Publications
Recent|Selected Reviews|Leptin| Leptin Receptor| MC4R| POMC| PCSK1|GNAS|BDNF|KSR2|MRAP2|SH2B1|SIM-1|SRC-1|TRPC5|TUB |HTR2C|PHIP, Semaphorin 3s| Additional Papers
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Recent Publications
Definition and diagnostic criteria of clinical obesity.
Orthopedia regulates melanocortin 4 receptor transcription and energy homeostasis.
Selected Reviews
Translational potential of mouse models of human metabolic disease.
The Hunger Genes: Pathways to Obesity.
van der Klaauw AA, Farooqi IS.
Cell. 2015 Mar; PMID: 25815990
20 YEARS OF LEPTIN: Human disorders of leptin action.
Farooqi IS, O'Rahilly S.
J Endocrinology. 2014 Oct; PMID: 25232148
Leptin
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
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
MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency.
Clément K, Biebermann H, Farooqi IS, Van der Ploeg L, Wolters B, Poitou C, Puder L, Fiedorek F, Gottesdiener K, Kleinau G, Heyder N, Scheerer P, Blume-Peytavi U, Jahnke I, Sharma S, Mokrosinski J, Wiegand S, Müller A, Weiß K, Mai K, Spranger J, Grüters A, Blankenstein O, Krude H, Kühnen P.
Nat Med. 2018 May; PMID: 29736023
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
For further publications please see the MC4R dedicated website
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 Mar; PMID: 33761344
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 Apr; 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
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
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
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
POMC
Clément K, van den Akker E, Argente J, Bahm A, Chung WK, Connors H, De Waele K, Farooqi IS, Gonneau-Lejeune J, Gordon G, Kohlsdorf K, Poitou C, Puder L, Swain J, Stewart M, Yuan G, Wabitsch M, Kühnen P; Setmelanotide POMC and LEPR Phase 3 Trial Investigators.
Lancet Diabetes Endocrinol. 2020 Dec; PMID: 33137293
Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist.
Kühnen P, Clément K, Wiegand S, Blankenstein O, Gottesdiener K, Martini LL, Mai K, Blume-Peytavi U, Grüters A, Krude H. .
N Engl J Med. 2016 Jul; PMID: 27468060
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
Krude H, Biebermann H, Schnabel D, Tansek MZ, Theunissen P, Mullis PE, Grüters A.
J Clin Endocrinol Metab. 2003 Oct; PMID: 14557433
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
Krude H, Biebermann H, Luck W, Horn R, Brabant G, Grüters A.
Nat Genet. 1998 Jun; PMID: 9620771
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
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
Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S.
Nat Genet. 1997 Jul; PMID: 9207799
GNAS
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 Oct; PMID: 34614324
BDNF
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 Jun; PMID: 3249397
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
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
Baron M, Maillet J, Huyvaert M, Dechaume A, Boutry R, Loiselle H, Durand E, Toussaint B, Vaillant E, Philippe J, Thomas J, Ghulam A, Franc S, Charpentier G, Borys JM, Lévy-Marchal C, Tauber M, Scharfmann R, Weill J, Aubert C, Kerr-Conte J, Pattou F, Roussel R, Balkau B, Marre M, Boissel M, Derhourhi M, Gaget S, Canouil M, Froguel P, Bonnefond A.
Nat Med. 2019 Nov; PMID: 31700171
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
; PMID: 31439647
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
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
SIM-1
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
Cacciottolo TM, Henning E, Keogh JM, Bel Lassen P, Lawler K, Bounds R, Ahmed R, Perdikari A, Mendes de Oliveira E, Smith M, Godfrey EM, Johnson E, Hodson L, Clément K, van der Klaauw AA, Farooqi IS.
J Clin Endocrinol Metab. 2022 May; PMID: 35137184
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 Apr; PMID: 30979869
TRPC5
Loss of transient receptor potential channel 5 causes obesity and postpartum depression.
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
HTR2C
Neural circuits expressing the serotonin 2C receptor regulate memory in mice and humans.
He Y, Brouwers B, Liu Hesong, Liu Hailan, Lawler K, Mendes de Oliveira E, Lee D, Yang Y, Cox A, Keogh JM, Henning E, Bounds R, Perdikari A, Ayinampudi V, Wang C, Yu M, Tu L, Zhang N, Yin, N, Han J, Scarcelli N, Yan Z, Conde K, Potts C, Bean, J, Wang M, Hartig S, Liao L, Xu J, Barroso I, Mokrosinski J, Xu, Y, Farooqi IS.
Nature Medicine. 2022 Dec; PMID: 36536256
PHIP, Semaphorin 3s
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 Jun; PMID: 32492392
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 Feb; PMID: 30661757
Additional Papers
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J.
Lancet Diabetes Endocrinol. 2022 Dec; PMID: 36356613
Natural History of Obesity Due to POMC, PCSK1, and LEPR Deficiency and the Impact of Setmelanotide
Wabitsch M, Farooqi IS, Flück CE, Bratina N, Mallya UG, Stewart M, Garrison J, van den Akker E, Kühnen P.
J Endocr Soc. 2022 Apr; PMID: 35528826
Agrawal N,Lawler K,Davidson CM, Keogh JM, Legg R, INTERVAL, Barroso I, Farooqi IS, Brand AH.
PLOS Biology. 2021 Nov; PMID: 34748544
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
Styne M, Arslanian S, Connor E, Farooqi IS, Hassan Murad M, Silverstein JH, Yanovski JA, .
The Journal of Clinical Endocrinology & Metabolism. 2017 Mar; PMID: 28359099
Changes in Energy Expenditure Resulting from Altered Body Weight
Leibel R, Rosenbaum M, Hirsch J.
NEJM. 1995 Mar; PMID: 7632212
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