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Journal Articles

“Treasure Your Exceptions”—Studying Human Extreme Phenotypes to Illuminate Metabolic Health and Disease: The 2019 Banting Medal for Scientific Achievement Lecture

Stephen O’Rahilly
Journal: Diabetes
Diabetes 2021;70(1):29–38
https://doi.org/10.2337/dbi19-0037
Published: 15 December 2020
View article titled, “Treasure Your Exceptions”—Studying Human Extreme Phenotypes to Illuminate Metabolic Health and Disease: The 2019 Banting Medal for Scientific Achievement Lecture
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Meeting Abstracts

Efficacy of Metreleptin for Weight Loss in Overweight and Obese Adults with Low Leptin Levels

ALEX DEPAOLI, ALISON LONG, GREGORY M. FINE, MURRAY STEWART, STEPHEN O'RAHILLY
Journal: Diabetes
Diabetes 2018;67(Supplement_1):296-LB
https://doi.org/10.2337/db18-296-LB
Published: 01 July 2018
View article titled, Efficacy of Metreleptin for Weight Loss in Overweight and Obese Adults with Low Leptin Levels
Journal Articles

A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations

Maura Agostini, Erik Schoenmakers, Junaid Beig, Louise Fairall, Istvan Szatmari, Odelia Rajanayagam, Frederick W. Muskett, Claire Adams, A. David Marais, Stephen O’Rahilly, Robert K. Semple, Laszlo Nagy, Amit R. Majithia, John W.R. Schwabe, Dirk J. Blom, Rinki Murphy, Krishna Chatterjee, David B. Savage
Journal: Diabetes
Diabetes 2018;67(6):1086–1092
https://doi.org/10.2337/db17-1236
Published: 05 April 2018
View article titled, A Pharmacogenetic Approach to the Treatment of Patients With <em>PPARG</em> Mutations
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Includes: Supplementary data
Journal Articles

Clinical and Molecular Characterization of a Novel PLIN1 Frameshift Mutation Identified in Patients With Familial Partial Lipodystrophy

Kristina Kozusko, Venessa H.M. Tsang, William Bottomley, Yoon-Hi Cho, Sheetal Gandotra, Michael Mimmack, Koini Lim, Iona Isaac, Satish Patel, Vladimir Saudek, Stephen O’Rahilly, Shubha Srinivasan, Jerry R. Greenfield, Ines Barroso, Lesley V. Campbell, David B. Savage
Journal: Diabetes
Diabetes 2015;64(1):299–310
https://doi.org/10.2337/db14-0104
Published: 11 August 2014
View article titled, Clinical and Molecular Characterization of a Novel PLIN1 Frameshift Mutation Identified in Patients With Familial Partial Lipodystrophy
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Includes: Supplementary data
Journal Articles

Differential Lipid Partitioning Between Adipocytes and Tissue Macrophages Modulates Macrophage Lipotoxicity and M2/M1 Polarization in Obese Mice

Xavier Prieur, Crystal Y.L. Mok, Vidya R. Velagapudi, Vanessa Núñez, Lucía Fuentes, David Montaner, Ko Ishikawa, Alberto Camacho, Nuria Barbarroja, Stephen O’Rahilly, Jaswinder K. Sethi, Joaquin Dopazo, Matej Orešič, Mercedes Ricote, Antonio Vidal-Puig
Journal: Diabetes
Diabetes 2011;60(3):797–809
https://doi.org/10.2337/db10-0705
Published: 21 February 2011
View article titled, Differential Lipid Partitioning Between Adipocytes and Tissue Macrophages Modulates Macrophage Lipotoxicity and M2/M1 Polarization in Obese Mice
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Includes: Supplementary data
Journal Articles

Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

Isabel Huang-Doran, Louise S. Bicknell, Francis M. Finucane, Nuno Rocha, Keith M. Porter, Y.C. Loraine Tung, Ferenc Szekeres, Anna Krook, John J. Nolan, Mark O’Driscoll, Michael Bober, Stephen O’Rahilly, Andrew P. Jackson, Robert K. Semple, for the Majewski Osteodysplastic Primordial Dwarfism Study Group
Journal: Diabetes
Diabetes 2011;60(3):925–935
https://doi.org/10.2337/db10-1334
Published: 21 February 2011
View article titled, Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
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Includes: Supplementary data
Journal Articles

Prevalence of Loss-of-Function FTO Mutations in Lean and Obese Individuals

David Meyre, Karine Proulx, Hiroko Kawagoe-Takaki, Vincent Vatin, Ruth Gutiérrez-Aguilar, Debbie Lyon, Marcella Ma, Helene Choquet, Fritz 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
Journal: Diabetes
Diabetes 2010;59(1):311–318
https://doi.org/10.2337/db09-0703
Published: 15 October 2009
View article titled, Prevalence of Loss-of-Function <em>FTO</em> Mutations in Lean and Obese Individuals
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Includes: Supplementary data
Journal Articles

An Appreciation of Robert Turner

Stephen O'Rahilly, Gordon C. Weir, David R. Matthews
Journal: Diabetes
Diabetes 2008;57(11):2918–2921
https://doi.org/10.2337/db07-1644
Published: 01 November 2008
View article titled, An Appreciation of Robert Turner
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Journal Articles

Human Obesity: A Heritable Neurobehavioral Disorder That Is Highly Sensitive to Environmental Conditions

Stephen O'Rahilly, I. Sadaf Farooqi
Journal: Diabetes
Diabetes 2008;57(11):2905–2910
https://doi.org/10.2337/db08-0210
Published: 01 November 2008
View article titled, Human Obesity: A Heritable Neurobehavioral Disorder That Is Highly Sensitive to Environmental Conditions
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Journal Articles

Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees

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
Journal: Diabetes
Diabetes 2008;57(9):2511–2518
https://doi.org/10.2337/db08-0153
Published: 01 September 2008
View article titled, Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees
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Includes: Supplementary data
Journal Articles

Evaluating the Role of LPIN1 Variation in Insulin Resistance, Body Weight, and Human Lipodystrophy in U.K. Populations

Katherine A. Fawcett, Neil Grimsey, Ruth J.F. Loos, Eleanor Wheeler, Allan Daly, Maria Soos, Robert Semple, Holly Syddall, Cyrus Cooper, Symeon Siniossoglou, Stephen O'Rahilly, Nicholas J. Wareham, Inês Barroso
Journal: Diabetes
Diabetes 2008;57(9):2527–2533
https://doi.org/10.2337/db08-0422
Published: 01 September 2008
View article titled, Evaluating the Role of <em>LPIN1</em> Variation in Insulin Resistance, Body Weight, and Human Lipodystrophy in U.K. Populations
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Includes: Supplementary data
Journal Articles

The Human Lipodystrophy Gene BSCL2/Seipin May Be Essential for Normal Adipocyte Differentiation

Victoria A. Payne, Neil Grimsey, Antoinette Tuthill, Sam Virtue, Sarah L. Gray, Edoardo Dalla Nora, Robert K. Semple, Stephen O'Rahilly, Justin J. Rochford
Journal: Diabetes
Diabetes 2008;57(8):2055–2060
https://doi.org/10.2337/db08-0184
Published: 01 August 2008
View article titled, The Human Lipodystrophy Gene <em>BSCL2/Seipin</em> May Be Essential for Normal Adipocyte Differentiation
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Includes: Supplementary data
Journal Articles

Activation of Peroxisome Proliferator–Activated Receptor (PPAR)δ Promotes Reversal of Multiple Metabolic Abnormalities, Reduces Oxidative Stress, and Increases Fatty Acid Oxidation in Moderately Obese Men

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
Journal: Diabetes
Diabetes 2008;57(2):332–339
https://doi.org/10.2337/db07-1318
Published: 01 February 2008
View article titled, Activation of Peroxisome Proliferator–Activated Receptor (PPAR)δ Promotes Reversal of Multiple Metabolic Abnormalities, Reduces Oxidative Stress, and Increases Fatty Acid Oxidation in Moderately Obese Men
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Includes: Supplementary data
Journal Articles

TCF7L2 Polymorphisms Modulate Proinsulin Levels and β-Cell Function in a British Europid Population

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
Journal: Diabetes
Diabetes 2007;56(7):1943–1947
https://doi.org/10.2337/db07-0055
Published: 01 July 2007
View article titled, TCF7L2 Polymorphisms Modulate Proinsulin Levels and β-Cell Function in a British Europid Population
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Includes: Supplementary data
Journal Articles

Paradoxical Elevation of High–Molecular Weight Adiponectin in Acquired Extreme Insulin Resistance Due to Insulin Receptor Antibodies

Robert K. Semple, Nils H. Halberg, Keith Burling, Maria A. Soos, Todd Schraw, Jian'an Luan, Elaine K. Cochran, David B. Dunger, Nicholas J. Wareham, Philipp E. Scherer, Phillip Gorden, Stephen O'Rahilly
Journal: Diabetes
Diabetes 2007;56(6):1712–1717
https://doi.org/10.2337/db06-1665
Published: 01 June 2007
View article titled, Paradoxical Elevation of High–Molecular Weight Adiponectin in Acquired Extreme Insulin Resistance Due to Insulin Receptor Antibodies
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Journal Articles

Pharmacological Inhibition of Glucosylceramide Synthase Enhances Insulin Sensitivity

Johannes M. Aerts, Roelof Ottenhoff, Andrew S. Powlson, Aldo Grefhorst, Marco van Eijk, Peter F. Dubbelhuis, Jan Aten, Folkert Kuipers, Mireille J. Serlie, Tom Wennekes, Jaswinder K. Sethi, Stephen O'Rahilly, Hermen S. Overkleeft
Journal: Diabetes
Diabetes 2007;56(5):1341–1349
https://doi.org/10.2337/db06-1619
Published: 01 May 2007
View article titled, Pharmacological Inhibition of Glucosylceramide Synthase Enhances Insulin Sensitivity
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Includes: Supplementary data
Journal Articles

Lamin A/C Polymorphisms, Type 2 Diabetes, and the Metabolic Syndrome: Case-Control and Quantitative Trait Studies

José L. Mesa, Ruth J.F. Loos, Paul W. Franks, Ken K. Ong, Jian’an Luan, Stephen O’Rahilly, Nicholas J. Wareham, Inês Barroso
Journal: Diabetes
Diabetes 2007;56(3):884–889
https://doi.org/10.2337/db06-1055
Published: 01 March 2007
View article titled, Lamin A/C Polymorphisms, Type 2 Diabetes, and the Metabolic Syndrome: <subtitle>Case-Control and Quantitative Trait Studies</subtitle>
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Includes: Supplementary data
Journal Articles

Analysis of Genetic Variation in Akt2/PKB-β in Severe Insulin Resistance, Lipodystrophy, Type 2 Diabetes, and Related Metabolic Phenotypes

Karen Tan, Wendy A. Kimber, Jian’an Luan, Maria A. Soos, Robert K. Semple, Nicholas J. Wareham, Stephen O’Rahilly, Inês Barroso
Journal: Diabetes
Diabetes 2007;56(3):714–719
https://doi.org/10.2337/db06-0921
Published: 01 March 2007
View article titled, Analysis of Genetic Variation in Akt2/PKB-β in Severe Insulin Resistance, Lipodystrophy, Type 2 Diabetes, and Related Metabolic Phenotypes
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Includes: Supplementary data
Journal Articles

Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene

Juliette Gray, Giles S.H. Yeo, James J. 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
Journal: Diabetes
Diabetes 2006;55(12):3366–3371
https://doi.org/10.2337/db06-0550
Published: 01 December 2006
View article titled, Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (<em>BDNF</em>) Gene
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Includes: Supplementary data
Journal Articles

Leptin Deficiency Unmasks the Deleterious Effects of Impaired Peroxisome Proliferator–Activated Receptor γ Function (P465L PPARγ) in Mice

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 Chatterjee, Stephen O’Rahilly, Peter J. Voshol, Saverio Cinti, Antonio Vidal-Puig
Journal: Diabetes
Diabetes 2006;55(10):2669–2677
https://doi.org/10.2337/db06-0389
Published: 01 October 2006
View article titled, Leptin Deficiency Unmasks the Deleterious Effects of Impaired Peroxisome Proliferator–Activated Receptor γ Function (P465L PPARγ) in Mice
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Includes: Supplementary data