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Items: 1 to 20 of 379

1.
The Role of PIK3R1 in Metabolic Function and Insulin Sensitivity
Ariel Tsay, Jen-Chywan Wang
Int J Mol Sci. 2023 Aug; 24(16): 12665. Published online 2023 Aug 11. doi: 10.3390/ijms241612665
PMCID:
PMC10454413
AbstractArticlePDF–2.1M
2.
The impact of PIK3R1 mutations and insulin-PI3K-glycolytic pathway regulation in prostate cancer
Goutam Chakraborty, Subhiksha Nandakumar, Rahim Hirani, Bastien Nguyen, Konrad H. Stopsack, Christoph Kreitzer, Sai Harisha Rajanala, Romina Ghale, Ying Z. Mazzu, Naga Vara Kishore Pillarsetty, Gwo-Shu Mary Lee, Howard I. Scher, Michael J. Morris, Tiffany Traina, Pedram Razavi, Wassim Abida, Jeremy C. Durack, Stephen B. Solomon, Matthew G. Vander Heiden, Lorelei A. Mucci, Andreas G. Wibmer, Nikolaus Schultz, Philip W. Kantoff
Clin Cancer Res. Author manuscript; available in PMC 2023 Feb 15.
Published in final edited form as: Clin Cancer Res. 2022 Aug 15; 28(16): 3603–3617. doi: 10.1158/1078-0432.CCR-21-4272
PMCID:
PMC9438279
AbstractArticlePDF–2.4M
3.
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth
Catherine E. Cottrell, Nicole R. Bender, Michael T. Zimmermann, Jonathan W. Heusel, Meagan Corliss, Michael J. Evenson, Vincent Magrini, Donald J. Corsmeier, Matthew Avenarius, Jeffrey N. Dudley, Jennifer J. Johnston, Marjorie J. Lindhurst, Katinka Vigh-Conrad, Olivia M. T. Davies, Carrie C. Coughlin, Ilona J. Frieden, Megha Tollefson, Andrea L. Zaenglein, Heather Ciliberto, Laura L. Tosi, Robert K. Semple, Leslie G. Biesecker, Beth A. Drolet
Genet Med. 2021; 23(10): 1882–1888. Published online 2021 May 26. doi: 10.1038/s41436-021-01211-z
PMCID:
PMC8486672
AbstractArticlePDF–707K
4.
SHORT syndrome in two Chinese girls: A case report and review of the literature
Yanhong Zhang, Baolan Ji, Jinsheng Li, Yanying Li, Mei Zhang, Bo Ban
Mol Genet Genomic Med. 2020 Sep; 8(9): e1385. Published online 2020 Jun 29. doi: 10.1002/mgg3.1385
PMCID:
PMC7507522
AbstractArticlePDF–580K
5.
PIK3R1W624R Is an Actionable Mutation in High Grade Serous Ovarian Carcinoma
Concetta D’Ambrosio, Jessica Erriquez, Maddalena Arigoni, Sonia Capellero, Gloria Mittica, Eleonora Ghisoni, Fulvio Borella, Dionyssios Katsaros, Silvana Privitera, Marisa Ribotta, Elena Maldi, Giovanna Di Nardo, Enrico Berrino, Tiziana Venesio, Riccardo Ponzone, Marco Vaira, Douglas Hall, Mercedes Jimenez-Linan, Anna L. Paterson, Raffaele A. Calogero, James D. Brenton, Giorgio Valabrega, Maria Flavia Di Renzo, Martina Olivero
Cells. 2020 Feb; 9(2): 442. Published online 2020 Feb 14. doi: 10.3390/cells9020442
PMCID:
PMC7072782
AbstractArticlePDF–5.9M
6.
The Effect of Proline cis-trans Isomerization on the Folding of the C-Terminal SH2 Domain from p85
Francesca Troilo, Francesca Malagrinò, Lorenzo Visconti, Angelo Toto, Stefano Gianni
Int J Mol Sci. 2020 Jan; 21(1): 125. Published online 2019 Dec 23. doi: 10.3390/ijms21010125
PMCID:
PMC6982175
AbstractArticlePDF–1.4M
7.
Visceral adipose tissue alteration of PI3KR1 expression is associated with gestational diabetes but not promoter DNA methylation
Rebecca C. Rancourt, Raffael Ott, Karen Schellong, Kerstin Melchior, Thomas Ziska, Wolfgang Henrich, Andreas Plagemann
Adipocyte. 2019; 8(1): 339–346. Published online 2019 Oct 12. doi: 10.1080/21623945.2019.1675239
PMCID:
PMC6948979
AbstractArticlePDF–1.2M
8.
p85α Inactivates MMP-2 and Suppresses Bladder Cancer Invasion by Inhibiting MMP-14 Transcription and TIMP-2 Degradation
Jingjing Wang, Ning Zhang, Minggang Peng, Xiaohui Hua, Chao Huang, Zhongxian Tian, Qipeng Xie, Junlan Zhu, Jingxia Li, Haishan Huang, Chuanshu Huang
Neoplasia. 2019 Sep; 21(9): 908–920. Published online 2019 Aug 8. doi: 10.1016/j.neo.2019.07.007
PMCID:
PMC6700442
AbstractArticlePDF–816K
9.
A genetic variant in PIK3R1 is associated with pancreatic cancer survival in the Chinese population
Ying Zhu, Juntao Ke, Yajie Gong, Yang Yang, Xiating Peng, Jianbo Tian, Danyi Zou, Nan Yang, Xiaoyang Wang, Shufang Mei, Meilin Rao, Pingting Ying, Yao Deng, Haoxue Wang, Hongli Zhang, Bin Li, Hao Wan, Yue Li, Siyuan Niu, Yimin Cai, Ming Zhang, Zequn Lu, Rong Zhong, Xiaoping Miao, Jiang Chang
Cancer Med. 2019 Jul; 8(7): 3575–3582. Published online 2019 May 6. doi: 10.1002/cam4.2228
PMCID:
PMC6601582
AbstractArticlePDF–488K
10.
The kinetics of folding of the NSH2 domain from p85
Lorenzo Visconti, Francesca Malagrinò, Angelo Toto, Stefano Gianni
Sci Rep. 2019; 9: 4058. Published online 2019 Mar 11. doi: 10.1038/s41598-019-40480-2
PMCID:
PMC6411737
AbstractArticlePDF–1.0M
11.
Overexpression of PIK3R1 promotes hepatocellular carcinoma progression
Xuejun Ai, Lei Xiang, Zhi Huang, Shi Zhou, Shuai Zhang, Tao Zhang, Tianpeng Jiang
Biol Res. 2018; 51: 52. Published online 2018 Nov 29. doi: 10.1186/s40659-018-0202-7
PMCID:
PMC6264640
AbstractArticlePDF–4.6M
12.
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature
Slavé Petrovski, Roberta E. Parrott, Joseph L. Roberts, Hongxiang Huang, Jialong Yang, Balachandra Gorentla, Talal Mousallem, Endi Wang, Martin Armstrong, Duncan McHale, Nancie J. MacIver, David B. Goldstein, Xiao-Ping Zhong, Rebecca H. Buckley
J Clin Immunol. Author manuscript; available in PMC 2017 Nov 16.
Published in final edited form as: J Clin Immunol. 2016 Jul; 36(5): 462–471. Published online 2016 Apr 13. doi: 10.1007/s10875-016-0281-6
PMCID:
PMC5690581
AbstractArticlePDF–671K
13.
Aberrant low expression of p85α in stromal fibroblasts promotes breast cancer cell metastasis through exosome-mediated paracrine Wnt10b
Y Chen, C Zeng, Y Zhan, H Wang, X Jiang, W Li
Oncogene. 2017 Aug 17; 36(33): 4692–4705. Published online 2017 Apr 10. doi: 10.1038/onc.2017.100
PMCID:
PMC5562851
AbstractArticlePDF–5.4M
14.
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations
Isabel Huang-Doran, Patsy Tomlinson, Felicity Payne, Alexandra Gast, Alison Sleigh, William Bottomley, Julie Harris, Allan Daly, Nuno Rocha, Simon Rudge, Jonathan Clark, Albert Kwok, Stefano Romeo, Emma McCann, Barbara Müksch, Mehul Dattani, Stefano Zucchini, Michael Wakelam, Lazaros C. Foukas, David B. Savage, Rinki Murphy, Stephen O’Rahilly, Inês Barroso, Robert K. Semple
JCI Insight. 2016 Oct 20; 1(17): e88766. Published online 2016 Oct 20. doi: 10.1172/jci.insight.88766
PMCID:
PMC5070960
AbstractArticlePDF–1.6M
15.
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
Carrie L. Lucas, Yu Zhang, Anthony Venida, Ying Wang, Jason Hughes, Joshua McElwee, Morgan Butrick, Helen Matthews, Susan Price, Matthew Biancalana, Xiaochuan Wang, Michael Richards, Tamara Pozos, Isil Barlan, Ahmet Ozen, V. Koneti Rao, Helen C. Su, Michael J. Lenardo
J Exp Med. 2014 Dec 15; 211(13): 2537–2547. doi: 10.1084/jem.20141759
PMCID:
PMC4267241
AbstractArticlePDF–1.9M
16.
A human immunodeficiency caused by mutations in the PIK3R1 gene
Marie-Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suarez, Christine Bole-Feysot, Patrick Nitschke, Marina Cavazzana, Capucine Picard, Anne Durandy, Alain Fischer, Sven Kracker
J Clin Invest. 2014 Sep 2; 124(9): 3923–3928. Published online 2014 Aug 18. doi: 10.1172/JCI75746
Correction in:
J Clin Invest. 2015 Apr 1; 125(4): 1764–1765.
PMCID:
PMC4153704
AbstractArticlePDF–1.0M
17.
The p85 Regulatory Subunit of PI3K Mediates cAMP-PKA and Insulin Biological Effects on MCF-7 Cell Growth and Motility
E. Di Zazzo, A. Feola, C. Zuchegna, A. Romano, C. F. Donini, S. Bartollino, C. Costagliola, R. Frunzio, P. Laccetti, M. Di Domenico, A. Porcellini
ScientificWorldJournal. 2014; 2014: 565839. Published online 2014 Jul 9. doi: 10.1155/2014/565839
PMCID:
PMC4119716
AbstractArticlePDF–4.7M
18.
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
Clea Bárcena, Víctor Quesada, Annachiara De Sandre-Giovannoli, Diana A Puente, Joaquín Fernández-Toral, Sabine Sigaudy, Anwar Baban, Nicolas Lévy, Gloria Velasco, Carlos López-Otín
BMC Med Genet. 2014; 15: 51. Published online 2014 May 2. doi: 10.1186/1471-2350-15-51
PMCID:
PMC4022398
AbstractArticlePDF–2.9M
19.
Identification of Mutations in Distinct Regions of p85 Alpha in Urothelial Cancer
Rebecca L. Ross, Julie E. Burns, Claire F. Taylor, Paul Mellor, Deborah H. Anderson, Margaret A. Knowles
PLoS One. 2013; 8(12): e84411. Published online 2013 Dec 18. doi: 10.1371/journal.pone.0084411
PMCID:
PMC3867501
AbstractArticlePDF–1.4M
20.
PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
Christel Thauvin-Robinet, Martine Auclair, Laurence Duplomb, Martine Caron-Debarle, Magali Avila, Judith St-Onge, Martine Le Merrer, Bernard Le Luyer, Delphine Héron, Michèle Mathieu-Dramard, Pierre Bitoun, Jean-Michel Petit, Sylvie Odent, Jeanne Amiel, Damien Picot, Virginie Carmignac, Julien Thevenon, Patrick Callier, Martine Laville, Yves Reznik, Cédric Fagour, Marie-Laure Nunes, Jacqueline Capeau, Olivier Lascols, Frédéric Huet, Laurence Faivre, Corinne Vigouroux, Jean-Baptiste Rivière
Am J Hum Genet. 2013 Jul 11; 93(1): 141–149. doi: 10.1016/j.ajhg.2013.05.019
PMCID:
PMC3710759
AbstractArticlePDF–799K

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