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Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.
Moir L, Bochukova EG, Dumbell R, Banks G, Bains RS, Nolan PM, Scudamore C, Simon M, Watson KA, Keogh J, Henning E, Hendricks A, O'Rahilly S, Barroso I; UK10K consortium; Sullivan AE, Bersten DC, Whitelaw ML, Kirsch S, Bentley E, Farooqi IS, Cox RD. Moir L, et al. Among authors: bochukova eg. Mol Metab. 2017 Nov;6(11):1419-1428. doi: 10.1016/j.molmet.2017.08.006. Epub 2017 Aug 24. Mol Metab. 2017. PMID: 29107289 Free PMC article.
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: bochukova eg. 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.
An integrative epi-transcriptomic approach identifies the human cartilage chitinase 3-like protein 2 (CHI3L2) as a potential mediator of B12 deficiency in adipocytes.
Ogunkolade BW, Adaikalakoteswari A, Cardoso SR, Lowe R, Patel N, Rakyan V, Finer S, Wabitsch M, Saravanan P, Tripathi G, Bochukova E, Hitman GA. Ogunkolade BW, et al. Epigenetics. 2022 Oct;17(10):1219-1233. doi: 10.1080/15592294.2021.2003043. Epub 2021 Nov 25. Epigenetics. 2022. PMID: 34818986 Free PMC article.
MC3R links nutritional state to childhood growth and the timing of puberty.
Lam BYH, Williamson A, Finer S, Day FR, Tadross JA, Gonçalves Soares A, Wade K, Sweeney P, Bedenbaugh MN, Porter DT, Melvin A, Ellacott KLJ, Lippert RN, Buller S, Rosmaninho-Salgado J, Dowsett GKC, Ridley KE, Xu Z, Cimino I, Rimmington D, Rainbow K, Duckett K, Holmqvist S, Khan A, Dai X, Bochukova EG; Genes & Health Research Team; Trembath RC, Martin HC, Coll AP, Rowitch DH, Wareham NJ, van Heel DA, Timpson N, Simerly RB, Ong KK, Cone RD, Langenberg C, Perry JRB, Yeo GS, O'Rahilly S. Lam BYH, et al. Among authors: bochukova eg. Nature. 2021 Nov;599(7885):436-441. doi: 10.1038/s41586-021-04088-9. Epub 2021 Nov 3. Nature. 2021. PMID: 34732894 Free PMC article.
CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.
Nag A, Bochukova EG, Kremeyer B, Campbell DD, Muller H, Valencia-Duarte AV, Cardona J, Rivas IC, Mesa SC, Cuartas M, Garcia J, Bedoya G, Cornejo W, Herrera LD, Romero R, Fournier E, Reus VI, Lowe TL, Farooqi IS; Tourette Syndrome Association International Consortium for Genetics; Mathews CA, McGrath LM, Yu D, Cook E, Wang K, Scharf JM, Pauls DL, Freimer NB, Plagnol V, Ruiz-Linares A. Nag A, et al. Among authors: bochukova eg. PLoS One. 2013;8(3):e59061. doi: 10.1371/journal.pone.0059061. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533600 Free PMC article.
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. Frank GR, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):191-4. doi: 10.1016/j.ymgme.2013.04.005. Epub 2013 Apr 17. Mol Genet Metab. 2013. PMID: 23800642 Free PMC article.
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. Bochukova EG, et al. Nature. 2010 Feb 4;463(7281):666-70. doi: 10.1038/nature08689. Epub 2009 Dec 6. Nature. 2010. PMID: 19966786 Free PMC article.
40 results