| 1 | NUAK1, PIK3CA, PPP1R12A
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| Endothelial cell rearrangements during vascular patterning require PI3-kinase-mediated inhibition of actomyosin contractility.
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| Angulo-Urarte A, Casado P, Castillo SD, Kobialka P, Kotini MP, Figueiredo AM, Castel P, Rajeeve V, Milà-Guasch M, Millan J, Wiesner C, Serra H, Muixi L, Casanovas O, Viñals F, Affolter M, Gerhardt H, Huveneers S, Belting HG, Cutillas PR, Graupera M.
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| Nat Commun 9(1):4826. doi: 10.1038/s41467-018-07172-3.
2018
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| 2 | AKT3, BRWD3, CLOVES, DNMT3A, DNMT3OGS, EZH2, GPC3, HIST1H1E, MCAUTS, MPPH2, MRD35, MRX93, MSMR, MSMS, MTOR, NFIX, NSD1, OGID1, PIK3CA, PPP2R5D, PTEN, SGBS, STOL1, WVSS1, WVSS2
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| Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
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| 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.
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| Am J Hum Genet 100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. 2017
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| 3 | CLOVES, MCAP, PIK3CA
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| PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
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| Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG.
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| Am J Med Genet A 167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31.
2015
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| 4 | PIK3CA
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| Somatic Activating PIK3CA Mutations Cause Venous Malformation.
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| Limaye N, Kangas J, Mendola A, Godfraind C, Schlögel MJ, Helaers R, Eklund L, Boon LM, Vikkula M.
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| Am J Hum Genet 97(6):914-21. doi: 10.1016/j.ajhg.2015.11.011.
2015
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| 5 | PIK3CA
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| RAS interaction with PI3K p110α is required for tumor-induced angiogenesis.
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| Murillo MM, Zelenay S, Nye E, Castellano E, Lassailly F, Stamp G, Downward J.
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| J Clin Invest 124(8):3601-11. doi: 10.1172/JCI74134. Epub 2014 Jul 8.
2014
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| 6 | CREG1, PIK3CA
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| CREG promotes vasculogenesis by activation of VEGF/PI3K/Akt pathway.
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| Tian X, Zhang N, Yan C, Nelsen J, Liu S, Kang J, Zhang J, Peng C, Tao J, Sun M, Li Y, Li S, Wang H, Han Y.
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| Front Biosci (Landmark Ed) 19:1215-26.
2014
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| 7 | PIK3CA
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| Short-term hypoxia enhances the migratory capability of dendritic cell through HIF-1α and PI3K/Akt pathway.
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| Filippi I, Morena E, Aldinucci C, Carraro F, Sozzani S, Naldini A.
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| J Cell Physiol 229(12):2067-76. doi: 10.1002/jcp.24666.
2014
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| 8 | AKT1, FAM3A, PIK3CA
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| FAM3A activates PI3K p110α/Akt signaling to ameliorate hepatic gluconeogenesis and lipogenesis.
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| Wang C, Chi Y, Li J, Miao Y, Li S, Su W, Jia S, Chen Z, Du S, Zhang X, Zhou Y, Wu W, Zhu M, Wang Z, Yang H, Xu G, Wang S, Yang J, Guan Y.
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| Hepatology 59(5):1779-90. doi: 10.1002/hep.26945. Epub 2014 Mar 27.
2014
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| 9 | PIK3CA
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| PI3K-dependent multiple myeloma cell survival is mediated by the PIK3CA isoform.
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| Hofmann C, Stühmer T, Schmiedl N, Wetzker R, Mottok A, Rosenwald A, Langer C, Zovko J, Chatterjee M, Einsele H, Bargou RC, Steinbrunn T.
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| Br J Haematol 166(4):529-39. doi: 10.1111/bjh.12920. Epub 2014 Apr 26.
2014
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| 10 | AKT1, PIK3CA
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| Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes.
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| Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C.
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| Am J Hum Genet 92(1):76-80. doi: 10.1016/j.ajhg.2012.10.021. Epub 2012 Dec 13.
2013
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| 11 | PIK3CA
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| Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.
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| Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, Ezaki M.
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| Hum Mol Genet 22(3):444-51. doi: 10.1093/hmg/dds440. Epub 2012 Oct 24.
2013
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| 12 | AKT1, MTOR, PIK3CA
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| The PI3K/AKT/mTOR signaling pathway is overactivated in primary aldosteronism.
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| Su H, Gu Y, Li F, Wang Q, Huang B, Jin X, Ning G, Sun F.
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| PLoS One 8(4):e62399. doi: 10.1371/journal.pone.0062399. Print 2013.
2013
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| 13 | PIK3CA
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| Selective inhibition of phosphoinositide 3-kinase p110α preserves lymphocyte function.
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| So L, Yea SS, Oak JS, Lu M, Manmadhan A, Ke QH, Janes MR, Kessler LV, Kucharski JM, Li LS, Martin MB, Ren P, Jessen KA, Liu Y, Rommel C, Fruman DA.
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| J Biol Chem 288(8):5718-31. doi: 10.1074/jbc.M112.379446. Epub 2012 Dec 28.
2013
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| 14 | PIK3CA, RAB39A
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| Rab39a interacts with phosphatidylinositol 3-kinase and negatively regulates autophagy induced by lipopolysaccharide stimulation in macrophages.
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| Seto S, Sugaya K, Tsujimura K, Nagata T, Horii T, Koide Y.
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| PLoS One 8(12):e83324. doi: 10.1371/journal.pone.0083324.
2013
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| 15 | IL2RA, PIK3CA
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| The signalling factor PI3K is a specific regulator of the clathrin-independent dynamin-dependent endocytosis of IL-2 receptors.
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| Basquin C, Malardé V, Mellor P, Anderson DH, Meas-Yedid V, Olivo-Marin JC, Dautry-Varsat A, Sauvonnet N.
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| J Cell Sci 126(Pt 5):1099-108. doi: 10.1242/jcs.110932. Epub 2013 Jan 23.
2013
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| 16 | CLOVES, PIK3CA
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| Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome.
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| Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML.
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| Am J Hum Genet 90(6):1108-15. Epub 2012 May 31.
2012
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| 17 | MCAP, PIK3CA
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| Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
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| Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB.
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| Am J Med Genet A 158A(2):269-91. doi: 10.1002/ajmg.a.34402. Epub 2012 Jan 6.
2012
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| 18 | AKT3, PIK3CA, PIK3R2
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| De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
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| 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.
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| Nat Genet 44(8):934-40. doi: 10.1038/ng.2331.
2012
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| 19 | MCAP, PIK3CA
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| Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
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| 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.
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| Nat Genet 44(8):928-33. doi: 10.1038/ng.2332.
2012
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| 20 | ITGB1BP2, PIK3CA
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| Phosphoinositide 3-kinase (PI3K(p110alpha)) directly regulates key components of the Z-disc and cardiac structure.
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| Waardenberg AJ, Bernardo BC, Ng DC, Shepherd PR, Cemerlang N, Sbroggiò M, Wells CA, Dalrymple BP, Brancaccio M, Lin RC, McMullen JR.
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| J Biol Chem 286(35):30837-46. doi: 10.1074/jbc.M111.271684. Epub 2011 Jul 11.
2011
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| 21 | PIK3CA
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| Detection of PIK3CA mutations in circulating free DNA in patients with breast cancer.
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| Board RE, Wardley AM, Dixon JM, Armstrong AC, Howell S, Renshaw L, Donald E, Greystoke A, Ranson M, Hughes A, Dive C.
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| Breast Cancer Res Treat 120(2):461-7. Epub 2010 Jan 28.PMID: 20107891 2010
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| 22 | PIK3CA, PIK3CB, PIK3CG
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| Isoform-specific phosphoinositide 3-kinase inhibitors exert distinct effects in solid tumors.
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| Edgar KA, Wallin JJ, Berry M, Lee LB, Prior WW, Sampath D, Friedman LS, Belvin M.
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| Cancer Res 70(3):1164-72. Epub 2010 Jan 26.PMID: 20103642 2010
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| 23 | PIK3CA
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| Evidence for a role for the p110-alpha isoform of PI3K in skeletal function.
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| Grey A, Chaussade C, Empson V, Lin JM, Watson M, O'Sullivan S, Rewcastle G, Naot D, Cornish J, Shepherd P.
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| Biochem Biophys Res Commun 391(1):564-9. Epub 2009 Nov 24.PMID: 19931507 2010
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| 24 | PIK3CA
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| Genetic alterations in the phosphatidylinositol-3 kinase/Akt pathway in thyroid cancer.
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| Xing M.
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| Thyroid 20(7):697-706. Review.
2010
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| 25 | ARAP3, PIK3CA
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| PI3K signaling through the dual GTPase-activating protein ARAP3 is essential for developmental angiogenesis.
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| Gambardella L, Hemberger M, Hughes B, Zudaire E, Andrews S, Vermeren S.
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| Sci Signal 3(145):ra76. doi: 10.1126/scisignal.2001026.
2010
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| 26 | PIK3CA
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| PIK3CA in breast carcinoma: a mutational analysis of sporadic and hereditary cases.
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| Michelucci A, Di Cristofano C, Lami A, Collecchi P, Caligo A, Decarli N, Leopizzi M, Aretini P, Bertacca G, Porta RP, Ricci S, Della Rocca C, Stanta G, Bevilacqua G, Cavazzana A.
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| Diagn Mol Pathol 18(4):200-5.PMID: 19861897 2009
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| 27 | PIK3CA
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| Inhibiting PI3K as a therapeutic strategy against cancer.
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| Paz-Ares L, Blanco-Aparicio C, García-Carbonero R, Carnero A.
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| Clin Transl Oncol 11(9):572-9. Review.PMID: 19775996 2009
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| 28 | PIK3CA, PIK3CB
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| Loss of cardiac phosphoinositide 3-kinase p110 alpha results in contractile dysfunction.
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| Lu Z, Jiang YP, Wang W, Xu XH, Mathias RT, Entcheva E, Ballou LM, Cohen IS, Lin RZ.
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| Circulation 120(4):318-25. Epub 2009 Jul 13.PMID: 19597047 2009
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| 29 | PIK3CA, YBX1
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| The transcriptional induction of PIK3CA in tumor cells is dependent on the oncoprotein Y-box binding protein-1.
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| Astanehe A, Finkbeiner MR, Hojabrpour P, To K, Fotovati A, Shadeo A, Stratford AL, Lam WL, Berquin IM, Duronio V, Dunn SE.
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| Oncogene 28(25):2406-18. Epub 2009 May 11.PMID: 19430491 2009
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| 30 | PIK3CA
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| Anaplastic thyroid cancer: molecular pathogenesis and emerging therapies.
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| Smallridge RC, Marlow LA, Copland JA.
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| Endocr Relat Cancer 16(1):17-44. Epub 2008 Nov 5. Review.
2009
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| 31 | MCAP, PIK3CA
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| Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
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| Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB.
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| Am J Med Genet A 149A(5):868-76. doi: 10.1002/ajmg.a.32732.
2009
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| 32 | PIK3CA
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| The PIK3CA gene as a mutated target for cancer therapy.
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| Gustin JP, Cosgrove DP, Park BH.
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| Curr Cancer Drug Targets 8(8):733-40. Review.PMID: 19075596 2008
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| 33 | PIK3CA, PIK3CB
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| Phosphoinositide 3-kinases p110alpha and p110beta regulate cell cycle entry, exhibiting distinct activation kinetics in G1 phase.
|
| Marqués M, Kumar A, Cortés I, Gonzalez-García A, Hernández C, Moreno-Ortiz MC, Carrera AC.
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| Mol Cell Biol 28(8):2803-14. Epub 2008 Feb 19.PMID: 18285463 2008
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| 34 | PIK3CA
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| Oncogenic mutations of the PIK3CA gene in head and neck squamous cell carcinomas.
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| Murugan AK, Hong NT, Fukui Y, Munirajan AK, Tsuchida N.
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| Int J Oncol 32(1):101-11.PMID: 18097548 2008
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| 35 | PIK3CA
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| Mutations of the PIK3CA gene in diffuse large B cell lymphoma.
|
| Baohua Y, Xiaoyan Z, Tiecheng Z, Tao Q, Daren S.
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| Diagn Mol Pathol 17(3):159-65.
2008
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| 36 | PIK3CA,PIK3R1
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| Mechanism of two classes of cancer mutations in the phosphoinositide 3-kinase catalytic subunit.
|
| Miled N, Yan Y, Hon WC, Perisic O, Zvelebil M, Inbar Y, Schneidman-Duhovny D, Wolfson HJ, Backer JM, Williams RL.
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| Science 317(5835):239-42. 2007
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| 37 | FGFR3, PIK3CA
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| Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern.
|
| Hafner C, Lopez-Knowles E, Luis NM, Toll A, Baselga E, Fernandez-Casado A, Hernandez S, Ribe A, Mentzel T, Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX.
|
| Proc Natl Acad Sci U S A 104(33):13450-4. Epub 2007 Aug 2. 2007
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| 38 | PIK3CA, PIK3CAP
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| Rare mutations of the PIK3CA gene in malignancies of the hematopoietic system as well as endometrium, ovary, prostate and osteosarcomas, and discovery of a PIK3CA pseudogene.
|
| Müller CI, Miller CW, Hofmann WK, Gross ME, Walsh CS, Kawamata N, Luong QT, Koeffler HP.
|
| Leuk Res 31(1):27-32. Epub 2006 Jun 9.
2007
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| 39 | PIK3CA
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| PIK3CA alterations in primary (de novo) and secondary glioblastomas.
|
| Kita D, Yonekawa Y, Weller M, Ohgaki H.
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| Acta Neuropathol 113(3):295-302. Epub 2007 Jan 18.
2007
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| 40 | PIK3CA
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| Mutation of the PIK3CA oncogene in human cancers.
|
| Karakas B, Bachman KE, Park BH.
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| Br J Cancer 94(4):455-9. Review. 2006
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| 41 | PIK3CA
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| Absence of PIK3CA hotspot mutations in hepatocellular carcinoma in Japanese patients.
|
| Tanaka Y, Kanai F, Tada M, Asaoka Y, Guleng B, Jazag A, Ohta M, Ikenoue T, Tateishi K, Obi S, Kawabe T, Yokosuka O, Omata M.
|
| Oncogene 25(20):2950-2. 2006
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| 42 | PIK3CA
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| PIK3CA mutation is an oncogenic aberration at advanced stages of oral squamous cell carcinoma.
|
| Kozaki K, Imoto I, Pimkhaokham A, Hasegawa S, Tsuda H, Omura K, Inazawa J.
|
| Cancer Sci 97(12):1351-8.
2006
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| 43 | PIK3CA, PIK3CB
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| Mutation analysis of PIK3CA and PIK3CB in esophageal cancer and Barrett's esophagus.
|
| Phillips WA, Russell SE, Ciavarella ML, Choong DY, Montgomery KG, Smith K, Pearson RB, Thomas RJ, Campbell IG.
|
| Int J Cancer 118(10):2644-6.PMID: 16380997 2006
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| 44 | PIK3CA
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| PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.
|
| Lee JW, Soung YH, Kim SY, Lee HW, Park WS, Nam SW, Kim SH, Lee JY, Yoo NJ, Lee SH.
|
| Oncogene 24(8):1477-80. 2005
|
| 45 | PIK3CA
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| Functional analysis of PIK3CA gene mutations in human colorectal cancer.
|
| Ikenoue T, Kanai F, Hikiba Y, Obata T, Tanaka Y, Imamura J, Ohta M, Jazag A, Guleng B, Tateishi K, Asaoka Y, Matsumura M, Kawabe T, Omata M.
|
| Cancer Res 65(11):4562-7. 2005
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| 46 | PIK3CA
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| PIK3CA mutations in glioblastoma multiforme.
|
| Hartmann C, Bartels G, Gehlhaar C, Holtkamp N, von Deimling A.
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| Acta Neuropathol (Berl) 109(6):639-42. Epub 2005 May 28. 2005
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| 47 | PIK3CA
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| The prevalence of PIK3CA mutations in gastric and colon cancer.
|
| Velho S, Oliveira C, Ferreira A, Ferreira AC, Suriano G, Schwartz S Jr, Duval A, Carneiro F, Machado JC, Hamelin R, Seruca R.
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| Eur J Cancer 41(11):1649-54. 2005
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| 48 | PIK3CA
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| Uncommon mutation, but common amplifications, of the PIK3CA gene in thyroid tumors.
|
| Wu G, Mambo E, Guo Z, Hu S, Huang X, Gollin SM, Trink B, Ladenson PW, Sidransky D, Xing M.
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| J Clin Endocrinol Metab 90(8):4688-93. Epub 2005 May 31. 2005
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| 49 | AGAP2, PIK3CA
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| Genetic alteration and expression of the phosphoinositol-3-kinase/Akt pathway genes PIK3CA and PIKE in human glioblastomas.
|
| Knobbe CB, Trampe-Kieslich A, Reifenberger G.
|
| Neuropathol Appl Neurobiol 31(5):486-90. Erratum in: Neuropathol Appl Neurobiol. 2005 Dec;31(6):662. 2005
|
| 50 | PIK3CA
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| Mutation of the PIK3CA gene in anaplastic thyroid cancer.
|
| Garcia-Rostan G, Costa AM, Pereira-Castro I, Salvatore G, Hernandez R, Hermsem MJ, Herrero A, Fusco A, Cameselle-Teijeiro J, Santoro M.
|
| Cancer Res 65(22):10199-207. 2005
|
| 51 | PIK3CA
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| High frequency of mutations of the PIK3CA gene in human cancers.
|
| Samuels Y, Wang Z, Bardelli A, Silliman N, Ptak J, Szabo S, Yan H, Gazdar A, Powell SM, Riggins GJ, Willson JK, Markowitz S, Kinzler KW, Vogelstein B, Velculescu VE.
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| Science 304(5670):554. Epub 2004 Mar 11. No abstract available. 2004
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| 52 | PIK3CA
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| Mutations of PIK3CA in anaplastic oligodendrogliomas, high-grade astrocytomas, and medulloblastomas.
|
| Broderick DK, Di C, Parrett TJ, Samuels YR, Cummins JM, McLendon RE, Fults DW, Velculescu VE, Bigner DD, Yan H.
|
| Cancer Res 64(15):5048-50. 2004
|
| 53 | PIK3CA
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| A simple specific pattern of chromosomal aberrations at early stages of head and neck squamous cell carcinomas: PIK3CA but not p63 gene as a likely target of 3q26-qter gains.
|
| Redon R, Muller D, Caulee K, Wanherdrick K, Abecassis J, du Manoir S.
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| Cancer Res 61(10):4122-9. 2001
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| 54 | PIK3CA, VEGFA
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| Phosphatidylinositol 3-kinase signaling mediates angiogenesis and expression of vascular endothelial growth factor in endothelial cells.
|
| Jiang BH, Zheng JZ, Aoki M, Vogt PK.
|
| Proc Natl Acad Sci U S A 97(4):1749-1753 2000
|
| 55 | PIK3CA
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| PIK3CA as an oncogene in cervical cancer.
|
| Ma YY, Wei SJ, Lin YC, Lung JC, Chang TC, Whang-Peng J, Liu JM, Yang DM, Yang WK, Shen CY.
|
| Oncogene 19(23):2739-44. 2000
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| 56 | PIK3CA
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| PIK3CA is implicated as an oncogene in ovarian cancer.
|
| Shayesteh L, Lu Y, Kuo WL, Baldocchi R, Godfrey T, Collins C, Pinkel D, Powell B, Mills GB, Gray JW.
|
| Nat Genet 21 : 99-108. 1999
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| 57 | AKT1, AKT2, PIK3CA
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| The PI 3-kinase/Akt signaling pathway delivers an anti-apoptotic signal.
|
| Kennedy SG, et al.
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| Genes Dev 11(6):701-13. 1997
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| 58 | PIK3CA
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| Molecular cloning, cDNA sequence, and chromosomal localization of the human phosphatidylinositol 3-kinase p110alpha (PIK3CA) gene.
|
| Volinia S, et al.
|
| Genomics 24 : 472-477. 1994
|