Search Results - Mark Nellist

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  1. 1
    Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7)

    Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7) by Jiayue Qin, Zhizhi Wang, Marianne Hoogeveen‐Westerveld, Guobo Shen, Weimin Gong, Mark Nellist, Wenqing Xu

    Published 2016
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  2. 2
    Structure of the TBC1D7–TSC1 complex reveals that TBC1D7 stabilizes dimerization of the TSC1 C-terminal coiled coil region

    Structure of the TBC1D7–TSC1 complex reveals that TBC1D7 stabilizes dimerization of the TSC1 C-terminal coiled coil region by Zhongchao Gai, Wendan Chu, Wei Deng, Wenqi Li, Hua Li, Ailiang He, Mark Nellist, Geng Wu

    Published 2016
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  3. 3
    Characterization of the Cytosolic Tuberin-Hamartin Complex

    Characterization of the Cytosolic Tuberin-Hamartin Complex by Mark Nellist, Marjon A. van Slegtenhorst, Miriam Goedbloed, Ans M.W. van den Ouweland, Dicky Halley, Peter van der Sluijs

    Published 1999
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  4. 4
    Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

    Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex... by Őzgür Sancak, Mark Nellist, Miriam Goedbloed, Peter Elfferich, Carine Wouters, Anneke Maat‐Kievit, Bernard A. Zonnenberg, Senno Verhoef, Dicky Halley, Ans van den Ouweland

    Published 2005
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  5. 5
    Rheb Is Essential for Murine Development

    Rheb Is Essential for Murine Development by Susanna M. I. Goorden, Marianne Hoogeveen‐Westerveld, Caroline Cheng, Geeske M. van Woerden, Melika Mozaffari, Laura Post, Henricus J. Duckers, Mark Nellist, Ype Elgersma

    Published 2011
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  6. 6
    Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex

    Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex by Mark Nellist, Őzgür Sancak, Miriam Goedbloed, Christan F. Rohé, Diana van Netten, Karin Mayer, Aimee Tucker-Williams, Ans M.W. van den Ouweland, Dicky Halley

    Published 2004
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  7. 7
    RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity

    RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity by Martina Proietti Onori, Linda M. C. Koene, Carmen B. Schäfer, Mark Nellist, Marcel de Brito van Velze, Zhenyu Gao, Ype Elgersma, Geeske M. van Woerden

    Published 2021
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  8. 8
    Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

    Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation by Marjon van Slegtenhorst, Senno Verhoef, A.M.P. Tempelaars, Lida Bakker, Qi Wang, Marja W. Wessels, Remco Bakker, Mark Nellist, Dick Lindhout, Dicky Halley, Ans van den Ouweland

    Published 1999
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  9. 9
    Fetal Brain Lesions in Tuberous Sclerosis Complex: <scp>TORC1</scp> Activation and Inflammation

    Fetal Brain Lesions in Tuberous Sclerosis Complex: <scp>TORC1</scp> Activation and Inflammation by Avanita S. Prabowo, Jasper J. Anink, Martin Lammens, Mark Nellist, Ans M.W. van den Ouweland, Homa Adle‐Biassette, Harvey B. Sarnat, Laura Flores‐Sarnat, Peter B. Crino, Eleonora Aronica

    Published 2012
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  10. 10
    Comparison of the functional and structural characteristics of rare <i>TSC2</i> variants with clinical and genetic findings

    Comparison of the functional and structural characteristics of rare <i>TSC2</i> variants with clinical and genetic findings by Luiz Gustavo Dufner‐Almeida, Santoesha Nanhoe, Andrea Zonta, Mitra Hosseinzadeh, Regina Kom‐Gortat, Peter Elfferich, Gerben Schaaf, Annegien Kenter, Daniel Kümmel, Nicola Migone, Sue Povey, Rosemary Ekong, Mark Nellist

    Published 2019
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  11. 11
    Phosphatidylinositol 3-Kinase/Akt Pathway Regulates Tuberous Sclerosis Tumor Suppressor Complex by Phosphorylation of Tuberin

    Phosphatidylinositol 3-Kinase/Akt Pathway Regulates Tuberous Sclerosis Tumor Suppressor Complex by Phosphorylation of Tuberin by Han C. Dan, Mei Sun, Lin Yang, Richard I. Feldman, Xue-Mei Sui, Chien Chen Ou, Mark Nellist, Raymond S. Yeung, Dicky Halley, Santo V. Nicosia, W. J. Pledger, Jin Cheng

    Published 2002
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  12. 12
    Gene Expression Analysis of Tuberous Sclerosis Complex Cortical Tubers Reveals Increased Expression of Adhesion and Inflammatory Factors

    Gene Expression Analysis of Tuberous Sclerosis Complex Cortical Tubers Reveals Increased Expression of Adhesion and Inflammatory Factors by Karin Boer, Peter B. Crino, Jan A. Gorter, Mark Nellist, Floor E. Jansen, Wim G.M. Spliet, Peter C. van Rijen, Floyd Wittink, Timo M. Breit, Dirk Troost, Wytse J. Wadman, Eleonora Aronica

    Published 2009
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  13. 13
    PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex

    PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex by Maria M. Alves, Gwenny M. Fuhler, Karla Queiroz, Jetse Scholma, Susan Goorden, Jasper J. Anink, C. Arnold Spek, Marianne Hoogeveen‐Westerveld, Marco J. Bruno, Mark Nellist, Ype Elgersma, Eleonora Aronica, Maikel P. Peppelenbosch

    Published 2015
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  14. 14
    TSC1 binding to lysosomal PIPs is required for TSC complex translocation and mTORC1 regulation

    TSC1 binding to lysosomal PIPs is required for TSC complex translocation and mTORC1 regulation by Katharina Fitzian, Anne Brückner, Laura Brohée, Reinhard Zech, Claudia Antoni, Stephan Kiontke, Raphael Gasper, Anna L. L. Matos, Stephanie Beel, Sabine Wilhelm, Volker Gerke, Christian Ungermann, Mark Nellist, Stefan Raunser, Constantinos Demetriades, Andrea Oeckinghaus, Daniel Kümmel

    Published 2021
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  15. 15
    Genotype and brain pathology phenotype in children with tuberous sclerosis complex

    Genotype and brain pathology phenotype in children with tuberous sclerosis complex by Iris E. Overwater, Rob Swenker, Emma L. van der Ende, Kimberley BM Hanemaayer, Marianne Hoogeveen‐Westerveld, Agnies M. van Eeghen, Maarten H. Lequin, A M van den Ouweland, Henriëtte A. Moll, Mark Nellist, Marie‐Claire Y. de Wit

    Published 2016
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  16. 16
    Functional Assessment of<i>TSC2</i>Variants Identified in Individuals with Tuberous Sclerosis Complex

    Functional Assessment of<i>TSC2</i>Variants Identified in Individuals with Tuberous Sclerosis Complex by Marianne Hoogeveen‐Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, N. Lannoy, Frances Elmslie, Martina Bebin, Kira A. Dies, Catherine Thompson, Steven Sparagana, Peter Maxwell Davies, Agnies M. van Eeghen, Elizabeth A. Thiele, Ans van den Ouweland, Dicky Halley, Mark Nellist

    Published 2013
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  17. 17
    Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex

    Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex by Luiz Gustavo Dufner‐Almeida, Laís Faria Masulk Cardozo, Mariana Richartz Schwind, Danielly Carvalho, Juliana Paula Gomes de Almeida, Andréa Maria Cappellano, Thiago Gerônimo Pires Alegria, Santoesha Nanhoe, Mark Nellist, Maria Rita Passos‐Bueno, Silvana Chiavegatto, Nasjla S Silva, Sérgio Rosemberg, Ana Paula Aparecida Pereira, Sérgio Antônio Antoniuk, Luciana A. Haddad

    Published 2024
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  18. 18
    Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

    Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations by Mark Nellist, Rutger W. W. Brouwer, Christel Kockx, Monique van Veghel‐Plandsoen, Caroline Withagen-Hermans, Lida Prins-Bakker, Marianne Hoogeveen‐Westerveld, Alan Mršić, Mike MP van den Berg, Anna E. Koopmans, Marie‐Claire Y. de Wit, Floor E. Jansen, Anneke Maat‐Kievit, Ans van den Ouweland, Dicky Halley, Annelies de Klein, Wilfred F. J. van IJcken

    Published 2015
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  19. 19
    Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex

    Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex by Marianne Hoogeveen‐Westerveld, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T. den Dunnen, Kay Metcalfe, Stephanie E. Vallee, Stefan Krueger, JoAnn Bergoffen, Vandana Shashi, Frances Elmslie, David J. Kwiatkowski, Julian R. Sampson, C. Vidales, Jacinta Dzarir, Javier Garcı́a-Planells, Kira A. Dies, Anneke Maat‐Kievit, Ans van den Ouweland, Dicky Halley, Mark Nellist

    Published 2011
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  20. 20
    Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex

    Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex by Angelika Mühlebner, Jackelien van Scheppingen, Hanna M. Hulshof, Theresa O. Scholl, Anand M. Iyer, Jasper J. Anink, Ans M.W. van den Ouweland, Mark Nellist, Floor E. Jansen, Wim G.M. Spliet, Pavel Kršek, Barbora Beňová, Josef Zámečnı́k, Peter B. Crino, Daniela Prayer, Thomas Czech, Adelheid Wöhrer, Jasmin Rahimi, Romana Höftberger, Johannes A. Hainfellner, Martha Feucht, Eleonora Aronica

    Published 2016
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