Citations for
1AKT3, BRWD3, CLOVES, DNMT3A, DNMT3OGS, EZH2, GPC3, HIST1H1E, MCAUTS, MPPH2, MRD35, MRX93, MSMR, MSMS, MTOR, NFIX, NSD1, OGID1, PIK3CA, PPP2R5D, PTEN, SGBS, STOL1, WVSS1, WVSS2
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration, Mahamdallie S, Seal S, Ruark E, Rahman N.
Am J Hum Genet 100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. 2017
2AKT1, AKT2, AKT3
Differential effects of Akt isoforms on somatic cell reprogramming.
Tang Y, Jiang Z, Luo Y, Zhao X, Wang L, Norris C, Tian XC.
J Cell Sci 127(Pt 18):3998-4008. doi: 10.1242/jcs.150029. Epub 2014 Jul 18. 2014
3AKT3, XPO1
AKT3 controls mitochondrial biogenesis and autophagy via regulation of the major nuclear export protein CRM-1.
Corum DG, Tsichlis PN, Muise-Helmericks RC.
FASEB J 28(1):395-407. doi: 10.1096/fj.13-235382. Epub 2013 Sep 30. 2014
4AKT3, MPPH2
Somatic activation of AKT3 causes hemispheric developmental brain malformations.
Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA.
Neuron 74(1):41-8. doi: 10.1016/j.neuron.2012.03.010. 2012
5AKT3, PIK3CA, PIK3R2
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB.
Nat Genet 44(8):934-40. doi: 10.1038/ng.2331. 2012
6AKT3, C1ORF199, COX20, DEL1Q44, DEL1QD, HNRNPU, ZBTB18
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.
Hum Genet um Genet. 2011 Jul 29. [Epub ahead of print] 2011
7AKT1, AKT3
Akt1 deletion prevents lung tumorigenesis by mutant K-ras.
Hollander MC, Maier CR, Hobbs EA, Ashmore AR, Linnoila RI, Dennis PA.
Oncogene 30(15):1812-21. Epub 2011 Jan 17. 2011
8AKT3
A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice.
Tokuda S, Mahaffey CL, Monks B, Faulkner CR, Birnbaum MJ, Danzer SC, Frankel WN.
Hum Mol Genet 20(5):988-99. Epub 2010 Dec 15. 2011
9AKT3
Akt3-mediated resistance to apoptosis in B-RAF-targeted melanoma cells.
Shao Y, Aplin AE.
Cancer Res 70(16):6670-81. Epub 2010 Jul 20. 2010
10AKT2, AKT3
Akt2 and Akt3 play a pivotal role in malignant gliomas.
Mure H, Matsuzaki K, Kitazato KT, Mizobuchi Y, Kuwayama K, Kageji T, Nagahiro S.
Neuro Oncol 12(3):221-32. Epub 2009 Dec 21. 2010
11AKT1, AKT2, AKT3
The Akt isoforms are present at distinct subcellular locations.
Santi SA, Lee H.
Am J Physiol Cell Physiol 298(3):C580-91. Epub 2009 Dec 16. 2010
12AKT3, DEL1Q44
Clinical and Molecular Characteristics of 1qter Syndrome: Delineating a Critical Region for corpus callosum agenesis/hypogenesis.
van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB.
J Med Genet 45:346-354 2008
13AKT3
Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum.
Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC.
Am J Hum Genet 81(2):292-303. Epub 2007 Jun 13. 2007
14AKT1, AKT2, AKT3
Mutational analysis of AKT1, AKT2 and AKT3 genes in common human carcinomas.
Soung YH, Lee JW, Nam SW, Lee JY, Yoo NJ, Lee SH.
Oncology 70(4):285-9. Epub 2006 Oct 16. 2006
15AKT3
A specific role for AKT3 in the genesis of ovarian cancer through modulation of G(2)-M phase transition.
Cristiano BE, Chan JC, Hannan KM, Lundie NA, Marmy-Conus NJ, Campbell IG, Phillips WA, Robbie M, Hannan RD, Pearson RB.
Cancer Res 66(24):11718-25. 2006
16AKT1, AKT2, AKT3
AKT plays a central role in tumorigenesis.
Testa JR, Bellacosa A.
Proc Natl Acad Sci U S A 98(20):10983-5. No abstract available. 2001
17AKT1, AKT2, AKT3, TCL1A, TCL1B
The protooncogene TCL1 is an Akt kinase coactivator.
Laine J, Kunstle G, Obata T, Sha M, Noguchi M.
Mol Cell 6(2):395-407. 2000
18AKT3
Identification of a human Akt3 (protein kinase B gamma) which contains the regulatory serine phosphorylation site.
Nakatani K, Sakaue H, Thompson DA, Weigel RJ, Roth RA.
Biochem Biophys Res Commun 257(3):906-10 1999
19AKT3
A human protein kinase Bgamma with regulatory phosphorylation sites in the activation loop and in the C-terminal hydrophobic domain.
Brodbeck D, Cron P, Hemmings BA.
J Biol Chem 274(14):9133-6 1999
20AKT3
Akt, a pleckstrin homology domain containing kinase, is activated primarily by phosphorylation.
Kohn AD, Takeuchi F, Roth RA.
J Biol Chem 271(36):21920-6 1996