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Page 1
KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.
Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JP, Crowne E, Barford D, Wareham NJ; UK10K consortium; O'Rahilly S, Murphy MP, Powell DR, Barroso I, Farooqi IS. Pearce LR, et al. Among authors: bounds r. Cell. 2013 Nov 7;155(4):765-77. doi: 10.1016/j.cell.2013.09.058. Cell. 2013. PMID: 24209692 Free PMC article.
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, Körner 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. Hendricks AE, et al. Among authors: bounds r. Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8. Sci Rep. 2017. PMID: 28663568 Free PMC article.
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. Collet TH, et al. Among authors: bounds r. Mol Metab. 2017 Oct;6(10):1321-1329. doi: 10.1016/j.molmet.2017.06.015. Epub 2017 Jul 8. Mol Metab. 2017. PMID: 29031731 Free PMC article. Clinical Trial.
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. van der Klaauw AA, et al. Among authors: bounds r. Cell. 2019 Feb 7;176(4):729-742.e18. doi: 10.1016/j.cell.2018.12.009. Epub 2019 Jan 17. Cell. 2019. PMID: 30661757 Free PMC article.
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. Riveros-McKay F, et al. Among authors: bounds r. PLoS Genet. 2019 Jan 24;15(1):e1007603. doi: 10.1371/journal.pgen.1007603. eCollection 2019 Jan. PLoS Genet. 2019. PMID: 30677029 Free PMC article.
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. Marenne G, et al. Among authors: bounds r. Cell Metab. 2020 Jun 2;31(6):1107-1119.e12. doi: 10.1016/j.cmet.2020.05.007. Cell Metab. 2020. PMID: 32492392 Free PMC article.
Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.
Brouwers B, de Oliveira EM, 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. Brouwers B, et al. Among authors: bounds r. Cell Rep. 2021 Mar 23;34(12):108862. doi: 10.1016/j.celrep.2021.108862. Cell Rep. 2021. PMID: 33761344 Free PMC article.
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, McAulay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS. Mendes de Oliveira E, et al. Among authors: bounds r. N Engl J Med. 2021 Oct 21;385(17):1581-1592. doi: 10.1056/NEJMoa2103329. Epub 2021 Oct 6. N Engl J Med. 2021. PMID: 34614324
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. Cacciottolo TM, et al. Among authors: bounds r. J Clin Endocrinol Metab. 2022 May 17;107(6):e2532-e2544. doi: 10.1210/clinem/dgac067. J Clin Endocrinol Metab. 2022. PMID: 35137184 Free PMC article.
Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior.
He Y, Brouwers B, Liu H, Liu H, Lawler K, Mendes de Oliveira E, Lee DK, Yang Y, Cox AR, Keogh JM, Henning E, Bounds R, Perdikari A, Ayinampudi V, Wang C, Yu M, Tu L, Zhang N, Yin N, Han J, Scarcelli NA, Yan Z, Conde KM, Potts C, Bean JC, Wang M, Hartig SM, Liao L, Xu J, Barroso I, Mokrosinski J, Xu Y, Sadaf Farooqi I. He Y, et al. Among authors: bounds r. Nat Med. 2022 Dec;28(12):2537-2546. doi: 10.1038/s41591-022-02106-5. Epub 2022 Dec 19. Nat Med. 2022. PMID: 36536256 Free PMC article.
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