Search Results

There are 2431 results for: content related to: Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds

  1. 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

    Article first published online : 8 MAR 2011, DOI: 10.1002/humu.21451

  2. Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 167–175, Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, Nathalie Lannoy, Frances Elmslie, Martina Bebin, Kira Dies, Catherine Thompson, Steven P. Sparagana, Peter Davies, Ans van den Ouweland, Dicky Halley and Mark Nellist

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22202

    Corrected by:

    Errata: Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

    Vol. 34, Issue 2, 409–410, Article first published online: 7 JAN 2013

  3. You have free access to this content
    Eccentric contractions increase the phosphorylation of tuberous sclerosis complex-2 (TSC2) and alter the targeting of TSC2 and the mechanistic target of rapamycin to the lysosome

    The Journal of Physiology

    Volume 591, Issue 18, September 2013, Pages: 4611–4620, Brittany L. Jacobs, Jae-Sung You, John W. Frey, Craig A. Goodman, David M. Gundermann and Troy A. Hornberger

    Article first published online : 28 JUN 2013, DOI: 10.1113/jphysiol.2013.256339

  4. You have full text access to this OnlineOpen article
    The orphan receptor TR3 participates in angiotensin II-induced cardiac hypertrophy by controlling mTOR signalling

    EMBO Molecular Medicine

    Volume 5, Issue 1, January 2013, Pages: 137–148, Rong-Hao Wang, Jian-Ping He, Mao-Long Su, Jie Luo, Ming Xu, Xiao-Dan Du, Hang-Zi Chen, Wei-Jia Wang, Yuan Wang, Nan Zhang, Bi-Xing Zhao, Wen-Xiu Zhao, Zhong-Gui Shan, Jiahuai Han, Chawnshang Chang and Qiao Wu

    Article first published online : 29 NOV 2012, DOI: 10.1002/emmm.201201369

  5. You have free access to this content
    Tuberous sclerosis-2 (TSC2) regulates the stability of death-associated protein kinase-1 (DAPK) through a lysosome-dependent degradation pathway

    FEBS Journal

    Volume 278, Issue 2, January 2011, Pages: 354–370, Yao Lin, Paul Henderson, Susanne Pettersson, Jack Satsangi, Ted Hupp and Craig Stevens

    Article first published online : 6 DEC 2010, DOI: 10.1111/j.1742-4658.2010.07959.x

  6. Correlation between tuberous sclerosis complex 2 and glycogen synthase kinase 3 beta levels, and outcomes of patients with hepatocellular carcinoma treated by hepatectomy

    Hepatology Research

    Volume 44, Issue 11, October 2014, Pages: 1142–1150, Ka-Te Huang, Yue-Han Huang, Peng Li, Bin He, Zhen-Kun Chen, Xia Yu, Jian-Ou Chen, Qi-Yu Zhang, Hong-Qi Shi and Yun-Feng Shan

    Article first published online : 8 NOV 2013, DOI: 10.1111/hepr.12256

  7. 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

    FEBS Journal

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

    Article first published online : 7 APR 2010, DOI: 10.1111/j.1742-4658.2010.07635.x

  8. Pulmonary lymphangioleiomyomatosis (LAM): Progress and current challenges

    Journal of Cellular Biochemistry

    Volume 103, Issue 2, 1 February 2008, Pages: 369–382, Elena A. Goncharova and Vera P. Krymskaya

    Article first published online : 31 MAY 2007, DOI: 10.1002/jcb.21419

  9. You have free access to this content
    Identification of novel single amino acid changes that result in hyperactivation of the unique GTPase, Rheb, in fission yeast

    Molecular Microbiology

    Volume 58, Issue 4, November 2005, Pages: 1074–1086, Jun Urano, Melissa J. Comiso, Lea Guo, Paul-Joseph Aspuria, Roman Deniskin, Angel P. Tabancay Jr, Juran Kato-Stankiewicz and Fuyuhiko Tamanoi

    Article first published online : 29 SEP 2005, DOI: 10.1111/j.1365-2958.2005.04877.x

  10. You have free access to this content
    Early activation of mTORC1 signalling in response to mechanical overload is independent of phosphoinositide 3-kinase/Akt signalling

    The Journal of Physiology

    Volume 589, Issue 7, April 2011, Pages: 1831–1846, Mitsunori Miyazaki, John J. McCarthy, Mark J. Fedele and Karyn A. Esser

    Article first published online : 30 MAR 2011, DOI: 10.1113/jphysiol.2011.205658

  11. Tubers from patients with tuberous sclerosis complex are characterized by changes in microtubule biology through ROCK2 signalling

    The Journal of Pathology

    Volume 233, Issue 3, July 2014, Pages: 247–257, Isidre Ferrer, Pooja Mohan, Helen Chen, Joan Castellsague, Laia Gómez-Baldó, Marga Carmona, Nadia García, Helena Aguilar, Jihong Jiang, Margaretha Skowron, Mark Nellist, Israel Ampuero, Antonio Russi, Conxi Lázaro, Christopher A Maxwell and Miguel Angel Pujana

    Article first published online : 29 APR 2014, DOI: 10.1002/path.4343

  12. Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy

    Epileptic Disorders

    Volume 16, Issue 4, December 2014, Pages: 449–455, Jin Sook Lee, Byung Chan Lim, Jong-Hee Chae, Yong Seung Hwang, Moon-Woo Seong, Sung Sup Park and Ki Joong Kim

    Article first published online : 13 JAN 2015, DOI: 10.1684/epd.2014.0712

  13. You have free access to this content
    E3 ubiquitin ligase E6AP-mediated TSC2 turnover in the presence and absence of HPV16 E6

    Genes to Cells

    Volume 13, Issue 3, March 2008, Pages: 285–294, Li Zheng, Huirong Ding, Zheming Lu, Yong Li, Yaqi Pan, Tao Ning and Yang Ke

    Article first published online : 21 FEB 2008, DOI: 10.1111/j.1365-2443.2008.01162.x

  14. The tuberous sclerosis complex

    Annals of the New York Academy of Sciences

    Volume 1184, Issue 1, January 2010, Pages: 87–105, Ksenia A. Orlova and Peter B. Crino

    Article first published online : 24 NOV 2009, DOI: 10.1111/j.1749-6632.2009.05117.x

  15. Comparative analysis of Tsc1 and Tsc2 single and double radial glial cell mutants

    Journal of Comparative Neurology

    Volume 521, Issue 16, November 2013, Pages: 3817–3831, Ulrike Mietzsch, James McKenna III, R. Michelle Reith, Sharon W. Way and Michael J. Gambello

    Article first published online : 25 SEP 2013, DOI: 10.1002/cne.23380

  16. Efficacy of a rapamycin analog (CCI-779) and IFN-γ in tuberous sclerosis mouse models

    Genes, Chromosomes and Cancer

    Volume 42, Issue 3, March 2005, Pages: 213–227, Laifong Lee, Paul Sudentas, Brian Donohue, Kirsten Asrican, Aelaf Worku, Victoria Walker, Yanping Sun, Karl Schmidt, Mitchell S. Albert, Nisreen El-Hashemite, Alan S. Lader, Hiroaki Onda, Hongbing Zhang, David J. Kwiatkowski and Sandra L. Dabora

    Article first published online : 1 DEC 2004, DOI: 10.1002/gcc.20118

  17. Analysis of all exons of tsc1 and tsc2 genes for germline mutations in Japanese patients with tuberous sclerosis: Report of 10 mutations

    American Journal of Medical Genetics

    Volume 90, Issue 2, 17 January 2000, Pages: 123–126, Yokihiko Yamashita, Jiro Ono, Shintaro Okada, Mari Wataya-Kaneda, Kunihiko Yoshikawa, Masae Nishizawa, Youko Hirayama, Etuko Kobayashi, Kuniaki Seyama and Okio Hino

    Article first published online : 3 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000117)90:2<123::AID-AJMG7>3.0.CO;2-L

  18. 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

    Article first published online : 17 JAN 2012, DOI: 10.1002/humu.22007

  19. You have free access to this content
    A modelling–experimental approach reveals insulin receptor substrate (IRS)-dependent regulation of adenosine monosphosphate-dependent kinase (AMPK) by insulin

    FEBS Journal

    Volume 279, Issue 18, September 2012, Pages: 3314–3328, Annika G. Sonntag, Piero Dalle Pezze, Daryl P. Shanley and Kathrin Thedieck

    Article first published online : 3 MAY 2012, DOI: 10.1111/j.1742-4658.2012.08582.x

  20. You have full text access to this OnlineOpen article
    Regulation of TFEB and V-ATPases by mTORC1

    The EMBO Journal

    Volume 30, Issue 16, August 17, 2011, Pages: 3242–3258, Samuel Peña-Llopis, Silvia Vega-Rubin-de-Celis, Jacob C Schwartz, Nicholas C Wolff, Tram Anh T Tran, Lihua Zou, Xian-Jin Xie, David R Corey and James Brugarolas

    Article first published online : 29 JUL 2011, DOI: 10.1038/emboj.2011.257