O’Rahilly, Stephen

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

Farooqi, I. S., Matarese, G., Lord, G. M., Keogh, J. M., Lawrence, E., Agwu, C., Sanna, V., Jebb, S. A., Perna, F., Fontana, S., et al. (2002) · Journal of Clinical Investigation

Regulation of Appetite and ObesityAdipokines, Inflammation, and Metabolic Diseases

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The genetic architecture of type 2 diabetes

Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,051

Mapping the proteo-genomic convergence of human diseases

Pietzner, M., Wheeler, E., Carrasco-Zanini, J., Cortes, A., Koprulu, M., Wörheide, M. A., Oerton, E., Cook, J., Stewart, I. D., Kerrison, N. D., et al. (2021) · Science

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

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Large, rare chromosomal deletions associated with severe early-onset obesity

Bochukova, E. G., Huang, N., Keogh, J., Henning, E., Purmann, C., Blaszczyk, K., Saeed, S., Hamilton-Shield, J., Clayton-Smith, J., O’Rahilly, S., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

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GDF15 mediates the effects of metformin on body weight and energy balance

Coll, A. P., Chen, M., Taskar, P., Rimmington, D., Patel, S., Tadross, J. A., Cimino, I., Yang, M., Welsh, P., Virtue, S., et al. (2020) · Nature

GDF15 and Related BiomarkersRegulation of Appetite and Obesity

Cited by 584

Genetics of Obesity in Humans

Farooqi, I. S., & O’Rahilly, S. (2006) · Endocrine Reviews

Regulation of Appetite and ObesityHypothalamic control of reproductive hormones

Cited by 583

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

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GDF15 Provides an Endocrine Signal of Nutritional Stress in Mice and Humans

Patel, S., Alvarez-Guaita, A., Melvin, A., Rimmington, D., Dattilo, A., Miedzybrodzka, E. L., Cimino, I., Maurin, A.-C., Roberts, G. P., Meek, C. L., et al. (2019) · Cell Metabolism

GDF15 and Related BiomarkersRegulation of Appetite and Obesity

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Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis

Lotta, L. A., Scott, R. A., Sharp, S. J., Burgess, S., Luan, J., Tillin, T., Schmidt, A. F., Imamura, F., Stewart, I. D., Perry, J. R. B., et al. (2016) · PLOS Medicine

Genetic Associations and EpidemiologyDiabetes, Cardiovascular Risks, and Lipoproteins

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The central melanocortin system directly controls peripheral lipid metabolism

Nogueiras, R., Wiedmer, P., Perez-Tilve, D., Veyrat-Durebex, C., Keogh, J. M., Sutton, G. M., Pfluger, P. T., Castaneda, T. R., Neschen, S., Hofmann, S. M., et al. (2007) · Journal of Clinical Investigation

Regulation of Appetite and ObesityAdipose Tissue and Metabolism

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Association Between Low-Density Lipoprotein Cholesterol–Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis

Lotta, L. A., Sharp, S. J., Burgess, S., Perry, J. R. B., Stewart, I. D., Willems, S. M., Luan, J., Ardanaz, E., Arriola, L., Balkau, B., et al. (2016) · JAMA

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

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

Prieur, X., Mok, C. Y. L., Velagapudi, V. R., Núñez, V., Fuentes, L., Montaner, D., Ishikawa, K., Camacho, A., Barbarroja, N., O’Rahilly, S., et al. (2011) · Diabetes

Adipokines, Inflammation, and Metabolic DiseasesImmune cells in cancer

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Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements

Grundberg, E., Meduri, E., Sandling, J. K., Hedman, Å. K., Keildson, S., Buil, A., Busche, S., Yuan, W., Nisbet, J., Sekowska, M., et al. (2013) · The American Journal of Human Genetics

Epigenetics and DNA MethylationGenetic Associations and Epidemiology

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The energy balance model of obesity: beyond calories in, calories out

Hall, K. D., Farooqi, I. S., Friedman, J. M., Klein, S., Loos, R. J., Mangelsdorf, D. J., O’Rahilly, S., Ravussin, E., Redman, L. M., Ryan, D. H., et al. (2022) · The American Journal of Clinical Nutrition

Regulation of Appetite and ObesityObesity, Physical Activity, Diet

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Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism

Semple, R. K., Achermann, J. C., Ellery, J., Farooqi, I. S., Karet, F. E., Stanhope, R. G., O’Rahilly, S., & Aparicio, S. A. (2005) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesGrowth Hormone and Insulin-like Growth Factors

Cited by 291

Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity

Asai, M., Ramachandrappa, S., Joachim, M., Shen, Y., Zhang, R., Nuthalapati, N., Ramanathan, V., Strochlic, D. E., Ferket, P., Linhart, K., et al. (2013) · Science

Regulation of Appetite and ObesityHypothalamic control of reproductive hormones

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Congenital Leptin Deficiency Due to Homozygosity for the Δ133G Mutation: Report of Another Case and Evaluation of Response to Four Years of Leptin Therapy

Gibson, W. T., Farooqi, I. S., Moreau, M., DePaoli, A. M., Lawrence, E., O’Rahilly, S., & Trussell, R. A. (2004) · The Journal of Clinical Endocrinology & Metabolism

Regulation of Appetite and ObesityAdipokines, Inflammation, and Metabolic Diseases

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GDF15: a hormone conveying somatic distress to the brain

Lockhart, S. M., Saudek, V., & O’Rahilly, S. (2020) · Endocrine Reviews

GDF15 and Related BiomarkersRegulation of Appetite and Obesity

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Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors

Lotta, L. A., Wittemans, L. B. L., Zuber, V., Stewart, I. D., Sharp, S. J., Luan, J., Day, F. R., Li, C., Bowker, N., Cai, L., et al. (2018) · JAMA

Genetic Associations and EpidemiologyDiabetes, Cardiovascular Risks, and Lipoproteins

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Hyperphagia and Early-Onset Obesity due to a Novel Homozygous Missense Mutation in Prohormone Convertase 1/3

Farooqi, I. S., Volders, K., Stanhope, R., Heuschkel, R., White, A., Lank, E., Keogh, J., O’Rahilly, S., & Creemers, J. W. M. (2007) · The Journal of Clinical Endocrinology & Metabolism

Regulation of Appetite and ObesityPancreatic function and diabetes

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Trim28 Haploinsufficiency Triggers Bi-stable Epigenetic Obesity

Dalgaard, K., Landgraf, K., Heyne, S., Lempradl, A., Longinotto, J., Gossens, K., Ruf, M., Orthofer, M., Strogantsev, R., Selvaraj, M., et al. (2016) · Cell

Genetic Syndromes and ImprintingEpigenetics and DNA Methylation

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Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort

Wade, K. H., Lam, B. Y. H., Melvin, A., Pan, W., Corbin, L. J., Hughes, D. A., Rainbow, K., Chen, J.-H., Duckett, K., Liu, X., et al. (2021) · Nature Medicine

Regulation of Appetite and ObesityGenetic Associations and Epidemiology

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Proteinuric Nephropathy in Acquired and Congenital Generalized Lipodystrophy: Baseline Characteristics and Course during Recombinant Leptin Therapy

Javor, E. D., Moran, S. A., Young, J. R., Cochran, E. K., DePaoli, A. M., Oral, E. A., Turman, M. A., Blackett, P. R., Savage, D. B., O’Rahilly, S., et al. (2004) · The Journal of Clinical Endocrinology & Metabolism

Renal Diseases and GlomerulopathiesChronic Kidney Disease and Diabetes

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Hypoglycemia due to an insulin binding antibody in a patient with an IgA-κ myeloma.

Halsall, D. J., Mangi, M., Soos, M., Fahie-Wilson, M. N., Wark, G., Mainwaring-Burton, R., & O’Rahilly, S. (2007) · The Journal of Clinical Endocrinology & Metabolism

Multiple Myeloma Research and TreatmentsMonoclonal and Polyclonal Antibodies Research

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