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Stephen O'Rahilly

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Eleanor Wheeler; Inês Barroso; Hannah Blackburn; Elena G Bochukova; Sumedha Garg; Elana Henning; Ni Huang; Matthew E Hurles; Julia M Keogh; Sarah Lindsay; Ruth J F Loos; Stephen O'Rahilly; Nick J Wareham; I Sadaf Farooqi
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
Pawan Gulati; Heather P Harding; Paul J Lehner; Marcella Ma; Stephen O'Rahilly; Debra Rimmington; David Ron; Yi-Chun Loraine Tung; Robin Antrobus; Frances M Ashcroft; Man Ka Cheung; Chris D Church; Anthony P Coll; Roger D Cox; Giles S H Yeo
Role for the obesity-related FTO gene in the cellular sensing of amino acids.
Michael E Doche; Lawrence S Argetsinger; Inês Barroso; Elena G Bochukova; Christin Carter-Su; Tim Cheetham; Joel M Cline; Anne Dale; Elana Henning; Julia M Keogh; Stephen O'Rahilly; Laura R Pearce; Liangyou Rui; Hsiao-Wen Su; Sadia Saeed; I Sadaf Farooqi
Human SH2B1 mutations are associated with maladaptive behaviors and obesity.

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2013: Eleanor Wheeler; Inês Barroso; Hannah Blackburn; Elena G Bochukova; Sumedha Garg; Elana Henning; Ni Huang; Matthew E Hurles; Julia M Keogh; Sarah Lindsay; Ruth J F Loos; Stephen O'Rahilly; Nick J Wareham; I Sadaf Farooqi
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
Nature genetics 2013;45(5):513-7.
2013: Pawan Gulati; Heather P Harding; Paul J Lehner; Marcella Ma; Stephen O'Rahilly; Debra Rimmington; David Ron; Yi-Chun Loraine Tung; Robin Antrobus; Frances M Ashcroft; Man Ka Cheung; Chris D Church; Anthony P Coll; Roger D Cox; Giles S H Yeo
Role for the obesity-related FTO gene in the cellular sensing of amino acids.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(7):2557-62.
2012: Michael E Doche; Lawrence S Argetsinger; Inês Barroso; Elena G Bochukova; Christin Carter-Su; Tim Cheetham; Joel M Cline; Anne Dale; Elana Henning; Julia M Keogh; Stephen O'Rahilly; Laura R Pearce; Liangyou Rui; Hsiao-Wen Su; Sadia Saeed; I Sadaf Farooqi
Human SH2B1 mutations are associated with maladaptive behaviors and obesity.
The Journal of clinical investigation 2012;122(12):4732-6.
2012: C E Lowe; U Obi; Stephen O'Rahilly; R J Dennis; Justin J Rochford
Investigating the involvement of the ATF6α pathway of the unfolded protein response in adipogenesis.
International journal of obesity (2005) 2012;36(9):1248-51.
2012: Marcella Ma; Stephen O'Rahilly; David Ron; Heather P Harding; Giles S H Yeo
Kinetic analysis of FTO (fat mass and obesity-associated) reveals that it is unlikely to function as a sensor for 2-oxoglutarate.
The Biochemical journal 2012;444(2):183-7.
2012: Rachel Larder; Stephen O'Rahilly
Shedding pounds after going under the knife: guts over glory-why diets fail.
Nature medicine 2012;18(5):666-7.
2012: Anna Stears; Robert K Semple; Stephen O'Rahilly; David B Savage
Metabolic insights from extreme human insulin resistance phenotypes.
Best practice & research. Clinical endocrinology & metabolism 2012;26(2):145-57.
2011: V E R Parker; David B Savage; Stephen O'Rahilly; R K Semple
Mechanistic insights into insulin resistance in the genetic era.
Diabetic medicine : a journal of the British Diabetic Association 2011;28(12):1476-86.
2011: Sheetal Gandotra; Amandine Girousse; Koini Lim; Stephen O'Rahilly; Vladimir Saudek; David B Savage
Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5).
The Journal of biological chemistry 2011;286(40):34998-5006.
2011: Robert K Semple; David B Savage; Elaine K Cochran; Phillip Gorden; Stephen O'Rahilly
Genetic syndromes of severe insulin resistance.
Endocrine reviews 2011;32(4):498-514.
2011: Marcus P Corander; Debra Rimmington; Benjamin G Challis; Stephen O'Rahilly; Anthony P Coll
Loss of agouti-related peptide does not significantly impact the phenotype of murine POMC deficiency.
Endocrinology 2011;152(5):1819-28.
2011: E Raffan; Maria A Soos; N Rocha; A Tuthill; A R Thomsen; C S Hyden; J W Gregory; P Hindmarsh; M Dattani; E Cochran; J Al Kaabi; P Gorden; Inês Barroso; N Morling; Stephen O'Rahilly; Robert K Semple
Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.
Diabetologia 2011;54(5):1057-65.
2011: Sheetal Gandotra; Caroline Le Dour; William Bottomley; Pascale Cervera; Philippe Giral; Yves Reznik; Guillaume Charpentier; Martine Auclair; Marc Delépine; Inês Barroso; Robert K Semple; Mark Lathrop; Olivier Lascols; Jacqueline Capeau; Stephen O'Rahilly; Jocelyne Magré; David B Savage; Corinne Vigouroux
Perilipin deficiency and autosomal dominant partial lipodystrophy.
The New England journal of medicine 2011;364(8):740-8.
2011: Eleanor Raffan; David B Savage; Carol Scott; Claire Smith; Saeed Al Turki; Inês Barroso; Sanjeev Bhaskar; Gillian Carpenter; Alison Coffey; Allan Daly; Eleanor Howard; Liam A Hurst; Naz Khan; Helen Kingston; Mark O'Driscoll; Stephen O'Rahilly; Aarno Palotie; Robert K Semple
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient.
Frontiers in endocrinology 2011;2():8.
2011: Carlos E Martinelli; Julia M Keogh; Jerry R Greenfield; Elana Henning; Agatha A van der Klaauw; Anthea Blackwood; Stephen O'Rahilly; Ferdinand Roelfsema; Cecilia Camacho-Hübner; Hanno Pijl; I Sadaf Farooqi
Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion.
The Journal of clinical endocrinology and metabolism 2011;96(1):E181-8.
2010: Isabel Huang-Doran; Alison Sleigh; Justin J Rochford; Stephen O'Rahilly; David B Savage
Lipodystrophy: metabolic insights from a rare disorder.
The Journal of endocrinology 2010;207(3):245-55.
2010: Z Jovanovic; Y C L Tung; B Y H Lam; Stephen O'Rahilly; G S H Yeo
Identification of the global transcriptomic response of the hypothalamic arcuate nucleus to fasting and leptin.
Journal of neuroendocrinology 2010;22(8):915-25.
2010: Fiona M Regan; Rachel M Williams; Anna McDonald; A Margot Umpleby; Carlo L Acerini; Stephen O'Rahilly; Roman Hovorka; Robert K Semple; David D Dunger
Treatment with recombinant human insulin-like growth factor (rhIGF)-I/rhIGF binding protein-3 complex improves metabolic control in subjects with severe insulin resistance.
The Journal of clinical endocrinology and metabolism 2010;95(5):2113-22.
2010: M P Corander; B G Challis; E L Thompson; Z Jovanovic; Y C Loraine Tung; D Rimmington; I T Huhtaniemi; K G Murphy; A K Topaloglu; G S H Yeo; Stephen O'Rahilly; W S Dhillo; R K Semple; A P Coll
The effects of neurokinin B upon gonadotrophin release in male rodents.
Journal of neuroendocrinology 2010;22(3):181-7.
2010: Elena G Bochukova; Ni Huang; Julia Keogh; Elana Henning; Carolin Purmann; Kasia Blaszczyk; Sadia Saeed; Julian Hamilton-Shield; Jill Clayton-Smith; Stephen O'Rahilly; Matthew E Hurles; I Sadaf Farooqi
Large, rare chromosomal deletions associated with severe early-onset obesity.
Nature 2010;463(7281):666-70.
2010: Yi-Chun Loraine Tung; Eduard Ayuso; Xiaoye Shan; Fatima Bosch; Stephen O'Rahilly; Anthony P Coll; Giles S H Yeo
Hypothalamic-specific manipulation of Fto, the ortholog of the human obesity gene FTO, affects food intake in rats.
PloS one 2010;5(1):e8771.
2010: David Meyre; Karine Proulx; Hiroko Kawagoe-Takaki; Vincent Vatin; Ruth Gutiérrez-Aguilar; Debbie Lyon; Marcella Ma; Hélène Choquet; Fritz F Horber; Wim Van Hul; Luc Van Gaal; Beverley Balkau; Sophie Visvikis-Siest; François Pattou; I Sadaf Farooqi; Vladimir Saudek; Stephen O'Rahilly; philippe froguel; Barbara Sedgwick; Giles S H Yeo
Prevalence of loss-of-function FTO mutations in lean and obese individuals.
Diabetes 2010;59(1):311-8.
2010: Victoria A Payne; Wo-Shing Au; Christopher E Lowe; Rahman Shaikh; Jacob E Friedman; Stephen O'Rahilly; Justin J Rochford
C/EBP transcription factors regulate SREBP1c gene expression during adipogenesis.
The Biochemical journal 2010;425(1):215-23.
2010: D B Savage; Stephen O'Rahilly
Leptin therapy in lipodystrophy.
Diabetologia 2010;53(1):7-9.
2009: Stephen O'Rahilly
Human genetics illuminates the paths to metabolic disease.
Nature 2009;462(7271):307-14.
2009: Satya Dash; Hiroyuki Sano; Justin J Rochford; Robert K Semple; Giles Yeo; Caroline S S Hyden; Maria A Soos; James Clark; Andrew Rodin; Claudia Langenberg; Celine Druet; Katherine A Fawcett; Y C Loraine Tung; Nicolas J Wareham; Inês Barroso; Gustav E Lienhard; Stephen O'Rahilly; David B Savage
A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(23):9350-5.
2009: K B Boyle; Dirk Hadaschik; Sam Virtue; Will P Cawthorn; S H Ridley; Stephen O'Rahilly; Kenneth Siddle
The transcription factors Egr1 and Egr2 have opposing influences on adipocyte differentiation.
Cell death and differentiation 2009;16(5):782-9.
2009: A Kemal Topaloglu; Frank Reimann; Metin Guclu; Ayse Serap Yalin; L Damla Kotan; Keith Michael Porter; Ayse Serin; Neslihan O Mungan; Joshua R Cook; Mehmet N Ozbek; Sazi Imamoglu; N Sema Akalin; Bilgin Yuksel; Stephen O'Rahilly; Robert K Semple
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.
Nature genetics 2009;41(3):354-8.
2009: J R Greenfield; A Tuthill; Maria A Soos; R K Semple; Halsall David; A Chaudhry; Stephen O'Rahilly
Severe insulin resistance due to anti-insulin antibodies: response to plasma exchange and immunosuppressive therapy.
Diabetic medicine : a journal of the British Diabetic Association 2009;26(1):79-82.
2009: Jerry R Greenfield; Jeffrey W Miller; Julia M Keogh; Elana Henning; Julie H Satterwhite; Gregory S Cameron; Beatrice Astruc; John P Mayer; Soren Brage; Teik Choon See; David J Lomas; Stephen O'Rahilly; I Sadaf Farooqi
Modulation of blood pressure by central melanocortinergic pathways.
The New England journal of medicine 2009;360(1):44-52.
2009: David B Savage; Robert K Semple; Menna R Clatworthy; Paul A Lyons; B Paul Morgan; Elaine Cochran; Phillip Gorden; Philippa Raymond-Barker; Peter R Murgatroyd; Claire Adams; Ian Scobie; Ghulam J Mufti; Graeme J M Alexander; Sathia Thiru; Incoronata Murano; Saverio Cinti; Afzal N Chaudhry; Kenneth G C Smith; Stephen O'Rahilly
Complement abnormalities in acquired lipodystrophy revisited.
The Journal of clinical endocrinology and metabolism 2009;94(1):10-6.
2009: Karen Tan; Irina D Pogozheva; Giles S H Yeo; Dirk Hadaschik; Julia M Keogh; Carrie Haskell-Leuvano; Stephen O'Rahilly; Henry I Mosberg; I Sadaf Farooqi
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
Endocrinology 2009;150(1):114-25.
2008: Stephen O'Rahilly; I Sadaf Farooqi
Human obesity as a heritable disorder of the central control of energy balance.
International journal of obesity (2005) 2008;32 Suppl 7():S55-61.
2008: Wendy Kimber; Frank Peelman; Xavier Prieur; Teresia Wangensteen; Stephen O'Rahilly; Jan Tavernier; I Sadaf Farooqi
Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor.
Endocrinology 2008;149(12):6043-52.
2008: Y C Loraine Tung; Marcella Ma; Sarah Piper; Anthony Coll; Stephen O'Rahilly; Giles S H Yeo
Novel leptin-regulated genes revealed by transcriptional profiling of the hypothalamic paraventricular nucleus.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2008;28(47):12419-26.
2008: Stephen O'Rahilly; Gordon C Weir; David R Matthews
An appreciation of Robert Turner.
Diabetes 2008;57(11):2918-21.
2008: Stephen O'Rahilly; I Sadaf Farooqi
Human obesity: a heritable neurobehavioral disorder that is highly sensitive to environmental conditions.
Diabetes 2008;57(11):2905-10.
2008: Garry D Tan; David B Savage; Barbara A Fielding; Jenny Collins; Leanne Hodson; Sandy M Humphreys; Stephen O'Rahilly; Krishna Chatterjee; Keith N Frayn; Fredrik Karpe
Fatty acid metabolism in patients with PPARgamma mutations.
The Journal of clinical endocrinology and metabolism 2008;93(11):4462-70.
2008: John W M Creemers; Yung Seng Lee; Robert L Oliver; Mithat Bahceci; Alpaslan Tuzcu; Deniz Gokalp; Julia Keogh; Stefan Herber; Anne White; Stephen O'Rahilly; I Sadaf Farooqi
Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway.
The Journal of clinical endocrinology and metabolism 2008;93(11):4494-9.
2008: Xavier Prieur; Y C Loraine Tung; Julian L Griffin; I Sadaf Farooqi; Stephen O'Rahilly; Anthony P Coll
Leptin regulates peripheral lipid metabolism primarily through central effects on food intake.
Endocrinology 2008;149(11):5432-9.
2008: Anthony P Coll; Giles S H Yeo; I Sadaf Farooqi; Stephen O'Rahilly
SnapShot: the hormonal control of food intake.
Cell 2008;135(3):572.e1-2.
2008: I Sadaf Farooqi; Stephen O'Rahilly
Mutations in ligands and receptors of the leptin-melanocortin pathway that lead to obesity.
Nature clinical practice. Endocrinology & metabolism 2008;4(10):569-77.
2008: Karani Santhanakrishnan Vimaleswaran; Jian'an Luan; Gitte Andersen; Y Li Muller; Eleanor Wheeler; Ema C Brito; Stephen O'Rahilly; Oluf Pedersen; Leslie J Baier; William C Knowler; Inês Barroso; Nicholas J Wareham; Ruth J F Loos; Paul W Franks
The Gly482Ser genotype at the PPARGC1A gene and elevated blood pressure: a meta-analysis involving 13,949 individuals.
Journal of applied physiology (Bethesda, Md. : 1985) 2008;105(4):1352-8.
2008: Katherine A Fawcett; Neil Grimsey; Ruth J F Loos; Eleanor Wheeler; Allan Daly; Maria A Soos; Robert K Semple; Holly Syddall; Cyrus Cooper; Symeon Siniossoglou; Stephen O'Rahilly; Nicholas J Wareham; Inês Barroso
Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations.
Diabetes 2008;57(9):2527-33.
2008: Jane Wardle; Susan Carnell; Claire M A Haworth; I Sadaf Farooqi; Stephen O'Rahilly; Robert Plomin
Obesity associated genetic variation in FTO is associated with diminished satiety.
The Journal of clinical endocrinology and metabolism 2008;93(9):3640-3.
2008: Fanny Stutzmann; Karen Tan; Vincent Vatin; Christian Dina; Béatrice Jouret; Jean Tichet; Beverley Balkau; Natascha Potoczna; Fritz Horber; Stephen O'Rahilly; I Sadaf Farooqi; philippe froguel; David Meyre
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.
Diabetes 2008;57(9):2511-8.
2008: Victoria A Payne; Neil Grimsey; Antoinette Tuthill; Sam Virtue; Sarah L Gray; Edoardo Dalla Nora; Robert K Semple; Stephen O'Rahilly; Justin J Rochford
The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation.
Diabetes 2008;57(8):2055-60.
2008: Robert K Semple; Elaine Cochran; Maria A Soos; Keith A Burling; David B Savage; Phillip Gorden; Stephen O'Rahilly
Plasma adiponectin as a marker of insulin receptor dysfunction: clinical utility in severe insulin resistance.
Diabetes care 2008;31(5):977-9.
2008: C A Kim; Marc Delépine; Emilie Boutet; Haquima El Mourabit; Soazig Le Lay; Muriel Meier; Mona Nemani; Etienne Bridel; Claudia C Leite; Debora R Bertola; Robert K Semple; Stephen O'Rahilly; Isabelle Dugail; Jacqueline Capeau; Mark Lathrop; Jocelyne Magré
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.
The Journal of clinical endocrinology and metabolism 2008;93(4):1129-34.
2008: Daniel Lam; Magdalena J Przydzial; Simon H Ridley; Giles S H Yeo; Justin J Rochford; Stephen O'Rahilly; Lora K Heisler
Serotonin 5-HT2C receptor agonist promotes hypophagia via downstream activation of melanocortin 4 receptors.
Endocrinology 2008;149(3):1323-8.
2008: Wo-Shing Au; V A Payne; Stephen O'Rahilly; Justin J Rochford
The NR4A family of orphan nuclear receptors are not required for adipogenesis.
International journal of obesity (2005) 2008;32(2):388-92.
2008: Ulf Risérus; Dennis Sprecher; Tony Johnson; Eric Olson; Sandra Hirschberg; Aixue Liu; Zeke Fang; Priti Hegde; Duncan Richards; Leli Sarov-Blat; Jay C Strum; Samar Basu; Jane Cheeseman; Barbara A Fielding; Sandy M Humphreys; Theodore Danoff; Niall R Moore; Peter Murgatroyd; Stephen O'Rahilly; Pauline Sutton; Tim Willson; David Hassall; Keith N Frayn; Fredrik Karpe
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):332-9.
2008: David B Savage; Lanmin Zhai; Balasubramanian Ravikumar; Cheol Soo Choi; Johanna E Snaar; Amanda C McGuire; Sung-Eun Wou; Gema Medina-Gomez; Sheene Kim; Cheryl B Bock; Dyann M Segvich; Bhavana Solanky; Dinesh Deelchand; Antonio Vidal-Puig; Nicholas J Wareham; Gerald I Shulman; Fredrik Karpe; Roy Taylor; Bartholomew A Pederson; Peter J Roach; Stephen O'Rahilly; Anna A DePaoli-Roach
A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice.
PLoS medicine 2008;5(1):e27.
2007: Thomas Gerken; Christophe A Girard; Yi-Chun Loraine Tung; Celia J Webby; Vladimir Saudek; Kirsty S Hewitson; Giles S H Yeo; Michael McDonough; Sharon Cunliffe; Luke A McNeill; Juris Galvanovskis; Patrik Rorsman; Peter Robins; Xavier Prieur; Anthony P Coll; Marcella Ma; Zorica Jovanovic; I Sadaf Farooqi; Barbara Sedgwick; Inês Barroso; Tomas Lindahl; Chris P Ponting; Frances M Ashcroft; Stephen O'Rahilly; Christopher J Schofield
The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase.
Science (New York, N.Y.) 2007;318(5855):1469-72.
2007: Rubén Nogueiras; Petra Wiedmer; Diego Perez-Tilve; Christelle Veyrat-Durebex; Julia M Keogh; Gregory M Sutton; Paul Pfluger; Tamara R Castaneda; Susanne Neschen; Susanna M Hofmann; Philip N Howles; Donald A Morgan; Stephen C Benoit; Ildiko Szanto; Brigitte Schrott; Annette Schürmann; Hans-Georg Joost; Craig Hammond; David Y Hui; Stephen C Woods; Kamal Rahmouni; Andrew A Butler; I Sadaf Farooqi; Stephen O'Rahilly; Françoise Rohner-Jeanrenaud; Matthias H Tschöp
The central melanocortin system directly controls peripheral lipid metabolism.
The Journal of clinical investigation 2007;117(11):3475-88.
2007: Y C Loraine Tung; Debra Rimmington; Stephen O'Rahilly; Anthony P Coll
Pro-opiomelanocortin modulates the thermogenic and physical activity responses to high-fat feeding and markedly influences dietary fat preference.
Endocrinology 2007;148(11):5331-8.
2007: I Sadaf Farooqi; Ed Bullmore; Julia Keogh; Jonathan Gillard; Stephen O'Rahilly; Paul C Fletcher
Leptin regulates striatal regions and human eating behavior.
Science (New York, N.Y.) 2007;317(5843):1355.
2007: Miguel López; Ricardo Lage; Y C Loraine Tung; Benjamin G Challis; L Varela; Sam Virtue; Stephen O'Rahilly; Antonio Vidal-Puig; Carlos Diéguez; Anthony P Coll
Orexin expression is regulated by alpha-melanocyte-stimulating hormone.
Journal of neuroendocrinology 2007;19(9):703-7.
2007: I Sadaf Farooqi; Karolien Volders; Richard Stanhope; Robert Heuschkel; Anne White; Emma Lank; Julia Keogh; Stephen O'Rahilly; John W M Creemers
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.
The Journal of clinical endocrinology and metabolism 2007;92(9):3369-73.
2007: Victoria A Payne; Wo-Shing Au; Sarah L Gray; Edoardo Dalla Nora; Rahman Shaikh; Rebecca Sanders; Dirk Hadaschik; Jacob E Friedman; Stephen O'Rahilly; Justin J Rochford
Sequential regulation of diacylglycerol acyltransferase 2 expression by CAAT/enhancer-binding protein beta (C/EBPbeta) and C/EBPalpha during adipogenesis.
The Journal of biological chemistry 2007;282(29):21005-14.
2007: Zoi Michailidou; Anthony P Coll; Christopher J Kenyon; Nicholas M Morton; Stephen O'Rahilly; Jonathan R Seckl; Karen E Chapman
Peripheral mechanisms contributing to the glucocorticoid hypersensitivity in proopiomelanocortin null mice treated with corticosterone.
The Journal of endocrinology 2007;194(1):161-70.
2007: Ruth J F Loos; Paul W Franks; Richard W Francis; Inês Barroso; Fiona M Gribble; David B Savage; Ken K Ong; Stephen O'Rahilly; Nicholas J Wareham
TCF7L2 polymorphisms modulate proinsulin levels and beta-cell function in a British Europid population.
Diabetes 2007;56(7):1943-7.
2007: Lora K Heisler; Nina Pronchuk; Katsunori Nonogaki; Ligang Zhou; Jacob Raber; Loraine Tung; Giles S H Yeo; Stephen O'Rahilly; William F Colmers; Joel K Elmquist; Laurence H Tecott
Serotonin activates the hypothalamic-pituitary-adrenal axis via serotonin 2C receptor stimulation.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(26):6956-64.
2007: Halsall David; M Mangi; Maria A Soos; Michael N Fahie-Wilson; G Wark; R Mainwaring-Burton; Stephen O'Rahilly
Hypoglycemia due to an insulin binding antibody in a patient with an IgA-kappa myeloma.
The Journal of clinical endocrinology and metabolism 2007;92(6):2013-6.
2007: Maria Gueorguiev; Steven Wiltshire; Edwin A Garcia; Charles A Mein; Cécile Lecoeur; Brigitte Kristen; Rebecca Allotey; Andrew T Hattersley; Mark Walker; Stephen O'Rahilly; philippe froguel; Ashley B Grossman; Mark I McCarthy; Graham A Hitman; Marta Korbonits
Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes.
The Journal of clinical endocrinology and metabolism 2007;92(6):2201-4.
2007: Robert K Semple; Nils H Halberg; Keith Burling; Maria A Soos; Todd D Schraw; Jian'an Luan; Elaine Cochran; David D Dunger; Nicholas J Wareham; Philipp E Scherer; Phillip Gorden; Stephen O'Rahilly
Paradoxical elevation of high-molecular weight adiponectin in acquired extreme insulin resistance due to insulin receptor antibodies.
Diabetes 2007;56(6):1712-7.
2007: Morris Brown; Nick Boon; Nick Brooks; John Camm; Paul A Corris; Mark Caulfield; Edwin Chilvers; Pamela W Ewan; John Gibson; George Griffin; Ashley Grossman; Alistair Hall; George Hart; Tony Heagerty; Humphrey Hodgson; Philip Home; Richard Hughes; Kay-Tee Khaw; John Lazarus; David J Leaper; John Monson; Stephen O'Rahilly; Brian Rowlands; Neil Scolding; Robert Sutton; Roy Taylor; Hugh Watkins; Nick Wright
Medical training in the UK: sleepwalking to disaster.
Lancet 2007;369(9574):1673-5.
2007: johannes aerts; Roelof Ottenhoff; Andrew S Powlson; Aldo Grefhorst; Martin van Eijk; Peter F Dubbelhuis; Jan Aten; Folkert Kuipers; Mireille J Serlie; Tom Wennekes; Jaswinder Sethi; Stephen O'Rahilly; Herman S Overkleeft
Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity.
Diabetes 2007;56(5):1341-9.
2007: Paul W Franks; Ruth J F Loos; Søren Brage; Stephen O'Rahilly; Nicholas J Wareham; Ulf Ekelund
Physical activity energy expenditure may mediate the relationship between plasma leptin levels and worsening insulin resistance independently of adiposity.
Journal of applied physiology (Bethesda, Md. : 1985) 2007;102(5):1921-6.
2007: Anthony P Coll; I Sadaf Farooqi; Stephen O'Rahilly
The hormonal control of food intake.
Cell 2007;129(2):251-62.
2007: Morris Brown; Nick Boon; Nick Brooks; Edwina Brown; John Camm; Mark Caulfield; Edwin Chilvers; John Gibson; George Griffin; Ashley Grossman; Alistair Hall; George Hart; Tony Heagerty; Philip Home; Humphrey Hodgson; Richard Horton; Richard Hughes; Kay-Tee Khaw; John Lazarus; David J Leaper; Peter McCollum; John Monson; Stephen O'Rahilly; Brian Rowlands; Julian Scott; Robert Sutton; Roy Taylor; Hugh Watkins; Nick Wright
Modernising medical careers, medical training application service, and the postgraduate medical education and training board: time for the emperors to don their clothes.
Lancet 2007;369(9566):967-8.
2007: José L Mesa; Ruth J F Loos; Paul W Franks; Ken K Ong; Jian'an Luan; Stephen O'Rahilly; Nicholas J Wareham; Inês Barroso
Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies.
Diabetes 2007;56(3):884-9.
2007: Karen Tan; Wendy Kimber; Jian'an Luan; Maria A Soos; Robert K Semple; Nicholas J Wareham; Stephen O'Rahilly; Inês Barroso
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.
2007: S C Collins; Jian'an Luan; A J Thompson; Allan Daly; Robert K Semple; Stephen O'Rahilly; Nicholas J Wareham; Inês Barroso
Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations.
Diabetologia 2007;50(3):555-62.
2007: Paul W Franks; Ulf Ekelund; Søren Brage; Jian'an Luan; Alan J Schafer; Stephen O'Rahilly; Inês Barroso; Nicholas J Wareham
PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge.
Diabetologia 2007;50(3):569-73.
2007: Khalid K Alharbi; Emmanuel Spanakis; Karen Tan; Matt J Smith; Mohammed Aldahmesh; Sandra D O'Dell; Avan Aihie Sayer; Debbie A Lawlor; Shah Ebrahim; George Davey Smith; Stephen O'Rahilly; Sadaf Farooqi; Cyrus Cooper; David I W Phillips; Ian N M Day
Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.
Human mutation 2007;28(3):294-302.
2007: C-C C Hung; Jian'an Luan; M Sims; Julia M Keogh; C Hall; Nicholas J Wareham; Stephen O'Rahilly; I Sadaf Farooqi
Studies of the SIM1 gene in relation to human obesity and obesity-related traits.
International journal of obesity (2005) 2007;31(3):429-34.
2007: Stephen O'Rahilly
Human obesity and insulin resistance: lessons from experiments of nature.
Biochemical Society transactions 2007;35(Pt 1):33-6.
2007: Juliette Gray; Giles Yeo; C Hung; Julia Keogh; P Clayton; K Banerjee; A McAulay; Stephen O'Rahilly; I Sadaf Farooqi
Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity.
International journal of obesity (2005) 2007;31(2):359-64.
2007: I Sadaf Farooqi; Teresia Wangensteen; Stephan Collins; Wendy Kimber; Giuseppe Matarese; Julia M Keogh; Emma Lank; Bill Bottomley; Judith Lopez-Fernandez; Ivan Ferraz-Amaro; Mehul T Dattani; Oya Ercan; Anne Grethe Myhre; Lars Retterstol; Richard Stanhope; Julie A Edge; Sheila McKenzie; Nader Lessan; Maryam Ghodsi; Veronica De Rosa; Francesco Perna; Silvia Fontana; Inês Barroso; DAG UNDLIEN; Stephen O'Rahilly
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
The New England journal of medicine 2007;356(3):237-47.
2007: Ruth J F Loos; Inês Barroso; Stephen O'Rahilly; Nicholas J Wareham
Comment on "A common genetic variant is associated with adult and childhood obesity".
Science (New York, N.Y.) 2007;315(5809):187; author reply 187.
2007: Stephen O'Rahilly
Human obesity and insulin resistance: lessons from experiments of nature.
Novartis Foundation symposium 2007;286():13-20; discussion 20-3, 162-3, 196-203.
2007: David B Savage; Robert K Semple; V Krishna K Chatterjee; J K H Wales; R J M Ross; Stephen O'Rahilly
A clinical approach to severe insulin resistance.
Endocrine development 2007;11():122-32.
2007: Raquel Coelho; Jonathan Wells; John Symth; Robert Semple; Stephen O'Rahilly; Simon Eaton; Khalid Hussain
Severe hypoinsulinaemic hypoglycaemia in a premature infant associated with poor weight gain and reduced adipose tissue.
Hormone research 2007;68(2):91-8.
2007: I Sadaf Farooqi; Stephen O'Rahilly
Is leptin an important physiological regulator of CRP?
Nature medicine 2007;13(1):16-7; author reply 19-21.
2007: A Tuthill; Robert K Semple; R Day; Maria A Soos; E Sweeney; P J Seymour; M Didi; Stephen O'Rahilly
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.
Clinical endocrinology 2007;66(1):21-6.
2006: Liliane Michalik; Johan Auwerx; Joel P Berger; V Krishna Chatterjee; Christopher K Glass; Frank J Gonzalez; Paul A Grimaldi; Takashi Kadowaki; Mitchell Lazar; Stephen O'Rahilly; Colin N A Palmer; Jorge Plutzky; Janardan K Reddy; Bruce M Spiegelman; Bart Staels; Walter Wahli
International Union of Pharmacology. LXI. Peroxisome proliferator-activated receptors.
Pharmacological reviews 2006;58(4):726-41.
2006: Juliette Gray; Giles S H Yeo; James Cox; Jenny Morton; Anna-Lynne R Adlam; Julia M Keogh; Jack A Yanovski; Areeg El Gharbawy; Joan C Han; Y C Loraine Tung; John R Hodges; F Lucy Raymond; Stephen O'Rahilly; I Sadaf Farooqi
Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene.
Diabetes 2006;55(12):3366-71.
2006: Sadaf Farooqi; Stephen O'Rahilly
Genetics of obesity in humans.
Endocrine reviews 2006;27(7):710-18.
2006: Sarah L Gray; Edoardo Dalla Nora; Emma C Backlund; Monia Manieri; Sam Virtue; Robert C Noland; Stephen O'Rahilly; Ronald N Cortright; Saverio Cinti; Barbara Cannon; Antonio Vidal-Puig
Decreased brown adipocyte recruitment and thermogenic capacity in mice with impaired peroxisome proliferator-activated receptor (P465L PPARgamma) function.
Endocrinology 2006;147(12):5708-14.
2006: Y C Loraine Tung; Sarah J Piper; Debra Yeung; Stephen O'Rahilly; Anthony P Coll
A comparative study of the central effects of specific proopiomelancortin (POMC)-derived melanocortin peptides on food intake and body weight in pomc null mice.
Endocrinology 2006;147(12):5940-7.
2006: K A Fawcett; Nicholas J Wareham; Jian'an Luan; H Syddall; C Cooper; Stephen O'Rahilly; I N M Day; Manjinder S Sandhu; Inês Barroso
PARL Leu262Val is not associated with fasting insulin levels in UK populations.
Diabetologia 2006;49(11):2649-52.
2006: Anne-Helen Harding; R J F Loos; Jian'an Luan; Stephen O'Rahilly; Nicholas J Wareham; Inês Barroso
Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes.
Diabetologia 2006;49(11):2642-8.
2006: Maura Agostini; Erik Schoenmakers; Catherine Mitchell; Istvan Szatmari; David Savage; Aaron Smith; Odelia Rajanayagam; Robert K Semple; Jian'an Luan; Louise Bath; Anthony Zalin; Mourad Labib; Sudhesh Kumar; Helen Simpson; Dirk Blom; David Marais; John W R Schwabe; Inês Barroso; Richard C Trembath; Nicholas J Wareham; Laszlo Nagy; Mark Gurnell; Stephen O'Rahilly; Krishna Chatterjee
Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.
Cell metabolism 2006;4(4):303-11.
2006: Sarah L Gray; Edoardo Dalla Nora; Johannes Grosse; Monia Manieri; Tobias Stoeger; Gema Medina-Gomez; Keith Burling; Sigrid Wattler; Andreas Russ; Giles S H Yeo; V Krishna K Chatterjee; Stephen O'Rahilly; Peter J Voshol; Saverio Cinti; Antonio Vidal-Puig
Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor gamma function (P465L PPARgamma) in mice.
Diabetes 2006;55(10):2669-77.
2006: Guowen Cai; Shelley A Cole; Nancy F Butte; Carlos A Bacino; Vincent P Diego; Karen Tan; Harald HH Goring; Stephen O'Rahilly; I Sadaf Farooqi; Anthony G Comuzzie
A quantitative trait locus on chromosome 18q for physical activity and dietary intake in Hispanic children.
Obesity (Silver Spring, Md.) 2006;14(9):1596-604.
2006: I Sadaf Farooqi; Stenvert L S Drop; Agnes Clements; Julia M Keogh; Joanna Biernacka; Sarah Lowenbein; Benjamin G Challis; Stephen O'Rahilly
Heterozygosity for a POMC-null mutation and increased obesity risk in humans.
Diabetes 2006;55(9):2549-53.
2006: Anthony P Coll; Martin Fassnacht; Steffen Klammer; Stefanie Hahner; Dominik M Schulte; Sarah Piper; Y C Loraine Tung; Benjamin G Challis; Yacob Weinstein; Bruno Allolio; Stephen O'Rahilly; Felix Beuschlein
Peripheral administration of the N-terminal pro-opiomelanocortin fragment 1-28 to Pomc-/- mice reduces food intake and weight but does not affect adrenal growth or corticosterone production.
The Journal of endocrinology 2006;190(2):515-25.
2006: Robert K Semple; Maria A Soos; Jian'an Luan; C S Mitchell; J C Wilson; Mark Gurnell; Elaine Cochran; Phillip Gorden; V Krishna K Chatterjee; Nicholas J Wareham; Stephen O'Rahilly
Elevated plasma adiponectin in humans with genetically defective insulin receptors.
The Journal of clinical endocrinology and metabolism 2006;91(8):3219-23.
2006: Stephen O'Rahilly; I Sadaf Farooqi
Genetics of obesity.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2006;361(1471):1095-105.
2006: Stephen O'Rahilly; Nicholas J Wareham
Genetic variants and common diseases--better late than never.
The New England journal of medicine 2006;355(3):306-8.
2006: Constantinos Christodoulides; Matthias Laudes; Will P Cawthorn; Sven Schinner; Maria A Soos; Stephen O'Rahilly; Jaswinder Sethi; Antonio Vidal-Puig
The Wnt antagonist Dickkopf-1 and its receptors are coordinately regulated during early human adipogenesis.
Journal of cell science 2006;119(Pt 12):2613-20.
2006: Christopher J Groves; Eleftheria Zeggini; Mark Walker; Graham A Hitman; Jonathan C Levy; Stephen O'Rahilly; Andrew T Hattersley; Mark I McCarthy; Steven Wiltshire
Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate.
Diabetes 2006;55(6):1884-9.
2006: Miguel López; Christopher J Lelliott; Sulay Tovar; Wendy Kimber; Rosalía Gallego; Sam Virtue; Margaret Blount; María Jesús Vázquez; Nick Finer; Trevor J Powles; Stephen O'Rahilly; Asish K Saha; Carlos Diéguez; Antonio Vidal-Puig
Tamoxifen-induced anorexia is associated with fatty acid synthase inhibition in the ventromedial nucleus of the hypothalamus and accumulation of malonyl-CoA.
Diabetes 2006;55(5):1327-36.
2006: A Tuthill; H Slawik; Stephen O'Rahilly; Nick Finer
Psychiatric co-morbidities in patients attending specialist obesity services in the UK.
QJM : monthly journal of the Association of Physicians 2006;99(5):317-25.
2006: Constantinos Christodoulides; Alessandro Scarda; Marnie Granzotto; Gabriella Milan; Edoardo Dalla Nora; Julia Keogh; Giovanni de Pergola; H Stirling; Nicola Pannacciulli; Jaswinder Sethi; Giovanni Federspil; Antonio Vidal-Puig; I S Farooqi; Stephen O'Rahilly; Roberto Vettor
WNT10B mutations in human obesity.
Diabetologia 2006;49(4):678-84.
2006: Sumit Bhattacharyya; Jian'an Luan; Benjamin G Challis; Julia Keogh; Montague Carl; John Brennand; John Morten; Sarah Lowenbeim; Suzanne Jenkins; I Sadaf Farooqi; Nicholas J Wareham; Stephen O'Rahilly
Sequence variants in the melatonin-related receptor gene (GPR50) associate with circulating triglyceride and HDL levels.
Journal of lipid research 2006;47(4):761-6.
2006: Robert K Semple; V Krishna K Chatterjee; Stephen O'Rahilly
PPAR gamma and human metabolic disease.
The Journal of clinical investigation 2006;116(3):581-9.
2006: Inês Barroso; Jian'an Luan; Manjinder S Sandhu; Paul W Franks; Vivion E F Crowley; Alan J Schafer; Stephen O'Rahilly; Nicholas J Wareham
Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes.
Diabetologia 2006;49(3):501-5.
2006: Yung Seng Lee; Benjamin G Challis; Darren A Thompson; Giles S H Yeo; Julia M Keogh; Michael E Madonna; Vicki Wraight; Matthew Sims; Vincent Vatin; David Meyre; Julian Shield; Christine Burren; Zala Ibrahim; Tim Cheetham; Peter Swift; Anthea Blackwood; Chiao-Chien Connie Hung; Nicholas J Wareham; philippe froguel; Glenn L Millhauser; Stephen O'Rahilly; I Sadaf Farooqi
A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.
Cell metabolism 2006;3(2):135-40.
2006: A Kemal Topaloglu; Zhi-Liang Lu; I Sadaf Farooqi; Neslihan O Mungan; Bilgin Yuksel; Stephen O'Rahilly; Robert P Millar
Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene.
Neuroendocrinology 2006;84(5):301-8.
2006: Jørgen Jensen; Einar Jebens; Erlend O Brennesvik; Jérôme Ruzzin; Maria A Soos; Ellen M L Engebretsen; Stephen O'Rahilly; Jonathan P Whitehead
Muscle glycogen inharmoniously regulates glycogen synthase activity, glucose uptake, and proximal insulin signaling.
American journal of physiology. Endocrinology and metabolism 2006;290(1):E154-E162.
2005: Eleftheria Zeggini; Christopher J Groves; J R C Parkinson; Stephanie Halford; Katharine R Owen; Timothy M Frayling; Mark Walker; Graham A Hitman; Jonathan C Levy; Stephen O'Rahilly; Andrew T Hattersley; Mark I McCarthy
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.
2005: Paul W Franks; Jian'an Luan; Inês Barroso; Søren Brage; Jose Luis Gonzalez Sanchez; Ulf Ekelund; Manuel Serrano Ríos; Alan J Schafer; Stephen O'Rahilly; Nicholas J Wareham
Variation in the eNOS gene modifies the association between total energy expenditure and glucose intolerance.
Diabetes 2005;54(9):2795-801.
2005: Paul W Franks; Søren Brage; Jian'an Luan; Ulf Ekelund; Mushtaquar Rahman; I Sadaf Farooqi; Ian Halsall; Stephen O'Rahilly; Nicholas J Wareham
Leptin predicts a worsening of the features of the metabolic syndrome independently of obesity.
Obesity research 2005;13(8):1476-84.
2005: Anthony P Coll; Benjamin G Challis; Miguel López; Sarah Piper; Giles S H Yeo; Stephen O'Rahilly
Proopiomelanocortin-deficient mice are hypersensitive to the adverse metabolic effects of glucocorticoids.
Diabetes 2005;54(8):2269-76.
2005: Sarawut Jitrapakdee; Marc Slawik; Gema Medina-Gomez; Mark Campbell; John C Wallace; Jaswinder Sethi; Stephen O'Rahilly; Antonio Vidal-Puig
The peroxisome proliferator-activated receptor-gamma regulates murine pyruvate carboxylase gene expression in vivo and in vitro.
The Journal of biological chemistry 2005;280(29):27466-76.
2005: Christopher J Lelliott; Miguel López; R Keira Curtis; Nadeene Parker; Matthias Laudes; Giles Yeo; Mercedes Jimenez-Liñan; Johannes Grosse; Asish K Saha; David Wiggins; David Hauton; Martin D Brand; Stephen O'Rahilly; Julian L Griffin; Geoffrey F Gibbons; Antonio Vidal-Puig
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 journal : official publication of the Federation of American Societies for Experimental Biology 2005;19(9):1108-19.
2005: Gema Medina-Gomez; Sam Virtue; Christopher J Lelliott; Romina Boiani; Mark Campbell; Constantinos Christodoulides; Christophe Perrin; Mercedes Jimenez-Linan; Margaret Blount; Dixon John; Dirk Zahn; Rosemary R Thresher; Samuel A J R Aparicio; Mark Carlton; William H Colledge; Mikko I Kettunen; Tuulikki Seppänen-Laakso; Jaswinder Sethi; Stephen O'Rahilly; Kevin M Brindle; Saverio Cinti; Matej Oresic; Rémy Burcelin; Antonio Vidal-Puig
The link between nutritional status and insulin sensitivity is dependent on the adipocyte-specific peroxisome proliferator-activated receptor-gamma2 isoform.
Diabetes 2005;54(6):1706-16.
2005: Ulf Risérus; Garry D Tan; Barbara A Fielding; Matt J Neville; Jenny Currie; David B Savage; V Krishna K Chatterjee; Keith N Frayn; Stephen O'Rahilly; Fredrik Karpe
Rosiglitazone increases indexes of stearoyl-CoA desaturase activity in humans: link to insulin sensitization and the role of dominant-negative mutation in peroxisome proliferator-activated receptor-gamma.
Diabetes 2005;54(5):1379-84.
2005: Robert K Semple; Aline Meirhaeghe; Antonio Vidal-Puig; John W R Schwabe; David Wiggins; Geoffrey F Gibbons; Mark Gurnell; V Krishna K Chatterjee; Stephen O'Rahilly
A dominant negative human peroxisome proliferator-activated receptor (PPAR){alpha} is a constitutive transcriptional corepressor and inhibits signaling through all PPAR isoforms.
Endocrinology 2005;146(4):1871-82.
2005: David B Savage; Peter R Murgatroyd; V Krishna K Chatterjee; Stephen O'Rahilly
Energy expenditure and adaptive responses to an acute hypercaloric fat load in humans with lipodystrophy.
The Journal of clinical endocrinology and metabolism 2005;90(3):1446-52.
2005: Robert K Semple; J C Achermann; J Ellery; I Sadaf Farooqi; Fiona E Karet; Richard Stanhope; Stephen O'Rahilly; Samuel A J R Aparicio
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
The Journal of clinical endocrinology and metabolism 2005;90(3):1849-55.
2005: Stephen O'Rahilly; Inês Barroso; Nicholas J Wareham
Genetic factors in type 2 diabetes: the end of the beginning?
Science (New York, N.Y.) 2005;307(5708):370-3.
2005: I Sadaf Farooqi; Stephen O'Rahilly
Monogenic obesity in humans.
Annual review of medicine 2005;56():443-58.
2004: C F Liew; Christopher J Groves; Steven Wiltshire; Eleftheria Zeggini; Timothy M Frayling; Katharine R Owen; Mark Walker; Graham A Hitman; Jonathan C Levy; Stephen O'Rahilly; Andrew T Hattersley; Desmond G Johnston; Mark I McCarthy
Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism.
Diabetologia 2004;47(12):2168-75.
2004: Justin J Rochford; Robert K Semple; Matthias Laudes; Keith B Boyle; Constantinos Christodoulides; Claire Mulligan; Christopher J Lelliott; Sven Schinner; Dirk Hadaschik; Meera Mahadevan; Jaswinder Sethi; Antonio Vidal-Puig; Stephen O'Rahilly
ETO/MTG8 is an inhibitor of C/EBPbeta activity and a regulator of early adipogenesis.
Molecular and cellular biology 2004;24(22):9863-72.
2004: Anita Sarker; Robert K Semple; Sean F Dinneen; Stephen O'Rahilly; Steven C Martin
Severe hypo-alpha-lipoproteinemia during treatment with rosiglitazone.
Diabetes care 2004;27(11):2577-80.
2004: Giles S H Yeo; Chiao-Chien Connie Hung; Justin J Rochford; Julia Keogh; Juliette Gray; Shoba Sivaramakrishnan; Stephen O'Rahilly; I Sadaf Farooqi
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.
Nature neuroscience 2004;7(11):1187-9.
2004: Sumit Bhattacharyya; Jian'an Luan; I Sadaf Farooqi; Julia Keogh; Montague Carl; John Brennand; Lynn Jorde; Nicholas J Wareham; Stephen O'Rahilly
Studies of the neuromedin U-2 receptor gene in human obesity: evidence for the existence of two ancestral forms of the receptor.
The Journal of endocrinology 2004;183(1):115-20.
2004: William T Gibson; I Sadaf Farooqi; Mary Moreau; Alex M DePaoli; Elizabeth Lawrence; Stephen O'Rahilly; Rebecca A Trussell
Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.
The Journal of clinical endocrinology and metabolism 2004;89(10):4821-6.
2004: Anthony P Coll; Benjamin G Challis; Giles S H Yeo; Katherine Snell; Sarah J Piper; Halsall David; Rosemary R Thresher; Stephen O'Rahilly
The effects of proopiomelanocortin deficiency on murine adrenal development and responsiveness to adrenocorticotropin.
Endocrinology 2004;145(10):4721-7.
2004: Chiao-Chien Connie Hung; Fraser Pirie; Jian'an Luan; Emma Lank; Ayesha Motala; Giles S H Yeo; Julia M Keogh; Nicholas J Wareham; Stephen O'Rahilly; I Sadaf Farooqi
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.
2004: Edward D Javor; Stephanie Ann Moran; Janice Ryan Young; Elaine Cochran; Alex M DePaoli; Elif Arioglu Oral; Martin A Turman; Piers R Blackett; David B Savage; Stephen O'Rahilly; James E Balow; Phillip Gorden
Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy.
The Journal of clinical endocrinology and metabolism 2004;89(7):3199-207.
2004: William T Gibson; Barbara J Ebersole; Sumit Bhattacharyya; Peter Clayton; I Sadaf Farooqi; Stuart C Sealfon; Stephen O'Rahilly
Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity.
Canadian journal of physiology and pharmacology 2004;82(6):426-9.
2004: Anthony P Coll; I Sadaf Farooqi; Benjamin G Challis; Giles S H Yeo; Stephen O'Rahilly
Proopiomelanocortin and energy balance: insights from human and murine genetics.
The Journal of clinical endocrinology and metabolism 2004;89(6):2557-62.
2004: Anthony P Coll; Benjamin G Challis; Stephen O'Rahilly
Peptide YY3-36 and satiety: clarity or confusion?
Endocrinology 2004;145(6):2582-4.
2004: Stella George; Justin J Rochford; Christian Wolfrum; Sarah L Gray; Sven Schinner; Jenny C Wilson; Maria A Soos; Peter R Murgatroyd; Rachel M Williams; Carlo L Acerini; David D Dunger; David Barford; A Margot Umpleby; Nicholas J Wareham; Huw Alban Davies; Alan J Schafer; Markus Stoffel; Stephen O'Rahilly; Inês Barroso
A family with severe insulin resistance and diabetes due to a mutation in AKT2.
Science (New York, N.Y.) 2004;304(5675):1325-8.
2004: William T Gibson; Pavlos Pissios; Daniel Trombly; Jian'an Luan; Julia Keogh; Nicholas J Wareham; Eleftheria Maratos-Flier; Stephen O'Rahilly; I Sadaf Farooqi
Melanin-concentrating hormone receptor mutations and human obesity: functional analysis.
Obesity research 2004;12(5):743-9.
2004: David B Savage; Maria A Soos; A Powlson; Stephen O'Rahilly; Ian McFarlane; Halsall David; Inês Barroso; E Louise Thomas; J D Bell; I Scobie; P E Belchetz; W F Kelly; Alan J Schafer
Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene.
Diabetologia 2004;47(4):753-6.
2004: Stephen O'Rahilly; Giles S H Yeo; I Sadaf Farooqi
Melanocortin receptors weigh in.
Nature medicine 2004;10(4):351-2.
2004: Maura Agostini; Mark Gurnell; David B Savage; Emily M Wood; Aaron G Smith; Odelia Rajanayagam; Keith T Garnes; Sidney H Levinson; H Eric Xu; John W R Schwabe; Timothy M Willson; Stephen O'Rahilly; V Krishna K Chatterjee
Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gamma.
Endocrinology 2004;145(4):1527-38.
2004: Benjamin G Challis; Anthony P Coll; Giles S H Yeo; Scarlett B Pinnock; Suzanne Dickson; Rosemary R Thresher; Dixon John; Dirk Zahn; Justin J Rochford; A White; R L Oliver; George Millington; Samuel A J R Aparicio; William H Colledge; Andreas Russ; Mark B L Carlton; Stephen O'Rahilly
Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY(3-36).
Proceedings of the National Academy of Sciences of the United States of America 2004;101(13):4695-700.
2004: Matthias Laudes; Constantinos Christodoulides; Ciaran Sewter; Justin J Rochford; Robert V Considine; Jaswinder Sethi; Antonio Vidal-Puig; Stephen O'Rahilly
Role of the POZ zinc finger transcription factor FBI-1 in human and murine adipogenesis.
The Journal of biological chemistry 2004;279(12):11711-8.
2004: Matthias Laudes; Inês Barroso; Jian'an Luan; Maria A Soos; Giles Yeo; Aline Meirhaeghe; Lisa Logie; Antonio Vidal-Puig; Alan J Schafer; Nicholas J Wareham; Stephen O'Rahilly
Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes.
Diabetes 2004;53(3):842-6.
2004: Benjamin G Challis; Jian'an Luan; Julia Keogh; Nicholas J Wareham; I Sadaf Farooqi; Stephen O'Rahilly
Genetic variation in the corticotrophin-releasing factor receptors: identification of single-nucleotide polymorphisms and association studies with obesity in UK Caucasians.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 2004;28(3):442-6.
2004: Paul W Franks; Sumit Bhattacharyya; Jian'an Luan; Montague Carl; John Brennand; Benjamin G Challis; Søren Brage; Ulf Ekelund; Rita P S Middelberg; Stephen O'Rahilly; Nicholas J Wareham
Association between physical activity and blood pressure is modified by variants in the G-protein coupled receptor 10.
Hypertension 2004;43(2):224-8.
2004: I Sadaf Farooqi; Stephen O'Rahilly
Monogenic human obesity syndromes.
Recent progress in hormone research 2004;59():409-24.
2004: Paul W Franks; Jian'an Luan; P O Browne; Anne-Helen Harding; Stephen O'Rahilly; V Krishna K Chatterjee; Nicholas J Wareham
Does peroxisome proliferator-activated receptor gamma genotype (Pro12ala) modify the association of physical activity and dietary fat with fasting insulin level?
Metabolism: clinical and experimental 2004;53(1):11-6.
2004: Robert K Semple; Vivion Crowley; Ciaran Sewter; Matthias Laudes; Constantinos Christodoulides; Robert V Considine; Antonio Vidal-Puig; Stephen O'Rahilly
Expression of the thermogenic nuclear hormone receptor coactivator PGC-1alpha is reduced in the adipose tissue of morbidly obese subjects.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 2004;28(1):176-9.
2003: Patricia A Donohoue; Ya-Xiong Tao; Malia Collins; Giles S H Yeo; Stephen O'Rahilly; Deborah L Segaloff
Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.
The Journal of clinical endocrinology and metabolism 2003;88(12):5841-5.
2003: Paul W Franks; Inês Barroso; Jian'an Luan; Ulf Ekelund; Vivion E F Crowley; Søren Brage; Manjinder S Sandhu; Rupert W Jakes; Rita P S Middelberg; Anne-Helen Harding; Alan J Schafer; Stephen O'Rahilly; Nicholas J Wareham
PGC-1alpha genotype modifies the association of volitional energy expenditure with [OV0312]O2max.
Medicine and science in sports and exercise 2003;35(12):1998-2004.
2003: Benjamin G Challis; Scarlett B Pinnock; Anthony P Coll; Richard N Carter; Suzanne Dickson; Stephen O'Rahilly
Acute effects of PYY3-36 on food intake and hypothalamic neuropeptide expression in the mouse.
Biochemical and biophysical research communications 2003;311(4):915-9.
2003: Robert S Jackson; John W M Creemers; I Sadaf Farooqi; Marie-Laure Raffin-Sanson; Andrea Varro; Graham J Dockray; Jens J Holst; Patricia L Brubaker; Pierre Corvol; Kenneth S Polonsky; Diane Ostrega; Kenneth L Becker; Xavier Bertagna; John C Hutton; Anne White; Mehul T Dattani; Khalid Hussain; Stephen J Middleton; Thomasina M Nicole; Peter J Milla; Keith J Lindley; Stephen O'Rahilly
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
The Journal of clinical investigation 2003;112(10):1550-60.
2003: Stephanie B Seminara; Sophie Messager; Emmanouella E Chatzidaki; Rosemary R Thresher; James S Acierno; Jenna K Shagoury; Yousef Bo-Abbas; Wendy Kuohung; Kristine M Schwinof; Alan G Hendrick; Dirk Zahn; Dixon John; Ursula B Kaiser; Susan A Slaugenhaupt; James Gusella; Stephen O'Rahilly; Mark B L Carlton; William F Crowley; Samuel A J R Aparicio; William H Colledge
The GPR54 gene as a regulator of puberty.
The New England journal of medicine 2003;349(17):1614-27.
2003: Anil Agarwal; Vinaya Simha; Elif Arioglu Oral; Stephanie Ann Moran; Phillip Gorden; Stephen O'Rahilly; Zohra Zaidi; Figen Gurakan; Silva A Arslanian; Aharon Klar; Alyne Ricker; Neil H White; Lutz Bindl; Karen Herbst; Kurt Kennel; Shailendra Patel; Lihadh Al-Gazali; Abhimanyu Garg
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
The Journal of clinical endocrinology and metabolism 2003;88(10):4840-7.
2003: Inês Barroso; Jian'an Luan; Rita P S Middelberg; Anne-Helen Harding; Paul W Franks; Rupert W Jakes; D Clayton; Alan J Schafer; Stephen O'Rahilly; Nicholas J Wareham
Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.
PLoS biology 2003;1(1):E20.
2003: Stephen O'Rahilly; I Sadaf Farooqi; Giles S H Yeo; Benjamin G Challis
Minireview: human obesity-lessons from monogenic disorders.
Endocrinology 2003;144(9):3757-64.
2003: Ismaa S Farooqi; Giles S Yeo; Stephen O'Rahilly
Binge eating as a phenotype of melanocortin 4 receptor gene mutations.
The New England journal of medicine 2003;349(6):606-9; author reply 606-9.
2003: Paul W Franks; I Sadaf Farooqi; Jian'an Luan; Man-Yu Wong; Ian Halsall; Stephen O'Rahilly; Nicholas J Wareham
Does physical activity energy expenditure explain the between-individual variation in plasma leptin concentrations after adjusting for differences in body composition?
The Journal of clinical endocrinology and metabolism 2003;88(7):3258-63.
2003: Aline Meirhaeghe; Vivion Crowley; Carol Lenaghan; Christopher J Lelliott; Kath Green; Abigail Stewart; Kevin Hart; Sven Schinner; Jaswinder Sethi; Giles Yeo; Martin D Brand; Ronald N Cortright; Stephen O'Rahilly; Montague Carl; Antonio Vidal-Puig
Characterization of the human, mouse and rat PGC1 beta (peroxisome-proliferator-activated receptor-gamma co-activator 1 beta) gene in vitro and in vivo.
The Biochemical journal 2003;373(Pt 1):155-65.
2003: Mark Gurnell; David B Savage; V Krishna K Chatterjee; Stephen O'Rahilly
The metabolic syndrome: peroxisome proliferator-activated receptor gamma and its therapeutic modulation.
The Journal of clinical endocrinology and metabolism 2003;88(6):2412-21.
2003: Christopher J Groves; Steven Wiltshire; Damian Smedley; Katharine R Owen; Timothy M Frayling; Mark Walker; Graham A Hitman; Jonathan C Levy; Stephen O'Rahilly; Stephan Menzel; Andrew T Hattersley; Mark I McCarthy
Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility.
Diabetes 2003;52(5):1300-5.
2003: Sumit Bhattacharyya; Jian'an Luan; Benjamin G Challis; Catherine Schmitz; Paul Clarkson; Paul W Franks; Rita P S Middelberg; Julia Keogh; I Sadaf Farooqi; Montague Carl; John Brennand; Nicholas J Wareham; Stephen O'Rahilly
Association of polymorphisms in GPR10, the gene encoding the prolactin-releasing peptide receptor with blood pressure, but not obesity, in a U.K. Caucasian population.
Diabetes 2003;52(5):1296-9.
2003: David B Savage; Garry D Tan; Carlo L Acerini; Susan A Jebb; Maura Agostini; Mark Gurnell; Rachel L Williams; A Margot Umpleby; E Louise Thomas; Jimmy D Bell; Adrian K Dixon; Fidelma Dunne; Romina Boiani; Saverio Cinti; Antonio Vidal-Puig; Fredrik Karpe; V Krishna K Chatterjee; Stephen O'Rahilly
Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma.
Diabetes 2003;52(4):910-7.
2003: I Sadaf Farooqi; Julia M Keogh; Giles S H Yeo; Emma Lank; Tim Cheetham; Stephen O'Rahilly
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
The New England journal of medicine 2003;348(12):1085-95.
2003: Giles S H Yeo; Emma Lank; I Sadaf Farooqi; Julia Keogh; Benjamin G Challis; Stephen O'Rahilly
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):561-74.
2003: S George; A Johansen; Maria A Soos; Henrik B Mortensen; S Gammeltoft; Vladimir Saudek; Kenneth Siddle; L Hansen; Stephen O'Rahilly
Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject.
Endocrinology 2003;144(2):631-7.
2003: Andrea M Haqq; I Sadaf Farooqi; Stephen O'Rahilly; Diane D Stadler; Ronald G Rosenfeld; Katherine L Pratt; Stephen H LaFranchi; Jonathan Q Purnell
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.
The Journal of clinical endocrinology and metabolism 2003;88(1):174-8.
2002: Claire Mulligan; Justin J Rochford; Gareth Denyer; Richard Stephens; Giles Yeo; Thomas Freeman; Kenneth Siddle; Stephen O'Rahilly
Microarray analysis of insulin and insulin-like growth factor-1 (IGF-1) receptor signaling reveals the selective up-regulation of the mitogen heparin-binding EGF-like growth factor by IGF-1.
The Journal of biological chemistry 2002;277(45):42480-7.
2002: Atul Singhal; I Sadaf Farooqi; Tim J Cole; Stephen O'Rahilly; Mary S Fewtrell; Mia Kattenhorn; Alan Lucas; John Deanfield
Influence of leptin on arterial distensibility: a novel link between obesity and cardiovascular disease?
Circulation 2002;106(15):1919-24.
2002: I Sadaf Farooqi; Giuseppe Matarese; Graham M Lord; Julia M Keogh; Elizabeth Lawrence; J. CHIZO AGWU; Veronica Sanna; Susan A Jebb; Francesco Perna; Silvia Fontana; Robert I Lechler; Alex M DePaoli; Stephen O'Rahilly
Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.
The Journal of clinical investigation 2002;110(8):1093-103.
2002: Stephen O'Rahilly
Insights into obesity and insulin resistance from the study of extreme human phenotypes.
European journal of endocrinology / European Federation of Endocrine Societies 2002;147(4):435-41.
2002: D Berger; Inês Barroso; Maria A Soos; Giles Yeo; A J Schafer; Stephen O'Rahilly; Jonathan P Whitehead
Genetic variants of insulin receptor substrate-1 (IRS-1) in syndromes of severe insulin resistance. Functional analysis of Ala513Pro and Gly1158Glu IRS-1.
Diabetic medicine : a journal of the British Diabetic Association 2002;19(10):804-9.
2002: Ciaran Sewter; Fiona Blows; R Considine; Antonio Vidal-Puig; Stephen O'Rahilly
Differential effects of adiposity on peroxisomal proliferator-activated receptor gamma1 and gamma2 messenger ribonucleic acid expression in human adipocytes.
The Journal of clinical endocrinology and metabolism 2002;87(9):4203-7.
2002: Benjamin G Challis; Lynn E Pritchard; John W M Creemers; Jerome Delplanque; Julia M Keogh; Jian'an Luan; Nicholas J Wareham; Giles S H Yeo; Sumit Bhattacharyya; philippe froguel; Anne White; I Sadaf Farooqi; Stephen O'Rahilly
A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.
Human molecular genetics 2002;11(17):1997-2004.
2002: David B Savage; Maura Agostini; Inês Barroso; Mark Gurnell; Jian'an Luan; Aline Meirhaeghe; Anne-Helen Harding; Gudrun Ihrke; Odelia Rajanayagam; Maria A Soos; Stella George; Dirk Berger; E Louise Thomas; Jimmy D Bell; Karim Meeran; R J M Ross; Antonio Vidal-Puig; Nicholas J Wareham; Stephen O'Rahilly; V Krishna K Chatterjee; Alan J Schafer
Digenic inheritance of severe insulin resistance in a human pedigree.
Nature genetics 2002;31(4):379-84.
2002: Helen M Roche; Enda Noone; Ciaran Sewter; Siobhan Mc Bennett; David Savage; Mike joseph Gibney; Stephen O'Rahilly; Antonio Vidal-Puig
Isomer-dependent metabolic effects of conjugated linoleic acid: insights from molecular markers sterol regulatory element-binding protein-1c and LXRalpha.
Diabetes 2002;51(7):2037-44.
2002: Atul Singhal; I Sadaf Farooqi; Stephen O'Rahilly; Tim J Cole; Mary S Fewtrell; Alan Lucas
Early nutrition and leptin concentrations in later life.
The American journal of clinical nutrition 2002;75(6):993-9.
2002: David B Savage; Stephen O'Rahilly
Leptin: a novel therapeutic role in lipodystrophy.
The Journal of clinical investigation 2002;109(10):1285-6.
2002: Vivion E F Crowley; Giles S H Yeo; Stephen O'Rahilly
Obesity therapy: altering the energy intake-and-expenditure balance sheet.
Nature reviews. Drug discovery 2002;1(4):276-86.
2002: Ciaran Sewter; Dirk Berger; Robert V Considine; Gema Medina; Justin J Rochford; Theodore P Ciaraldi; Robert Henry; Lynis Dohm; Jeffrey S Flier; Stephen O'Rahilly; Antonio Vidal-Puig
Human obesity and type 2 diabetes are associated with alterations in SREBP1 isoform expression that are reproduced ex vivo by tumor necrosis factor-alpha.
Diabetes 2002;51(4):1035-41.
2002: Ciaran Sewter; Fiona Blows; Antonio Vidal-Puig; Stephen O'Rahilly
Regional differences in the response of human pre-adipocytes to PPARgamma and RXRalpha agonists.
Diabetes 2002;51(3):718-23.
2002: Terry P Combs; John A Wagner; Joel P Berger; Thomas W Doebber; Wen-Jun Wang; Bei B Zhang; Michael Tanen; Anders H Berg; Stephen O'Rahilly; David B Savage; Krishna Chatterjee; Stuart Weiss; Patrick J Larson; Keith M Gottesdiener; Barry J Gertz; Maureen J Charron; Philipp E Scherer; David E Moller
Induction of adipocyte complement-related protein of 30 kilodaltons by PPARgamma agonists: a potential mechanism of insulin sensitization.
Endocrinology 2002;143(3):998-1007.
2002: Christopher J Lelliott; Lisa Logie; Ciaran Sewter; Dirk Berger; Piyush Jani; Fiona Blows; Stephen O'Rahilly; Antonio Vidal-Puig
Lamin expression in human adipose cells in relation to anatomical site and differentiation state.
The Journal of clinical endocrinology and metabolism 2002;87(2):728-34.
2002: Steven Wiltshire; Timothy M Frayling; Andrew T Hattersley; Graham A Hitman; Mark Walker; Jonathan C Levy; Stephen O'Rahilly; Christopher J Groves; Stephan Menzel; Lon R Cardon; Mark I McCarthy
Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes.
American journal of human genetics 2002;70(2):543-6.
2001: Maria A Soos; J Jensen; R A Brown; Stephen O'Rahilly; Peter R Shepherd; Jonathan P Whitehead
Class II phosphoinositide 3-kinase is activated by insulin but not by contraction in skeletal muscle.
Archives of biochemistry and biophysics 2001;396(2):244-8.
2001: Aline Meirhaeghe; Jian'an Luan; P Selberg-Franks; Susie Hennings; Jo Mitchell; Halsall David; Stephen O'Rahilly; Nicholas J Wareham
The effect of the Gly16Arg polymorphism of the beta(2)-adrenergic receptor gene on plasma free fatty acid levels is modulated by physical activity.
The Journal of clinical endocrinology and metabolism 2001;86(12):5881-7.
2001: I Sadaf Farooqi; Julia M Keogh; S Kamath; S Jones; William T Gibson; R Trussell; Susan A Jebb; G Y Lip; Stephen O'Rahilly
Partial leptin deficiency and human adiposity.
Nature 2001;414(6859):34-5.
2001: Antonio Vidal-Puig; Stephen O'Rahilly
Resistin: a new link between obesity and insulin resistance?
Clinical endocrinology 2001;55(4):437-8.
2001: C Nugent; Johannes B Prins; Jonathan P Whitehead; D Savage; John Wentworth; V Krishna K Chatterjee; Stephen O'Rahilly
Potentiation of glucose uptake in 3T3-L1 adipocytes by PPAR gamma agonists is maintained in cells expressing a PPAR gamma dominant-negative mutant: evidence for selectivity in the downstream responses to PPAR gamma activation.
Molecular endocrinology (Baltimore, Md.) 2001;15(10):1729-38.
2001: David B Savage; Ciaran Sewter; E S Klenk; D G Segal; Antonio Vidal-Puig; Robert V Considine; Stephen O'Rahilly
Resistin / Fizz3 expression in relation to obesity and peroxisome proliferator-activated receptor-gamma action in humans.
Diabetes 2001;50(10):2199-202.
2001: Steven Wiltshire; Andrew T Hattersley; Graham A Hitman; Mark Walker; Jonathan C Levy; M Sampson; Stephen O'Rahilly; Timothy M Frayling; J I Bell; G Mark Lathrop; Amanda Bennett; R Dhillon; C Fletcher; Christopher J Groves; E Jones; P Prestwich; N Simecek; PV Rao; Marie Wishart; Gian Franco Bottazzo; R Foxon; S Howell; Damian Smedley; Lon R Cardon; Stephan Menzel; Mark I McCarthy
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.
American journal of human genetics 2001;69(3):553-69.
2001: Julie C Evans; Timothy M Frayling; Paul G Cassell; PJ Saker; Graham A Hitman; Mark Walker; Jonathan C Levy; Stephen O'Rahilly; PV Rao; A J Bennett; E C Jones; Stephan Menzel; P Prestwich; N Simecek; Marie Wishart; R Dhillon; C Fletcher; Ann Millward; Andrew G Demaine; T Wilkin; Y Horikawa; N J Cox; Graeme I Bell; Sian Ellard; Mark I McCarthy; Andrew T Hattersley
Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom.
American journal of human genetics 2001;69(3):544-52.
2001: CU Niesler; Johannes B Prins; Stephen O'Rahilly; Kenneth Siddle; Montague Carl
Adipose depot-specific expression of cIAP2 in human preadipocytes and modulation of expression by serum factors and TNFalpha.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 2001;25(7):1027-33.
2001: Amanda L Ogilvy-Stuart; Maria A Soos; S J Hands; M Y Anthony; David D Dunger; Stephen O'Rahilly
Hypoglycemia and resistance to ketoacidosis in a subject without functional insulin receptors.
The Journal of clinical endocrinology and metabolism 2001;86(7):3319-26.
2001: Stephen O'Rahilly
Uncoupling protein 2: Adiposity angel and diabetes devil?
Nature medicine 2001;7(7):770-2.
2001: Halsall David; Jian'an Luan; P Saker; S Huxtable; I Sadaf Farooqi; Julia Keogh; Nicholas J Wareham; Stephen O'Rahilly
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.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 2001;25(4):472-7.
2001: Birgitte Uraø; CU Niesler; Stephen O'Rahilly; Kenneth Siddle
Comparison of anti-apoptotic signalling by the insulin receptor and IGF-I receptor in preadipocytes and adipocytes.
Cellular signalling 2001;13(4):279-85.
2001: C Nugent; Johannes B Prins; Jonathan P Whitehead; John Wentworth; V Krishna K Chatterjee; Stephen O'Rahilly
Arachidonic acid stimulates glucose uptake in 3T3-L1 adipocytes by increasing GLUT1 and GLUT4 levels at the plasma membrane. Evidence for involvement of lipoxygenase metabolites and peroxisome proliferator-activated receptor gamma.
The Journal of biological chemistry 2001;276(12):9149-57.
2001: Jian'an Luan; P O Browne; Anne-Helen Harding; Halsall David; Stephen O'Rahilly; V Krishna K Chatterjee; Nicholas J Wareham
Evidence for gene-nutrient interaction at the PPARgamma locus.
Diabetes 2001;50(3):686-9.
2001: George Millington; Y C Loraine Tung; Adrian Hewson-Hughes; Stephen O'Rahilly; Suzanne Dickson
Differential effects of alpha-, beta- and gamma(2)-melanocyte-stimulating hormones on hypothalamic neuronal activation and feeding in the fasted rat.
Neuroscience 2001;108(3):437-45.
2000: EC Ledgerwood; Stephen O'Rahilly; M A Surani
The imprinted gene Peg3 is not essential for tumor necrosis factor alpha signaling.
Laboratory investigation; a journal of technical methods and pathology 2000;80(10):1509-11.
2000: I Sadaf Farooqi; M K Jones; M Evans; Stephen O'Rahilly; John R Hodges
Triple H syndrome: a novel autoimmune endocrinopathy characterized by dysfunction of the hippocampus, hair follicle, and hypothalamic-pituitary adrenal axis.
The Journal of clinical endocrinology and metabolism 2000;85(8):2644-8.
2000: Jonathan P Whitehead; Maria A Soos; R Aslesen; Stephen O'Rahilly; J Jensen
Contraction inhibits insulin-stimulated insulin receptor substrate-1/2-associated phosphoinositide 3-kinase activity, but not protein kinase B activation or glucose uptake, in rat muscle.
The Biochemical journal 2000;349 Pt 3():775-81.
2000: H Rau; M Kocova; Stephen O'Rahilly; Jonathan P Whitehead
Naturally occurring amino acid substitutions at Arg1174 in the human insulin receptor result in differential effects on receptor biosynthesis and hybrid formation, leading to discordant clinical phenotypes.
Diabetes 2000;49(7):1264-8.
2000: I Sadaf Farooqi; Giles S H Yeo; Julia M Keogh; S Aminian; Susan A Jebb; G Butler; Tim Cheetham; Stephen O'Rahilly
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
The Journal of clinical investigation 2000;106(2):271-9.
2000: I Sadaf Farooqi; Stephen O'Rahilly
Recent advances in the genetics of severe childhood obesity.
Archives of disease in childhood 2000;83(1):31-4.
2000: Antonio Vidal-Puig; Stephen O'Rahilly
Obesity and diabetes: an avalanche of new information.
Molecular medicine today 2000;6(6):221-3.
2000: Benjamin G Challis; Giles S H Yeo; I Sadaf Farooqi; Jian'an Luan; S Aminian; Halsall David; Julia M Keogh; Nicholas J Wareham; Stephen O'Rahilly
The CART gene and human obesity: mutational analysis and population genetics.
Diabetes 2000;49(5):872-5.
2000: JE Digby; Vivion E F Crowley; Ciaran Sewter; Jonathan P Whitehead; Johannes B Prins; Stephen O'Rahilly
Depot-related and thiazolidinedione-responsive expression of uncoupling protein 2 (UCP2) in human adipocytes.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 2000;24(5):585-92.
2000: KC Baynes; Caroline A Beeton; George Panayotou; R Stein; Maria A Soos; T Hansen; H Simpson; Stephen O'Rahilly; Peter R Shepherd; Jonathan P Whitehead
Natural variants of human p85 alpha phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity.
Diabetologia 2000;43(3):321-31.
2000: Timothy M Frayling; Mark I McCarthy; Mark Walker; Jonathan C Levy; Stephen O'Rahilly; Graham A Hitman; PV Rao; A J Bennett; E C Jones; Stephan Menzel; Sian Ellard; Andrew T Hattersley
No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians.
The Journal of clinical endocrinology and metabolism 2000;85(2):853-7.
2000: Giles S H Yeo; I Sadaf Farooqi; Benjamin G Challis; Robert S Jackson; Stephen O'Rahilly
The role of melanocortin signalling in the control of body weight: evidence from human and murine genetic models.
QJM : monthly journal of the Association of Physicians 2000;93(1):7-14.
2000: SJ Huxtable; PJ Saker; L Haddad; Mark Walker; Timothy M Frayling; Jonathan C Levy; Graham A Hitman; Stephen O'Rahilly; Andrew T Hattersley; Mark I McCarthy
Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles.
Diabetes 2000;49(1):126-30.
1999: Inês Barroso; Mark Gurnell; Vivion E F Crowley; Maura Agostini; John W R Schwabe; Maria A Soos; G L Maslen; T D Williams; H Lewis; Alan J Schafer; V Krishna K Chatterjee; Stephen O'Rahilly
Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.
Nature 1999;402(6764):880-3.
1999: Birgitte Uraø; R A Brown; Stephen O'Rahilly; P R Shepherd; Kenneth Siddle
The alpha-isoform of class II phosphoinositide 3-kinase is more effectively activated by insulin receptors than IGF receptors, and activation requires receptor NPEY motifs.
FEBS letters 1999;460(3):423-6.
1999: Birgitte Uraø; D L Cope; H E Kalloo-Hosein; AC Hayward; Jonathan P Whitehead; Stephen O'Rahilly; Kenneth Siddle
Differences in signaling properties of the cytoplasmic domains of the insulin receptor and insulin-like growth factor receptor in 3T3-L1 adipocytes.
The Journal of biological chemistry 1999;274(43):30864-73.
1999: Ciaran Sewter; JE Digby; Fiona Blows; J Prins; Stephen O'Rahilly
Regulation of tumour necrosis factor-alpha release from human adipose tissue in vitro.
The Journal of endocrinology 1999;163(1):33-8.
1999: I Sadaf Farooqi; Susan A Jebb; G Langmack; E Lawrence; C H Cheetham; Andrew M Prentice; Ieuan A Hughes; M A McCamish; Stephen O'Rahilly
Effects of recombinant leptin therapy in a child with congenital leptin deficiency.
The New England journal of medicine 1999;341(12):879-84.
1999: Abhimanyu Garg; R Wilson; Robert Barnes; Elif Arioglu; Z Zaidi; Figen Gurakan; Nurten Kocak; Stephen O'Rahilly; Simeon I Taylor; Shailendra Patel; Anne M Bowcock
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.
The Journal of clinical endocrinology and metabolism 1999;84(9):3390-4.
1999: H Rau; Barbara J Reaves; Stephen O'Rahilly; Jonathan P Whitehead
Truncated human leptin (delta133) associated with extreme obesity undergoes proteasomal degradation after defective intracellular transport.
Endocrinology 1999;140(4):1718-23.
1998: Johannes B Prins; EC Ledgerwood; P Ameloot; Peter Vandenabeele; PR Faraco; Nicholas A Bright; Stephen O'Rahilly; John R Bradley
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):329-40.
1998: EC Ledgerwood; Johannes B Prins; Nicholas A Bright; DR Johnson; K Wolfreys; Jordan S Pober; Stephen O'Rahilly; John R Bradley
Tumor necrosis factor is delivered to mitochondria where a tumor necrosis factor-binding protein is localized.
Laboratory investigation; a journal of technical methods and pathology 1998;78(12):1583-9.
1998: EC Ledgerwood; Johannes B Prins; Nicholas A Bright; DR Johnson; K Wolfreys; Jordan S Pober; Stephen O'Rahilly; John R Bradley
Tumour necrosis factor is trafficked to a mitochondrial tumour necrosis factor binding protein.
Biochemical Society transactions 1998;26(4):S316.
1998: J Prins; EC Ledgerwood; P Ameloot; Peter Vandenabeele; PR Faraco; Nicholas A Bright; Stephen O'Rahilly; J Bradley
Tumour necrosis factor induced autophagy and mitochondrial morphological abnormalities are mediated by TNFR-I and/or TNFR-II and do not invariably lead to cell death.
Biochemical Society transactions 1998;26(4):S314.
1998: Giles S H Yeo; I Sadaf Farooqi; S Aminian; Halsall David; R G Stanhope; Stephen O'Rahilly
A frameshift mutation in MC4R associated with dominantly inherited human obesity.
Nature genetics 1998;20(2):111-2.
1998: Montague Carl; Johannes B Prins; L Sanders; J Zhang; Ciaran Sewter; JE Digby; Christopher D Byrne; Stephen O'Rahilly
Depot-related gene expression in human subcutaneous and omental adipocytes.
Diabetes 1998;47(9):1384-91.
1998: Sadaf Farooqi; H Rau; J Whitehead; Stephen O'Rahilly
ob gene mutations and human obesity.
The Proceedings of the Nutrition Society 1998;57(3):471-5.
1998: Jonathan P Whitehead; Maria A Soos; R Jackson; V Tasic; M Kocova; Stephen O'Rahilly
Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.
Diabetes 1998;47(8):1362-4.
1998: Jonathan P Whitehead; PJ Humphreys; A Krook; R Jackson; A Hayward; H Lewis; Kenneth Siddle; Stephen O'Rahilly
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(5):837-9.
1998: K Dib; Jonathan P Whitehead; PJ Humphreys; Maria A Soos; KC Baynes; S Kumar; T Harvey; Stephen O'Rahilly
Impaired activation of phosphoinositide 3-kinase by insulin in fibroblasts from patients with severe insulin resistance and pseudoacromegaly. A disorder characterized by selective postreceptor insulin resistance.
The Journal of clinical investigation 1998;101(5):1111-20.
1998: K Kalidas; E Dow; PJ Saker; N Wareham; D Halsall; R S Jackson; S P Chan; S Gelding; Mark Walker; Eleni Kousta; Desmond G Johnston; Stephen O'Rahilly; Mark I McCarthy
Prohormone convertase 1 in obesity, gestational diabetes mellitus, and NIDDM: no evidence for a major susceptibility role.
Diabetes 1998;47(2):287-9.
1998: JE Digby; Montague Carl; Ciaran Sewter; L Sanders; W O Wilkison; Stephen O'Rahilly; Johannes B Prins
Thiazolidinedione exposure increases the expression of uncoupling protein 1 in cultured human preadipocytes.
Diabetes 1998;47(1):138-41.
1997: M Adams; Montague Carl; Johannes B Prins; J C Holder; S A Smith; L Sanders; JE Digby; Ciaran Sewter; Mitchell Lazar; V Krishna K Chatterjee; Stephen O'Rahilly
Activators of peroxisome proliferator-activated receptor gamma have depot-specific effects on human preadipocyte differentiation.
The Journal of clinical investigation 1997;100(12):3149-53.
1997: Johannes B Prins; CU Niesler; Clay Winterford; Nicholas A Bright; Kenneth Siddle; Stephen O'Rahilly; NI Walker; DP Cameron
Tumor necrosis factor-alpha induces apoptosis of human adipose cells.
Diabetes 1997;46(12):1939-44.
1997: A Krook; Jonathan P Whitehead; S P Dobson; Matthew R Griffiths; M Ouwens; C Baker; AC Hayward; S K Sen; J A Maassen; Kenneth Siddle; Jeremy M Tavaré; Stephen O'Rahilly
Two naturally occurring insulin receptor tyrosine kinase domain mutants provide evidence that phosphoinositide 3-kinase activation alone is not sufficient for the mediation of insulin's metabolic and mitogenic effects.
The Journal of biological chemistry 1997;272(48):30208-14.
1997: H E Kalloo-Hosein; Jonathan P Whitehead; Maria A Soos; Jeremy M Tavaré; Kenneth Siddle; Stephen O'Rahilly
Differential signaling to glycogen synthesis by the intracellular domain of the insulin versus the insulin-like growth factor-1 receptor. Evidence from studies of TrkC-chimeras.
The Journal of biological chemistry 1997;272(39):24325-32.
1997: KC Baynes; J Whitehead; A Krook; Stephen O'Rahilly
Molecular mechanisms of inherited insulin resistance.
QJM : monthly journal of the Association of Physicians 1997;90(9):557-62.
1997: Jonathan P Whitehead; PJ Humphreys; K Dib; J W Goding; Stephen O'Rahilly
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.
1997: Robert S Jackson; John W M Creemers; S Ohagi; Marie-Laure Raffin-Sanson; L Sanders; Montague Carl; John C Hutton; Stephen O'Rahilly
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.
Nature genetics 1997;16(3):303-6.
1997: Montague Carl; I Sadaf Farooqi; Jonathan P Whitehead; Maria A Soos; H Rau; Nicholas J Wareham; Ciaran Sewter; JE Digby; S N Mohammed; J A Hurst; C H Cheetham; A R Earley; A H Barnett; Johannes B Prins; Stephen O'Rahilly
Congenital leptin deficiency is associated with severe early-onset obesity in humans.
Nature 1997;387(6636):903-8.
1997: F K Zaidi; Nicholas J Wareham; Mark I McCarthy; J Holdstock; H Kalloo-Hosein; A Krook; Robert Swinn; Stephen O'Rahilly
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 : a journal of the British Diabetic Association 1997;14(3):228-34.
1997: Montague Carl; Johannes B Prins; L Sanders; JE Digby; Stephen O'Rahilly
Depot- and sex-specific differences in human leptin mRNA expression: implications for the control of regional fat distribution.
Diabetes 1997;46(3):342-7.
1997: P J Lee; Iain Cranston; Stephanie A Amiel; Stephen O'Rahilly; A A Green
Effect of metformin on glucose disposal and hyperinsulinaemia in a 14-year-old boy with acanthosis nigricans.
Hormone research 1997;48(2):88-92.
1996: A Krook; Stephen O'Rahilly
Homozygous mutation in the insulin receptor.
Clinical endocrinology 1996;45(2):237-8.
1996: A Krook; Maria A Soos; S Kumar; Kenneth Siddle; Stephen O'Rahilly
Functional activation of mutant human insulin receptor by monoclonal antibody.
Lancet 1996;347(9015):1586-90.
1996: A Krook; D E Moller; K Dib; Stephen O'Rahilly
Two naturally occurring mutant insulin receptors phosphorylate insulin receptor substrate-1 (IRS-1) but fail to mediate the biological effects of insulin. Evidence that IRS-1 phosphorylation is not sufficient for normal insulin action.
The Journal of biological chemistry 1996;271(12):7134-40.
1996: A Krook; Stephen O'Rahilly
Mutant insulin receptors in syndromes of insulin resistance.
Baillière's clinical endocrinology and metabolism 1996;10(1):97-122.
1995: Stephen O'Rahilly; H Gray; P J Humphreys; A Krook; Kenneth S Polonsky; A White; S Gibson; K Taylor; C Carr
Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function.
The New England journal of medicine 1995;333(21):1386-90.
1995: R A Swinn; Nicholas J Wareham; R Gregory; V Curling; P M Clark; K J Dalton; O M Edwards; Stephen O'Rahilly
Excessive secretion of insulin precursors characterizes and predicts gestational diabetes.
Diabetes 1995;44(8):911-5.
1995: A Krook; J A Bell; M E Robertson; L Brueton; Stephen O'Rahilly
Prenatal analysis of the insulin receptor gene in a family with leprechaunism.
Prenatal diagnosis 1995;15(7):669-71.
1995: H Gray; Stephen O'Rahilly
Toward improved glycemic control in diabetes. What's on the horizon?
Archives of internal medicine 1995;155(11):1137-42.
1995: H Gray; Tim Wreghitt; Irene Stratton; Graeme J M Alexander; R C Turner; Stephen O'Rahilly
High prevalence of hepatitis C infection in Afro-Caribbean patients with type 2 diabetes and abnormal liver function tests.
Diabetic medicine : a journal of the British Diabetic Association 1995;12(3):244-9.
1994: Stephen O'Rahilly; A Hattersley; A Vaag; H Gray
Insulin resistance as the major cause of impaired glucose tolerance: a self-fulfilling prophesy?
Lancet 1994;344(8922):585-9.
1994: A Krook; S Kumar; I Laing; A J Boulton; J A Wass; Stephen O'Rahilly
Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.
Diabetes 1994;43(3):357-68.
1993: J T Cook; R C Page; Stephen O'Rahilly; J Levy; Rury Holman; BA Barrow; Andrew T Hattersley; A G Shaw; james wainscoat; RC Turner
Availability of type II diabetic families for detection of diabetes susceptibility genes.
Diabetes 1993;42(10):1536-43.
1993: A Krook; L Brueton; Stephen O'Rahilly
Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism.
Lancet 1993;342(8866):277-8.
1993: Stephen O'Rahilly
Glucokinase and non-insulin-dependent diabetes.
Clinical endocrinology 1993;39(1):17-9.
1993: Andrew T Hattersley; PJ Saker; P Patel; Y M Dennis Lo; R Page; Stephen O'Rahilly; RC Turner; M A Permutt; james wainscoat
Linkage of maturity-onset diabetes of the young to the glucokinase gene--evidence of genetic heterogeneity.
Biochemical Society transactions 1993;21(1):24S.
1992: A Krook; Irene Stratton; Stephen O'Rahilly
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.
Human molecular genetics 1992;1(6):391-5.
1992: Stephen O'Rahilly; A Krook; R Morgan; A Rees; J S Flier; D E Moller
Insulin receptor and insulin-responsive glucose transporter (GLUT 4) mutations and polymorphisms in a Welsh type 2 (non-insulin-dependent) diabetic population.
Diabetologia 1992;35(5):486-9.
1992: Stephen O'Rahilly; D E Moller
Mutant insulin receptors in syndromes of insulin resistance.
Clinical endocrinology 1992;36(2):121-32.
1991: J T Cook; P P Patel; Anne Clark; Jo W M Höppener; Cornelis J M Lips; S Mosselman; Stephen O'Rahilly; R C Page; james wainscoat; RC Turner
Non-linkage of the islet amyloid polypeptide gene with type 2 (non-insulin-dependent) diabetes mellitus.
Diabetologia 1991;34(2):103-8.
1990: RC Turner; A S Rudenski; David R Matthews; Jonathan C Levy; Stephen O'Rahilly; J P Hosker
Application of structural model of glucose-insulin relations to assess beta-cell function and insulin sensitivity.
Hormone and metabolic research. Supplement series 1990;24():66-71.
1989: P Patel; S Mosselman; Jo W M Höppener; H S Jansz; Anne Clark; Stephen O'Rahilly; RC Turner; james wainscoat
An RFLP associated with insulinoma amyloid polypeptide locus (IAPP).
Nucleic acids research 1989;17(16):6758.
1989: Stephen O'Rahilly; P Patel; james wainscoat; RC Turner
Analysis of the HepG2/erythrocyte glucose transporter locus in a family with type 2 (non-insulin-dependent) diabetes and obesity.
Diabetologia 1989;32(4):266-9.
1989: Stephen O'Rahilly; P Patel; J S Wainscoat; RC Turner
Analysis of the pro-opiomelanocortin gene in non-insulin dependent diabetic families.
Diabetes research (Edinburgh, Scotland) 1989;10(3):125-8.
1988: Stephen O'Rahilly; R C Trembath; P Patel; D J Galton; RC Turner; J S Wainscoat
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(11):792-7.
1988: Stephen O'Rahilly; J S Wainscoat; RC Turner
Type 2 (non-insulin-dependent) diabetes mellitus. New genetics for old nightmares.
Diabetologia 1988;31(7):407-14.
1988: Stephen O'Rahilly; R C Turner; D R Matthews
Impaired pulsatile secretion of insulin in relatives of patients with non-insulin-dependent diabetes.
The New England journal of medicine 1988;318(19):1225-30.
1988: Stephen O'Rahilly; RC Turner
Early-onset type 2 diabetes vs maturity-onset diabetes of youth: evidence for the existence of two discrete diabetic syndromes.
Diabetic medicine : a journal of the British Diabetic Association 1988;5(3):224-9.
1988: RC Turner; A S Rudenski; J P Hosker; David R Matthews; Jonathan C Levy; Stephen O'Rahilly
CIGMA as a tool in the study of NIDDM.
Progress in clinical and biological research 1988;265():13-26.
1987: RC Turner; A S Rudenski; R R Holman; David R Matthews; Stephen O'Rahilly
Quantitative modelling of endocrine diseases as exemplified by diabetes.
Clinical endocrinology 1987;26(1):107-16.
1986: Stephen O'Rahilly; Z Nugent; A S Rudenski; J P Hosker; M A Burnett; P Darling; RC Turner
Beta-cell dysfunction, rather than insulin insensitivity, is the primary defect in familial type 2 diabetes.
Lancet 1986;2(8503):360-4.
1986: RC Turner; R R Holman; David R Matthews; Stephen O'Rahilly; A S Rudenski; W J Braund
Diabetes nomenclature: classification or grading of severity?
Diabetic medicine : a journal of the British Diabetic Association 1986;3(3):216-20.