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An activating mutation of AKT2 and human hypoglycemia.
Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK. Hussain K, et al. Among authors: scott c. Science. 2011 Oct 28;334(6055):474. doi: 10.1126/science.1210878. Epub 2011 Oct 6. Science. 2011. PMID: 21979934 Free PMC article.
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK. Lindhurst MJ, et al. Among authors: scott ce. Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332. Nat Genet. 2012. PMID: 22729222 Free PMC article.
Influence of CRTC1 polymorphisms on body mass index and fat mass in psychiatric patients and the general adult population.
Choong E, Quteineh L, Cardinaux JR, Gholam-Rezaee M, Vandenberghe F, Dobrinas M, Bondolfi G, Etter M, Holzer L, Magistretti P, von Gunten A, Preisig M, Vollenweider P, Beckmann JS, Pralong FP, Waeber G, Kutalik Z, Conus P, Bochud M, Eap CB; ODEX team. Choong E, et al. JAMA Psychiatry. 2013 Oct;70(10):1011-9. doi: 10.1001/jamapsychiatry.2013.187. JAMA Psychiatry. 2013. PMID: 23925723 Free article.
Macrophages marc(o) the difference in liver inflammation?
Zwicker C, Scott CL. Zwicker C, et al. Among authors: scott cl. Trends Immunol. 2024 May 23:S1471-4906(24)00106-6. doi: 10.1016/j.it.2024.05.002. Online ahead of print. Trends Immunol. 2024. PMID: 38789321
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
4,334 results