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Stephen O'Rahilly
Researcher at University of Cambridge
Publications - 537
Citations - 81904
Stephen O'Rahilly is an academic researcher from University of Cambridge. The author has contributed to research in topics: Insulin resistance & Insulin. The author has an hindex of 138, co-authored 520 publications receiving 75686 citations. Previous affiliations of Stephen O'Rahilly include Dana Corporation & University of Oxford.
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Journal ArticleDOI
Depot-related gene expression in human subcutaneous and omental adipocytes
C. T. Montague,Johannes B. Prins,Louise Sanders,Junlong Zhang,C. P. Sewter,JE Digby,Christopher D. Byrne,Stephen O'Rahilly +7 more
TL;DR: Of the mRNAs examined to date, only leptin and cIAP2 show consistent site-related expression, suggesting that these molecules may have important roles in determining functional properties particular to individual adipose depots.
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Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in β-Cell Function as Well as Insulin Action
Inês Barroso,Jian'an Luan,Rita P.S. Middelberg,Anne Helen Harding,Paul W. Franks,Rupert W Jakes,David Clayton,Alan J. Schafer,Stephen O'Rahilly,Nicholas J. Wareham +9 more
TL;DR: The genetic complexity of Type 2 diabetes is confirmed and evidence that common variants in genes influencing pancreatic β-cell function may make a significant contribution to the inherited component of this disease is provided.
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A genome-wide association meta-analysis identifies new childhood obesity loci
Jonathan P. Bradfield,H R Taal,Nicholas J. Timpson,André Scherag,C. Lecoeur,Nicole M. Warrington,Elina Hyppönen,Claus Holst,Beatriz Valcarcel,Elisabeth Thiering,Rany M. Salem,Fredrick R. Schumacher,Diana L. Cousminer,Pma Sleiman,Jianhua Zhao,Robert I. Berkowitz,Karani Santhanakrishnan Vimaleswaran,Ivonne Jarick,Craig E. Pennell,David M. Evans,B. St Pourcain,Diane J. Berry,Dennis O. Mook-Kanamori,Albert Hofman,Fernando Rivadeneira,André G. Uitterlinden,C M van Duijn,Rjp van der Valk,J. C. de Jongste,D. S. Postma,Dorret I. Boomsma,W. J. Gauderman,Mohamed T. Hassanein,Cecilia M. Lindgren,Reedik Mägi,Reedik Mägi,Cag Boreham,Charlotte E. Neville,Luis A. Moreno,Paul Elliott,A Pouta,A.-L. Hartikainen,Mingyao Li,Olli T. Raitakari,Terho Lehtimäki,Johan G. Eriksson,Aarno Palotie,Jean Dallongeville,Shikta Das,Panagiotis Deloukas,George McMahon,Susan M. Ring,John P. Kemp,Jessica L. Buxton,Aif Blakemore,Mariona Bustamante,Mònica Guxens,Joel N. Hirschhorn,Matthew W. Gillman,Eskil Kreiner-Møller,Hans Bisgaard,Frank D. Gilliland,Joachim Heinrich,Eleanor Wheeler,Inês Barroso,Inês Barroso,Stephen O'Rahilly,Aline Meirhaeghe,Tia Sorensen,Chris Power,Lyle J. Palmer,Anke Hinney,E. Widen,I. S. Farooqi,Mark I. McCarthy,Philippe Froguel,Philippe Froguel,David Meyre,David Meyre,Johannes Hebebrand,M-R Jarvelin,Vwv Jaddoe,George Davey Smith,Hakon Hakonarson,Sfa Grant +84 more
TL;DR: A North American, Australian and European collaborative meta-analysis of 14 studies consisting of 5,530 cases and 8,318 controls of European ancestry observed two loci that yielded genome-wide significant combined P values near OLFM4 at 13q14 and within HOXB5 at 17q21, which yielded directionally consistent associations.
Journal ArticleDOI
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.
Chong Ae Kim,Marc Delepine,Emilie Boutet,Haquima El Mourabit,Soazig Le Lay,Muriel Meier,Mona Nemani,Etienne Bridel,Claudia da Costa Leite,Débora Romeo Bertola,Robert K. Semple,Stephen O'Rahilly,Isabelle Dugail,Jacqueline Capeau,Mark Lathrop,Jocelyne Magré +15 more
TL;DR: Findings identify CAV1 as a new BSCL-related gene and support a critical role for caveolins in human adipocyte function, which is a key structural component of plasma membrane caveolae, and Cav1-deficient mice display progressive loss of adipose tissue and insulin resistance.
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Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
Sarah Boissel,Orit Reish,Karine Proulx,Hiroko Kawagoe-Takaki,Barbara Sedgwick,Giles S.H. Yeo,David Meyre,Christelle Golzio,Florence Molinari,Noman Kadhom,Heather C. Etchevers,Vladimir Saudek,I. Sadaf Farooqi,Philippe Froguel,Philippe Froguel,Tomas Lindahl,Stephen O'Rahilly,Arnold Munnich,Laurence Colleaux +18 more
TL;DR: It is shown that a R316Q mutation, inactivating FTO enzymatic activity, is responsible for an autosomal-recessive lethal syndrome and that a mutation in a human member of the AlkB-related dioxygenase family results in a severe polymalformation syndrome.