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There are 3830 results for: content related to: Functional Assessment of TSC 2 Variants Identified in Individuals with Tuberous Sclerosis Complex

  1. You have full text access to this OnlineOpen article
    Doxycycline reduces the migration of tuberous sclerosis complex-2 null cells - effects on RhoA-GTPase and focal adhesion kinase

    Journal of Cellular and Molecular Medicine

    Volume 19, Issue 11, November 2015, Pages: 2633–2646, Ho Yin Ng, Brian Gregory George Oliver, Janette Kay Burgess, Vera P. Krymskaya, Judith Lee Black and Lyn M. Moir

    Version of Record online : 18 AUG 2015, DOI: 10.1111/jcmm.12593

  2. You have free access to this content
    Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 424–435, Marianne Hoogeveen-Westerveld, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T. den Dunnen, Kay Metcalfe, Stephanie Vallee, Stefan Krueger, JoAnn Bergoffen, Vandana Shashi, Frances Elmslie, David Kwiatkowski, Julian Sampson, Concha Vidales, Jacinta Dzarir, Javier Garcia-Planells, Kira Dies, Anneke Maat-Kievit, Ans van den Ouweland, Dicky Halley and Mark Nellist

    Version of Record online : 8 MAR 2011, DOI: 10.1002/humu.21451

  3. Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds

    Clinical Genetics

    Volume 81, Issue 5, May 2012, Pages: 453–461, M Wentink, M Nellist, M Hoogeveen-Westerveld, B Zonnenberg, D van der Kolk, T van Essen, S-M Park, G Woods, P Cohn-Hokke, W Brussel, E Smeets, A Brooks, D Halley, A van den Ouweland and A Maat-Kievit

    Version of Record online : 10 MAR 2011, DOI: 10.1111/j.1399-0004.2011.01648.x

  4. Preliminary Functional Assessment and Classification of DEPDC5 Variants Associated with Focal Epilepsy

    Human Mutation

    Volume 36, Issue 2, February 2015, Pages: 200–209, Melissa van Kranenburg, Marianne Hoogeveen-Westerveld and Mark Nellist

    Version of Record online : 27 NOV 2014, DOI: 10.1002/humu.22723

  5. You have full text access to this OnlineOpen article
    Tuberin regulates reactive oxygen species in renal proximal cells, kidney from rodents, and kidney from patients with tuberous sclerosis complex

    Cancer Science

    Volume 107, Issue 8, August 2016, Pages: 1092–1100, Samy L. Habib and Hanna E. Abboud

    Version of Record online : 25 JUL 2016, DOI: 10.1111/cas.12984

  6. You have full text access to this OnlineOpen article
    Protein kinase C and P2Y12 take center stage in thrombin-mediated activation of mammalian target of rapamycin complex 1 in human platelets

    Journal of Thrombosis and Haemostasis

    Volume 12, Issue 5, May 2014, Pages: 748–760, S. F. Moore, R. W. Hunter and I. Hers

    Version of Record online : 22 MAY 2014, DOI: 10.1111/jth.12552

  7. You have full text access to this OnlineOpen article
    TSC2 epigenetic defect in primary LAM cells. Evidence of an anchorage-independent survival

    Journal of Cellular and Molecular Medicine

    Volume 18, Issue 5, May 2014, Pages: 766–779, Elena Lesma, Silvia Ancona, Silvia M. Sirchia, Emanuela Orpianesi, Vera Grande, Patrizia Colapietro, Eloisa Chiaramonte, Anna Maria Di Giulio and Alfredo Gorio

    Version of Record online : 7 MAR 2014, DOI: 10.1111/jcmm.12237

  8. Alterations of the mTOR pathway in hepatic angiomyolipoma with emphasis on the epithelioid variant and loss of heterogeneity of TSC1/TSC2

    Histopathology

    Volume 66, Issue 5, April 2015, Pages: 695–705, Shih-Chiang Huang, Huei-Chieh Chuang, Tai-Di Chen, Chen-Lin Chi, Kwai-Fong Ng, Ta-Sen Yeh and Tse-Ching Chen

    Version of Record online : 20 JAN 2015, DOI: 10.1111/his.12551

  9. Transformation of kidney epithelial cells by a quinol thioether via inactivation of the tuberous sclerosis-2 tumor suppressor gene

    Molecular Carcinogenesis

    Volume 31, Issue 1, May 2001, Pages: 37–45, Hae-Seong Yoon, Terrence J. Monks, Cheryl L. Walker and Serrine S. Lau

    Version of Record online : 22 MAY 2001, DOI: 10.1002/mc.1037

  10. Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 476–479, Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Izabela Karbassi, Sat Dev Batish, Johan T. den Dunnen, Agnies van Eeghen, Elizabeth Thiele, Karin Mayer, Kira Dies, Li Wen, Catherine Thompson, Steven P. Sparagana, Peter Davies, Cora Aalfs, Ans van den Ouweland, Dicky Halley and Mark Nellist

    Version of Record online : 17 JAN 2012, DOI: 10.1002/humu.22007

  11. You have full text access to this OnlineOpen article
    Potential role of FoxO1 and mTORC1 in the pathogenesis of Western diet-induced acne

    Experimental Dermatology

    Volume 22, Issue 5, May 2013, Pages: 311–315, Bodo C. Melnik and Christos C. Zouboulis

    Version of Record online : 25 APR 2013, DOI: 10.1111/exd.12142

  12. Tuberous Sclerosis: Genetics

    Standard Article

    eLS

    Andrew R Tee, Julian R Sampson and D Mark Davies

    Published Online : 15 JAN 2012, DOI: 10.1002/9780470015902.a0005934.pub2

  13. Transcriptional and post-translational modifications of B-Raf in quinol-thioether induced tuberous sclerosis renal cell carcinoma

    Molecular Carcinogenesis

    Volume 55, Issue 8, August 2016, Pages: 1243–1250, Jennifer D. Cohen, Matthew Labenski, Nicholas J. Mastrandrea, Ryan D. Canatsey, Terrence J. Monks and Serrine S. Lau

    Version of Record online : 31 AUG 2015, DOI: 10.1002/mc.22366

  14. You have full text access to this OnlineOpen article
    Mourning Dr. Alfred G. Knudson: the two-hit hypothesis, tumor suppressor genes, and the tuberous sclerosis complex

    Cancer Science

    Volume 108, Issue 1, January 2017, Pages: 5–11, Okio Hino and Toshiyuki Kobayashi

    Version of Record online : 23 JAN 2017, DOI: 10.1111/cas.13116

  15. You have free access to this content
    Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex

    Developmental Medicine & Child Neurology

    Volume 56, Issue 12, December 2014, Pages: 1207–1211, Susana Boronat, Paul Caruso and Elizabeth A Thiele

    Version of Record online : 20 JUN 2014, DOI: 10.1111/dmcn.12523

  16. You have free access to this content
    Insulin like growth factor-1-induced phosphorylation and altered distribution of tuberous sclerosis complex (TSC)1/TSC2 in C2C12 myotubes

    The FEBS Journal

    Volume 277, Issue 9, May 2010, Pages: 2180–2191, Mitsunori Miyazaki, John J. McCarthy and Karyn A. Esser

    Version of Record online : 7 APR 2010, DOI: 10.1111/j.1742-4658.2010.07635.x

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    Muscle atrophy in transgenic mice expressing a human TSC1 transgene

    FEBS Letters

    Volume 580, Issue 24, October 16, 2006, Pages: 5621–5627, Min Wan, Xiaohui Wu, Kun-Liang Guan, Min Han, Yuan Zhuang and Tian Xu

    Version of Record online : 18 SEP 2006, DOI: 10.1016/j.febslet.2006.09.008

  18. Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study

    Developmental Medicine & Child Neurology

    Volume 59, Issue 10, October 2017, Pages: 1071–1076, Susana Boronat, Elizabeth Anne Thiele and Paul Caruso

    Version of Record online : 8 AUG 2017, DOI: 10.1111/dmcn.13499

  19. Regulation of cell morphology and adhesion by the tuberous sclerosis complex (TSC1/2) gene products in human kidney epithelial cells through increased E-cadherin/β-catenin activity

    Molecular Carcinogenesis

    Volume 37, Issue 2, June 2003, Pages: 98–109, Shaowei Li, Richard Braverman, Hongzhen Li, William C. Vass, Douglas R. Lowy and Jeffrey E. DeClue

    Version of Record online : 19 MAY 2003, DOI: 10.1002/mc.10125

  20. Tuberous Sclerosis Complex and the Mammalian Target of Rapamycin Pathways

    Standard Article

    eLS

    Jane Yu

    Published Online : 15 SEP 2010, DOI: 10.1002/9780470015902.a0022388