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There are 94739 results for: content related to: PIK3R1 mutations in SHORT syndrome

  1. You have free access to this content
    Class IA phosphatidylinositol 3-kinase regulates osteoclastic bone resorption through protein kinase B–mediated vesicle transport

    Journal of Bone and Mineral Research

    Volume 27, Issue 12, December 2012, Pages: 2464–2475, Masahiro Shinohara, Masaki Nakamura, Hironari Masuda, Jun Hirose, Yuho Kadono, Mitsuyasu Iwasawa, Yuuichi Nagase, Kohjiro Ueki, Takashi Kadowaki, Takehiko Sasaki, Shigeaki Kato, Hiroaki Nakamura, Sakae Tanaka and Hiroshi Takayanagi

    Version of Record online : 19 NOV 2012, DOI: 10.1002/jbmr.1703

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    miR-376a suppresses proliferation and induces apoptosis in hepatocellular carcinoma

    FEBS Letters

    Volume 586, Issue 16, July 30, 2012, Pages: 2396–2403, Yongxia Zheng, Lei Yin, Huan Chen, Shengsheng Yang, Chuanyong Pan, Shan Lu, Mingyong Miao and Binghua Jiao

    Version of Record online : 7 JUN 2012, DOI: 10.1016/j.febslet.2012.05.054

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    MicroRNA-486-5p, which is downregulated in hepatocellular carcinoma, suppresses tumor growth by targeting PIK3R1

    The FEBS Journal

    Volume 282, Issue 3, February 2015, Pages: 579–594, Xin-Ping Huang, Jin Hou, Xiao-Yun Shen, Chao-Yuan Huang, Xue-Hui Zhang, Yu-An Xie and Xiao-Ling Luo

    Version of Record online : 27 DEC 2014, DOI: 10.1111/febs.13167

  4. Autosomal dominant PIK3R1 mutations cause SHORT syndrome

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 228–229, B.K. Chung and W.T. Gibson

    Version of Record online : 23 SEP 2013, DOI: 10.1111/cge.12262

  5. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 501–506, M. Avila, D.A. Dyment, J.V. Sagen, J. St-Onge, U. Moog, B.H.Y. Chung, S. Mo, S. Mansour, A. Albanese, S. Garcia, D.O. Martin, A.A. Lopez, T. Claudi, R. König, S.M. White, S.L. Sawyer, J.A. Bernstein, L. Slattery, R.K. Jobling, G. Yoon, C.J. Curry, M.L. Merrer, B.L. Luyer, D. Héron, M. Mathieu-Dramard, P. Bitoun, S. Odent, J. Amiel, P. Kuentz, J. Thevenon, M. Laville, Y. Reznik, C. Fagour, M.-L. Nunes, D. Delesalle, S. Manouvrier, O. Lascols, F. Huet, C. Binquet, L. Faivre, J.-B. Rivière, C. Vigouroux, P.R. Njølstad, A.M. Innes and C. Thauvin-Robinet

    Version of Record online : 27 NOV 2015, DOI: 10.1111/cge.12688

  6. You have full text access to this OnlineOpen article
    TGF-β regulates the proliferation of lung adenocarcinoma cells by inhibiting PIK3R3 expression

    Molecular Carcinogenesis

    Volume 54, Issue S1, July 2015, Pages: E162–E171, Guihua Wang, Xi Yang, Yuan Jin, Yu Deng, Xuelai Luo, Junbo Hu and Jing Wang

    Version of Record online : 5 NOV 2014, DOI: 10.1002/mc.22243

  7. Genetic Alterations of Phosphoinositide 3-kinase Subunit Genes in Human Glioblastomas

    Brain Pathology

    Volume 14, Issue 4, October 2004, Pages: 372–377, Masahiro Mizoguchi, Catherine L. Nutt, Gayatry Mohapatra and David N. Louis

    Version of Record online : 5 APR 2006, DOI: 10.1111/j.1750-3639.2004.tb00080.x

  8. Suppression of the PI3K subunit p85α delays embryoid body development and inhibits cell adhesion

    Journal of Cellular Biochemistry

    Volume 112, Issue 12, December 2011, Pages: 3573–3581, Susan M.R. Gurney, Peter Forster, Ursula Just and Ralf Schwanbeck

    Version of Record online : 22 OCT 2011, DOI: 10.1002/jcb.23285

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    Organ-specific lymphangiectasia, arrested lymphatic sprouting, and maturation defects resulting from gene-targeting of the PI3K regulatory isoforms p85α, p55α, and p50α

    Developmental Dynamics

    Volume 238, Issue 10, October 2009, Pages: 2670–2679, Carla Mouta-Bellum, Aleksander Kirov, Laura Miceli-Libby, Maria L. Mancini, Tatiana V. Petrova, Lucy Liaw, Igor Prudovsky, Philip E. Thorpe, Naoyuki Miura, Lewis C. Cantley, Kari Alitalo, David A. Fruman and Calvin P.H. Vary

    Version of Record online : 24 AUG 2009, DOI: 10.1002/dvdy.22078

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    Seeking genes responsible for developmental origins of health and disease from the fetal mouse liver following maternal food restriction

    Congenital Anomalies

    Volume 54, Issue 4, November 2014, Pages: 195–219, Tetsuo Ogawa, Junko Shibato, Randeep Rakwal, Tomomi Saito, Gaku Tamura, Makiko Kuwagata and Seiji Shioda

    Version of Record online : 23 OCT 2014, DOI: 10.1111/cga.12062

  11. Correlation between DNA methylation and gene expression in the brains of patients with bipolar disorder and schizophrenia

    Bipolar Disorders

    Volume 16, Issue 8, December 2014, Pages: 790–799, Chao Chen, Chunling Zhang, Lijun Cheng, James L Reilly, Jeffrey R Bishop, John A Sweeney, Hua-Yun Chen, Elliot S Gershon and Chunyu Liu

    Version of Record online : 22 SEP 2014, DOI: 10.1111/bdi.12255

  12. Frequent genetic abnormalities of the PI3K/AKT pathway in primary ovarian cancer predict patient outcome

    Genes, Chromosomes and Cancer

    Volume 50, Issue 8, August 2011, Pages: 606–618, Jia Huang, Lin Zhang, Joel Greshock, Theresa A. Colligon, Yan Wang, Renee Ward, Dionyssios Katsaros, Heini Lassus, Ralf Butzow, Andrew K. Godwin, Joseph R. Testa, Katherine L. Nathanson, Phyllis A. Gimotty, George Coukos, Barbara L. Weber and Yan Degenhardt

    Version of Record online : 11 MAY 2011, DOI: 10.1002/gcc.20883

  13. Genetic network and pathway analysis of differentially expressed proteins during critical cellular events in fracture repair

    Journal of Cellular Biochemistry

    Volume 100, Issue 2, 1 February 2007, Pages: 527–543, Xinmin Li, Hali Wang, Edward Touma, Emma Rousseau, Richard J. Quigg and James T. Ryaby

    Version of Record online : 7 SEP 2006, DOI: 10.1002/jcb.21017

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    Low Androgen Sensitivity Is Associated With Low Levels of Akt Phosphorylation in LNCaP-E9 Cells

    Journal of Andrology

    Volume 33, Issue 4, July-August 2012, Pages: 660–666, Kazuhiro Iguchi, Kazuhiro Fukami, Kenichiro Ishii, Takashi Otsuka, Shigeyuki Usui, Yoshiki Sugimura and Kazuyuki Hirano

    Version of Record online : 2 JAN 2013, DOI: 10.2164/jandrol.111.013888

  15. You have full text access to this OnlineOpen article
    The Concise Guide to PHARMACOLOGY 2013/14: Enzymes

    British Journal of Pharmacology

    Volume 170, Issue 8, December 2013, Pages: 1797–1867, Stephen P.H. Alexander, Helen E. Benson, Elena Faccenda, Adam J. Pawson, Joanna L. Sharman, Michael Spedding, John A. Peters, Anthony J. Harmar and CGTP Collaborators

    Version of Record online : 17 DEC 2013, DOI: 10.1111/bph.12451

  16. Upregulation of MicroRNA-126 Contributes to Endothelial Progenitor Cell Function in Deep Vein Thrombosis via Its Target PIK3R2

    Journal of Cellular Biochemistry

    Volume 116, Issue 8, August 2015, Pages: 1613–1623, Qingyou Meng, Wenbin Wang, Xiaobin Yu, Wendong Li, Lingshang Kong, Aimin Qian, Chenglong Li and Xiaoqiang Li

    Version of Record online : 10 JUN 2015, DOI: 10.1002/jcb.25115

  17. Genetic Alterations and Aberrant Expression of Genes Related to the Phosphatidyl-lnositol-3′-Kinase/Protein Kinase B (Akt) Signal Transduction Pathway in Glioblastomas

    Brain Pathology

    Volume 13, Issue 4, October 2003, Pages: 507–518, Christiane B. Knobbe and Guido Reifenberger

    Version of Record online : 5 APR 2006, DOI: 10.1111/j.1750-3639.2003.tb00481.x

  18. You have full text access to this OnlineOpen article
    Spironolactone is an antagonist of NRG1-ERBB4 signaling and schizophrenia-relevant endophenotypes in mice

    EMBO Molecular Medicine

    Volume 9, Issue 10, October 2017, Pages: 1448–1462, Michael C Wehr, Wilko Hinrichs, Magdalena M Brzózka, Tilmann Unterbarnscheidt, Alexander Herholt, Jan P Wintgens, Sergi Papiol, Maria Clara Soto-Bernardini, Mykola Kravchenko, Mingyue Zhang, Klaus-Armin Nave, Sven P Wichert, Peter Falkai, Weiqi Zhang, Markus H Schwab and Moritz J Rossner

    Version of Record online : 25 JUL 2017, DOI: 10.15252/emmm.201707691

  19. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 351–354, Nada Al Tassan, Dania Khalil, Jameela Shinwari, Latifa Al Sharif, Prashant Bavi, Zainularifeen Abduljaleel, Nada Abu Dhaim, Amna Magrashi, Steve Bobis, Hala Ahmed, Samaher AlAhmed and Saeed Bohlega

    Version of Record online : 8 DEC 2011, DOI: 10.1002/humu.21650

  20. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 396–398, K. Nakamura, M. Kato, J. Tohyama, T. Shiohama, K. Hayasaka, K. Nishiyama, H. Kodera, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto and H. Saitsu

    Version of Record online : 9 JUN 2013, DOI: 10.1111/cge.12188