Library

Please email us if you are unable to gain access to any of our publications at cuh.genetics.of.obesity@nhs.net

(Useful resources page from current website added on this page)

Recent

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

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 Nov; PMID: 3474854

Selected Reviews

The Hunger Genes: Pathways to Obesity.
van der Klaauw AA, Farooqi.
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

Anti-Obesity Medication

Pharmacotherapy of obesity: an update on the available medications and drugs under investigation.
Chakhtoura M, Haber R, Ghezzawi M, Rhayem C, Tcheroyan R, Mantzoros CS.
EClinicalMedicine. 2023 Mar 20; PMID: 36992862

Anti-obesity drug discovery: advances and challenges
Müller TD, Blüher M, Tschöp MH, DiMarchi RD.
Nat Rev Drug Discov. 2022 Mar; PMID: 34815532

Useful Resources

Changes in the weight status of children between the first and final years of primary school
A longitudinal cohort analysis of data from the National Child Measurement Programme (NCMP) covering children in England between reception (aged 4 to 5 years old) in academic year 2013 to 2014 and year 6 (aged 10 to 11 years old) in academic year 2019 to 2020. (added 26th October 2022)

NICE guideline publication – Obesity: identification, assessment and management
A guideline that covers identifying, assessing and managing obesity in children (aged 2 years and over), young people and adults (added 13th September 2022)

National Child Measurement Programme (NCMP): trends in child body mass index 2006/07-2019/20 (official statistic)
A report that provides a review of the changes in children’s body mass index (BMI) over specific time intervals (added 26th April 2021)

Joint international consensus statement for ending stigma of obesity
Report by an international group of Clinicians highlights how the caring professions are failing people with obesity (added 11th March 2020)

Adult excess weight: patterns and trends
Slide sets presenting the latest data on adult obesity in England (updated February 2021)

Child obesity: patterns and trends
Slide sets presenting the latest data on child obesity in England and the 9 English regions (updated February 2021)

Global atlas on childhood obesity (World Obesity Federation (WOF))
The first global atlas on childhood obesity by the World Obesity Federation (WOF)

Pediatric Obesity – Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline
Clinical Practice Guideline advising healthcare professionals on how to assess, prevent and treat childhood obesity

About Obesity – Child and Adult (including slides and statistics)
Public Health England – National Obesity Observatory

Professional and scientific communities dedicated to solving the problems of obesity
World Obesity Federation

NICE guidelines on type 1 and type 2 diabetes management in children
Guidelines covering the diagnosis and management of type 1 and type 2 diabetes in children and young people aged 18 and under

Government reports
Foresight report – Reducing obesity: future choices

NICE guidelines on obesity management
Obesity: the prevention, identification, assessment and management of overweight and obesity in adults and children (2006 – update 2014)

Cagrilintide:

Liraglutide:

Patients with Obesity Caused by Melanocortin-4 Receptor Mutations Can Be Treated with a Glucagon-like Peptide-1 Receptor Agonist.
Lepsen EW, Zhang J, Thomsen HS, Hansen EL, Hollensted M, Madsbad S, Hansen T, Holst JJ, Holm JC, Torekov SS.
Cell Metab. 2018 Jul 3; PMID: 29861388

A Randomized, Controlled Trial of 3.0 mg of Liraglutide in Weight Management.
Pi-Sunyer X, M.D., Astrup A, Fujioka K, Greenway F, Halpern A, Krempf M, le Roux CW, Ortiz RV, Jensen CB, Wilding JPH, SCALE Obesity and Prediabetes NN8022-1839 Study Group.
N Engl J Med. 2015 Jul; PMID: 26132939

Orforglipron:

Daily Oral GLP-1 Receptor Agonist Orforglipron for Adults with Obesity.
Wharton S, Blevins T, Connery L, Rosenstock J, Raha S, Liu R, Ma X, Mather KJ, Haupt A, Robins D, Pratt E, Kazda C, Konig M; GZGI Investigators.
N Engl J Med. 2023 Sep; PMID: 37351564

Retatrutide:

Triple-Hormone-Receptor Agonist Retatrutide for Obesity – A Phase 2 Trial.
Jastreboff AM, Kaplan LM, Frías JP, Wu Q, Du Y, Gurbuz S, Coskun T, Haupt A, Milicevic Z, Hartman ML; Retatrutide Phase 2 Obesity Trial Investigators.
N Engl J Med. 2023 Aug; PMID: 37366315

Semaglutide:

Semaglutide and Cardiovascular Outcomes in Obesity without Diabetes.
Lincoff AM, Brown-Frandsen K, Colhoun HM, Deanfield J, Emerson SS, Esbjerg S, Hardt-Lindberg S, Kees Hovingh G, Kahn SE, Kushner RF, Lingvay I, Oral TK, Michelsen MM, Plutzky J, Tornøe CW, Ryan DH; SELECT Trial Investigators
N Engl J Med. 2023 Nov; PMID: 37952131

Oral semaglutide 50 mg taken once per day in adults with overweight or obesity (OASIS 1): a randomised, double-blind, placebo-controlled, phase 3 trial.
Knop FK, Aroda VR, do Vale RD, Holst-Hansen T, Laursen PN, Rosenstock J, Rubino DM, Garvey WT; OASIS 1 Investigators
Lancet. 2023 Aug; PMID: 37385278

Once-Weekly Semaglutide in Adolescents with Obesity.
Weghuber D, Barrett T, Barrientos-Pérez M, Gies I, Hesse D, Jeppesen OK, Kelly AS, Mastrandrea LD, Sørrig R, Arslanian S; STEP TEENS Investigators
N Engl J Med. 2022 Dec; PMID: 36322838

Once-Weekly Semaglutide in Adults with Overweight or Obesity.
Wilding JPH, Batterham RL, Calanna S, Davies M, Van Gaal LF, Lingvay I, McGowan BM, Rosenstock J, Tran MTD, Wadden TA, Wharton S, Yokote K, Zeuthen N, Kushner RF; STEP 1 Study Group.
N Engl J Med. 2021 Mar; PMID: 33567185

Semaglutide 2·4 mg once a week in adults with overweight or obesity, and type 2 diabetes (STEP 2): a randomised, double-blind, double-dummy, placebo-controlled, phase 3 trial.
Davies M, Færch L, Jeppesen OK, Pakseresht A, Pedersen SD, Perreault L, Rosenstock J, Shimomura I, Viljoen A, Wadden TA, Lingvay I; STEP 2 Study Group.
Lancet. 2021 Mar; PMID: 33667417

Effect of Subcutaneous Semaglutide vs Placebo as an Adjunct to Intensive Behavioral Therapy on Body Weight in Adults With Overweight or Obesity: The STEP 3 Randomized Clinical Trial.
Wadden TA, Bailey TS, Billings LK, Davies M, Frias JP, Koroleva A, Lingvay I, O’Neil PM, Rubino DM, Skovgaard D, Wallenstein SOR, Garvey WT; STEP 3 Investigators.
JAMA. 2021 Apr; PMID: 33625476

Effect of Continued Weekly Subcutaneous Semaglutide vs Placebo on Weight Loss Maintenance in Adults With Overweight or Obesity: The STEP 4 Randomized Clinical Trial.
Rubino D, Abrahamsson N, Davies M, Hesse D, Greenway FL, Jensen C, Lingvay I, Mosenzon O, Rosenstock J, Rubio MA, Rudofsky G, Tadayon S, Wadden TA, Dicker D; STEP 4 Investigators.
JAMA. 2021 Apr; PMID: 33755728

Effect of Weekly Subcutaneous Semaglutide vs Daily Liraglutide on Body Weight in Adults With Overweight or Obesity Without Diabetes: The STEP 8 Randomized Clinical Trial.
Rubino DM, Greenway FL, Khalid U, O’Neil PM, Rosenstock J, Sørrig R, Wadden TA, Wizert A, Garvey WT; STEP 8 Investigators.
AMA. 2022 Jan; PMID: 35015037

Setmelanotide:

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
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

Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.
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

Survodutide:

Glucagon and GLP-1 receptor dual agonist survodutide for obesity: a randomised, double-blind, placebo-controlled, dose-finding phase 2 trial.
le Roux CW, Steen O, Lucas KJ, Startseva E, Unseld A, Hennige AM.
Lancet. 2024 Feb; PMID: 38330987

Tirzepatide:

Tirzepatide after intensive lifestyle intervention in adults with overweight or obesity: the SURMOUNT-3 phase 3 trial.
Wadden TA, Chao AM, Machineni S, Kushner R, Ard J, Srivastava G, Halpern B, Zhang S, Chen J, Bunck MC, Ahmad NN, Forrester T.
Nat Med. 2023 Oct; PMID: 37840095

Efficacy and safety of a novel dual GIP and GLP-1 receptor agonist tirzepatide in patients with type 2 diabetes (SURPASS-1): a double-blind, randomised, phase 3 trial.
Rosenstock J, Wysham C, Frías JP, Kaneko S, Lee CJ, Fernández Landó L, Mao H, Cui X, Karanikas CA, Thieu VT.
Lancet. 2021 Jul; PMID: 34186022

Tirzepatide Once Weekly for the Treatment of Obesity.
Jastreboff AM, Aronne LJ, Ahmad NN, Wharton S, Connery L, Alves B, Kiyosue A, Zhang S, Liu B, Bunck MC, Stefanski A; SURMOUNT-1 Investigators
N Engl J Med. 2022 Jul; PMID: 5658024

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 Jun; PMID: 3249397

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

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

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

Leptin:

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

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

Human MC4R variants affect endocytosis, traffickingand dimerization revealing multiple cellular mechanisms 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 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

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

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

MRAP2:

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
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

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

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

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

PHIP, Semaphorin 3s:

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 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

POMC:

Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.
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

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

Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.
Krude H, Biebermann H, Schnabel D, Tansek MZ, Theunissen P, Mullis PE, Grüters A.
J Clin Endocrinol Metab. 2003 Oct; PMID: 14557433

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

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.
Krude H, Biebermann H, Luck W, Horn R, Brabant G, Grüters A.
Nat Genet. 1998 Jun; PMID: 9620771

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:

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

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

Additional Papers:

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
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

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

Pediatric Obesity—Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline.
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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