Publications

KSR2|MRAP2|SH2B1|SIM-1|SRC-1|TUB|Eating Behaviour|Additional Papers

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Recent Publications

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

Agrawal N,Lawler K,Davidson CM, Keogh JM, Legg R, INTERVAL, Barroso I, Farooqi IS, Brand AH.

PLOS Biology, 2021 November ; PMID: 34748544

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

Seelig E, Henning E, Keogh JM, Gillett D, Shin E, Buscombe J, van der Klaauw AA, Farooqi IS

Clinical Endocrinology, 2021 October; PMID: 34694010

Obesity-Associated GNAS Mutations and the Melanocortin Pathway

Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, Bounds R, Wasiluk N, Ayinampudi V, Barroso I, Mokrosiński J, Jyothish D, Lim S, Gupta S, Kershaw M, Matei C, Partha P, Randell T, McAculay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS

New England Journal of Medicine, 2021 October; PMID: 34614324

Human MC4R variants affect endocytosis, traffickingand dimerization revealing multiple cellularmechanisms involved in weight regulation

Brouwers B, Mendes de Oliveira E, Marti-Solano M, Monteiro FBF, Laurin SA, Keogh JM, Henning E, Bounds R, Daly CA, Houston S, Ayinampudi V, Wasiluk N, Clarke D, Plouffe B, Bouvier M, Babu MM, Farooqi IS, Mokrosiński J

Cell Reports, 2021 March; PMID: 33761344

Selected Reviews

The Hunger Genes: Pathways to Obesity.

van der Klaauw AA, Farooqi IS.

Cell. 2015 Mar; PMID: 25815990

View pdf

20 YEARS OF LEPTIN: Human disorders of leptin action.

Farooqi IS, O'Rahilly S.

J Endocrinology. 2014 Oct; PMID: 25232148

Obesity and the brain: how convincing is the addiction model?

Ziauddeen H, Farooqi IS, Fletcher PC.

Nat Rev Neurosci. 2012 Mar; PMID: 22414944

Genetic approaches to understanding human obesity.

Ramachandrappa S, Farooqi IS.

J Clin Invest. 2011 Jun; PMID: 21633175

The severely obese patient--a genetic work-up.

Farooqi IS.

Nat Clin Pract Endocrinol Metab. 2006 Mar; PMID: 16932276

Leptin

Leptin-Mediated Changes in the Human Metabolome

Lawler K, Huang-Doran I, Sonoyama T, Collet TH, Keogh JM, Henning E, O’Rahilly S, Bottolo L, Farooqi IS

J Clin Endocrinol Metab, 2020 May; PMID: 32392278

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

Wabitsch M, Funcke JB, von Schnurbein J, Denzer F, Lahr G, Mazen I, El-Gammal M, Denzer C, Moss A, Debatin KM, Gierschik P, Mistry V, Keogh JM, Farooqi IS, Moepps B, Fischer-Posovszky P.

J Clin Endocrinol Metab. 2015 Sep; PMID: 26186301

Leptin mediates the increase in blood pressure associated with obesity.

Simonds SE, Pryor JT, Ravussin E, Greenway FL, Dileone R, Allen AM, Bassi J, Elmquist JK, Keogh JM, Henning E, Myers MG Jr, Licinio J, Brown RD, Enriori PJ, O'Rahilly S, Sternson SM, Grove KL, Spanswick DC, Farooqi IS, Cowley MA.

Cell. 2014 Dec; PMID: 25480301

Leptin regulates striatal regions and human eating behavior.

Farooqi IS, Bullmore E, Keogh J, Gillard J, O'Rahilly S, Fletcher PC.

Science. 2007 Sep; PMID: 17690262

Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.

Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O'Rahilly S, Trussell RA.

J Clin Endocrinol Metab. 2004 Oct; PMID: 15472169

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

Farooqi IS, Matarese G, Lord GM, Keogh JM, Lawrence E, Agwu C, Sanna V, Jebb SA, Perna F, Fontana S, Lechler RI, DePaoli AM, O'Rahilly S.

J Clin Invest. 2002 Oct; PMID: 12393845

Partial leptin deficiency and human adiposity.

Farooqi IS, Keogh JM, Kamath S, Jones S, Gibson WT, Trussell R, Jebb SA, Lip GY, O'Rahilly S.

Nature. 2001 Nov 1; PMID: 11689931

Effects of recombinant leptin therapy in a child with congenital leptin deficiency.

Farooqi IS, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O’Rahilly S.

N Engl J Med. 1999 Sep; PMID: 10486419

Congenital leptin deficiency is associated with severe early-onset obesity in humans.

Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O'Rahilly S.

Nature. 1997 Jun; PMID: 9202122

Leptin Receptor

Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor.

Kimber W, Peelman F, Prieur X, Wangensteen T, O'Rahilly S, Tavernier J, Farooqi IS.

Endocrinology. 2008 Dec; PMID: 18703626

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

Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S.

N Engl J Med. 2007 Jan; PMID: 17229951

MC4R

Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity

Lotta LA, Mokrosiński J, Mendes de Oliveira E, Li C, Sharp SJ, Luan J, Brouwers B, Ayinampudi V, Bowker N, Kerrison N, Kaimakis V, Hoult D, Stewart ID, Wheeler E, Day FR, Perry JRB, Langenberg C, Wareham NJ, Farooqi IS .

Cell 2019 April; PMID: 31002796

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

Collet TH, Dubern B, Mokrosinski J, Connors H, Keogh JM, Mendes de Oliveira E, Henning E, Poitou-Bernert C, Oppert JM, Tounian P, Marchelli F, Alili R, Le Beyec J, Pépin D, Lacorte JM, Gottesdiener A, Bounds R, Sharma S, Folster C, Henderson B, O'Rahilly S, Stoner E, Gottesdiener K, Panaro BL, Cone RD, Clément K, Farooqi IS, Van der Ploeg LHT

Mol Metab. 2017 Oct; PMID: 29031731

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

van der Klaauw AA, Keogh JM, Henning E, Stephenson C, Kelway S, Trowse VM, Subramaniam N, O'Rahilly S, Fletcher PC, Farooqi IS.

Nat Commun. 2016 Oct; PMID: 27701398

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

van der Klaauw AA, Keogh JM, Henning E, Blackwood A, Haqq AM, Purnell JQ, Farooqi IS.

J Clin Endocrinol Metab. 2013 Feb; PMID: 23316086

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

Hatoum IJ, Stylopoulos N, Vanhoos AM, Boyd KL, Yin DP, Ellacott KL, Ma LL, Blaszczyk K, Keogh JM, Cone RD, Farooqi IS, Kaplan LM.

J Clin Endocrinol Metab. 2012 Jun; PMID: 22492873

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.

Martinelli CE, Keogh JM, Greenfield JR, Henning E, van der Klaauw AA, Blackwood A, O'Rahilly S, Roelfsema F, Camacho-Hübner C, Pijl H, Farooqi IS.

J Clin Endocrinol Metab. 2011 Jan; PMID: 21047921

Modulation of blood pressure by central melanocortinergic pathways.

Greenfield JR, Miller JW, Keogh JM, Henning E, Satterwhite JH, Cameron GS, Astruc B, Mayer JP, Brage S, See TC, Lomas DJ, O'Rahilly S, Farooqi IS.

N Engl J Med. 2009 Jan; PMID: 19092146

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

Tan K, Pogozheva ID, Yeo GS, Hadaschik D, Keogh JM, Haskell-Leuvano C, O'Rahilly S, Mosberg HI, Farooqi IS.

Endocrinology. 2009 Jan; PMID: 18801902

Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

Stutzmann F, Tan K, Vatin V, Dina C, Jouret B, Tichet J, Balkau B, Potoczna N, Horber F, O'Rahilly S, Farooqi IS, Froguel P, Meyre D.

Diabetes. 2008 Sep; PMID: 18559663

The central melanocortin system directly controls peripheral lipid metabolism.

Nogueiras R, Wiedmer P, Perez-Tilve D, Veyrat-Durebex C, Keogh JM, Sutton GM, Pfluger PT, Castaneda TR, Neschen S, Hofmann SM, Howles PN, Morgan DA, Benoit SC, Szanto I, Schrott B, Schürmann A, Joost HG, Hammond C, Hui DY, Woods SC, Rahmouni K, Butler AA, Farooqi IS, O'Rahilly S, Rohner-Jeanrenaud F, Tschöp MH.

J Clin Invest. 2007 Nov; PMID: 17885689

Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.

Alharbi KK, Spanakis E, Tan K, Smith MJ, Aldahmesh MA, O'Dell SD, Sayer AA, Lawlor DA, Ebrahim S, Davey Smith G, O'Rahilly S, Farooqi S, Cooper C, Phillips DI, Day IN.

Hum Mutat. 2007 Mar; PMID: 17072869

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

Yeo GS, Lank EJ, Farooqi IS, Keogh J, Challis BG, O'Rahilly S.

Hum Mol Genet. 2003 Mar; PMID: 12588803

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

Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, O'Rahilly S.

N Engl J Med. 2003 Mar 20; PMID: 12646665

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

Farooqi IS, Yeo GS, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O'Rahilly S.

J Clin Invest. 2000 Jul; PMID: 10903343

A frameshift mutation in MC4R associated with dominantly inherited human obesity.

Yeo GS, Farooqi IS, Aminian S, Halsall DJ, Stanhope RG, O'Rahilly S.

Nat Genet. 1998 Oct; PMID: 9771698

POMC

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

Marenne G, Hendricks AE, Perdikari A, Bounds R, Payne F, Keogh JM, Lelliott CJ, Henning E, Pathan S, Ashford S, Bochukova EG, Mistry V, Daly A, Hayward C, INTERVAL, UK10K Consortium, Wareham NJ, O’Rahilly S, Langenberg C, Wheeler E, Zeggini E, Farooqi IS, Barroso I

Cell Metabolism, 2020 June; PMID: 32492392

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

Creemers JW, Lee YS, Oliver RL, Bahceci M, Tuzcu A, Gokalp D, Keogh J, Herber S, White A, O'Rahilly S, Farooqi IS.

J Clin Endocrinol Metab. 2008 Nov; PMID: 18697863

Heterozygosity for a POMC-null mutation and increased obesity risk in humans.

Farooqi IS, Drop S, Clements A, Keogh JM, Biernacka J, Lowenbein S, Challis BG, O'Rahilly S.

Diabetes. 2006 Sep; PMID: 16936203

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

Lee YS, Challis BG, Thompson DA, Yeo GS, Keogh JM, Madonna ME, Wraight V, Sims M, Vatin V, Meyre D, Shield J, Burren C, Ibrahim Z, Cheetham T, Swift P, Blackwood A, Hung CC, Wareham NJ, Froguel P, Millhauser GL, O'Rahilly S, Farooqi IS.

Cell Metab. 2006 Feb; PMID: 16459314

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

Challis BG, Pritchard LE, Creemers JW, Delplanque J, Keogh JM, Luan J, Wareham NJ, Yeo GS, Bhattacharyya S, Froguel P, White A, Farooqi IS, O'Rahilly S.

Hum Mol Genet. 2002 Aug; PMID: 12165561

PCSK1

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.

Frank GR, Fox J, Candela N, Jovanovic Z, Bochukova E, Levine J, Papenhausen PR, O'Rahilly S, Farooqi IS.

Mol Genet Metab. 2013 Oct; PMID: 23800642

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

Farooqi IS, Volders K, Stanhope R, Heuschkel R, White A, Lank E, Keogh J, O'Rahilly S, Creemers JW.

J Clin Endocrinol Metab. 2007 Sep; PMID: 17595246

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.

Jackson RS, Creemers JW, Farooqi IS, Raffin-Sanson ML, Varro A, Dockray GJ, Holst JJ, Brubaker PL, Corvol P, Polonsky KS, Ostrega D, Becker KL, Bertagna X, Hutton JC, White A, Dattani MT, Hussain K, Middleton SJ, Nicole TM, Milla PJ, Lindley KJ, O'Rahilly S.

J Clin Invest. 2003 Nov; PMID: 14617756

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

Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S.

Nat Genet. 1997 Jul; PMID: 9207799

CNV/GWAS

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

Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S, Garg S, Henning E, Blackburn H, Loos RJ, Wareham NJ, O'Rahilly S, Hurles ME, Barroso I, Farooqi IS.

Nat Genet. 2013 May; PMID: 23563609

A genome-wide association meta-analysis identifies brand new childhood obesity loci.

Bradfield JP, Taal HR, Timpson NJ, Scherag A, Lecoeur C, Warrington NM, Hypponen E, Holst C, Valcarcel B, Thiering E, Salem RM, Schumacher FR, Cousminer DL, Sleiman PM, Zhao J, Berkowitz RI, Vimaleswaran KS, Jarick I, Pennell CE, Evans DM, St Pourcain B, Berry DJ, Mook-Kanamori DO, Hofman A, Rivadeneira F, Uitterlinden AG, van Duijn CM, van der Valk RJ, de Jongste JC, Postma DS, Boomsma DI, Gauderman WJ, Hassanein MT, Lingren CM, Mägi R, Boreham CA, Neville CE, Moreno LA, Elliott P, Pouta A, Hartikainen AL, Li M, Raitakari O, Lehtimäki T, Eriksson JG, Palotie A, Dallongeville J, Das S, Deloukas P, McMahon G, Ring SM, Kemp JP, Buxton JL, Blakemore AI, Bustamante M, Guxens M, Hirschhorn JN, Gillman MW, Kreiner-Møller E, Bisgaard H, Gilliland FD, Heinrich J, Wheeler E, Barroso I, O'Rahilly S, Meirhaeghe A, Sørensen TI, Power C, Palmer LJ, Hinney A, Widen E, Farooqi IS, McCarthy MI, Frougel P, Meyre D, Hebebrand J, Jarvelin MR, Jaddoe VW, Smith GD, Hakonarson H, Grant SF, Early Growth Genetics Consortium.

Nat Genet. 2012 May; PMID: 22484627

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

Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O'Rahilly S, Hurles ME, Farooqi IS.

Nature. 2010 Feb; PMID: 19966786

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

Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS.

Nature. 2010 Feb 4; PMID: 20130649

BDNF

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

Sonoyama T, Stadler LKJ, Zhu M, Keogh JM, Henning E, Hisama F, Kirwan P, Jura M, Blaszczyk BK, DeWitt DC, Brouwers B, Hyvönen M, Barroso I, Merkle FT, Appleyard SM, Wayman GA, Farooqi IS

Scientific Reports, 2020 June; PMID: 32493978

A transcriptomic signature of the hypothalamic response to fasting and BDNF deficiency in Prader-Willi Syndrome

Bochukova EG, Lawler K, Croizier S, Keogh JM, Patel N, Strohbehn G, Lo K, Humphrey J, Hokken-Koelega A, Damen L, Donze S, Bouret SG, Plagnol V, Farooqi IS.

Cell Rep. 2018 Mar; PMID: 29590610

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

Gray J, Yeo G, Hung C, Keogh J, Clayton P, Banerjee K, McAulay A, O'Rahilly S, Farooqi IS.

Int J Obes (Lond). 2007 Feb; PMID: 16702999

Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene.

Gray J, Yeo GS, Cox JJ, Morton J, Adlam AL, Keogh JM, Yanovski JA, El Gharbawy A, Han JC, Tung YC, Hodges JR, Raymond FL, O'Rahilly S, Farooqi IS.

Diabetes. 2006 Dec; PMID: 17130481

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

Yeo GS, Connie Hung CC, Rochford J, Keogh J, Gray J, Sivaramakrishnan S, O'Rahilly S, Farooqi IS.

Nat Neurosci. 2004 Nov; PMID: 15494731

KSR2

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

Pearce L, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revilli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EB, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JPH, Crowne E, Barford D, Wareham NJ, UK10K Consortium, O'Rahilly S, Murphy MP, Powell DR, Barroso I, Farooqi IS.

Cell. 2013 Nov; PMID: 24209692

MRAP2

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 DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstråle M, Marcus C, Hirschhorn JN, Keogh JM, O'Rahilly S, Chan LF, Clark AJ, Farooqi IS, Majzoub JA.

Science. 2013 Aug 30; PMID: 23869016

SH2B1

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

Flores A, Argetsinger LS, Stadler LKJ, Malaga AE, Vander PB, DeSantis LC, Joe RM, Cline JM, Keogh JM, Henning E, Barroso I, Mendes de Oliveira E, Chandrashekar G, Clutter ES, Hu Y, Stuckey J, Farooqi IS, Myers, Jr. MG, Carter-Su C

Diabetes 2019 Nov; PMID: 31439647

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

Lin Jiang, Haoran Su, Julia M. Keogh, Zheng Chen, Elana Henning, Paul Wilkinson, Ian Goodyer, I. Sadaf Farooqi, Liangyou Rui.

FASEB J. 2017 Nov 27; PMID: 29180441

Functional characterisation of obesity-associated variants involving the alpha and beta isoforms of human SH2B1.

Pearce LR, Joe R, Doche ME, Su HW, Keogh JM, Henning E, Argetsinger LS, Bochukova EG, Cline JM, Garg S, Saeed S, Shoelson S, O'Rahilly S, Barroso I, Rui L, Farooqi IS, Carter-Su C.

Endocrinology. 2014 Jun; PMID: 24971614

Human SH2B1 mutations are associated with maladaptive behaviours and obesity.

Doche ME, Bochukova EG, Su HW, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S, Dale A, Cheetham T, Barroso I, Argetsinger LS, O'Rahilly S, Rui L, Carter-Su C, Farooqi IS.

J Clin Invest. 2012 Dec; PMID: 23160192

SIM-1

Characterisation of human variants in obesity-related SIM1 protein identifies a hotspot for dimerisation with the partner protein ARNT2.

Sullivan AE, Raimondo A, Schwab TA, Bruning JB, Froguel P, Farooqi IS, Peet DJ, Whitelaw ML.

Biochem J. 2014 Aug; PMID: 24814368

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

Ramachandrappa S, Raimondo A, Cali AM, Keogh JM, Henning E, Saeed S, Thompson A, Garg S, Bochukova EG, Brage S, Trowse V, Wheeler E, Sullivan AE, Dattani M, Clayton PE, Datta V, Bruning JB, Wareham NJ, O'Rahilly S, Peet DJ, Barroso I, Whitelaw ML, Farooqi IS.

J Clin Invest. 2013 Jul; PMID: 23778139

SRC-1

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

Yang Y, van der Klaauw AA, Zhu L, Cacciottolo TM, He Y, Stadler KJL, Wang C, Xu P, Saito K, Hinton Jr. A, Yan X, Keogh JM, Henning E, Banton MC, Hendricks AE, Bochukova EG, Mistry V, Lawler KL, Liao L, Xu J, O’Rahilly S, Tong Q, UK10K Consortium, Barroso I, O’Malley BW, Farooqi IS, Xu Y.

Nature Communications 2019 April; PMID: 30979869

TUB

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity.

Borman AD, Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT.

Hum Mutat. 2014 Mar; PMID: 24375934

Eating Behaviour

Lipid Metabolism and Survival Across the Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Spectrum: Relationships to Eating Behavior and Cognition.

Ahmed RM, Highton-Williamson E, Caga J, Thornton N, Ramsey E, Zoing M, Kim WS, Halliday GM, Piguet O, Hodges JR, Farooqi IS, Kiernan MC.

J Alzheimers Dis. 2017 Dec 19; PMID: 29254092

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.

Overduin J, Collet TH, Medic N, Henning E, Keogh JM, Forsyth F, Stephenson C, Kanning MW, Ruijschop RM, Farooqi IS, van der Klaauw AA.

Appetite. 2016 Dec; PMID: 27620647

Increased body mass index is associated with specific regional alterations in brain structure.

Medic N, Ziauddeen H, Ersche KD, Farooqi IS, Bullmore ET, Nathan PJ, Ronan L, Fletcher PC.

Int J Obes (Lond). 2016 Jul; PMID: 27089992

Studying food reward and motivation in humans.

Ziauddeen H, Subramaniam N, Cambridge VC, Medic N, Farooqi IS, Fletcher PC.

J Vis Exp. 2014 Mar; PMID: 24686284

Neural and behavioral effects of a novel mu opioid receptor antagonist in binge-eating obese people.

Cambridge VC, Ziauddeen H, Nathan PJ, Subramaniam N, Dodds C, Chamberlain SR, Koch A, Maltby K, Skeggs AL, Napolitano A, Farooqi IS, Bullmore ET, Fletcher PC.

Biol Psychiatry. 2013 May; PMID: 23245760

Distinct modulatory effects of satiety and sibutramine on brain responses to food images in humans: a double dissociation across hypothalamus, amygdala, and ventral striatum.

Fletcher PC, Napolitano A, Skeggs A, Miller SR, Delafont B, Cambridge VC, de Wit S, Nathan PJ, Brooke A, O'Rahilly S, Farooqi IS, Bullmore ET.

J Neurosci. 2010 Oct; PMID: 20980590

Additional Papers

OBEDIS Core Variables Project: European Expert Guidelines on a Minimal Core Set of Variables to Include in Randomized, Controlled Clinical Trials of Obesity Interventions

Alligier M, Barrès R , Blaak EE, Boirie Y, Bouwman J, Brunault P, Campbell K, Clément K, Farooqi IS, Farpour-Lambert NJ, Frühbeck G, Goossens GH, Hager J, Halford JCG, Hauner H, Jacobi D, Julia C, Langin D, Natali A, Neovius M, Oppert JM, Pagotto U, Palmeira AL, Roche H, Rydén M, Scheen AJ, Simon C, Sorensen TI, Tappy L, Yki-Järvinen H, Ziegler O, Laville M.

Obesity Facts 2020 Jan; PMID: 31945762

Genetic architecture of human thinness compared to severe obesity

Riveros-McKay F, Mistry V, Bounds R, Hendricks A, Keogh JM, Thomas H, Henning E, Corbin LJ, Understanding Society Scientific Group, O’Rahilly S, Zeggini E, Wheeler E, Barroso I, Farooqi IS.

PLOS Genetics 2019 Jan; PMID: 30677029

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

van der Klaauw AA, Croizier S, Mendes de Oliveira E, Stadler LKJ, Park S, Kong Y, Banton MC, Tandon P, Hendricks AE, Keogh JM, Riley SE, Papadia S, Henning E, Bounds R, Bochukova EG, Mistry V, O’Rahilly S, Simerly RB, INTERVAL, UK10K Consortium, Minchin JEN, Barroso I, Jones EY, Bouret SG, Farooqi IS.

Cell 2019 Jan; PMID: 30661757

Palmitic Acid Hydroxystearic Acids Activate GPR40, Which Is Involved in Their Beneficial Effects on Glucose Homeostasis.

Syed I, Lee J, Moraes-Vieira PM, Donaldson CJ, Sontheimer A, Aryal P, Wellenstein K, Kolar MJ, Nelson AT, Siegel D, Mokrosinski J, Farooqi IS, Zhao JJ, Yore MM, Peroni OD, Saghatelian A, Kahn BB.

Cell Metab. 2018 Feb 6; PMID: 29414687

A Metabolomic Signature of Acute Caloric Restriction.

Collet TH, Sonoyama T, Henning E, Keogh JM, Ingram B, Kelway S, Guo L, Farooqi IS.

J Clin Endocrinol Metab. 2017 Dec 1; PMID: 29029202

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

Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Korner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS, Understanding Society Scientific Group, EPIC-CVD Consortium, UK10K Consortium.

Sci Rep. 2017 Jun; PMID: 28663568

Oxytocin administration suppresses hypothalamic activation in response to visual food cues.

van der Klaauw AA, Ziauddeen H, Keogh JM, Henning E, Dachi S, Fletcher PC, Farooqi IS.

Sci Rep. 2017 Jun; PMID: 28655900

A mutation in the thyroid hormone receptor alpha gene.

Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Khadem FV, Dattani M, Farooqi IS, Gurnell M, Chatterjee K.

N Engl J Med. 2012 Jan; PMID: 22168587

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