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Human SH2B1 mutations are associated with maladaptive behaviors 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. Doche ME, et al. Among authors: saeed s. J Clin Invest. 2012 Dec;122(12):4732-6. doi: 10.1172/JCI62696. Epub 2012 Nov 19. J Clin Invest. 2012. PMID: 23160192 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. Among authors: saeed s. Nature. 2010 Feb 4;463(7281):666-70. doi: 10.1038/nature08689. Epub 2009 Dec 6. Nature. 2010. PMID: 19966786 Free PMC article.
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. Ramachandrappa S, et al. Among authors: saeed s. J Clin Invest. 2013 Jul;123(7):3042-50. doi: 10.1172/JCI68016. Epub 2013 Jun 17. J Clin Invest. 2013. PMID: 23778139 Free PMC article.
Functional characterization of obesity-associated variants involving the α and β 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. Pearce LR, et al. Among authors: saeed s. Endocrinology. 2014 Sep;155(9):3219-26. doi: 10.1210/en.2014-1264. Epub 2014 Jun 27. Endocrinology. 2014. PMID: 24971614 Free PMC article.
A rare human variant that disrupts GPR10 signalling causes weight gain in mice.
Talbot F, Feetham CH, Mokrosiński J, Lawler K, Keogh JM, Henning E, Mendes de Oliveira E, Ayinampudi V, Saeed S, Bonnefond A, Arslan M, Yeo GSH, Froguel P, Bechtold DA, Adamson A, Humphreys N, Barroso I, Luckman SM, Farooqi IS. Talbot F, et al. Among authors: saeed s. Nat Commun. 2023 Mar 15;14(1):1450. doi: 10.1038/s41467-023-36966-3. Nat Commun. 2023. PMID: 36922513 Free PMC article.
Biallelic Mutations in P4HTM Cause Syndromic Obesity.
Saeed S, Ning L, Badreddine A, Mirza MU, Boissel M, Khanam R, Manzoor J, Janjua QM, Khan WI, Toussaint B, Vaillant E, Amanzougarene S, Derhourhi M, Trant JF, Siegert AM, Lam BYH, Yeo GSH, Chabraoui L, Touzani A, Kulkarni A, Farooqi IS, Bonnefond A, Arslan M, Froguel P. Saeed S, et al. Diabetes. 2023 Sep 1;72(9):1228-1234. doi: 10.2337/db22-1017. Diabetes. 2023. PMID: 37083980
Loss-of-function mutations in ADCY3 cause monogenic severe obesity.
Saeed S, Bonnefond A, Tamanini F, Mirza MU, Manzoor J, Janjua QM, Din SM, Gaitan J, Milochau A, Durand E, Vaillant E, Haseeb A, De Graeve F, Rabearivelo I, Sand O, Queniat G, Boutry R, Schott DA, Ayesha H, Ali M, Khan WI, Butt TA, Rinne T, Stumpel C, Abderrahmani A, Lang J, Arslan M, Froguel P. Saeed S, et al. Nat Genet. 2018 Feb;50(2):175-179. doi: 10.1038/s41588-017-0023-6. Epub 2018 Jan 8. Nat Genet. 2018. PMID: 29311637 Free article.
1,561 results