Stephen O’Rahilly, MD, FRS, FMedSci
Original Scientific Publications
(* Most significant contributions)
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O'Rahilly S , Nugent Z, Rudenski AS, Hosker JP, Burnett MA, Darling P, Turner RC
Beta-cell dysfunction, rather than insulin insensitivity, is the primary defect in familial type 2
diabetes.
Lancet 1986; II: 360-364
O'Rahilly S, Burnett MA, Smith RF, Darley JH, Turner RC
Haemolysis affects insulin but not C-peptide immuno-assay.
Diabetologia 1987; 30: 394: 396
Burnett MA, Del Vecchio M, Bown E, O'Rahilly S, Turner RC
Normal calcium-activated potassium channel in red cells in type 2 diabetes.
Diabetes Research 1987; 5: 19-21.
O'Rahilly S, Spivey RS, Holman RR, Nugent Z, Clark A, Turner RC
Type II diabetes of early onset: A distinct clinical and genetic syndrome?
Brit. Med. J. 1987; 294: 923-928
O'Rahilly S, Turner RC
Linkage analysis of the insulin receptor gene in MODY.
Diabetologia 1988;31: 185-187.
Patel P, O'Rahilly S, Ullrich A, Turner RC, Wainscoat JS
A new Sst 1 RFLP associated with human insulin receptor locus.
Nucleic Acids Research 1988; 16,2:5700
O'Rahilly S, Turner RC
Early-onset type 2 diabetes vs maturity-onset diabetes of the young: evidence for the existence of
two discrete diabetic syndromes.
Diabetic Medicine 1988; 5: 224-229
O'Rahilly S, Trembath RC, Patel P, Galton DJ, Turner RC, Wainscoat JS
Linkage analysis of the human insulin receptor gene in type 2 (non-insulin-dependent) diabetic
families and a family with maturity onset diabetes of the young.
Diabetologia 1988 ; 31:792-79
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, 10: 919-923
O'Rahilly S, Turner RC, Matthews DR
Impaired pulsatile secretion of insulin in relatives of patients with non-insulin-dependent
diabetes.
New Eng J Med 1988; 318:1225-1230.
O'Rahilly S, Patel P, Wainscoat JS, Turner RC
Analysis of the pro-opiomelanocortin locus in non-insulin dependent diabetic families.
Diabetes Research , 1989 10: 125-128
O'Rahilly S, Patel P, Wainscoat JS, Turner RC,
Analysis of the HepG2/ erythrocyte glucose transporter locus in a family with Type 2 (noninsulin-dependent) diabetes and obesity.
Diabetologia 1989; 32: 266-269
Patel P, Wainscoat JS, Hoppener J, Clark AS, O'Rahilly S
A PvuII polymorphism at the human islet amyloid polypeptide locus.
Nucleic Acids Research 1990
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Beer S, O'Rahilly S, Spivey RS, Hales CN, Turner RC
Plasma intact pro-insulin in first-degree relatives of Type 2 diabetic subjects.
Diabetes Research 1990; 14: 51-54
Patel P, O'Rahilly S, Buckle V, Nakamura Y, Turner RC, Wainscoat JS
Chromosome 11 allele loss in sporadic insulinoma.
J Clin Path 1990 ; 43: 377-378
Cook J, Patel P, Clark A, Hoppener J, Lips C, Mosselman S, O'Rahilly S, Page R, Wainscoat
JS, Turner RC
Non-linkage of the Islet amyloid polypeptide locus with Type 2 NIDDM .
Diabetologia 1991; 34: 103-8
O'Rahilly S, Choi WH, Patel P, Turner RC, Flier JS, Moller DE
Detection of mutations in the insulin receptor gene in NIDDM patients by analysis of singlestranded conformation polymorphisms.
Diabetes 1991; 40: 777-782
Choi WH, O'Rahilly S, Buse JB, Rees A, Morgan R, Flier JS, Moller DE
Molecular scanning of the insulin-responsive glucose transporter (GLUT4) gene in NIDDM
subjects.
Diabetes 1991; 40: 1712-1718
Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, Chiu KC, O'Rahilly S,
Watkins P, Wainscoat JS
Linkage of Type 2 diabetes to the glucokinase gene.
Lancet 1992 339: 1307-1310
O'Rahilly S, Patel P, Lehmann O, Tybjaerg-Hansen A, Nerup J, Turner RC Wainscoat JS
Multipoint linkage analysis of the short arm of chromosome 11 in NIDDM including maturity
onset diabetes of youth.
Human Genetics 1992; 89: 87-212.
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
Krook A, Stratton I, O'Rahilly S.
Rapid and simultaneous detection of multiple mutations by pooled and multiplex single
nucleotide primer extension: application to the study of insulin-responsive glucose transporter
and insulin receptor mutations in non-insulin-dependent diabetes.
Hum Mol Genet 1992; 1, 6: 391-395
Flier JS, Moller DE, Moses AC, O'Rahilly S, Chaiken R, Grigorescu F, Kahn BB, Weinreb JE,
Eastman R
Insulin-mediated pseudoacromegaly: Clinical and biochemical characterization of syndrome of
selective insulin resistance.
J Clin Endocrinol. Metab. 1993; 76, 6:1533-1541
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
Krook A, Brueton L, O'Rahilly S
Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism
Lancet 1993; 342: 277-278
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
Humphreys P, McCarthy M, Tuomilehto J, Tuomilehto-Wolf E, Stratton I,
Morgan R, Rees A, Owens D, Stengard J, Nissinen A, Hitman G, Turner RC, O'Rahilly S
Chromosome 4q locus associated with insulin resistance in Pima Indians: Studies in three
European NIDDM Populations
Diabetes 1994; 43, 6:800-804
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O'Rahilly S, Hattersley A, Vaag A, Gray H
Insulin resistance as the major cause of impaired glucose tolerance: A self-fulfilling prophesy?
Lancet 1994; 344, 8922:585-589
Gray H, Wreghitt T, Stratton I, Alexander G, Turner RC, O'Rahilly S
High Prevalence of Hepatitis C infection in Afro-Caribbean patients with Type 2 diabetes and
abnormal liver function tests.
Diabetic Medicine 1995; 12, 3:244-249
Poulton J, O'Rahilly S, Morten KJ and Clark A
Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome
Diabetologia 1995; 38, 7:868-871
Krook A, Bell JA, Robertson ME, Brueton L, O'Rahilly S
Prenatal analysis of the insulin receptor gene in a family with leprechaunism
Prenatal Diagnosis 1995;15:669-671
Swinn RA, Wareham NJ, Gregory R, Curling V, Clark PMS, Dalton KJ,
Edwards OM, O'Rahilly S
Excessive secretion of insulin precursors characterizes and predicts gestational diabetes.
Diabetes 1995; 44, 8:911-915
O’Rahilly S, Gray H, Humphreys PJ, Krook A, Polonsky K, White A, Gibson S, Taylor K, Carr C.
Impaired processing of prohormones associated with abnormalities of glucose homeostasis and
adrenal function.
New Eng J Med 1995; 333, 21:1386-1390
Krook A, Moller DE, Dib K, O’Rahilly S
Two naturally-occurring mutant receptors phosphorylate insulin receptor substrate-1 (IRS-1) but
fail to mediate the biological effects of insulin.
J Biol Chem 1996; 271, 12:7134-7140
Krook A, Soos M, Kumar S, Siddle K, O’Rahilly S
Functional activation of mutant insulin receptor by monoclonal antibody.
Lancet 1996; 347, 9015:1586-1590
Talbot JA, Bicknell EJ, Rajhowka M, Krook A, O’Rahilly S, Clayton RN
Molecular Scanning of the insulin receptor gene in women with polycystic ovarian syndrome
J Clin Endocrinol. Metab. 81,5:1979-1983.
Kumar S, Durrington PN, O’Rahilly S, Laing I, Humphreys PJ, Olukoga AO, Bhatnagar D,
Mackness MI, Davis JRE, Boulton AJM
Severe insulin resistance, diabetes mellitus, hypertriglyceridemia and pseudoacromegaly.
J Clin Endocrinol. Metab, 81,10:3465-3468.
Jackson SN, Howlett TA, McNally PG, O’Rahilly S, Trembath RC
Dunnigan-Kobberling Syndrome: an autosomal dominant form of partial lipodystrophy.
Q. J. Medicine 1997; 90:27-36
Zaidi F, Wareham NJ, McCarthy M, Holdstock J, Kalloo-Hosein H, Krook A, Swinn R,
O’Rahilly S
Homozygosity for a common polymorphism in the islet-specific promoter of the glucokinase
gene is associated with a reduced early insulin response to oral glucose in pregnant women.
Diabetic Medicine 1997; 14, 3:228-234.
Montague CT, Prins J, Sanders L, Digby J, O’Rahilly S
Depot- and sex-specific differences in human leptin mRNA expression: Implications for the
control of regional fat distribution.
Diabetes 1997; 46, 3:342-347.
Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE,
Mohamed SN, Hurst JA, Cheatham KH, Earley AR, Barnett AH, Prins JB, O’Rahilly S
Congenital leptin deficiency is associated with severe early-onset obesity in humans.
Nature 1997; 387, 6636:903-908.
Jackson RS, Creemers JWM, Ohagi S, Raffin-Sanson M-L, Sanders L, Montague C, Hutton JC,
O’Rahilly S
Obesity and impaired prohormone processing associated with mutations in the human
prohormone convertase 1 (PC1) gene.
Nature Genetics 1997; 16,3:303-306.
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Lee PJ, Cranston I, Amiel SA, O’Rahilly S, Aynsley Green A.
Effect of metformin on glucose disposal and hyperinsulinaemia in a 14-year-old boy with
acanthosis nigricans.
Hormone Research 1997; 48, 2:88-92.
Whitehead J, Humphreys PJ, Dib K, Goding J, O’Rahilly S
Expression of the putative inhibitor of the insulin receptor tyrosine kinase PC-1 in dermal
fibroblasts from patients with syndromes of severe insulin resistance.
Clinical Endocrinology 1997; 47,1:65-70.
Kalloo-Hosein HE, Whitehead JP, Soos M, Tavare JM, Siddle K, O’Rahilly S
Differential signalling to glycogen synthesis by the intracellular domain of the insulin versus the
IGF-1 receptor: Evidence for studies of TrkC-chimeras.
J Biol Chem 1997; 272, 39: 24325-24332.
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; 46,12:1939-1944.
Panz VR, Raal FJ, O’Rahilly S, Kedda M-A, Joffe BI
Insulin receptor substrate-1 gene variants in lipoatrophic diabetes mellitus and non-insulindependent diabetes mellitus: a study of South African black and white subjects.
Hum Genet 1997; 101, 1:118-119.
Adams M, Montague C, Prins J, Holder J, Sewter C, Sanders L, Chatterjee VKK, O’Rahilly S
Activators of PPAR have depot-specific effects on human pre-adipocyte differentiation.
J Clin Invest 1997; 100:3149-53.
Krook A, Whitehead JP, Dobson SP, Griffiths MR, Ouwens M, Maassen JA, Tavare J,
O’Rahilly S
Two naturally occurring mutations in the insulin receptor tyrosine kinase domain provide
evidence that PI3-kinase activation alone is insufficient for the mediation of the metabolic effects
of insulin
J Biol Chem. 1997; 272, 48:30208-30214.
Digby JE, Montague CT, Sewter CP, Sanders S, Wilkison W, O’Rahilly S. Prins JB.
Thiazolidinedione exposure increases the expression of uncoupling protein-1 in cultured human
preadipocytes.
Diabetes 1998; 47, 1:138-141.
Dib K, Whitehead J, Humphreys PJ, Soos M, Baynes K, Kumar S, Harvey T, O’Rahilly S
Impaired activation of PI3-kinase by insulin in fibroblasts from patients with severe insulin
resistance and pseudo-acromegaly: a disorder characterised by selective post-receptor insulin
resistance.
J Clin Invest 1998; 101,5:1111-1120.
Wareham N, Swinn R, Fineman M, Koda J, Taylor K, Williams D, O’Rahilly S
Gestational diabetes mellitus is associated with an increase in the total concentration of amylin
molecules.
Diabetes Care 1998, 21,4:668-669.
Whitehead J, Humphreys P, Krook A, Jackson R, Hayward A, Lewis H, Siddle K, O’Rahilly S
Molecular scanning of the insulin receptor substrate 1 gene in subjects with severe insulin resistance:
detection and functional analysis of a naturally occurring mutation in a YMXM motif.
Diabetes 1998, 47:837-839
Kalidas K, Dow E, Saker PJ, Wareham N, Halsall D, Jackson RS, Chan S-P, Gelding S, Walker
M, Kousta E, Johnston DG, O’Rahilly S, McCarthy M
oconvertase 1 in obesity, gestational diabetes and NIDDM – no evidence for a major
susceptibility role.
Diabetes 1998; 47, 2:287-289.
Whitehead J, Soos M, Jackson R, Tasic V, Kocova M, O’Rahilly S
Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue
Syndrome
Diabetes 1998, 47:1362-64.
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Montague CT, Prins JB, Sanders L, Zhang J-L, Sewter CP, Digby JE, Byrne CD, O’Rahilly S
Depot-related gene expression in human subcutaneous & omental adipocytes.
Diabetes 1998; 47:1384-1391.
Krook A, Digby J, O’Rahilly S, Zierath J, Wallberg-Henriksson H
Uncoupling protein 3 is reduced in skeletal muscle of NIDDM patients..
Diabetes 1998; 47:1528-1531.
Yeo G, Farooqi IS, Aminian S, Halsall D, Stanhope R, O’Rahilly S.
A frameshift mutation in MC4R associated with dominantly inherited human obesity.
Nature Genetics 1998; 20:111-112.
Ledgerwood EC, Prins JB, Bright NA, Johnson DR, Wolfreys K, Pober JS, O’Rahilly S, Bradley
JR
Tumor necrosis factor is delivered to mitochondria where a tumor necrosis factor-binding protein
is localized.
Laboratory Investigation 1998, 78, 12:1583-1589.
Prins JB, Ledgerwood EC, Ameloot P, Vandenabeele P, Faraco PR, Bright NA, O’Rahilly S,
Bradley JR.
Tumor necrosis factor-induced cytotoxicity is not related to rates of mitochondrial morphological
abnormalities or autophagy-changes that can be mediated by TNFR-I or TNFR-II.
Bioscience Reports 1998, 18, 6:329-340.
Rau H, Reaves B, O’Rahilly S, Whitehead JP.
Truncated human leptin (133) associated with extreme obesity undergoes proteasomal
degradation following defective intracellular transport.
Endocrinology 1999; 140, 4:1718-1723.
Farooqi S, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA,
McCamish MA, O’Rahilly S
Effects of recombinant leptin therapy in a child with congenital leptin deficiency.
New Eng J Med, 1999, 341, 12: 879-884.
Garg A, Wilson R, Barnes R, Arioglu E. Zaidi Z, Gurakan F, Kocak N, O’Rahilly S, Taylor S,
Patel S, Bowcock A.
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.
J Clin Endocrinol Metab, 1999; 84 (9):3390-4.
Jackson RS, O’Rahilly S, Brain C, Nussey S
Proopiomelanocortin products and human early-onset obesity.
J Clin Endocrinol Metab, 1999; 84:819-20.
Urso B, Cope DL, Kalloo-Hosein HE, Hayward AC, Whitehead JP, O’Rahilly S, Siddle K
Differences in signalling properties of the cytoplasmic domains of the insulin receptor & insulinlike growth factor receptor in 3T3-L1 adipocytes.
J Biol Chem 1999; 274, 43:30864-73.
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 Letters 1999; 460, 3:423-6.
Barroso I, Gurnell M, Crowley VEF, Agostini M, Schwabe JW, Soos MA, Maslen GLI,
Williams TDM, Schafer AJ, Lewis H, Chatterjee VKK, O’Rahilly S.
Dominant-negative mutations in human PPAR are associated with severe insulin resistance,
diabetes mellitus & hypertension.
Nature 1999; 402, 6764:880-883.
Caronia S, Taylor K, Pagliaro L, Carr C, Palazzo U, Petrik J, O’Rahilly S, Shore S, Tom BDM,
Alexander GJM
An association between non-insulin dependent diabetes mellitus and chronic hepatitis C virus
infection.
Hepatology 1999; 30, 4:1059-1063.
Sewter CP, Digby JE, Blows F, Prins J, O’Rahilly S
Regulation of tumour necrosis factor alpha release from human adipose tissue in vitro.
J of Endocrinology 1999; 163:33-38.
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Huxtable SJ, Saker PJ, Haddad L, Walker M, Frayling TM, Levy JC, Hitman GA, O’Rahilly S,
Hattersley AT, McCarthy MI.
Analysis of parent-offspring trios provides evidence for linkage & association between the
insulin gene & type 2 diabetes mediated exclusively through paternally-transmitted class III
VNTR alleles.
Diabetes 2000; 49,1:126-130.
Shackleton S, Lloyd D, Jackson S, Evans R, Niermeijer M, Singh B, Schmidt H, Brabant G,
Kumar S, Durrington P, Gregory S, O’Rahilly S, Trembath R.
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
Nature Genetics 2000; 24, 2:153-156.
Frayling TM, McCarthy MI, Walker M, Levy JC, O’Rahilly S, Hitman GA, Subba Rao PV,
Bennett AJ, Jones EC, Menzel S, Ellard S, Hattersley AT.
No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and
20 in United Kingdom Caucasians.
J Clin Endocrinol Metab, 2000; 85, 2:853-857.
Baynes KCR, Beeton CA, Panayotou G, Stein R, Soos M, Hanson T, Simpson H, O’Rahilly S,
Shepherd PR, Whitehead JP.
Natural variants of human p85 phosphoinositide 3-kinase in severe insulin resistance: a novel
variant with impaired insulin-stimulated lipid kinase activity.
Diabetologia 2000, 43:321- 331.
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 of Obesity 2000; 24:585-592.
Challis B, Yeo G, Farooqi S, Luan J, Aminian S, Halsall D, Keogh J, Wareham N, O’Rahilly S
The CART gene & human obesity:. Mutational analysis & population genetics.
Diabetes 2000; 49, 5:872-875.
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.
Rau H, Kocova M, O’Rahilly S, Whitehead J
Naturally occurring amino acid substitutions at Arg 1174 in the human insulin receptor result in
differential effects on receptor biosynthesis and hybrid formation leading to discordant clinical
phenotypes.
Diabetes 2000; 49:1264-1268.
Farooqi IS, Yeo GSH, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O’Rahilly S
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor
deficiency.
J Clin Invest. 2000; 106, 2:271-279.
Farooqi IS, Jones MK, Evans M, O’Rahilly S
Triple H syndrome: A novel auto-immune endocrinopathy characterised by dysfunction of the
hippocampus, hair follicle and hypothalamic-pituitary-adrenal axis.
J Clin Endocrinol Metab, 2000; 85,8:2644-2648.
Ledgerwood EC, O’Rahilly S, Surani M A
The imprinted gene Peg3 is not essential for TNF signalling.
Lab Invest. 2000; 80:1509-1511.
Bano G, Rodin DA, White A, O’Rahilly S, Nussey SS.
Is the defect in prohormone processing in type 2 diabetes mellitus restricted to the beta cell?
Diabetic Medicine 2001, 18, 1:17-21.
Luan J, Browne PO, Harding A-H, Halsall DJ, O’Rahilly S, Chatterjee VKK, Wareham NJ.
Evidence for Gene-Nutrient Interaction at the PPAR gamma locus.
Diabetes 2001; 50:686-689.
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Halsall DJ, Luan J, Saker P, Huxtable S, Farooqi IS, Keogh J, Wareham NJ, O’Rahilly S
Uncoupling protein 3 genetic variants in human obesity: the c-55t promoter polymorphism is
negatively correlated with body mass index in a UK Caucasian population.
Int J of Obesity 2001; 25:472-477.
Nugent C, Prins JB, Whitehead JP, Wentworth JM, Chatterjee VKK, O’Rahilly S
Arachidonic acid stimulates glucose uptake in 3T3-L1 adipocytes by increasing GLUT1 &
GLUT4 levels at the plasma membrane.
J Biol Chem 2001; 276:9149-915.
Niesler CU. Prins JB. O'Rahilly S. Siddle K. Montague CT.
Adipose depot-specific expression of clAP2 in human preadipocytes and modulation of
expression by serum factors and TNF alpha.
Int J of Obesity 2001; 25(7):1027-1033.
Urso B, Niesler CU, O’Rahilly S, Siddle K
Comparison of anti-apoptotic signalling by the insulin receptor & IGF-1 receptor in preadipocytes &
adipocytes.
Cellular Signalling 2001; 13:279-285
Ogilvy-Stuart A, Soos MA, Hands SJ, Anthony MY, Dunger DB, O’Rahilly S
Hypoglycaemia & resistance to ketoacidosis in a human without functional insulin receptors.
J Clin Endocrinol Metab 2001; 86(7):3319-3326.
Wiltshire S, Hattersley AT, Hitman GA, Walker M, Levy JC, Sampson M, O’Rahilly S,
Frayling TM, Bell JI, Lathrop GM, Bennett A, Dhillon R, Fletcher C, Groves CJ, Jones E,
Prestwich P, Simecek N, Rao PV, Wishart M, Foxon R, Howell S, Smedley D, Cardon LR,
Menzel S, McCarthy MI.
A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the diabetes
UK Warren 2 repository): analysis of 573 pedigrees provides independent replication of a
susceptibility locus on chromosome 1Q.
Am J Hum Genet 2001; 69(3):553-69.
Evans JC, Frayling TM, Cassell PG, Saker PJ, Hitman GA, Walker M, Levy JC, O’Rahilly S,
Pamidighantam VSR, Bennett AJ, Jones EC, Menzel S, Prestwich P, Simecek N, Wishart M, Dhillon
R, Fletcher C, Millward A, Demaine A, Wilkin T, Horikawa Y, Cox NJ, Bell GI, Ellard S, McCarthy
MI, Hattersley AT.
Association of the calpain-10 gene with type 2 diabetes mellitus in the United Kingdom.
Am J Hum Gen, 2001; 69(3):544-52.
Magre J, Delepine M, Khallouf E, Gedde-Dahl T, Van Maldergem L, Sobel E, Papp J, Meier M,
CGL Working Group (S O’Rahilly is a member), Lathrop M, Capeau J.
Mutations in the human homologue of Gng31g cause 11q13-linked congenital generalized
lipodystrophy.
Nature Genetics 2001; 28 (4):365-75.
Savage D, Sewter C, Klenk E, Segal D, Vidal-Puig A, Considine R, O’Rahilly S.
Resistin/Fizz3 expression in relation to obesity.
Diabetes 2001; 50(10):2199-2202.
Nugent C, Prins JB, Whitehead JP, Wentworth JM, Chatterjee VKK, O’Rahilly S
Potentiation of glucose uptake in 3T3-L1 adipocytes by PPAR agonists is maintained in cells
expressing a PPR dominant-negative mutant: evidence for selectivity in the downstream
responses to PPAR activation.
Molecular Endocrinology 2001; 15:1729-1738.
Farooqi IS, Keogh J, Kamath S, Jones S, Gibson W, Trussell R, Jebb S, Lip G, O’Rahilly S
Partial leptin deficiency increases adiposity in humans.
Nature 2001; 414:34-35.
Meirhaeghe A, Luan A, Selberg-Franks P, Hennings S, Mitchell J, Halsall D, O’Rahilly S,
Wareham N .
The effect of the Gly16Arg Polymorphism of the b2-Adrenergic Receptor Gene
on Plasma Free Fatty Acid Levels is Modulated by Physical Activity.
J Clin Endocrinol Metab 2001; 86:5881-7.
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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; 108:437-45.
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Soos MA, Jensen J, Brown RA, O’Rahilly S, Shepherd, Whitehead JP
Class II phosphoinositide 3-kinase is activated by insulin but not by contraction in skeletal
muscle.
Archives of Biochemistry & Biophysics 2001; 396,2:244-248
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Wiltshire S, Frayling TM, Hattersley AT, Hitman GA, Walker M, Levy JC, O’Rahilly S, Groves
CJ, Menzel S, Cardon LR, McCarthy MI.
Evidence for linkage of stature to chromosome 3p26 in a large U.K. family data set ascertained
for type 2 diabetes.
Am J Hum Genet 2002; 70, 2:543-6.
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Combs T, Wagner J, Berger J, Doebber T, Wang W-J, Zhang B-B, Tanen M, Berg A, O’Rahilly
S, Savage D, Chatterjee VKK, Weiss S, Larson P, Gottesdiener K, Bertz B, Charron J, Scherer P,
Moller D.
Induction of Acrp30 levels by PPARgamma agonists: a potential mechanism of insulin
sensitization.
Endocrinology 2002; 143, 3:998-1007.
*99) Sewter C, 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(3):718-723.
100) Lelliot C, Logie L, Sewter C, Berger D, Jani P, Blows F, O’Rahilly S, Vidal-Puig A
Lamin expression in human adipose cells in relation to anatomical site and differentiation state.
J Clin Endocrinol Metab 2002; 87(2):728-734..
101) Sewter C, Berger D, Considine R, Medina G, Rochford J, Ciaraldi T, Henry R, Dohm L, Flier J,
O’Rahilly S and Vidal-Puig A
Human Obesity and Type 2 Diabetes are Associated with Alterations in SREBP1 Isoform
Expression which are Reproduced ex vivo by TNFalpha.
Diabetes 2002; 51, 4:1035-41.
102) Singhal A, Farroqi IS, O’Rahilly S, Cole TJ, Fewtrell M, Lucas A
Early nutrition and leptin concentrations in later life.
Am J Clin Nutr 2002; 75, 6:993-9.
103) Roche HM, Noone E, Sewter C, McBennett S, Savage D, Gibney MJ, O’Rahilly S, Vidal-Puig
AJ
Isomer-dependent metabolic effects of conjugated linoleic acid: insights from molecular markers
sterol regulatory element-binding protien-1c and LXRalpha.
Diabetes 2002; 51, 7:2037-44,
*104) Challis BG, Pritchard LE, Creemers JWM, Delplanque J, Keogh JM, Luan J, Wareham NJ,. Yeo
G, Bhattacharyya S, Froguel P, White A, Farooqi IS, O'Rahilly S
A missense mutation disrupting a dibasic prohormone processing site in
proopiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel
molecular mechanism
Human Molecular Genetics 2002; 11, 17:1997-2004.
105) Berger D, Whitehead JP, Barroso I, Soos M, Yeo G, Schafer AJ, O’Rahilly S
Genetic variants of insulin receptor substrate-1 (IRS-1) in syndromes of severe insulin resistance.
Functional analysis of Gly1158Glu and Ala513Pro IRS-1.
Diabetic Medicine, 2002; 19, 10: 804-9.
*106) Savage DB, Agostini M, Barroso I, Gurnell M, Luan J, Meirhaeghe A, Harding A-H, Ihrke G, Soos
MA, Ratanayagam O, George S, Berger D, Thomas EL, Bell JD, McCarthy M, Hattersley AT,
Hitman GA, Levy J, Walkers M, Meeran K, Ross R, Vidal-Puig A, Wareham NJ, O’Rahilly S,
Chatterjee VKK, Schafer AJ.
Digenic Inheritance of Severe Insulin Resistance in a Human Pedigree.
Nature Genetics 2002; 31: 379-384 (* corresponding author)
95)
8
107)
108)
*109)
*110)
111)
112)
113)
*114)
*115)
*116)
117)
118)
Sewter C, Blows F, Considine R, Vidal-Puig A, O’Rahilly S
Differential effects of adiposity on PPAR1 and 2 mRNA expression in human adipocytes.
J Clin Endocrinol Metab 2002; 87, 9:4203-4207.
Van Maldergem L, Magré J, Khallouf ET, Gedde-Dahl T, Délépine M, Trygstad O, Seemanova
E, Stephenson T, Albott CS, Bonnici F, Panz VF, Medina JL, Bogalho P, Huet F, Savasta S,
Verloes A, Robert J-J, Loret H, de Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen JA,
Polak M, Lacombe D, Kahn R, Lemos Silveira E, Homero D'Abronzo F, Grigorescu F, Lathrop
M, Capeau J, and O'Rahilly S
Genotype-Phenotype Relationships in Berardinelli-Seip Congenital Lipodystrophy
Journal of Medical Genetics 2002; 39, 10:722-723.
Farooqi IS, Matarese G, Lord GM,.Keogh JM, Lawrence E, Agwu C, Sanna V,. Jebb SA,
Perna F, Fontana S, Lechler RI, DePaoli AM, O’Rahilly S.
Beneficial effects of leptin on obesity, T cell hyporesponsiveness and neuroendocrine/metabolic
dysfunction of human congenital leptin deficiency.
J Clin Invest 2002; 110, 8: 1093-1103.
Mulligan C, Rochford J, Denyer G, Stephen R, Yeo G, Freeman T, Siddle K, O’Rahilly S.
Microarray analysis of insulin & IGF-1 receptor signalling reveals the selective up-regulation of
the mitogen HB-EGF by IGF-1
J Biol Chem 2002; 277, 45:42480-7.
George S, Johansen A, Soos MA, Mortensen H, Gammeltoft S, Saudek V, Siddle K, Hansen L,
O’Rahilly S.
Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally
abnormal receptor which is unable to bind insulin & causes Donohue’s Syndrome in a human
subject.
Endocrinology 2003; 144, 2:631-637.
Singhal A, Farooqi S, Cole T, O’Rahilly S, Fewtrell M, Kattenhorn M, Lucas A, Deanfield J.
Early nutrition and leptin concentrations in later life.
Circulation 2002; 106, 15:1919-24.
Haqq AM, Farooqi IS, O’Rahilly S, Stadler DD, Rosefeld RG, Pratt KL, LaFranchi SH, Purnell
JQ.
Serum ghrelin levels are inversely correlated with body mass index, age, and insulin
concentrations in normal children and are markedly increased in Prader-Willi Syndrome.
J Clin Endocrinol Metab 2003; 88(1):174-8.
Yeo G, Lank E, Farooqi S, Keogh J, Challis B, O’Rahilly S.
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity
disrupts receptor function through multiple molecular mechanisms.
Human Molecular Genetics 2003; 12, 5:561-574.
Savage DB, Tan GD, Acerini CL, Jebb SA, Agostini M, Gurnell M, Williams RL, Umpleby M,
Thomas L, Bell JD, Dixon AK, Dunne F, Boiani R, Cinti S, Vidal-Puig A, Karpe F, Chatterjee
VKK, O’Rahilly S.
The human metabolic syndrome resulting from dominant-negative mutations in the nuclear
receptor PPARgamma.
Diabetes 2003; 52(4) 910-917.
Farooqi IS, Keogh JM, Yeo G, Lank E, Cheetham T, Genetics of Obesity Study Group,
O’Rahilly S.
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor.
New Eng J Med 2003; 348(12):1085-95.
Hung C C-C, Farooqi IS, Ong K, Luan J, Keogh JM, Pembrey M, Yeo G,
Dunger D, Wareham NJ, O' Rahilly S
The contribution of variants in the small heterodimer partner gene to birthweight, adiposity
& insulin levels: Mutational analysis & association studies in multiple populations.
Diabetes 2003; 52: 1288-1291.
Bhattachyaryya S, Luan J, Challis B, Schmitz C, Clarkson P, Franks P, Middelberg R, Keogh
J, Farooqi S, Montague C, Brennand J, Wareham N, O’Rahilly S
9
Association of polymorphisms in GPR10, the gene encoding the prolactin-releasing peptide
receptor with blood pressure, but not obesity, in a UK Caucasian population.
Diabetes 2003; 52:1296-9.
119) Groves CJ, Wiltshire S, Smedley D, Owen K, Frayling T, Walker M, Hitman G, Levy J,
O’Rahilly S, Menzel S, Hattersley A, McCarthy M.
Association & haplotype analysis of the insulin-degrading enzyme IDE gene, a strong positional
& biological candidate for type 2 diabetes susceptibility.
Diabetes 2003; 52:1300-5.
120) Meirhaeghe A, Crowley V, Lenaghan C, Lelliot C, Green K, Stewart A, Hart K, Schinner S,
Sethi JK, Yeo G, Brand MD, Cortright R, O’Rahilly S, Montague C, Vidal-Puig A.
Characterization of the human, mouse & rat PGC-1 beta (peroxisome-proliferator-activated
receptor-gamma co-activator 1 beta) gene in vitro & in vivo.
Biochem J 2003:373:155-65.
121) Franks P, Farooqi IS, Luan J, Wong MY, Halsall I, O’Rahilly S, Wareham NJ.
Does physical activity energy expenditure explain the between-individual variation in plasma
leptin concentrations after adjusting for differences in body composition?
J Clin Endocrinol Metab 2003; 88:3258-63.
122) Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P O'Rahilly S, Zaidi Z, Gurakan F,
Arslanian SA, Klar A, Ricker A, White NH, Bindl L, Herbst K, Kennel K, Patel SB, Al-Gazali
L, Garg A
Phenotypic and Genetic heterogeneity in Congenital Generalized Lipodystrophy..
J Clin Endocrinol Metab 2003; 88, 10:4840-7.
123) Semple RK, Crowley VC, Sewter CP, Laudes M, Christodoulides C, Considine RV, Vidal-Puig
A, O'Rahilly S
Expression of the thermogenic nuclear hormone receptor coactivator PGC-1alpha is reduced in
the adipose tissue of morbidly obese subjects.
Int J Obes Relat Metab Disord 2004; 28:176-179.
*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 betacell function as well as insulin action.
PloS Biol 2003; 1(1):E20 (* 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 PH, , Lindley KJ, O’Rahilly S
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein
convertase 1 deficiency.
.J Clin Invest 2003; 112, 10:1550-1560.
126) Franks PW, Barroso I, Luan J, Ekelund U, Crowley V, Brage S, Sandhy MS, Jakes R,
Middelberg R, Harding AH. Schafer A, O’Rahilly S, Wareham NJ.
PGC-1alpha genotype modifies the association of volitional energy expenditure with VO2max.
Med Sci Sports Exerc 2003; 35, 12:1998-2004.
127) Agostini M, Gurnell M, Savage D, Wood E, Smith A, Rajanayagam O, Garnes K, Levinson S,
Xu HE, Schwabe J, Willson T, O’Rahilly S, Chatterjee K
Tyrosine agonists reverse the molecular defects associated with dominant negative mutations in
human PPARgamma.
Endocrinology 2003; 145:1537-38.
128) Donohoue P, Tao YX, Collins M, Yeo G, O’Rahilly S, Segaloff DL
Deletion of codon 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an
obese female.
J Clin Endocrinol Metab 2003; 88, 12: 5841-5.
129) Okubo Y, Siddle K, Firth H, O’Rahilly S, Wilson L, Willatt L, Fukushima T.
10
*130)
131)
132)
133)
134)
135)
*136)
*137)
138)
*139)
140)
Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the
type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the
IGF1R gene.
J Clin Endocrinol Metab 2003; 88, 12:5981-8.
Seminara S, Messenger S, Chatzidaki E, Thresher R, Acierno J, Shagoury J, Bo-Abbas Y,
Kuohung W, Schwinof K, Hendrick A, Zahn D, Dixon J, Kaiser U, Slugenhaupt S, Gusella J,
O’Rahilly S, Carlton M, Crowley W, Apraicio S, Colledge W
The GPR54 gene as a regulator of puberty.
N Engl J Med 2003; 349, 17:1614-27.
Challis BG, Pinnock SB, Coll AP, Carter RN, Dickson SL, O’Rahilly S
Acute effects of PYY3-36 on food intake and hypothalamic neuropeptide expression in the
mouse.
Biochem & Biophys Res Comm 2003; 311, 4:915-9.
Franks P, Luan J, Browne P, Harding AH, O’Rahilly S, Chatterjee K, Wareham NJ
Does peroxisome proliferator-activated receptor gamma genotype (Pro12ala) modify the
association of physical activity and dietary fate with fasting insulin level?
Metabolism 2004, 53, 1:11-6.
Franks P, Bhattacharyya S, Luan J, Montague C, Brennand J, Challis B, Brage S, Ekelund U,
Middelberg R, O’Rahilly S, Wareham N.
Association between physical activity & blood pressure is modified by variants in the G-protein
coupled receptor 10.
Hypertension 2004; 43:1-5.
Hussain K, Bodamer OAF, Cameron FJ, Camacho-Hubner C, Soos MA, Jones J, Krywaych S,
O’Rahilly S, Aynsley-Green A.
Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with
hemihypertropy: ?A new syndrome.
Hormone Research 2004; 61:222-227.
Challis BG, Luan J, Keogh J, 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 Obesity. 2004; 28(3): 442-6.
Laudes M, Christodoulides C, Sewter C, Rochford J, Considine R Sethi JK, Vidal-Puig AJ,
O’Rahilly S
Role of the POZ Zinc finger transcription factor FBI-1 in human and murine adipogenesis.
J Biol Chem 2004; 279:11711-8.
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.
PNAS 2004; 101, 13:4695-4700.
Laudes M, Barroso I, Luan J, Soos MA, Yeo G, Meirhaeghe A, Logie L, Vidal-Puig A, Schafer
AJ, Wareham NJ, O'Rahilly S.
Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe
insulin resistance and type 2 diabetes.
Diabetes 2004 Mar; 53(3): 842-6.
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 (* corresponding author)
Science 2004; 304:1325-1328.
Gibson WT, Pissios P, Trombly DJ, Luan J, Keogh J, Wareham NJ, Maratos-Flier E, O’Rahilly
S, Farooqi IS.
11
Melanin-concentrating hormone receptor mutations and human obesity: functional analysis.
Obes Res 2004: 12:743-9.
141)
Savage DB, Soos MA, Powlson A, O’Rahilly S, McFarlane I, Halsall DJ, Barroso I, Thomas
EL, Bell JD, Scobie I, Belchetz PE, Kelly WF, Schafer AJ.
Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in
the LMNA gene.
Diabetologia 2004; 47:753-763
142)
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 Physio Pharmacol 2004; 82:1-4.
143) 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 & congenital generalized lipodystrophy: Baseline
characteristics & course during recombinant leptin therapy.
J Clin Endocrinol & Metab 2004; 89, 7:3199-3207.
144) Bhattacharyya S, Luan J, Farooqi IS, Keogh J, Montague C, Brennand J, Jorde L, Wareham NJ,
O’Rahilly S. Studies of the neuromedin U 2 receptor gene in human obesity: Evidence for the
existence of two ancestral forms of the receptor.
J of Endocrinology 2004; 183, 1:115-20.
*145) Rochford J, Semple R, Laudes M, Boyle K, Chrstodoulides 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/EBPbeta & a regulator of early adipogenesis.
Mol Cell Biol 2004; 24, 22:9863-9872.
146) Coll A, Challis B, Yeo G, Snell K, Pipier S, Halsall D, Thresher R, O’Rahilly S.
The effects of proopiomelanocortin deficiency on murine adrenal development and
responsiveness to adrenocorticotropin.
Endocrinology 2004; 145, 10:4721-4727.
*147) Yeo GSH, Hung C-C C, Rochford J, Keogh J, Gray J, Sivaramakrishnan S., O’Rahilly S*,
Farooqi IS. A de novo mutation affecting human TrkB associated with severe obesity &
developmental delay.(* corresponding author)
Nature Neuroscience 2004; 7:1187 – 1189.
148) Sarker A, Semple R, Dinneen S, O’Rahilly S, Martin S.
Severe Hypo--lipoproteinemia during treatment with rosiglitazone.
Diabetes Care 2004; 27, 11:2577-2580.
149) Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O’Rahilly S, Trussell RA
Congenital leptin deficiency due to homozygosity for the Delta11G mutation: report of another
case and evaluation of response to four years of leptin therapy.
J Clin Endocrinol Metab 2004; 89, 10:4821-6.
150) Hung CC, Pirie F, Luan J, Lank E, Motala A, Yeo GS, Keogh JM, Wareham NJ, O’Rahilly S,
Farooqi IS
Studies of the peptide YY and neuropeptide Y2 receptor genes in relation to human obesity and
obesity-related traits.
Diabetes 2004; 53, 9:2461-6.
151) 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 & carbohydrate metabolism.
Diabetologia 2004; 47:2168-2175.
*152) 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; 90:1446-52.
12
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 Endo Metab 2005; 90:1849-55.
*154) Semple RK, Meirhaeghe A, Vidal-Puig AJ, Schwabe JWR, Wiggins D, G.F. Gibbons, M.
Gurnell, V.K.K. Chatterjee, S. O’Rahilly.
A dominant negative human PPARalpha is a constitutive transcriptional co-repressor and inhibits
signaling through all PPAR isoforms
Endocrinology 2005; 146:1871-82.
155) 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, Carlto M,. Colledge
W, Kettunen M, Seppänen-Laakso T, Sethi J, O’ Rahilly S, Brindle K, Cinti S, Oresic M,
Burcelin M and, Vidal-Puig A
The link between nutritional status and insulin sensitivity is dependent on the adipocyte-specific
PPAR gamma 2 isoform.
Diabetes 2005; 54:1706-1716.
156) Lelliott CJ, López M, Curtis K, Parker N, Laudes M, Yeo G, 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.
157) Riserus U, Tan GD, Fielding BA, Neville MJ, Currie J, Savage DB, Chatterjee VK, Frayn KN,
O’Rahilly S, Karpe F.
Rosiglitazone increases indexes of stearoyl-CoA desaturase activity in humans: Link to insulin
sensitization & the role of dominant-negative mutation in peroxisome proliferator-activated
receptor gamma.
Diabetes 2005; 54(5):1379-84.
158) JitrapakdeeS, Slawik M, Medina-Gomez G, Campbell M, Wallace JC, Jaswinder S, O’Rahilly S,
Vidal-Puig AJ.
The PPAR regulates murine pyruvate caboxylase gene expression in vivo and in vitro.
J Biol Chem 2005; 280, 29:27466-27476.
*159) Coll AP, Challis BG, Lopez M, Piper S, Yeo G, O’Rahilly S
Proopiomelanocortin-deficient mice are hypersensitive to the adverse metabolic effects of
glucocorticoids.
Diabetes 2005; 54:2269-2276.
160) 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 independent of obesity.
Obesity Research 2005; 13,8:1476-1484.
161) Franks P, Luan J, I Barroso, Brage S, Gonzalez Sanchez JL, Ekelund U, Serrono Rios M, Schafer
A, O’Rahilly S, Wareham N
Variation in the eNOS gene modifies the association between total energy expenditure & glucose
intolerance.
Diabetes 2005; 54:2795-2801.
162) Zeggini E, Groves CJ, Parkinson JR, Halford S, Owen KR, Frayling TM, Walker M, Hitman G
A, Leve 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, 10:2013-7.
163) Farooqi IS, O’Rahily S
New advances in the genetics of early onset obesity.
Int J Obes 2005; 29, 10:1149-52.
164) Jensen J, Jebens E, Brennesvik EO, Ruzzin J, Soos MA, Engebretsen EM, O’Rahilly S,
Whitehead JP
153)
13
Muscle glycogen inharmoniously regulates glycogen synthase activity, glucose uptake and
proximal insulin signalling.
Am J Physiol Endocrinol Metab 2006; 290, 1:E154-62.
*165) Lee Y.S., Challis B.G., Thompson D.A., Yeo G.S.H., Keogh J.M., Madonna M.E., Wraight V.,
Sims M., Vatin V., Meyre D., Shield J., Burren C., Ibrahim Z., Cheetham T., Swift P.,
Blackwood A., Hung C.C., Wareham N.J., Froguel P., Millhauser G.L., O’Rahilly S*. and
Farooqi I.S.
A POMC Variant Implicates ß-Melanocyte Stimulating Hormone in the Control of Human
Energy Balance.
Cell Metabolism 2006; 3, 2:135-40. (* corresponding author)
166) Christoudoulides C, Scarda A, Granzotto M, Milan G, Dalla Nora E, Keogh J, De Pergola G,
Stirling H, Pannacciulli N, Sethi JK, Federspil G, Vidal-Puig A, Farooqi IS, O’Rahilly S,
Vettor R.
WNT10B mutations in human obesity.
Diabetologia 2006; 49, 4:678-684.
167) Bhattacharyya S, Luan J, Challis B, Keogh J, Montague C, Brennand J, Morten J, Lowebein S,
Jenkins S Farooqi, Wareham NJ, O’Rahilly S.
Sequence variants in the melatonin-related receptor (GPR50) gene associate with circulating
triglyceride and HDL levels.
J Lipid Res 2006; 47(4):761-6.
168) Barroso I, Luan J, Sandhu MS, Franks PW, Crowley V, Schafer AJ, O’Rahilly S, Wareham NJ.
Meta-analysis of the GKY482Ser variant in PPARGC1A in type 2 diabetes and related
phenotypes.
Diabetologia 2006; 49, 3:501-5.
169) Tuthill A, Slawik H, O’Rahilly S, Finer N
Psychiatric co-morbidities in patients attending specialist obesity cervices in the UK.
QJM 2006; 99(5):317-25
170) Lopez M, Lelliott CJ, Tovar S, Kimber W, Gallego R, Virtue S, Bount 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 & accumulation of malonyl-CoA.
Diabetes 2006; 55(5):1327-36.
171) Gray J, Yeo G, Hung C, Keogh J, Clayton P, Banerjee K, McAulay A, O’Rahilly S, Farooqi IS
Functional characterization of human NTRK2 mutations identified in patients with severe earlyonset obesity.
Int J Obes 2006; 31(2):359-64.
*172) Semple R, Soos M, Luan J, Mitchell C, Wilson J, Gurnell M, Cochran E, Corden P, Chatterjee
VK, Wareham N, O’Rahilly S
Elevated plasma adiponectin in humans with genetically defective insulin receptors.
J Clin Endocrinol Metab 2006; 91(8):3219-3223.
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 & evaluation of GAD2 as
a positional candidate.
Diabetes 2006; 55(6):1884-9
174) Christodoulides C, Laudes M, Cawthorn W, Schinner S, Soos M, O’Rahilly S, Sethi J, VidalPuig A.
The Wnt antogonist Dickkopf-1 & its receptors are coordinately regulated during early human
adipogenesis.
J Cell Sci 2006; 119:2613-20
175) Coll A, Fassnacht M, Klammer S, Hahner S, Schulte D, Piper S, Tung YC, Challis B, 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 & weight but does not affect adrenal growth or corticosterone production.
14
176)
177)
178)
179)
180)
181)
182)
183)
184)
185)
186)
187)
J Endocrinol 2006; 190(2):515-525
Hung C, Luan J, Sims M, Keogh J, Hall C, Wareham N, O’Rahilly S, Farooqi S
Studies of the SIM1 gene in relation to human obesity & obesity-related traits.
Int J Obes 2006;31(3):429-34.
Alharbi KK, Spankis E, Tan K, Smith MJ, Aldamesh MA, O’Dell SD, Sayer AA, Lawlor DA,
Ebrahim S, Smith GD, O’Rahilly S, Farooqi S, Cooper C, Phillips DIW, Day INM
Prevalence & functionality of paucipmorphic & private MC4R mutations in a large, unselected
European British population, scanned by meltMADGE.
Human Mutation 2006; 28(3):294-302
Agostini M, Schoenmakers E, Mitchell, Szatmari I, Savage D, Smith A, Rajanayagam O, Semple
R, Luan J, Bath L, Zalin A, Labib M, Kumar S, Simpson H, Blom D, Marais D, Schwabe J,
Barroso I, Trembath R, Wareham N, Nagy L, Gurnell M, O’Rahilly S, Chatterjee K.
Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic
insulin resistance.
Cell Metab 2006; 4:303-311.
Farooqi S, Drop S, Clements A, Keogh J, Biernacka J, Lowenbein S, Challis B, O’Rahilly S.
Heterozygosity for a POMC-null mutation and increased obesity risk in humans.
Diabetes 2006; 55(9):2549-53.
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 & body weight in POMC null mice.
Endocrinology 2006; 147(12):5940-5947.
Cai G, Coles S, Butte N, Bacino C, Diego V, Tan K, Goring H, O’Rahilly S, Farooqi S,
Comuzzie A
A quantitative trait locus on chromosome 18q for physical activity and dietary intake in Hispanic
children.
Obesity 2006; 14(9):1596-604.
Gray S, Dalla Nora E, Gosse J, Manien M, Stoeger T, Medina-Gomez G, Burling K, Wattler S,
Russ A, Yeo G, Chatterjee VK, O’Rahilly S, Voshol P, Cinti S, Vidal-Puig A.
Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated
receptor gamma function (P465L PPARgamma) in mice.
Diabetes 2006; 55(10):2669-77.
Fawcett K, Wareham N, 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 the UK populations.
Diabetologia 2006; 49(11):2649-52.
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(11):2642-8.
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 & thermogenic capacity in mice with impaired
peroxisome proliferator-activated receptor (P465L PPARgamma) function.
Endocrinology 2006; 147(12):5708-5714.
Gray J, Yeo G, cox J, Morton J, Adlam A-L, Keogh j, Yanovski J, El Gharbawy A, Han J, Tung
L, Hodges J. Raymond L, O’Rahilly S, Farooqi S.
Hyperphagia, severe obesity, impaired cognitive function & hyperactivity associated with
functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene.
Diabetes 2006; 55:3366-3371.
Topaloglu AK, Lu Zl, Farooqi IS, Mungan NO, Yuksel B, O’Rahilly S, Miller RP
Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish
population: Identification & detailed functional characterization of a novel mutation in the
gonadotropin-releasing hormone receptor gene.
Neuroendocrinology 2006; 84(5):301-8.
15
*188) Farooqi S, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh J, 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 & molecular genetic spectrum of congenital leptin receptor deficiency of the leptin
receptor.
New Engl J Med 2007; 356 (3):237-47.
189) 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 RabsonMendenhall syndrome.
Clin Endocrinol 2007; 66(1):21-6.
190) Farooqi IS, O’Rahilly S
Is leptin an important physiological regulator of CRP?
Nat Med 2007; 13(1):16-17.
191) 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; 50,3:569-73.
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 & association
studies for type 2 diabetes & metabolic traits in UK populations.
Diabetologia 2007; 50(3):555-62.
193) Loos RJ, Barroso I, O’Rahilly S, Wareham NJ
Comment on “A common genetic variant is associated with adult & childhood obesity”.
Science 2007; 315(5809): 187.
194) 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
& worsening insulin resistance independently of adiposity.
J Appl Physiol 2007; 102, 5:1921-6.
*195) Semple RK, Halberg NH, Burling K, Soos MA, Schraw T, Luan J, Cochran EK, Dunger DB,
Wareham NH, 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; 56,6:1712-7.
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-beta in severe insulin resistance, lipodystrophy, type
2 diabetes, and related metabolic phenotypes.
Diabetes. 2007; 56(3):714-9.
197) Aerts JM, Ottenhoff R, Powlson AS, Grefhorst A, van Eijk M, Dubbelhuis PF, Kuipers F, Serlie
MJ, Wennekes T, Overkleeft HS, Sethi JK, O'rahilly S.
Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity.
Diabetes 2007; 56,5:1341-9.
198) 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 Mar; 56(3):884-9.
199) Young EH, Wareham NJ, Farooqi S, Hinney A, Hebebrand J, Scherag A, O'Rahilly S, Barroso
I, Sandhu MS.
The V103I polymorphism of the MC4R gene and obesity: population based studies and metaanalysis of 29 563 individuals.
Int J Obes (Lond). 2007; 31(9):1437-41.
200) Coelho R, Wells J, Symth J, Semple R, 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 Mar 21;68(2):91-98.
16
201)
202)
*203)
204)
*205)
*206)
207)
*208)
209)
210)
211)
*212)
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(6):2201-4.
Halsall DJ, Mangi M, Soos M, Fahie-Wilson MN, Wark G, Mainwaring-Burton R, O'Rahilly S.
Hypoglycemia due to an insulin binding antibody in a patient with an IgA-{kappa} myeloma.
J Clin Endocrinol Metab. 2007; 92(6):2013-6.
Loos RJ, Franks PW, Francis RW, Barroso I, Gribble FM, Savage DB, Ong KK, O'Rahilly S,
Wareham NJ.
TCF7L2 polymorphisms modulate proinsulin levels and {beta}-cell function in a British Europid
population.
Diabetes. 2007; 56(7):1943-7.
Michailidou Z, Coll AP, Kenyon CJ, Morton NM, O’Rahilly S, Deckl JR, Chapman KE
Peripheral mechanisms contributing to the glucocorticoid hypersensitivity in
proopiomelanocortin null mice treated with corticosterone.
J of Endocrinology 2007; 194:161-170.
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/EBPbeta and C/EBPalpha during adipogenesis.
J Biol Chem. 2007; 282(29):21005-14. (* corresponding author)
Nogueiras R, Wiedmer P, Perez-Tilve D, Veyrat-Durebex C, Keogh JM, Sutton GM, Pfluger PT,
Castaneda TR, Neschen S, Hofmann SM, Howles PN, Morgan DA, Benoit SC, Szanto I, Schrott
B, Schurmann A, Joost HG, Hammond C, Hui DY, Woods SC, Rahmouni K, Butler AA, Farooqi
IS, O'Rahilly S, Rohner-Jeanrenaud F, Tschop MH.
he central melanocortin system directly controls peripheral lipid metabolism.
J Clin Invest. 2007; 117(11):3475-88.
Tung YC, Rimmington D, O'Rahilly S, Coll AP.
Pro-opiomelanocortin (POMC) modulates the thermogenic and physical activity responses to
high fat feeding and markedly influences dietary fat preference.
Endocrinology 2007; 148 (11):5331-5338.
Farooqi IS, Bullmore E, Keogh J, Gillard J, O'Rahilly S, Fletcher PC.
Leptin regulates striatal regions and human eating behaviour.
Science. 2007 Sep 7;317(5843):1355.
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 alpha-melanocyte-stimulating hormone.
J Neuroendocrinol. 2007;19(9):703-7.
Heisler LK, Pronchuk N, Nonogaki K, Zhou L, Raber J, Tung L, Yeo GS, O'Rahilly S, Colmers
WF, Elmquist JK, Tecott LH.
Serotonin activates the hypothalamic-pituitary-adrenal axis via serotonin 2C receptor
stimulation.
J Neurosci. 2007; 27(26):6956-64.
Farooqi IS, Volders K, Stanhope R, Heuschkel R, White A, Lank E, Keogh J, O'Rahilly S,
Creemers JW.
Hyperphagia and Early-Onset Obesity due to a Novel Homozygous Missense Mutation in
Prohormone Convertase 1/3.
J Clin Endocrinol Metab. 2007; 92(9):3369-3373
Gerken T, Girard CA, Tung YC, Webby CJ, Saudek V, Hewitson KS, Yeo GS, McDonough
MA, Cunliffe S, McNeill LA, Galvanovskis J, Rorsman P, Robins P, Prieur X, Coll AP, Ma M,
Jovanovic Z, Farooqi IS, Sedgwick B, Barroso I, Lindahl T, Ponting CP, Ashcroft FM,
O'Rahilly S, Schofield CJ.
The Obesity-associated FTO gene encodes a 2-oxoglutarte dependent nucleic acid demethylase.
17
Science 2007; 318(5855):1469-72(* corresponding author)
Coll AP, Farooqi IS, Challis BG, Yeo G, O’Rahilly S
Proopiomelanocortin & energy balance: insights from human & murine genetics.
J Clin Endocrinol Metab 2007; 89(6):2557-2562.
*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, 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 & reduces muscle glycogen content
in humans & mice.
PLoS Medicine 2008; 5(1):e27 (* 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 Apr;93(4):1129-34. Epub 2008 Jan 22.
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 May;31(5):977-9. Epub 2008 Feb 25.
*217) Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM,
Attwood AP, Beckmann JS, Berndt SI; Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer
Screening Trial, Jacobs KB, Chanock SJ, Hayes RB, Bergmann S, Bennett AJ, Bingham SA,
Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Smith GD, Day I, Dina C, De S,
Dermitzakis ET, Doney AS, Elliott KS, Elliott P, Evans DM, Sadaf Farooqi I, Froguel P, Ghori
J, Groves CJ, Gwilliam R, Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid IM; KORA,
Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE, Herrera B, Hinney A, Hunt SE,
Jarvelin MR, Johnson T, Jolley JD, Karpe F, Keniry A, Khaw KT, Luben RN, Mangino M,
Marchini J, McArdle WL, McGinnis R, Meyre D, Munroe PB, Morris AD, Ness AR, Neville
MJ, Nica AC, Ong KK, O'Rahilly S, Owen KR, Palmer CN, Papadakis K, Potter S, Pouta A, Qi
L; Nurses' Health Study, Randall JC, Rayner NW, Ring SM, Sandhu MS, Scherag A, Sims MA,
Song K, Soranzo N, Speliotes EK; Diabetes Genetics Initiative, Syddall HE, Teichmann SA,
Timpson NJ, Tobias JH, Uda M; SardiNIA Study, Vogel CI, Wallace C, Waterworth DM,
Weedon MN; Wellcome Trust Case Control Consortium, Willer CJ; FUSION, Wraight, Yuan X,
Zeggini E, Hirschhorn JN, Strachan DP, Ouwehand WH, Caulfield MJ, Samani NJ, Frayling
TM, Vollenweider P, Waeber G, Mooser V, Deloukas P, McCarthy MI, Wareham NJ, Barroso I,
Jacobs KB, Chanock SJ, Hayes RB, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE,
Kraft P, Hankinson SE, Hunter DJ, Hu FB, Lyon HN, Voight BF, Ridderstrale M, Groop L,
Scheet P, Sanna S, Abecasis GR, Albai G, Nagaraja R, Schlessinger D, Jackson AU, Tuomilehto
J, Collins FS, Boehnke M, Mohlke KL.
Common variants near MC4R are associated with fat mass, weight and risk of obesity.
Nat Genet. 2008 Jun; 40(6):768-75. Epub 2008 May 4.
218) Payne VA, Grimsey N, Tuthill A, Virtue S, Gray SL, Nora ED, Semple RK, O'Rahilly S,
Rochford JJ.
The Human Lipodystrophy Gene BSCL2/Seipin May Be Essential For Normal Adipocyte
Differentiation.
Diabetes. 2008; 57(8):2055-60.
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
of 13,949 individuals.
J Appl Physiol. 2008;105(4):1352-8.
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
213)
18
Lam DD, Przydzial MJ, Ridley SH, Yeo G, Rochford JJ, O’Rahilly S, Heisler LK.
Serotonin 5-HT2C receptor agonist promotes hypophagia via downstream activation of
melanocortin 4 receptors.
Endocrinology 2008, 149(3):1323-1328
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)delta promotes reversal of
multiple metabolic abnormalities, reduces oxidative stress, and increases fatty acid oxidation in
moderately obese men.
Diabetes 2008, 57(2): 332-339
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 European population and their age-dependant penetrance in
multi-generational pedigrees.
Diabetes 2008; 57(9):2511-8.
*224) Wardle J, Carnell S, Haworth CM, Farooqi IS, O’Rahilly S, Plomin R.
Obesity associated genetic variation in FTO associated with diminished satiety.
J Clin Endocrinolog Metab 2008; 93(9):3640-3.
225) Fawcett KA, Grimsey N, Loos RJ, Wheeler E, Daly A, Soos M, Semple R, Syddall H, Cooper C,
Siniossoglou S, O’Rahilly S, Wareham NJ, Barroso I
Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human
lipdystrophy in UK populations.
Diabetes 2008; 57(9):2527-33.
*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(12):5432-9..
227) Creemers JW, Lee YS, Oliver RL, Bahceci M, Tuzcu A, Gokalp D, Keogh j, Herber S, White A,
O’Rahilly S, Farooqi IS
Mutations in the N-terminal region of POMC in patients with early-onset obesity impair POMC
sorting to the regulated secretory pathway.
J Clin Endocrinol Metab 2008; 93(11):4494-9.
228) 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 (12):6043-52
229) Tan GD, Savage DB, Fielding BA, Collins J, Hodson L, Humphreys SM, O’Rahilly S,
ChatterjeeK, Frayn KN, Karpe F
Fatty acid metabolism in patients with PPARgamma mutations.
J Clin Endocrinol Metab 2008; 93(11):4462-70.
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(3):347-53.
231) Tung YC, Ma M, Piper S, Coll A, O’Rahilly S, Yeo GS
Novel leptin-regulated genes revealed by transcriptional profiling of the hypothalamic
paraventricular nucleus.
J Neurosci 2008; 28(47):12419-12426.
*232) Greenfield J, Miller J, Keogh J, 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.
New Eng J Med 2009; 360(1):44-52.
221)
19
233)
*234)
*235)
*236)
237)
*238)
239)
Tan K, Pogozheva ID, Yeo GS, Hadaschik D, Keogh JM, Haskell-Leuvano C, O’Rahilly S,
Mosberg HI, Farooqi IS
Functional characterization and structural modelling of obesity-associated mutation in the
melanocortin-4 receptor.
Endocrinology 2009; 150(1):114-25.
Savage DB, Semple RK, Clatworthy MR, Lyons PA, Morgan BP, Cochran EK, Gorden P,
Raymond-Barker P, Murgatroyd PR, Adams C, Scobie I, Mufti GJ, Alexander GJ, Thiru S,
Murano I, Cinti S, Chaudhry AN, Smith KG, O’Rahilly S
Complement abnormalities in acquired lipodytrophy revisited.
J Clin Endocrinol Metab 2009; 94(1):10-6.
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 & TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for
Neurokinin B in the central control of reproduction.
Nat Genet 2009; 41(3):354-8.(* corresponding authors)
The GIANT consortium
Six new loci associated with body mass index highlight a neuronal influence on body weight
regulation.
Nat Genet 2009; 41(1):25-34
Greenfield J, Tuthill A, Soos M, Semple R, Halsall D, Chaudhry A, O’Rahilly S
Severe insulin resistance due to anti-insulin antibodies: response to plasma exchange &
immunosuppressive therapy.
Diabetic Medicine 2009; 26 (1):79-82.
Semple R, Sleigh A, Murgatropd P, Adams C, Bluck L, Jackson S, Vottero A, Kanabar D,
Charlton-Menys V, Durrington P, Soos M, Carpenter T, Lomas D, Cochran E, Gorden P,
O’Rahilly S, Savage D.
Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.
J Clin Invest 2009; 119(2):315-22.
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(5):782-9.
20
240)
241)
*242)
*243)
*244)
*245)
246)
247)
248)
249)
*250)
Bottomley WE, Soos M, Adams C, Guran T, Howlett T, Mackie A, Miell J, Monson J, Temple
R, Tenenbaum-Rakover Y, Tymms J, Savage DB, Semple R, O’Rahilly S, Barroso I.
IRS2 variants & syndromes of severe insulin resistance.
Diabetologia 2009; 52(6):1208-11.
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(6):533-41.
Dash S, Sano H, RochfordJ, Semple R, Yeo G, Hyden C, Soos M, Clark J, Rodin A, Langenberg
C, Druet C, Fawcett K, Tung YC, Wareham NJ, Barroso I, Lienhard G, O’Rahilly S, Savage D.
A truncation mutation in TBC1D4 in a family with acanthosis nigricans and post prandial
hypertension.
Proc Natl Acad Sci USA 2009; 106(23):9350-5.
de Smith A, Purmann C, Walters R, Ellis R, Holder S, van Haeist M, Brady A, Fairbrother U,
Dattani M, Keogh J, Henning E, Yeo G, 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(17):3257-65.
Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple R, Dash S, Hyden C, Bottomley W,
Vigouroux C, Magre J, Rayomond-Barker P, Murgatroyd P, Chawla A, Skepper J, Chatterjee K,
Suliman S, LD Screening Consortium, Patch A-M, Agarwal A, Garg A, Barroso I, Cinti S,
Czech M, Argente J, O’Rahilly S, Savage D.
Partial lipodystrophy & insulin resistant diabetes in a patient with a homozygous nonsense
mutation in CIDEC.
EMBO Molecular Medicine 2009; 1(5):280-287.
Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo G. Meyre D, Golzio C,
Molinari F, Kadhom N, Etchevers H, Saudek V, Farooqi IS, Froguel P, Lindahl T, O’Rahilly,
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(1):106-11.
Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble F, Kotan L, Akcay T, Atay
Z, Canan Y, Serin A, O’Rahilly S, Reimann F, Semple R, 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(10):3633-9.
Finucane F, Luan J, Wareham N, Sharp S, O’Rahilly S, Balkau B, Flyvbjerg A, Walker M,
Hojlund K, Nolan J (on behalf of the European gp for the Study of Insulin Resistance:
Relationship between insulin sensitivity & cardiovascular disease risk study gp), Savage DB.
Correlation of the leptin adiponectin ratio with measures on insulin resistance in non-diabetic
individuals.
Diabetologia 2009; 52(11):2345-9.
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 2010; 425(1):215-23.
Meyre D, Proulx K Kawagoe-Takaki H, Vatin V, Gutierrez-Aguilar R, Lyn D, Ma M, Choquet
H, Horber F, Van Hui W, Van Gaal L Balkau B, Viskis-Siest S, Pattou F, Farooqi IS, Saudek V,
O’Rahilly S, Froguel P, Sedgwick B, Yeo G.
Prevalence of loss-of-function FTO mutations in lean and obese individuals.
Diabetes 2010; 59 (1):311-8.
Buchukova E, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, HamiltonShield J, Clayton-Smith J, O’Rahilly S, Hurles M, Farooqi IS.
21
Large, rare chromosomal deletions associated with severe early-onset obesity.
Nature 2010; 463(7281):666-70.
*251) Richards J, Waterworth D, O’Rahilly S, Hivert M, Loos R, Perry J, Tanaka T et al
A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.
PLoS Genet 2009; 5(12):e1000768.
252) Figueroa KP, Farooqi S, 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(12):e8280.
253) Corander M, Challis B, Thompson E, Jovanovic Z, Tung L, Rimmington D, Huhtaniemi I,
Murphy K, Kemal Topaloglu A, Yeo G, O’Rahilly S, Dhillo W, Semple R, Coll A.
The effects of neurokinin B (NKB) upon gonadotrophin release in male rodents.
J Neuroendocrinol 2010 Mar;22(3):181-7.
254) Romeo S, Sentinelli F, Dash S, Yeo G, Savage DB, Leonetti F, Capoccia D, Incani M, Maglio C,
Lacovino M, O’Rahilly S, Baroni MG
Morbid obesity exposes the association between PNPLA3l148M (rs738409) & indices of hepatic
injury in individuals of European descent.
Int J Obes 2010; 34(1):190-4.
*255) Walters RG, Jacquemont S, Valsesia A, de Smith A, Martinet D, Andersson J et al
A new highly penetrant form of obesity due to microdeletions on chromosome 16p11.2.
Nature 2010 Feb 4;463(7281):671-5.
256) Regan, F, Willaims R, Mcdonald A, Umpleby M, Acerini C, O’Rahilly S, Hovorka R, Semple
R, 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(5):2113-22.
257) Tung YC, Ayuso E, Shan X, Bosch F, O’Rahilly S, Coll A, Yeo GS
Hypothalamic-specific manipulation of Fto, the ortholog of the human obesity gene FTO, affects
food intake in rats.
PloS One, 2010; 5(1):e8771
258) Dash S, Langenberg C, Fawcett K, Semple R, Romeo S, Sharp S, Sano H, Lienhard G,
Rochford J, Holett T, massoud A, Hindmarsh P, Howell S, Wilkinson R, Lyssenko V, Groop L,
Baroni M, Barroso I, Wareham N, O’Rahilly S, Savage D.
Analysis of TBC1D4 in patients with severe insulin resistance.
Diabetologia 2010; 53(6):1239-42.
259) Tschop J, Nogueiras R, Haas-Lockie S, Kasten K, Castafieda T, Huber N, Guanaciale K, PerezTilve D, Habegger K, Ottaway N, Woods S, Oldfield B, Clarke I, Chua S, Farooqi S, O’Rahilly
S, Caldwell C, Tschop M
CNS leptin action modulates immune response and survival in sepsis.
J Neurosci 2010; 30(17):6036-47. PMID 20427662.
260) Kirk J, Porter K, Parker V, Barroso I, O’Rahilly S, Hendriksz C, Semple R
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; Jun 3 Epub. PMID 20521171.
261) Jovanovic Z, Tung L, Lam B, O’Rahilly S, Yeo G
Identification of the global transcriptomic response of the hypothalamic arcuate nucleus to
fasting and leptin.
J Neuroendocrinol 2010; 22(8):915-25. PMID 20553370.
262) Napolitano A, Murgatroyd P, Finer N, Hussey E, Dobbins R, O’Rahilly S, Nunez D.
Assessment of acute & chronic pharmacological effects on energy expenditure & macronutrient
oxidation in humans: responses in ephedrine.
J Obes 2011; 2011.pii: 210484. PMID 20847897.
*263) Speliotes E, Willer C, Berndt S et al
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
22
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Nat Genet; 2010; 42(11):937-48. PMID 20935630.
Fletcher P, Napolitano A, Skeggs A, Miller S, Delafont B, Cambridge V, de Wit S, Nathan P,
Brooke A, O’Rahilly S, Farooqi S, Bullmore E
Distinct modulatory effects of satiety & sibutramine on brain responses to food images in
humans: a double dissociation across hypothalamus, amygdala & ventral striatum.
J Neurosci 2010; 30(43):14346-55. PMID 20980590.
Martinelli C, Keogh J, Greenfield J, Henning E, van der Klaauw A, Blackwood A, O’Rahilly S,
Roelfsema F, Camacho-Hubner C, Pijl H, Farooqi S.
Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear
growth & final height, fasting hyperinsulinemia & incompletely suppressed growth hormone
secretion.
J Clin Endocrinol Metab 2011; 96(1):E181-8. PMID 21047921
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 & tissue macrophages modulates macrophage
liptoxicity & M2/M1 polarization in obese mice.
Diabetes 2011; 60(3):797-809. PMID 21266330.
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 R, Majewski Osteodysplastic
Primordial Dwarfism Study Group.
Genetic defects in human pericentrin are associated with severe insulin resistance & diabetes.
Diabetes 2011; 60(3):925-35. PMID 21270239.
*268) Gandotra S, Le Dour C, Bottomley W, Cervera P, Giral P, Reznik Y, Guillaume Charpentier G,
Auclair M, Delépine M, Barroso I, Semple R, Lathrop M, Lascols O, Capeau J, O’Rahilly S,
Magré J, Savage D, Vigouroux C.
Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy
New Eng J Med 2011; 364(8):740-8. PMID 321345103.
269) Nica AC, Parts L, Glass D, Nisbet J, Barrett A, Sekowska M, Travers M, Potter S, Grundberg E,
Small K, Hedman A, Bataille V, Tzenova Bell J, Surdulescu G, Dimas A, Ingle C, Nestle F, di
Meglio P, Min J, Wilk A, Hammond C, Hassanali N, Yang T, Montgomery S, O’Rahilly S,
Lindgren C, Zondervan K, Soranzo N, Barroso I, Durbin R, Ahmadi K, Deloukas P, McCarthy
M, Dermitzakis E, Spector T, MuTHER consortium
The architecture of gene regulatory variation across multiple human tissues: the MuTHER study.
PloS Genet 2011; 7(2):e1002003. PMID 21304890.
270) Raffan E, Soos M, Rocha N, Tuthill A, Thomsen A, Hyden C, Gregory J, Hindmarsh P, Dattani
M, Cochran E, Al Kaabi J, Gorden P, Barroso, Morling N, O’Rahilly S, Semple R
Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor
recycling.
Diabetologia 2011, 54(5):1057-65. PMID 21318406.
271) Corander M, Rimmington D, Challis B, O’Rahilly S, Coll A
Loss of Agouti-related peptide does not significantly impact the phenotype of murine POMC
deficiency.
Endocrinology 2011; 152(5):1819-28. PMID 21363936.
272) O’Rahilly S.
Translating metabolic biochemistry into the clinic: an interview with Steve O’Rahilly. Interview
by Kathy Weston.
Dis Model Mech. 2011;4(2)141-4. doi: 10.1242/dmm.007641. PMID 21357759.
273) Speliotes E, Yerges-Armsrong L, Wu J, Hernaez R, Kim L, Palmer C Gudnason V, Eiriksdottir
G, Garcia M, Launer L, Nalls M, Clark J, Mitchell B, Shuldiner A, butler J, Tomas M, Hoffmann
U, Hwang S, Massaro J, O’Donnell C, Sahani D, SalomaaV, Schadt E, Schwartz S, Siscovick D,
NASH CRN, GIANT consortium, MAGIC investigators, Voight B, Carr J, Feitosa M, Harris T,
Fox C, Smith A, Kao W, Hirschhorn J, Borecki I, GOLD Consortium.
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Genome-wide association analysis identifies variants associated with non-alcoholic fatty liver
disease that have distinct effects on metabolic traits.
PLoS Genet 2011; 7(3):e1001324. PMID 21423719
Sleigh A, Raymond-Barker P, Thackray K, Porter D, Hatunic M, Vottero A, Burren C, Mitchell
C, McIntyre M, Brage S, Carpenter A, Murgatroyd P, Brindle K, Kemp G, O’Rahilly S, Semple
R, Savage D.
Mitochondrial dysfunction in patients with primary congenital insulin resistance.
J Clin Invest 2011; 121(6):2457-61. PMID 21555852
Kilpelainen T, Zillikens M, Stancakova A, et al
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
Nat Genet 2011; 43(8):753-60. PMID 21706003.
Gandotra S, Lim K, Girousse A, Saudek V, O’Rahilly S, Savage D
Human frameshift 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(40):34998-5006. PMID 21757733.
Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J,
Smillie BJL, 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(6055):474. [*=co-corresponding] PMID 21979934.
Lowe C, Dennis R, Obi U, O’Rahilly S, Rochford J
Investigating the involvement of the ATF6α pathway of the unfolded protein response in
adipogenesis.
Int J Obes 2011; Nov 29, doi:101038/ijo.2011.233. PMID 22124452.
Strawbridge R, Dupuis J, Prokopenk I et al
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; 10:2624-34. PMID 21873549.
Cho YS, Chen CH, Hu C et al.
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in
East Asians.
Nat Genet 2011; 44(1): 67-72. PMID 22158537.
Sleigh A, Stears A, Thackray K, Watson L, Gambineri A, Nag S, Campi VI, Schoenmakers N,
Brage S, Carpenter TA, Murgatroyd P, O’Rahilly S, Kemp G, Savage D.
Mitochodrial oxidative phosphorylation is impaired in patients with congenital lipodystrophy.
J Clin Endocrinol Metab 2012; 97(3):E438-42. PMID 22238385.
Ma M, Harding H, O’Rahilly S, Ron D, Yeo G
Kinetic analysis of FTO (Fat mass and obesity related) reveals that it is unlikely to function as a
sensor for 2-oxoglutarate.
Biochem J 2012; 444(2):183-7. PMID 22435707.
Bradfield J, Taal H, Timpson N, Scherag A, Lecoeur C, Warrington N et al
A genome-wide association meta-analysis identifies new childhood obesity loci.
Nat Genet 2012; 44(5):526-31. PMID 22484627.
Bell JT, Tsai PC Yang TP, Pidsley R, MuTHER Consortium et al
Epigenome-wide scans identify differentially methylated regions for age and age-related
phenotypes in a healthy ageing population.
PLoS Genet 2012; 8(4):e1002629. PMID 22532803.
Cheung MK, Gulati P, O’Rahilly S, Yeo GS
FTO expression is regulated by availability of essential amino acids.
Int J Obes 2013; 37(5):744-7. PMID 22614055.
Lindhurst M, Parker V, Payne F, Sapp J, Rudge S, Harris J et al
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in
PIK3CA.
Nat Genet 2012; 44(8):928-33. PMID 22729222.
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Speakman JR, O’Rahilly, S.
Fat: an evolving issue.
Dis Model Mech 2012; 5(5):569-73. PMID 22915015.
Grundberg E, Small KS, Hedman AK, Nica AC, Buil A, Keildson S, Bell JT, Yang TP, Meduri
E, Barrett A, Nisbett J, Sekowska M, Wilk A, Shin SY, Glass D, Travers M, Min JL, Ring S, Ho
K, Thorleifsson G, Kong A, Thorsteindottir U, Ainali C, Dimas AS, Hassanali N, Ingle C,
Knowles D, Krestyaninova M, Lowe CE, Di Meglio P, Montgomery SB, Parts L, Potter S,
Surdulescu G, Tsaprouni L, Tsoka S, Bataille V, Durbin R, Nestle FO, O'Rahilly S, Soranzo N,
Lindgren CM, Zondervan KT, Ahmadi KR, Schadt EE, Stefansson K, Smith GD, McCarthy MI,
Deloukas P, Dermitzakis ET, Spector TD; The Multiple Tissue Human Expression Resource
(MuTHER) Consortium.
Mapping cis- and trans-regulatory effects across multiple tissues in twins.
Nat Genet 2012; 44(10):1084-89. PMID 22941192.
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(3):211-7. PMID 22969777.
Rutter MK, Sattar N, Tajar A, O'Neill TW, Lee DM, Bartfai G, Boonen S, Casanueva FF, Finn
JD, Forti G, Giwercman A, Han TS, Huhtaniemi I, Kula K, Lean M, Pendleton N, Punab M,
Silman AJ, Vanderschueren D, Lowe GD, O'Rahilly S, Morris R, Wu FC, Wannamethee SG.
Epidemiological evidence against a role for C-reactive protein causing leptin resistance.
Eur J Endocrinol 2012 (epub ahead of print). PMID 23047304.
Ziauddeen H, Chamberlain SR, Nathan PJ, Koch A, Maltby K, Bush M, Tao WX, Napolitano A,
Skeggs AL, Brooke AC, Cheke L, Clayton NS, Sadaf Farooqi I, O'Rahilly S, Waterworth D,
Song K, Hosking L, Richards DB, Fletcher PC, Bullmore ET.
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. 2012 Nov 13. doi: 10.1038/mp.2012.154. (epub ahead of print). PMID:
23147384.
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 Dec 3;122(12):4732-6. doi: 10.1172/JCI62696. Epub 2012 Nov 19.
PMID: 23160192.
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 Dec 26;2(1):38-46. doi: 10.1016/j.molmet.2012.11.002. PMID: 24024128
McMurray F, Church CD, Larder R, Nicholson G, Wells S, Teboul L, Tung YC, Rimmington D,
Bosch F, Jimenez V, Yeo GS, O'Rahilly S, Ashcroft FM, Coll AP, Cox RD.
Adult onset global loss of the fto gene alters body composition and metabolism in the mouse.
PLoS Genet. 2013 Jan;9(1):e1003166. doi: 10.1371/journal.pgen.1003166. Epub 2013 Jan 3.
PMID: 23300482.
Gulati P, Cheung MK, Antrobus R, Church CD, Harding HP, Tung YC, Rimmington D, Ma M,
Ron D, Lehner PJ, Ashcroft FM, Cox RD, Coll AP, O'Rahilly S, Yeo GS.
Role for the obesity-related FTO gene in the cellular sensing of amino acids.
Proc Natl Acad Sci U S A 2013; 110(7):2557-2562. PMID: 23359686.
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. PMID: 23430550.
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.
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Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated
with severe early-onset obesity.
Nat Genet 2013 Apr 7 (epub ahead of print). PMID: 23563609. doi: 10.1038/ng.2607.
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-alpha from skeletal muscle and
bone marrow results in cachexia and anemia.
J Exp Med 2013 May 27 (epub ahead of print). PMID: 23712428. doi: 10.1084/jem.20122344.
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) Jan 2013. doi: 10.1002/oby.20297. PMID: 23703849.
Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker
J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld
N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC,
Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC,
Kayserili H, Scambler PJ, Beales PL; UK10K, Knoers NV, Roepman R, Mitchison HM.
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 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1.
PMID: 23456818.
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 Jul 19;341(6143):275-8. doi: 10.1126/science.1233000. Erratum in: Science.
2013 Aug 30;341(6149):959. PMID: 23869016.
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 Sep-Oct;110(1-2):191-4. doi: 10.1016/j.ymgme.2013.04.005. Epub
2013 Apr 17. PMID: 23800642.
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 Jul 1;123(7):3042-50. doi: 10.1172/JCI68016. Epub 2013 Jun 17. PMID:
23778139.
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 Aug;45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16. PMID: 23770608.
O'Rahilly S.
A conversation with Stephen O'Rahilly. Interviewed by Ushma S. Neill.
J Clin Invest. 2013 Jun 3;123(6):2335-6. doi: 10.1172/JCI70726. Epub 2013 Jun 3. PMID:
23722908.
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.
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Diabetologia. 2013 Nov;56(11):2498-506. doi: 10.1007/s00125-013-3029-3. Epub 2013 Aug 30.
PMID: 23989774.
Grundberg E, Meduri E, Sandling JK, Hedman AK, Keildson S, Bull A, Busche S, Yuan W,
Nisbet J, Sekowska M, Wilk A, Barrett A, Small KS, Ge B, Caron M, Shin SY, Multiple Tissue
Human Expression Resource Consortium, Lathrop M, Dermitzakis ET, McCarthy MI, Spector
TD, Bell JT, Deloukas P.
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 Nov;93(5):876-90. doi: 10.1016/j.ajhg.2013.10.004. Epub 2013 Oct 31.
PMID: 24183450.
Evans DM, Brion MJ, Paternoster L, Kemp JP, McMahon G, Munafo M, Whitfield JB, Medland
SE, Montgomery GW, GIANT Consortium; CRP Consortium, TAG Consortium, Timpson NJ, St
Pourcain B, Lawlor DA, Martin NG, Dehghan A, Hirschhorn J, Davey Smith G.
Mining the human phenome using allelic scores that index biological intermediates.
PLoS Genet. 2013 Oct;9(10):e1003919. doi: 10.1371/journal.pgen.1003919. Epub 2013 Oct 31.
PMID: 24204319.
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 Oct 23. doi:pii: S0092-8674(13)01276-2. 10.1016/j.cell.2013.09.058. Epub ahead of
print. PMID: 24209692.
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. PMID: 24496475.
Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R,
Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway
G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van
der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry
CA, Hurles M, Rizzuto R; UK10K Consortium, Duchen MR, Muntoni F, Sheridan E.
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary
alterations in mitochondrial calcium signaling.
Nat Genet. 2014 Feb;46(2):188-93. doi: 10.1038/ng.2851. Epub 2013 Dec 15. PMID: 24336167.
Ding Z, Mangino M, Aviv A, Spector T, Durbin R, UK10K Consortium.
Estimating telomere length from whole genome sequence data.
Nucleic Acids Res. 2014;42(9):e75. doi: 10.1093/nar/gku181. Epub 2014 Mar 7. PMID:
24609383.
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 alpha and beta isoforms
of human SH2B1.
Endocrinology 2014; en20141264. Epub ahead of print. PMID: 24971614
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(24):8901-8906. doi: 10.1073/pnas.1408523111. PMID:
24889630.
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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, jc20141651. doi:10.1210/jc.2014-1651
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 (30); 11133-11138. doi:10.1073/pnas.1411413111.
Payne, F, Colnaghi, R, Rocha, N, Seth, A, Harris, J, Carpenter, G, Bottomley WE, Wheeler E,
Wong S, Saudek V, Savage D, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple R.
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
J Clin Invest 2014. doi:10.1172/JCI73264.
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, D.
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in
patients with familial partial lipodystrophy.
Diabetes 2014. doi:10.2337/db14-0104.
O'Rahilly, S.
20 YEARS OF LEPTIN: What we know and what the future holds.
J Endocrinol 2014. doi:10.1530/JOE-14-0506.
Other Publications (Reviews, Book Chapters, Clinical Case Reports, Letters etc)
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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)
O'Rahilly S, Marcus RE
Fever after intra-thecal methotrexate.
Brit. Med. J. 1984; 289: 84 (clinical case report)
O'Rahilly S, Turner T, Wass JAH
Factitious epilepsy due to amitryptyline abuse.
Ir Med J 1985; 78, 6: 166-167 (clinical case report)
O'Rahilly S
Beta-blockers, blood sugars and thiazides.
Lancet 1985; 1: 515-516 (letter)
O'Rahilly S
Secretion of anti-diuretic hormone in hyponatraemia: not always "inappropriate".
Brit. Med. J. 1985; 290: 1803-1804 (clinical case report)
Turner RC, Holman RR, Matthews DR, O'Rahilly S, Rudenski AS, Braund WJ
Diabetes nomenclature: Classification or grading of severity.
Diabetic Medicine 1986; 3:216-220 (review)
O'Rahilly S, Nugent Z, Rudenski AS, Hosker JP, Turner RC
Beta-cell dysfunction in Type 2 diabetes.
Lancet 1986; II: 629 (letter)
O'Rahilly S, Hosker JP, Matthews DR, Turner RC
Metabolic abnormalities in children of non-insulin dependent diabetics.
Brit. Med. J. 1986; 293: 1437-8 (letter)
O'Rahilly S, Holman RR, Turner RC
MODY in Black Americans.
New Eng J Med. 1987; 317: 381-382 (letter)
O'Rahilly S, Holman RR
Maturity-onset diabetes: Identifying the cause.
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MIMS magazine 1987; 15 March: 23-28 (review)
Turner RC, Rudenski AS, Holman RR, Matthews DR, O'Rahilly S
Quantitative modelling of endocrine diseases as exemplified by diabetes.
Clinical Endocrinology 1987; 26: 107-116 (review)
12) O'Rahilly S
An unusual complication of air travel.
Brit. Med. J. 1987; 28: 107-118 (clinical case report)
13) O'Rahilly S
Secretory failure or insulin resistance: which comes first in NIDDM?
Diabetes News 1988; IX: 1-3 (review).
14) Turner RC, Rudenski AS, Hosker JP, Matthews DR, Levy JC, O'Rahilly S
CIGMA as a tool in the study of NIDDM
in - Pathogenesis and New Approaches to the Study of Non-Insulin-Dependent Diabetes 1988;
Published by Alan Liss; 13-28 (book chapter)
15) 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)
16) Turner RC, Matthews DR, Clark A, O'Rahilly S, Rudenski AS, Levy J
Pathogenesis of NIDDM - A disease of deficient insulin secretion
in - Balliere’s Clinical Endocrinology and Metabolism, vol 2, no 2: 327-342 (1988) eds Nattrass
and Hale; published by Balliere and Tindall: (book chapter)
*17) O'Rahilly S, Wainscoat JS, Turner RC
Type 2 diabetes: New genetics for old nightmares.
Diabetologia 1988: 31: 792-797 (review)
18) O'Rahilly S, Matthews DR, Turner RC
Increased insulin concentrations in nondiabetic offspring of diabetic parents.
New Eng J Med 1989 320: 1282-1283 (letter).
19) 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 & gene products in the development of diabetes mellitus’; eds J Nerup, T MandrupPoulsen, B Hokfelt; published by Elsevier Science (book chapter)
20) 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.
Hormone and Metabolic Research 1990; 24: 66-71 (review)
21) 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; 7,3:63-68 (review)
22) O'Rahilly S, Moller DE
Insulin receptor mutations in syndromes of insulin resistance.
Clinical Endocrinology 1992; 36: 121-132 (review)
23) Moller DE and O'Rahilly S
Severe Insulin Resistance: Clinical and Pathophysiological Features
in Insulin Resistance. Moller DE (ed) . Publs John Wiley New York 1993 pp 50-81 (book chapter)
24) O'Rahilly S
Molecular Aspects of NIDDM
Eye 1993; 50, 7: 214-217 (review)
25) O'Rahilly S
Glucokinase and non-insulin-dependent diabetes.
Clinical Endocrinology 1993; 39: 17-19 (Commentary)
26) O’Rahilly S
Research gives clues to NIDDM causes.
Diabetes Care 1994; 2, 4: 6-7.(review)
27) Gray H and O'Rahilly S
Beta-cell dysfunction in NIDDM
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Transplantation Proceedings 1994; 26: 366-370 (review)
Krook A and O'Rahilly S
Mutant Insulin Receptors in Syndromes of Insulin Resistance
in Balliere's Clinical Endocrinology and Metabolism Transmembrane receptor defects in
endocrine disease: 1995 Vol 10/Number 1 , pp 97-122; eds Shepherd M and Franklyn JA, Balliere
Tindal, London (book chapter)
29) O'Rahilly S, Krook A, Humphreys P and Gray H
Insulin Resistance in Endocrine and Metabolic disorders
in Horizons in Medicine No 6 ed S Holgate, publ. Royal Col. Phys. London/Blackwell Science pp
146-163 (book chapter)
30) Gray H, O'Rahilly S
Towards improved glycaemic control in Diabetes Mellitus: What’s on the Horizon?
Arch Int Med 1995; 155, 11:1137-1142 (review)
31) Shepherd PR, Nave BT, O'Rahilly S (1996)
The Role of Phospho-inositide 3-kinase in insulin signalling
J Mol. Endo 1996; 17,3:175-184 (review)
32) Krook A, O’Rahilly S
Homozygous mutation in the insulin receptor.
Clin Endocrinol 1996; 45,2:237-238 (commentary).
33) O’Rahilly S, Krook A, Humphreys P, Whitehead J
Insights into insulin signalling from naturally-occurring mutations in the insulin signal
transduction pathway.
Quart J Med 1996; 89, N11: 874. (review)
34) Prins JB and O'Rahilly S
Regulation of adipose cell number in man
Clinical Science 1997; 92, 1: 3-11 (review)
*35) O'Rahilly S
Science, Medicine and the Future - Non-insulin-dependent diabetes mellitus: the gathering storm.
Brit Med J 1997; 314, 7085:955-959. (review)
36) Baynes KCR, Whitehead J, Krook A, O’Rahilly S
Molecular mechanisms of inherited insulin resistance.
Q J Med 1997; 90, 9:557-562. (review)
37) O’Rahilly S
Diabetes in midlife: planting genetic time bombs.
Nature Medicine 1997; 3,10:1080-1081.(News and Views)
38) Krook A, Humphreys PJ, O’Rahilly S
“Molecular Mechanisms of Insulin Resistance”
in Molecular Genetics of Endocrine Disorders. Ed by RV Thakkar, Published by Chapman and
Hall (London). 1997, pp 231-248. (ISBN 0 412 58970 2).(book chapter)
39) 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)
40) O’Rahilly S
Life without leptin.
Nature 1998; 392 6674:330-331. (News & Views).
41) Gregory R, Swinn RA, Wareham N, Curling V, Dalton KJ, Edwards OM, O’Rahilly S
An audit of a comprehensive screening programme for diabetes in pregnancy.
Practical Diabetes 1998, 15,2:45-48 (audit report)
42) Wareham N, O’Rahilly S
The changing classification and diagnosis of diabetes.
Brit Med J 1998; 317:359-360.(editorial)
43) Berger A, Brand M, O’Rahilly S
Uncoupling proteins: the unravelling of obesity?
Brit Med J 1998, 7173:1607-1608 (editorial)
44) O’Rahilly S
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The metabolic syndrome: all in the mind?
Diabetic Medicine 1999, 16: 355-357.(commentary)
45) O’Rahilly S.
Insulin resistance syndromes
in “Genetic insights in paediatric endocrinology & metabolism”, edited by S’O’Rahilly & DB
Dunger, publ. BioScientifica 1999.(book chapter)
46) O’Rahilly S.
“Genetic defects causing severe early-onset obesity”
in “Regulation of pituitary hormone secretion”, edited by P Beck-Peccoz, publ.BioScientifica,
1999.(book chapter)
47) 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.
Q J Med 2000; 93:7-14. (review)
*48) Barsh GS, Farooqi IS, O’Rahilly S
Genetics of body weight regulation: applications & opportunities.
Nature 2000; 404: 644-651.(review)
49) Montague CT, O’Rahilly
The perils of portliness: Causes and consequences of visceral adiposity.
Diabetes 2000; 49: 883-888. (review)
50) Vidal-Puig A, O’Rahilly S.
Obesity and diabetes: an avalanche of new information.
Mol Med Today 2000; 6(6):221-223. (meeting review)
51) Farooqi IS, O’Rahilly S
Recent advances in the genetics of severe childhood obesity.
Arch Dis Child 2000; 83(1):31-4. (review)
52) O’Rahilly S
Uncoupling protein 2: Adiposity Angel and Diabetes Devil.
Nature Medicine 2001; 7(7):770-772 (News and Views)
53) Hales CN & O’Rahilly S
The aetiology of type 2 diabetes in Oxford Textbook of Endocrinology. Edited by J Wass &
S Shalet; publ. Oxford University Press (book chapter).
54) Kopelman PG & O’Rahilly S
Obesity in Oxford Textbook of Medicine (4th edition). Edited by Warrell, Cox, Firth & Benz,
publ. Oxford University Press, (book chapter).
55) Kopelman P & O’Rahilly S
Obesity and Satiety in Comprehensive Clinical Endocrinology (3e). Edited by M Besser &
M Thorner, publ. Harcourt Health Sciences, (in press) (book chapter)
56) Vidal-Puig A & O’Rahilly S
Resistin: a new link between obesity and insulin resistance?
Clinical Endocrinology 2001; 55:437-438 (Commentary).
57) Vidal-Puig A & O’Rahilly S
Controlling the glucose factory.
Nature 2001; 413, 6852:125-126 (News and Views).
58) O’Rahilly S
Leptin: pathophysiology and implications for therapy.
Eat Weight Disord. 2001; 6 (3 Suppl):21 (review).
59) Crowley VEF, Yeo G, O’Rahilly S
Obesity Therapy: Altering the energy intake-and-expenditure balance sheet..
Nature Reviews (Drug Discovery) 2002; 1:276-286 (review).
60) Savage DB, O’Rahilly S.
Leptin: a novel therapeutic role in lipodystrophy.
J Clin Invest 2002; 109 (10):1285-86 (commentary).
61) O’Rahilly S
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Insights into obesity & insulin resistance from the study of extreme human phenotypes.
Eur J of Endocrinol 2002; 147, 4:435-441 (review).
O’Rahilly S.
Leptin: Defining its role in humans by the clinical study of genetic disorders.
Nutrition Reviews 2002; 60, 10:S30-34.
Hales CN and O’Rahilly S.
The aetiology of type 2 diabetes in ‘Oxford Textbook of endocrinology and Diabetes’, publ. OUP
2002,. ISBN 0-19-263045-8 (book chapter).
Farooqi IS, Yeo G, O’Rahilly S.
Binge eating as a phenotype of melanocortin 4 receptor gene mutations.
N Engl J Med 2003:349:606-9 (letter).
Gurnell M, Savage DB, Chatterjee VK, O’Rahilly S.
The metabolic syndrome: peroxisome proliferator-activated receptor gamma & its therapeutic
modulation.
J Clin Endocrinol Metab 2003; 88:2412-21.(review)
O’Rahilly S, Farooqi S, Yeo G, Challis BG
Human obesity: Lessons from monogenic disorders.
Endocrinology 2003; 144, 9:3757-64 (review).
Farooqi IS, O’Rahilly S
Monogenic human obesity syndromes.
Recent Prog Horm Res 2004; 59:409-24.(review)
O’Rahilly S, Yeo G, Farooqi IS
Melanocortin receptors weigh in.
Nat Med 2004; 10:351-2.(review)
Coll AP, Challis BG, O’Rahilly S
Peptide YY3-36 and satiety: clarity or confusion?
Endocrinology 2004; 145:2582-4.(commentary)
Coll AP, Farooqi IS, Challis BG, Yeo GSH, O’Rahilly S
Proopiomelanocortin & energy balance: Insights from human & murine genetics.
J Clin Endocrinol Metab 2004; 89:2557-2562. (review)
Semple RK and O’Rahilly S
PPAR gamma and glucose homeostasis in- ‘Insulin Resistance’ edited by Kumar S & O’Rahilly S,
publ John Wiley 2005 (book chapter). ISBN 0-470-85008-6. pp 237-267.
Savage DB and O’Rahilly S
Syndromes of severe insulin resistance in ‘Insulin Resistance’ edited by Kumar S &
O’Rahilly S, publ John Wiley 2005 (book chapter). ISBN 0-470-85008-6. pp 511-533.
Farooqi IS and O’Rahilly Genetics of Obesity (5th edition, vol 1, chapter 44, pp867-876), in
‘Endocrinology’ edited by Jameson & De Groot . ISBN 0-7216-0376-9.
Farooqi IS and O’Rahilly S
Genetics of Obesity in Endotext, Online Publication
Farooqi IS and O’Rahilly S
Monogenic obesity in humans.
Ann Rev Med 2005; 56:443-58 (review)
Coll AP, Challis BG, Yeo G, Farooqi IS, O’Rahilly S
Melanocortin receptors and energy homeostasis
Current Opinions in Endocrinol & Metab 2005 (review).
O’Rahilly S, Barroso I, Wareham NJ
The genetics of Type 2 diabetes: The end of the beginning?
Science 2005; 307:370-373 (Viewpoint)
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.
Diabetic Medicine 2005; 22:814-815 (report).
O’Rahilly S, Wareham N
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Genetic variants & common diseases – better late than never.
N Engl J Med 2006; 355(3):306-8
80) O’Rahilly S, Farooqi IS
Genetics of obesity
Philos Trans R Soc Lond B Biol Sci 2006; 361(1471):1095-105.
*81) Farooqi S, O’Rahilly S
Genetics of obesity in humans.
Endocr Rev 2006; 27(7):710-18.
82) Michalik L, AuwerxJ, Berger JP, Chatterjee VK, Glass CK, Gonzalez FJ, Grimaldi PA, kadowaki
T, Lazar MA, O’Rahilly S, Palmer CN, Plutzky J, Reddy JK, Spiegelman BM, Staels B, Wahli W
International Union of Pharmacology. LXI. Peroxisome proliferator-activated receptors.
Pharmacol Rev 2006; 58(4):726-4.
83) Semple RK, Chatterjee VK, O’Rahilly S
PPARgamma and human metabolic disease.
J Clin Invest 2006; 116, 3:581-589. (review)
84) Mellanby RJ, Mellor P, Villiers EJ, Herrtage ME, HalsallD, O’Rahilly S, McNeil PE, Mee AP,
Berry JL
Hypercalcaemia Associated with granulomatous lymphadenitis & elevated 1,25 dihydosyvitamin
D concentration in a dog.
J Small Anim Prac 2006; 47(4):207-12. (report)
*85) Coll AP, Farooqi IS, O’Rahilly S.
The hormonal control of food intake.
Cell. 2007 Apr 20;129(2):251-62. (review)
86) O’Rahilly S
Human obesity & insulin resistance: lessons from experiments of nature.
Biochem Soc Trans 2007; 35:33-6.
87) Farooqi S, O’Rahilly S
Genetic factors in human obesity.
Obes Rev 2007; 8, Suppl 1:37-40.
88) Brown M, Boon N, Brooks N, Brown E, Camm J, Caulfield M, Chilvers E, Gibson J, Griffin G,
Grossman A, Hall A, Hart G, Heagerty T, Home P, Hodgson H, Horton R, Hughes R, Khaw KT,
Lazarus J, Leaper D, McCollum P, Monson J, O’Rahilly S, Rowlands B, Scott J, Sutton R, Taylor
R, Watkins H, Wright N.
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 Mar 24;369(9566):967-8
89) 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 May 19; 369(9574):1673-5.
90) 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.
91) Farooqi S, O’Rahily S
Genetics of chronic disease: Obesity. Genes and Common Diseases (Chapter 22, pp 328-343)
Edited by Wright A & Hastie N. 2007. ISBN 978-0-521-83339-4.
92) O’Rahilly S
Human obesity and insulin resistance: lessons from experiments of nature.
Novartis Found Symp 2007; 286:13-20.
93) Farooqi IS, O’Rahilly S. Leptin and leptin receptor mutations. In: Obesity Genomics and
Postgenomics, edited by Clement and Sorensen. Published by CRC Press 2007; 205-213
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Farooqi IS, O’Rahilly S. POMC and PC1 mutations. In: Obesity Genomics and Postgenomics, edited
by Clement and Sorensen. Published by CRC Press 2007; 213-221
Farooqi IS, O’Rahilly S
Mutations in ligands and receptors of the leptin-melanocortin pathway that lead to obesity.
Nat Clin Pract Endocirnol Metab; 2008;
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
(book chapter) ISBN 1-4200-5144-X; pp45-55.
Coll AP, Yeo G, Farooqi S, O’Rahilly S
SnapShot: The Hormonal control of food intake.
Cell 2008 135(3): 572e 1-2.
O’Rahilly S, Weir GC, Matthews DR
An appreciation of Robert Turner.
Diabetes 2008; 57(11):2918-21.
Farooqi IS, O’Rahilly S
Mutations in ligands & receptors of the leptin-melanocortin pathway that lead to obesity.
Nat Clin Proct Endocrinol Metab 2008; 4(10):569-77
O’Rahilly S, Farooqi IS
Human obesity as a heritable disorder of the central control of energy balance.
Int J Obesity 2008; 32, suppl 7:555-561 (review).
O’Rahilly S, Farooqi IS
Human obesity: a heritable neurobehavioral disorder that is highly sensitive to environmental
conditions.
Diabetes 2008; 57(11):2905-2910.
O’Rahilly S
Human genetics illuminates the paths to metabolic disease.
Nature 2009; 462(7271):307-314 (review).
Semple R, Savage D, O’Rahilly S.
Sex hormone-binding globulin & risk of type 2 diabetes.
N Engl J Med 2009; 361(27):2677 (letter)
Farooqi IS and O’Rahilly S.
Leptin: a pivotal regulator of human energy homeostasis.
Am J Clinical Nutr 2009; 89(3):980S-984S (review).
Bolani R, Cinti S, Savage D, 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-e12 (letter).
Savage DB, O’Rahilly S
Leptin therapy in lipodystrophy.
Diabetologia 2010; 53(1):7-9 (review).
Huang-Doran I, Sleigh A, Rochford J, O’Rahilly S, Savage D.
Lipodystrophy: metabolic insights from a rare disorder.
J Endocrinol 2010; 207:245-255. PMID 21270239 (review).
Semple R, Savage D, Cochran E, Gorden P, O’Rahilly S
Genetic syndromes of severe insulin resistance.
Endocr Rev 2011; May 2. PMID 21536711.
Lowe C, O’Rahilly S, Rochford J
Adipogenesis at a glance.
J Cell Sci 2011; 124:2681-6 (review).
Parker V, Savage D, O’Rahilly S, Semple R.
Mechanistic insights into insulin resistance in the genetic era.
Diabet Med 2011; 28(12): 1476-86. PMID 21992440 (review).
Speakman J, Levitsky D, Allison D et al
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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(6):733-45. PMID 22065844 (review).
112) Stears A, O’Rahilly S, Semple R, Savage D.
Metabolic insights from extreme human insulin resistance phenotypes.
Best Pract Res Clin Endocrinol Metab 2012: 26(2):145-57. PMID 22498245 (review).
113) Larder R, O’Rahilly S
Shedding poinds after going under the knife: Guts over glory – why diets fail.
Nat Med 2012; 18(5):666-7. PMID 22561823 (review).
114) Yeo GS, O'Rahilly S.
Uncovering the biology of FTO.
Mol Metab. 2012 Aug 3;1(1-2):32-6. doi: 10.1016/j.molmet.2012.06.001. PMID: 24024116.
Books Edited
Genetic insights in paediatric endocrinology & metabolism, edited by S O’Rahilly & DB Dunger, publ.
BioScientifica 1999, ISBN 1-901-978-06-0.
Insulin resistance & cardiovascular disease, edited by S O’Rahilly, publ.BioScientifica, 1999, ISBN 1901978-09-5.
Insulin resistance, edited by S Kumar & S O’Rahilly, publ. John Wiley. 2005. ISBN 0-470-85008-6.
Genetics of Obesity Syndromes, edited by P Beales, IS Farooqi, S O’Rahilly publ OUP 2009.
ISBN 978-0-19-530016-1.
35