J. Keogh

发表

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2016 .

Leptin Regulates Striatal Regions and Human Eating Behavior

E. Bullmore, P. Fletcher, S. O’Rahilly, 2007, Science.

Oxytocin administration suppresses hypothalamic activation in response to visual food cues

P. Fletcher, I. Farooqi, H. Ziauddeen, 2017, Scientific Reports.

Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with delayed gastric emptying

I. Farooqi, D. Gillett, J. Buscombe, 2021, Clinical endocrinology.

Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription

E. Zeggini, C. Lelliott, G. Marenne, 2020, Cell metabolism.

Human SH2B1 mutations are associated with maladaptive behaviors and obesity.

S. O’Rahilly, I. Barroso, I. Farooqi, 2012, The Journal of clinical investigation.

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.

S. O’Rahilly, P. Froguel, M. Dattani, 2009, Human molecular genetics.

Leptin-Mediated Changes in the Human Metabolome

L. Bottolo, S. O’Rahilly, I. Farooqi, 2020, The Journal of clinical endocrinology and metabolism.

A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

S. O’Rahilly, G. Yeo, I. Farooqi, 2004, Nature Neuroscience.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

S. O’Rahilly, G. Yeo, I. Farooqi, 2009, Endocrinology.

Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity

S. O’Rahilly, K. Banerjee, I. Farooqi, 2007, International Journal of Obesity.

A mutation in the thyroid hormone receptor alpha gene.

K. Downes, F. Vargha-Khadem, F. Muntoni, 2012, The New England journal of medicine.

Metabolism: Partial leptin deficiency and human adiposity

S. O’Rahilly, I. Farooqi, S. Jebb, 2001, Nature.

Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

Heterozygosity for a POMC-Null Mutation and Increased Obesity Risk in Humans

S. O’Rahilly, J. Biernacka, I. Farooqi, 2006, Diabetes.

Studies of the peptide YY and neuropeptide Y2 receptor genes in relation to human obesity and obesity-related traits.

S. O’Rahilly, A. Motala, F. Pirie, 2004, Diabetes.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

Obesity-Associated GNAS Mutations and the Melanocortin Pathway.

I. Barroso, I. Farooqi, P. Clayton, 2021, The New England journal of medicine.

Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway.

S. O’Rahilly, I. Farooqi, Y. Lee, 2008, The Journal of clinical endocrinology and metabolism.

Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

S. O’Rahilly, I. Farooqi, J. Creemers, 2007, The Journal of clinical endocrinology and metabolism.

WNT10B mutations in human obesity

S. O’Rahilly, G. Pergola, I. Farooqi, 2006, Diabetologia.

Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1

S. O’Rahilly, I. Barroso, S. Shoelson, 2014, Endocrinology.

Functional characterisation of obesity-associated variants involving the alpha and beta isoforms of human SH 2 B 1

S. O’Rahilly, I. Barroso, S. Shoelson, 2014 .

Oral glutamine increases circulating glucagon-like peptide 1, glucagon, and insulin concentrations in lean, obese, and type 2 diabetic subjects.

J. Holst, A. M. Habib, F. Reimann, 2009, The American journal of clinical nutrition.

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency

K. Clément, S. O’Rahilly, R. Cone, 2017, Molecular metabolism.

Modulation of blood pressure by central melanocortinergic pathways.

S. O’Rahilly, S. Brage, D. Lomas, 2009, The New England journal of medicine.

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene

Vanisha Mistry, P. Fischer-Posovszky, I. Farooqi, 2015, The Journal of clinical endocrinology and metabolism.

Edinburgh Research Explorer Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

S. O’Rahilly, S. Bouret, I. Barroso, 2019 .

Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity

M. Ridderstråle, J. Hirschhorn, S. O’Rahilly, 2013, Science.

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019, Nature Communications.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Gail Clement, Jie Huang, Antonio Ciampi, 2014, Nature Communications.

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

Inês Barroso, Hannah Blackburn, Matthew E Hurles, 2013, Nature Genetics.

Melanin-concentrating hormone receptor mutations and human obesity: functional analysis.

S. O’Rahilly, N. Wareham, J. Luan, 2004, Obesity research.

Studies of the neuromedin U-2 receptor gene in human obesity: evidence for the existence of two ancestral forms of the receptor.

S. Bhattacharyya, S. O’Rahilly, L. Jorde, 2004, The Journal of endocrinology.

Genetic variation in the corticotrophin-releasing factor receptors: identification of single-nucleotide polymorphisms and association studies with obesity in UK Caucasians

S. O’Rahilly, J. Luan, I. Farooqi, 2004, International Journal of Obesity.

High protein intake stimulates postprandial GLP1 and PYY release

I. Farooqi, M. Ghatei, W. Dhillo, 2013, Obesity.

Postprandial total ghrelin suppression is modulated by melanocortin signaling in humans.

I. Farooqi, A. Haqq, J. Purnell, 2013, The Journal of clinical endocrinology and metabolism.

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

Tim Cheetham, S. O’Rahilly, G. Yeo, 2003, The New England journal of medicine.

Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior

Sean M. Hartig, I. Barroso, L. Liao, 2022, Nature Medicine.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Chin Yang Shapland, 2018, bioRxiv.

Failure of sucrose replacement with the non-nutritive sweetener erythritol to alter GLP-1 or PYY release or test meal size in lean or obese people

I. Farooqi, R. Ruijschop, N. Medic, 2016, Appetite.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Klaudia Walter, Nicholas J Timpson, 2015, Nature Communications.

Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila

A. Brand, I. Barroso, I. Farooqi, 2021, PLoS biology.

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

Graham M Lord, S. O’Rahilly, R. Lechler, 2002, The Journal of clinical investigation.

A Metabolomic Signature of Acute Caloric Restriction

I. Farooqi, Lining Guo, T. Sonoyama, 2017, The Journal of clinical endocrinology and metabolism.

Leptin Mediates the Increase in Blood Pressure Associated with Obesity

Eric Ravussin, Julio Licinio, Joel K. Elmquist, 2014, Cell.

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

Spain, S. O’Rahilly, M. Dattani, 2007, The New England journal of medicine.

The CART gene and human obesity: mutational analysis and population genetics.

S. O’Rahilly, N. Wareham, J. Luan, 2000, Diabetes.

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.

S. O’Rahilly, G. Yeo, I. Farooqi, 2000, The Journal of clinical investigation.

Rare variants in single-minded 1 (SIM1) are associated with severe obesity.

Mehul Dattani, Sumedha Garg, Soren Brage, 2013, The Journal of clinical investigation.

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

J. Hodges, S. O’Rahilly, G. Yeo, 2006, Diabetes.

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

S. O’Rahilly, S. Bouret, I. Barroso, 2019, Cell.

Studies of the SIM1 gene in relation to human obesity and obesity-related traits

S. O’Rahilly, J. Luan, I. Farooqi, 2007, International Journal of Obesity.

A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.

S. O’Rahilly, D. Meyre, P. Froguel, 2006, Cell metabolism.

Contribution of variants in the small heterodimer partner gene to birthweight, adiposity, and insulin levels: mutational analysis and association studies in multiple populations.

M. Pembrey, D. Dunger, N. Wareham, 2003, Diabetes.

A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.

S. Bhattacharyya, S. O’Rahilly, N. Wareham, 2002, Human molecular genetics.

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

S. O’Rahilly, J. Luan, D. Halsall, 2001, International Journal of Obesity.

KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation

D. Barford, S. O’Rahilly, N. Wareham, 2013, Cell.

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.

S. O’Rahilly, G. Yeo, I. Farooqi, 2003, Human molecular genetics.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

UK 10 K Consortium

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2019 .

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

M. Hurles, S. O’Rahilly, J. Clayton-Smith, 2010, Nature.

Neural deletion of Sh2b1 results in brain growth retardation and reactive aggression

I. Farooqi, L. Rui, E. Henning, 2017, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Genetic architecture of human thinness compared to severe obesity

E. Zeggini, S. O’Rahilly, I. Barroso, 2019, PLoS genetics.

Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia.

K. Petersen, S. Dufour, D. Befroy, 2010, The Journal of clinical investigation.

Crucial Role of the SH2B1 PH Domain for the Control of Energy Balance

I. Barroso, I. Farooqi, J. Stuckey, 2019, Diabetes.

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome

Jack Humphrey, Katherine Lawler, Vincent Plagnol, 2018, Cell reports.

Oxytocin administration suppresses hypothalamic activation in response to visual food cues

P. Fletcher, I. Farooqi, H. Ziauddeen, 2017, Scientific Reports.

The Sleep/Wake Cycle is Directly Modulated by Changes in Energy Balance.

S. Schmid, I. Farooqi, E. Henning, 2016, Sleep.

Obesity-Associated Melanocortin-4 Receptor Mutations Are Associated With Changes in the Brain Response to Food Cues

A. Lawrence, A. Calder, S. O’Rahilly, 2014, The Journal of clinical endocrinology and metabolism.

Obesity Due to Steroid Receptor Coactivator-1 Deficiency Is Associated With Endocrine and Metabolic Abnormalities

K. Clément, E. Godfrey, I. Farooqi, 2022, The Journal of clinical endocrinology and metabolism.

Visualization of sympathetic neural innervation in human white adipose tissue

I. Farooqi, E. Henning, J. Keogh, 2021, bioRxiv.

The central melanocortin system directly controls peripheral lipid metabolism.

S. O’Rahilly, S. Woods, P. Howles, 2007, The Journal of clinical investigation.

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

R. Cox, S. O’Rahilly, S. Kirsch, 2017, Molecular metabolism.

Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation

M. Babu, I. Farooqi, M. Bouvier, 2021, Cell reports.

Divergent effects of central melanocortin signalling on fat and sucrose preference in humans

Paul C. Fletcher, P. Fletcher, S. O’Rahilly, 2016, Nature Communications.

Neural networks associated with body composition in frontotemporal dementia

J. Hodges, O. Piguet, I. Farooqi, 2019, Annals of clinical and translational neurology.

Sequence variants in the melatonin-related receptor gene (GPR50) associate with circulating triglyceride and HDL levels Published, JLR Papers in Press, January 25, 2006.

S. Bhattacharyya, S. O’Rahilly, N. Wareham, 2006, Journal of Lipid Research.

Melanocortin-4 receptor signaling is required for weight loss after gastric bypass surgery.

N. Stylopoulos, R. Cone, L. Kaplan, 2012, The Journal of clinical endocrinology and metabolism.

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.

S. O’Rahilly, H. Pijl, I. Farooqi, 2011, The Journal of clinical endocrinology and metabolism.

A Transcriptomic Signatur e of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome Graphical

S. Bouret, V. Plagnol, I. Farooqi, 2018 .

Human BDNF/TrkB variants impair hippocampal synaptogenesis and associate with neurobehavioural abnormalities

Mingyan Zhu, S. Appleyard, I. Barroso, 2020, Scientific Reports.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature.

Targeting autophagy potentiates tyrosine kinase inhibitor-induced cell death in Philadelphia chromosome-positive cells, including primary CML stem cells.

M. Dyer, S. O’Rahilly, N. Wareham, 2009, The Journal of clinical investigation.

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.

S. Bhattacharyya, S. O’Rahilly, N. Wareham, 2003, Diabetes.

Elucidating the aetiology of Prader-Willi syndrome: deletion of the HBII-85 class of snoRNA is associated with hyperphagia, obesity and hypogonadism

S. O’Rahilly, P. Froguel, M. Dattani, 2009 .

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia.

K. Petersen, S. Dufour, D. Befroy, 2010, The Journal of clinical investigation.

Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease

A. Reymond, Z. Kutalik, H. Firth, 2023, Cell reports. Medicine.