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Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
Bonnefond A, Raimondo A, Stutzmann F, Ghoussaini M, Ramachandrappa S, Bersten DC, Durand E, Vatin V, Balkau B, Lantieri O, Raverdy V, Pattou F, Van Hul W, Van Gaal L, Peet DJ, Weill J, Miller JL, Horber F, Goldstone AP, Driscoll DJ, Bruning JB, Meyre D, Whitelaw ML, Froguel P. Bonnefond A, et al. Among authors: bruning jb. J Clin Invest. 2013 Jul;123(7):3037-41. doi: 10.1172/JCI68035. Epub 2013 Jun 17. J Clin Invest. 2013. PMID: 23778136 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: bruning jb. 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.
Structural mechanism for signal transduction in RXR nuclear receptor heterodimers.
Kojetin DJ, Matta-Camacho E, Hughes TS, Srinivasan S, Nwachukwu JC, Cavett V, Nowak J, Chalmers MJ, Marciano DP, Kamenecka TM, Shulman AI, Rance M, Griffin PR, Bruning JB, Nettles KW. Kojetin DJ, et al. Among authors: bruning jb. Nat Commun. 2015 Aug 20;6:8013. doi: 10.1038/ncomms9013. Nat Commun. 2015. PMID: 26289479 Free PMC article.
110 results