lancet 2007; 369:1673-1675 (comment). doi:10.1016/S0140-6736(07)60754-5. http://www.ncbi.nlm.nih.gov/pubmed/17512840.

93) Savage DB, Semple RK, Chatterjee VKK, Wales JKH, Ross RJM, O’Rahilly S. A clinical approach to severe insulin resistance. Endocr Dev 2007; 11:122-132 (review). doi:10.1159/000111067. http://www.ncbi.nlm.nih.gov/pubmed/17986832.

94) Farooqi IS, O’Rahilly S. Genetics of chronic disease: obesity in ‘Genes and common diseases’; edited by Wright A, Hastie N; publ. Cambridge University Press 2007:328-343, ISBN 9780521833394 (book chapter).

95) O’Rahilly S. Human obesity and insulin resistance: lessons from experiments of nature. Novartis Found Symp 2007; 286:13-20. http://www.ncbi.nlm.nih.gov/pubmed/18269171 .

96) Farooqi IS, O’Rahilly S. Leptin and leptin receptor mutations in ‘Obesity genomics and postgenomics’; edited by Clement K, Sorensen TIA; publ. CRC Press 2007; 205-213 (book chapter), ISBN 0849380898.

97) Farooqi IS, O’Rahilly S. POMC and PC1 mutations in ‘Obesity genomics and postgenomics’; edited by Clement K, Sorensen TIA; publ. by CRC Press 2007; 213-221 (book chapter), ISBN 0849380898.

98) Farooqi IS, O’Rahilly S. Genetic evaluation of obese patients in ‘Handbook of obesity’; edited by Bray GA, Bouchard C; publ. Informa Healthcare USA 2008:45-55, ISBN 142005144X (book chapter).

99) Coll AP, Yeo GSH, Farooqi IS, O’Rahilly S. SnapShot: The hormonal control of food intake. Cell 2008; 135: 572:e1-2. doi:10.1016/j.cell.2008.10.014. http://www.ncbi.nlm.nih.gov/pubmed/18984167.

100) O’Rahilly S, Weir GC, Matthews DR. An appreciation of Robert Turner. Diabetes 2008; 57:2918-2921. doi:10.2337/db07-1644. http://www.ncbi.nlm.nih.gov/pubmed/18971441.

101) Farooqi IS, O’Rahilly S. Mutations in ligands and receptors of the leptin-melanocortin pathway that lead to obesity. Nat Clin Pract Endocrinol Metab 2008; 4:569-577 (review). doi:10.1038/ncpendmet0966. http://www.ncbi.nlm.nih.gov/pubmed/18779842.

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102) O’Rahilly S, Farooqi IS. Human obesity as a heritable disorder of the central control of energy balance. Int J Obes (Lond) 2008; 32:555-561 (review). doi:10.1038/ijo.2008.239. http://www.ncbi.nlm.nih.gov/pubmed/19136992.

*103) O’Rahilly S, Farooqi IS. Human obesity: a heritable neurobehavioral disorder that is highly sensitive to environmental conditions. Diabetes 2008; 57:2905-2910. doi:10.2337/db08-0210. http://www.ncbi.nlm.nih.gov/pubmed/18971438.

*104) O’Rahilly S. Human genetics illuminates the paths to metabolic disease. Nature 2009; 462:307-314 (review). doi:10.1038/nature08532. http://www.ncbi.nlm.nih.gov/pubmed/19924209.

105) Semple RK, Savage DB, O’Rahilly S. Sex hormone-binding globulin and risk of type 2 diabetes. N Engl J Med 2009; 361:2677 (letter). doi:10.1056/NEJMc0910143. http://www.ncbi.nlm.nih.gov/pubmed/20050387.

106) Farooqi IS, O’Rahilly S. Leptin: a pivotal regulator of human energy homeostasis. Am J Clin Nutr 2009; 89:980S-984S (review). doi:10.3945/ajcn.2008.26788C. http://www.ncbi.nlm.nih.gov/pubmed/19211814.

107) Boiani R, Cinti S, Savage DB, Vidal-Puig A, O’Rahilly S. Abdominal subcutaneous adipose tissue morphology in a patient with a dominant-negative mutation (P467L) in the nuclear receptor PPARG gene. Nutr Metab Cardiovasc Dis 2010; 20:e11-12 (letter). doi:10.1016/j.numecd.2009.10.018. http://www.ncbi.nlm.nih.gov/pubmed/20153617.

108) Savage DB, O’Rahilly S. Leptin therapy in lipodystrophy. Diabetologia 2010; 53:7-9 (review). doi:10.1007/s00125-009-1545-y. http://www.ncbi.nlm.nih.gov/pubmed/19802712.

109) Huang-Doran I, Sleigh A, Rochford JJ, O’Rahilly S, Savage DB. Lipodystrophy: metabolic insights from a rare disorder. J Endocrinol 2010; 207:245-255 (review). doi:10.1677/JOE-10-0272. http://www.ncbi.nlm.nih.gov/pubmed/20870709.

110) O’Rahilly S. Translating metabolic biochemistry into the clinic: an interview with Steve O’Rahilly; interview by Kathy Weston. Dis Model Mech 2011; 4:141-144 (review). doi:10.1242/dmm.007641. http://www.ncbi.nlm.nih.gov/pubmed/21357759.

111) Semple RK, Savage DB, Cochran EK, Gorden P, O’Rahilly S. Genetic syndromes of severe insulin resistance. Endocr Rev 2011; 32:498-514. doi:10.1210/er.2010-0020 (review). http://www.ncbi.nlm.nih.gov/pubmed/21536711.

112) Lowe CE, O’Rahilly S, Rochford JJ. Adipogenesis at a glance. J Cell Sci 2011; 124:2681-2686 (review). doi:10.1242/jcs.079699. http://www.ncbi.nlm.nih.gov/pubmed/21807935.

113) Parker VE, Savage DB, O’Rahilly S, Semple RK. Mechanistic insights into insulin resistance in the genetic era. Diabet Med 2011; 28:1476-1486 (review). doi:10.1111/j.1464-5491.2011.03463.x. http://www.ncbi.nlm.nih.gov/pubmed/21992440.

114) 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. Set points, settling points and some alternative models: theoretical options to understand how genes and environments combine to regulate body adiposity. Dis Model Mech 2011; 4:733-745 (review). doi:10.1242/dmm.008698. http://www.ncbi.nlm.nih.gov/pubmed/22065844.

115) Stears A, O’Rahilly S, Semple RK, Savage DB. Metabolic insights from extreme human insulin resistance phenotypes. Best Pract Res Clin Endocrinol Metab 2012; 26:145-157 (review). doi:10.1016/j.beem.2011.09.003. http://www.ncbi.nlm.nih.gov/pubmed/22498245.

116) Larder R, O’Rahilly S. Shedding pounds after going under the knife: guts over glory – why diets fail. Nat Med 2012; 18:666-667 (review). doi:10.1038/nm.2747. http://www.ncbi.nlm.nih.gov/pubmed/22561823.

117) Yeo GSH, O'Rahilly S. Uncovering the biology of FTO. Mol Metab 2012; 1:32-36. doi:10.1016/j.molmet.2012.06.001. http://www.ncbi.nlm.nih.gov/pubmed/24024116.

118) Speakman JR, O’Rahilly, S. Fat: an evolving issue. Dis Model Mech 2012; 5:569-573 (review). doi:10.1242/dmm.010553. http://www.ncbi.nlm.nih.gov/pubmed/22915015.

119) O'Rahilly S. A conversation with Stephen O'Rahilly; interviewed by Ushma S Neill. J Clin Invest 2013; 123:2335-2336. doi:10.1172/JCI70726 (review). http://www.ncbi.nlm.nih.gov/pubmed/23722908.

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120) O'Rahilly S, Farooqi IS. The genetics of obesity in humans; edited by De Groot LJ, Beck-Peccoz P, Chrousos G, Dungan K, Grossman A, Hershman JM, Koch C, McLachlan R, New M, Rebar R, Singer F, Vinik A, Weickert MO; Endotext [Internet]; publ. South Dartmouth (MA): MDText.com, Inc. 2013.http://www.ncbi.nlm.nih.gov/pubmed/25905292.

121) O'Rahilly S. 20 years of leptin: what we know and what the future holds. J Endocrinol 2014; 223:E1-3. doi:10.1530/JOE-14-0506 (review). http://www.ncbi.nlm.nih.gov/pubmed/25143632.

122) Farooqi IS, O’Rahilly S. 20 years of leptin: human disorders of leptin action. J Endocrinol 2014; 223:T63-70. doi:10.1530/JOE-14-0480 (review). http://www.ncbi.nlm.nih.gov/pubmed/25232148.

123) Tung LYC, Yeo GSH, O’Rahilly S, Coll AP. Obesity and FTO: Changing focus at a complex locus. Cell Metab 2014; 20:710-718. doi:10.1016/j.cmet.2014.09.010 (review). http://www.ncbi.nlm.nih.gov/pubmed/25448700 .

124) Farooqi IS, O’Rahilly S. Genetic obesity syndromes in ‘The genetics of obesity’; edited by Grant S; publ. Springer-Verlag New York 2014:23-32, ISBN 9781461486428 (book chapter). doi:10.1007/978-1-4614-8642-8. http://link.springer.com/chapter/10.1007%2F978-1-4614-8642-8_2.

Books Edited

1) Insulin resistance and cardiovascular disease; edited by O’Rahilly S; publ. BioScientifica 1999, ISBN 1901978095.

2) Genetic insights in paediatric endocrinology and metabolism; edited by O’Rahilly S, Dunger DB; publ. BioScientifica 2000, ISBN 1901978060.

3) Insulin resistance; edited by Kumar S, O’Rahilly S; publ. Wiley-Blackwell 2004, ISBN 0470850086.

4) Genetics of obesity syndromes; edited by Beales PL, Farooqi IS, O’Rahilly S; publ. OUP USA 2009, ISBN 9780195300161.

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http://link.springer.com/chapter/10.1007%2F978-1-4614-8642-8_2





commentaries, letters, and reviews - … · web view*48) krook a, whitehead jp, dobson sp,...

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