Somatic Activating PIK3CA Mutations Cause Venous Malformation

作者: Nisha Limaye , Jaakko Kangas , Antonella Mendola , Catherine Godfraind , Matthieu J. Schlögel

DOI: 10.1016/J.AJHG.2015.11.011

关键词: PI3K/AKT/mTOR pathwayCancer researchSomatic cellReceptorPhenotypeProtein kinase BReceptor tyrosine kinaseEndothelial stem cellMolecular biologyP110αBiology

摘要: … 2, 5, 8 and that activation of PI3K/AKT is a universal feature of HUVECs expressing mutated TEK.… HUVECs were retrovirally transfected with PIK3CA wild-type or recurrent VM-causative …

参考文章(28)
Marjut Nätynki, Jaakko Kangas, Ilkka Miinalainen, Raija Sormunen, Riikka Pietilä, Julie Soblet, Laurence M Boon, Miikka Vikkula, Nisha Limaye, Lauri Eklund, None, Common and specific effects of TIE2 mutations causing venous malformations. Human Molecular Genetics. ,vol. 24, pp. 6374- 6389 ,(2015) , 10.1093/HMG/DDV349
Yuko Koshino, Toshihiko Oki, Toshio Kitamura, Tetsuya Nosaka, Hidetoshi Kumagai, Fumi Shibata, Hideaki Nakajima, Retrovirus-mediated gene transfer and expression cloning: powerful tools in functional genomics Experimental Hematology. ,vol. 31, pp. 1007- 1014 ,(2003) , 10.1016/J.EXPHEM.2003.07.005
Mariona Graupera, Julie Guillermet-Guibert, Lazaros C Foukas, Li-Kun Phng, Robert J Cain, Ashreena Salpekar, Wayne Pearce, Stephen Meek, Jaime Millan, Pedro R Cutillas, Andrew JH Smith, Anne J Ridley, Christiana Ruhrberg, Holger Gerhardt, Bart Vanhaesebroeck, None, Angiogenesis selectively requires the p110α isoform of PI3K to control endothelial cell migration Nature. ,vol. 453, pp. 662- 666 ,(2008) , 10.1038/NATURE06892
Kim M Keppler‐Noreuil, Julie C Sapp, Marjorie J Lindhurst, Victoria ER Parker, Cathy Blumhorst, Thomas Darling, Laura L Tosi, Susan M Huson, Richard W Whitehouse, Eveliina Jakkula, Ian Grant, Meena Balasubramanian, Kate E Chandler, Jamie L Fraser, Zoran Gucev, Yanick J Crow, Leslie Manace Brennan, Robin Clark, Elizabeth A Sellars, Loren DM Pena, Vidya Krishnamurty, Andrew Shuen, Nancy Braverman, Michael L Cunningham, V Reid Sutton, Velibor Tasic, John M Graham Jr, Joseph Geer Jr, Alex Henderson, Robert K Semple, Leslie G Biesecker, None, Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. American Journal of Medical Genetics Part A. ,vol. 164, pp. 1713- 1733 ,(2014) , 10.1002/AJMG.A.36552
Nisha Limaye, Vinciane Wouters, Melanie Uebelhoer, Marjut Tuominen, Riikka Wirkkala, John B Mulliken, Lauri Eklund, Laurence M Boon, Miikka Vikkula, None, Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations Nature Genetics. ,vol. 41, pp. 118- 124 ,(2009) , 10.1038/NG.272
Lauren M. Thorpe, Haluk Yuzugullu, Jean J. Zhao, PI3K in cancer: divergent roles of isoforms, modes of activation and therapeutic targeting Nature Reviews Cancer. ,vol. 15, pp. 7- 24 ,(2015) , 10.1038/NRC3860
Reid A. Maclellan, Valerie L. Luks, Matthew P. Vivero, John B. Mulliken, David Zurakowski, Bonnie L. Padwa, Matthew L. Warman, Arin K. Greene, Kyle C. Kurek, PIK3CA activating mutations in facial infiltrating lipomatosis. Plastic and Reconstructive Surgery. ,vol. 133, pp. 117- ,(2013) , 10.1097/01.PRS.0000436822.26709.7C
D. S. Ory, B. A. Neugeboren, R. C. Mulligan, A stable human-derived packaging cell line for production of high titer retrovirus/vesicular stomatitis virus G pseudotypes Proceedings of the National Academy of Sciences of the United States of America. ,vol. 93, pp. 11400- 11406 ,(1996) , 10.1073/PNAS.93.21.11400
Elisa Boscolo, Silvia Coma, Valerie L. Luks, Arin K. Greene, Michael Klagsbrun, Matthew L. Warman, Joyce Bischoff, AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation. Angiogenesis. ,vol. 18, pp. 151- 162 ,(2015) , 10.1007/S10456-014-9453-2
Jean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, Margaret Beddaoui, Diana Alcantara, Robert L Conway, Judith St-Onge, Jeremy A Schwartzentruber, Karen W Gripp, Sarah M Nikkel, Thea Worthylake, Christopher T Sullivan, Thomas R Ward, Hailly E Butler, Nancy A Kramer, Beate Albrecht, Christine M Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A Drolet, A Micheil Innes, Julie L Lauzon, Angela E Lin, Grazia MS Mancini, Wendy S Meschino, James D Reggin, Anand K Saggar, Tally Lerman-Sagie, Gökhan Uyanik, Rosanna Weksberg, Birgit Zirn, Chandree L Beaulieu, Finding of Rare Disease Genes (FORGE) Canada Consortium, Jacek Majewski, Dennis E Bulman, Mark O'Driscoll, Jay Shendure, John M Graham Jr, Kym M Boycott, William B Dobyns, None, De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Nature Genetics. ,vol. 44, pp. 934- 940 ,(2012) , 10.1038/NG.2331