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Items: 1 to 20 of 25

1.
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition
Charles Bayard, Eleonora Segna, Maxime Taverne, Antoine Fraissenon, Quentin Hennocq, Baptiste Periou, Lola Zerbib, Sophia Ladraa, Célia Chapelle, Clément Hoguin, Sophie Kaltenbach, Patrick Villarese, Vahid Asnafi, Christine Broissand, Ivan Nemazanyy, Gwennhael Autret, Nicolas Goudin, Christophe Legendre, François-Jérôme Authier, Thomas Viel, Bertrand Tavitian, Cyril Gitiaux, Sylvie Fraitag, Jean-Paul Duong, Clarisse Delcros, Bernard Sergent, Arnaud Picard, Michael Dussiot, Laurent Guibaud, Roman Khonsari, Guillaume Canaud
J Exp Med. 2023 Nov 6; 220(11): e20230926. Published online 2023 Sep 15. doi: 10.1084/jem.20230926
PMCID:
PMC10503430
AbstractArticlePDF–6.4M
2.
Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations
Matthieu Peyre, Danielle Miyagishima, Franck Bielle, Françoise Chapon, Michael Sierant, Quitterie Venot, Julie Lerond, Pauline Marijon, Samiya Abi-Jaoude, Tuan Le Van, Karim Labreche, Richard Houlston, Maxime Faisant, Stéphane Clémenceau, Anne-Laure Boch, Aurelien Nouet, Alexandre Carpentier, Julien Boetto, Angeliki Louvi, Michel Kalamarides
N Engl J Med. Author manuscript; available in PMC 2022 Mar 9.
Published in final edited form as: N Engl J Med. 2021 Sep 9; 385(11): 996. doi: 10.1056/NEJMoa2100440
PMCID:
PMC8606022
AbstractArticlePDF–1.2M
3.
Targeted therapy in patients with PIK3CA-related overgrowth syndrome
Quitterie Venot, Thomas Blanc, Smail Hadj Rabia, Laureline Berteloot, Sophia Ladraa, Jean-Paul Duong, Estelle Blanc, Simon C. Johnson, Clément Hoguin, Olivia Boccara, Sabine Sarnacki, Nathalie Boddaert, Stephanie Pannier, Frank Martinez, Sato Magassa, Junna Yamaguchi, Bertrand Knebelmann, Pierre Merville, Nicolas Grenier, Dominique Joly, Valérie Cormier-Daire, Caroline Michot, Christine Bole-Feysot, Arnaud Picard, Véronique Soupre, Stanislas Lyonnet, Jeremy Sadoine, Lotfi Slimani, Catherine Chaussain, Cécile Laroche-Raynaud, Laurent Guibaud, Christine Broissand, Jeanne Amiel, Christophe Legendre, Fabiola Terzi, Guillaume Canaud
Nature. Author manuscript; available in PMC 2021 May 13.
Published in final edited form as: Nature. 2018 Jun 1; 558(7711): 540–546. Published online 2018 Jun 13. doi: 10.1038/s41586-018-0217-9
PMCID:
PMC7610773
AbstractArticlePDF–6.7M
4.
PIK3CA variants selectively initiate brain hyperactivity during gliomagenesis
Kwanha Yu, Chia-Ching John Lin, Asante Hatcher, Brittney Lozzi, Kathleen Kong, Emmet Huang-Hobbs, Yi-Ting Cheng, Vivek B Beechar, Wenyi Zhu, Yiqun Zhang, Fengju Chen, Gordon B Mills, Carrie A Mohila, Chad J Creighton, Jeffrey L Noebels, Kenneth L Scott, Benjamin Deneen
Nature. Author manuscript; available in PMC 2020 Oct 21.
Published in final edited form as: Nature. 2020 Feb; 578(7793): 166–171. Published online 2020 Jan 29. doi: 10.1038/s41586-020-1952-2
PMCID:
PMC7577741
AbstractArticlePDF–6.6M
5.
Double PIK3CA mutations in cis increase oncogenicity and sensitivity to PI3Kα inhibitors
Neil Vasan, Pedram Razavi, Jared L. Johnson, Hong Shao, Hardik Shah, Alesia Antoine, Erik Ladewig, Alexander Gorelick, Ting-Yu Lin, Eneda Toska, Guotai Xu, Abiha Kazmi, Matthew T. Chang, Barry S. Taylor, Maura N. Dickler, Komal Jhaveri, Sarat Chandarlapaty, Raul Rabadan, Ed Reznik, Melissa L. Smith, Robert Sebra, Frauke Schimmoller, Timothy R. Wilson, Lori S. Friedman, Lewis C. Cantley, Maurizio Scaltriti, José Baselga
Science. Author manuscript; available in PMC 2020 May 8.
Published in final edited form as: Science. 2019 Nov 8; 366(6466): 714–723. doi: 10.1126/science.aaw9032
PMCID:
PMC7173400
AbstractArticlePDF–1.9M
6.
Integrative Clinical Genomics of Metastatic Cancer
Dan R. Robinson, Yi-Mi Wu, Robert J. Lonigro, Pankaj Vats, Erin Cobain, Jessica Everett, Xuhong Cao, Erica Rabban, Chandan Kumar-Sinha, Victoria Raymond, Scott Schuetze, Ajjai Alva, Javed Siddiqui, Rashmi Chugh, Francis Worden, Mark M. Zalupski, Jeffrey Innis, Rajen J. Mody, Scott A. Tomlins, David Lucas, Laurence H. Baker, Nithya Ramnath, Ann F. Schott, Daniel F. Hayes, Joseph Vijai, Kenneth Offit, Elena M. Stoffel, J. Scott Roberts, David C. Smith, Lakshmi P. Kunju, Moshe Talpaz, Marcin Cieslik, Arul M. Chinnaiyan
Nature. Author manuscript; available in PMC 2018 Jun 11.
Published in final edited form as: Nature. 2017 Aug 17; 548(7667): 297–303. Published online 2017 Aug 2. doi: 10.1038/nature23306
PMCID:
PMC5995337
AbstractArticlePDF–3.6M
7.
PI3K pathway regulates ER-dependent transcription in breast cancer through the epigenetic regulator KMT2D
Eneda Toska, Hatice U. Osmanbeyoglu, Pau Castel, Carmen Chan, Ronald C. Hendrickson, Moshe Elkabets, Maura N. Dickler, Maurizio Scaltriti, Christina S. Leslie, Scott A. Armstrong, José Baselga
Science. Author manuscript; available in PMC 2018 Mar 24.
Published in final edited form as: Science. 2017 Mar 24; 355(6331): 1324–1330. doi: 10.1126/science.aah6893
PMCID:
PMC5485411
AbstractArticlePDF–807K
8.
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Jeong Ho Lee, My Huynh, Jennifer L Silhavy, Sangwoo Kim, Tracy Dixon-Salazar, Andrew Heiberg, Eric Scott, Vineet Bafna, Kiley J Hill, Adrienne Collazo, Vincent Funari, Carsten Russ, Stacey B Gabriel, Gary W Mathern, Joseph G Gleeson
Nat Genet. Author manuscript; available in PMC 2015 May 4.
Published in final edited form as: Nat Genet. 2012 Aug; 44(8): 941–945. Published online 2012 Jun 24. doi: 10.1038/ng.2329
PMCID:
PMC4417942
AbstractArticlePDF–1.3M
9.
Inhibition of the p110α isoform of PI 3-kinase stimulates nonfunctional tumor angiogenesis
Adriana Soler, Helena Serra, Wayne Pearce, Ana Angulo, Julie Guillermet-Guibert, Lori S. Friedman, Francesc Viñals, Holger Gerhardt, Oriol Casanovas, Mariona Graupera, Bart Vanhaesebroeck
J Exp Med. 2013 Sep 23; 210(10): 1937–1945. doi: 10.1084/jem.20121571
PMCID:
PMC3782054
AbstractArticlePDF–2.8M
10.
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
Jonathan J. Rios, Nandina Paria, Dennis K. Burns, Bonnie A. Israel, Reuel Cornelia, Carol A. Wise, Marybeth Ezaki
Hum Mol Genet. 2013 Feb 1; 22(3): 444–451. Published online 2012 Oct 24. doi: 10.1093/hmg/dds440
PMCID:
PMC3542862
AbstractArticlePDF–324K
11.
Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes
Mohammed S. Orloff, Xin He, Charissa Peterson, Fusong Chen, Jin-Lian Chen, Jessica L. Mester, Charis Eng
Am J Hum Genet. 2013 Jan 10; 92(1): 76–80. doi: 10.1016/j.ajhg.2012.10.021
PMCID:
PMC3542473
AbstractArticlePDF–354K
12.
Mosaic Overgrowth with Fibroadipose Hyperplasia is Caused by Somatic Activating Mutations in PIK3CA
Marjorie J Lindhurst, Victoria ER Parker, Felicity Payne, Julie C Sapp, Simon Rudge, Julie Harris, Alison M Witkowski, Qifeng Zhang, Matthijs P Groeneveld, Carol E Scott, Allan Daly, Susan M Huson, Laura L Tosi, Michael L Cunningham, Thomas N Darling, Joseph Geer, Zoran Gucev, V. Reid Sutton, Christos Tziotzios, Adrian K Dixon, Timothy Helliwell, Stephen O’Rahilly, David B Savage, Michael JO Wakelam, Inês Barroso, Leslie G Biesecker, Robert K Semple
Nat Genet. Author manuscript; available in PMC 2013 Feb 1.
Published in final edited form as: Nat Genet. 2012 Jun 24; 44(8): 928–933. Published online 2012 Jun 24. doi: 10.1038/ng.2332
PMCID:
PMC3461408
AbstractArticlePDF–1.2M
13.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
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 M. S. Mancini, Wendy S. Meschino, James D. Reggin, Anand K. Saggar, Tally Lerman-Sagie, Gökhan Uyanik, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, FORGE Canada Consortium, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Jr., Kym M. Boycott, William B. Dobyns
Nat Genet. Author manuscript; available in PMC 2013 Feb 1.
Published in final edited form as: Nat Genet. 2012 Aug; 44(8): 934–940. Published online 2012 Jun 24. doi: 10.1038/ng.2331
PMCID:
PMC3408813
AbstractArticlePDF–816K
14.
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
Kyle C. Kurek, Valerie L. Luks, Ugur M. Ayturk, Ahmad I. Alomari, Steven J. Fishman, Samantha A. Spencer, John B. Mulliken, Margot E. Bowen, Guilherme L. Yamamoto, Harry P.W. Kozakewich, Matthew L. Warman
Am J Hum Genet. 2012 Jun 8; 90(6): 1108–1115. doi: 10.1016/j.ajhg.2012.05.006
PMCID:
PMC3370283
AbstractArticlePDF–804K
15.
A Pharmacological Map of the PI3-K Family Defines a Role for p110a in Insulin Signaling
Zachary A. Knight, Beatriz Gonzalez, Morri E. Feldman, Eli R. Zunder, David D. Goldenberg, Olusegun Williams, Robbie Loewith, David Stokoe, Andras Balla, Balazs Toth, Tamas Balla, William A. Weiss, Roger L. Williams, Kevan M. Shokat
Cell. Author manuscript; available in PMC 2010 Sep 28.
Published in final edited form as: Cell. 2006 May 19; 125(4): 733–747. Published online 2006 Apr 27. doi: 10.1016/j.cell.2006.03.035
PMCID:
PMC2946820
AbstractArticlePDF–2.7M
16.
PIK3CA mutations associated with gene signature of low mTORC1 signaling and better outcomes in estrogen receptor–positive breast cancer
Sherene Loi, Benjamin Haibe-Kains, Samira Majjaj, Francoise Lallemand, Virginie Durbecq, Denis Larsimont, Ana M. Gonzalez-Angulo, Lajos Pusztai, W. Fraser Symmans, Alberto Bardelli, Paul Ellis, Andrew N. J. Tutt, Cheryl E. Gillett, Bryan T. Hennessy, Gordon B. Mills, Wayne A. Phillips, Martine J. Piccart, Terence P. Speed, Grant A. McArthur, Christos Sotiriou
Proc Natl Acad Sci U S A. 2010 Jun 1; 107(22): 10208–10213. Published online 2010 May 17. doi: 10.1073/pnas.0907011107
PMCID:
PMC2890442
AbstractArticlePDF–1.0M
17.
Tumours with PI3K activation are resistant to dietary restriction
Nada Y. Kalaany, David M. Sabatini
Nature. Author manuscript; available in PMC 2009 Oct 9.
Published in final edited form as: Nature. 2009 Apr 9; 458(7239): 725–731. Published online 2009 Mar 11. doi: 10.1038/nature07782
PMCID:
PMC2692085
AbstractArticlePDF–2.5M
18.
Knockin of mutant PIK3CA activates multiple oncogenic pathways
John P. Gustin, Bedri Karakas, Michele B. Weiss, Abde M. Abukhdeir, Josh Lauring, Joseph P. Garay, David Cosgrove, Akina Tamaki, Hiroyuki Konishi, Yuko Konishi, Morassa Mohseni, Grace Wang, D. Marc Rosen, Samuel R. Denmeade, Michaela J. Higgins, Michele I. Vitolo, Kurtis E. Bachman, Ben Ho Park
Proc Natl Acad Sci U S A. 2009 Feb 24; 106(8): 2835–2840. Published online 2009 Feb 5. doi: 10.1073/pnas.0813351106
PMCID:
PMC2636736
AbstractArticlePDF–869K
19.
Mutation of the PIK3CA oncogene in human cancers
B Karakas, K E Bachman, B H Park
Br J Cancer. 2006 Feb 27; 94(4): 455–459. Published online 2006 Jan 31. doi: 10.1038/sj.bjc.6602970
PMCID:
PMC2361173
AbstractArticlePDF–115K
20.
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern
Christian Hafner, Elena López-Knowles, Nuno M. Luis, Agustí Toll, Eulàlia Baselga, Alex Fernández-Casado, Silvia Hernández, Adriana Ribé, Thomas Mentzel, Robert Stoehr, Ferdinand Hofstaedter, Michael Landthaler, Thomas Vogt, Ramòn M. Pujol, Arndt Hartmann, Francisco X. Real
Proc Natl Acad Sci U S A. 2007 Aug 14; 104(33): 13450–13454. Published online 2007 Aug 2. doi: 10.1073/pnas.0705218104
PMCID:
PMC1948900
AbstractArticlePDF–946K

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