User profiles for S. O'Rahilly

sir stephen o'rahilly

university of cambridge
Verified email at medschl.cam.ac.uk
Cited by 171653

[HTML][HTML] Congenital leptin deficiency is associated with severe early-onset obesity in humans

…, AR Earley#, AH Barnett, JB Prins, S O'Rahilly - Nature, 1997 - nature.com
The extreme obesity of the obese (ob/ob) mouse is attributable to mutations in the gene
encoding leptin 1 , an adipocyte-specific secreted protein which has profound effects on appetite …

[HTML][HTML] The GPR54 Gene as a Regulator of Puberty

…, JF Gusella, S O'Rahilly… - … England Journal of …, 2003 - Mass Medical Soc
Background Puberty, a complex biologic process involving sexual development, accelerated
linear growth, and adrenal maturation, is initiated when gonadotropin-releasing hormone …

[HTML][HTML] Effects of recombinant leptin therapy in a child with congenital leptin deficiency

…, IA Hughes, MA McCamish, S O'Rahilly - New England journal …, 1999 - Mass Medical Soc
Severely obese (ob/ob) mice are deficient in the adipocyte-derived hormone leptin, which
acts on the hypothalamus to control appetite and energy expenditure. The administration of …

[HTML][HTML] Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency

…, RI Lechler, AM DePaoli, S O'rahilly - The Journal of …, 2002 - Am Soc Clin Investig
The wide range of phenotypic abnormalities seen in the leptin-deficient ob/ob mouse and
their reversibility by leptin administration provide compelling evidence for the existence of …

The Obesity-Associated FTO Gene Encodes a 2-Oxoglutarate-Dependent Nucleic Acid Demethylase

…, T Lindahl, CP Ponting, FM Ashcroft, S O'Rahilly… - Science, 2007 - science.org
Variants in the FTO (fat mass and obesity associated) gene are associated with increased
body mass index in humans. Here, we show by bioinformatics analysis that FTO shares …

Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension

…, H Lewis, AJ Schafer, VKK Chatterjee, S O'Rahilly - Nature, 1999 - nature.com
Thiazolidinediones are a new class of antidiabetic agent that improve insulin sensitivity and
reduce plasma glucose and blood pressure in subjects with type 2 diabetes 1. Although …

Common variants near MC4R are associated with fat mass, weight and risk of obesity

…, AR Ness, MJ Neville, AC Nica, KK Ong, S O'Rahilly… - Nature …, 2008 - nature.com
To identify common variants influencing body mass index (BMI), we analyzed genome-wide
association data from 16,876 individuals of European descent. After previously reported …

[HTML][HTML] Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene

…, EJ Lank, T Cheetham, S O'Rahilly - … England Journal of …, 2003 - Mass Medical Soc
Background Melanocortin 4 receptor (MC4R) deficiency is the commonest monogenic form
of obesity. However, the clinical spectrum and mode of inheritance have not been defined, …

A frameshift mutation in MC4R associated with dominantly inherited human obesity

…, S Aminian, DJ Halsall, RG Stanhope, S O'Rahilly - Nature …, 1998 - nature.com
… The PCR was performed using BioTaq (Bioline) and carried out under standard conditions,
with 35 cycles of 95 C for 30 s, 57 C for 30 s and 72 C for 50 s. Six nested primers, MC4F1 (5'-…

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

…, L Sanders, CT Montague, JC Hutton, S O'Rahilly - Nature …, 1997 - nature.com
… Reactions were cycled forty times, at 94 C for 30 s, 58 C for 30 s and 75 C for 50 s. PCR products
O'Rahilly, S. etal. Impaired processing of prohormones associated with abnormalities of …