Search Results - Céline Schaeffer

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  1. 1
    The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif

    The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif by Céline Schaeffer

    Published 2001
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  2. 2
    Uromodulin: Roles in Health and Disease

    Uromodulin: Roles in Health and Disease by Céline Schaeffer, Olivier Devuyst, Luca Rampoldi

    Published 2021
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  3. 3
    Hepatitis B Virus X Protein Stimulates Viral Genome Replication via a DDB1-Dependent Pathway Distinct from That Leading to Cell Death

    Hepatitis B Virus X Protein Stimulates Viral Genome Replication via a DDB1-Dependent Pathway Distinct from That Leading to Cell Death by Olivier Leupin, Séverine Bontron, Céline Schaeffer, Michel Strubin

    Published 2005
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  4. 4
    Analysis of Uromodulin Polymerization Provides New Insights into the Mechanisms Regulating ZP Domain-mediated Protein Assembly

    Analysis of Uromodulin Polymerization Provides New Insights into the Mechanisms Regulating ZP Domain-mediated Protein Assembly by Céline Schaeffer, S Santambrogio, Simone Perucca, Giorgio Casari, Luca Rampoldi

    Published 2008
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  5. 5
    Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response

    Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response by Céline Schaeffer, Stefania Merella, Elena Pasqualetto, Dejan Lazarević, Luca Rampoldi

    Published 2017
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  6. 6
    The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer

    The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer by Marie-Cécile Didiot, Zhaoxia Tian, Céline Schaeffer, Murugan Subramanian, Jean‐Louis Mandel, Hervé Moine

    Published 2008
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  7. 7
    A Single Internal Ribosome Entry Site Containing a G Quartet RNA Structure Drives Fibroblast Growth Factor 2 Gene Expression at Four Alternative Translation Initiation Codons

    A Single Internal Ribosome Entry Site Containing a G Quartet RNA Structure Drives Fibroblast Growth Factor 2 Gene Expression at Four Alternative Translation Initiation Codons by Sophie Bonnal, Céline Schaeffer, Laurent Créancier, Simone Clamens, Hervé Moine, Anne‐Catherine Prats, Stéphan Vagner

    Published 2003
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  8. 8
    Hepatitis B virus X protein affects S phase progression leading to chromosome segregation defects by binding to damaged DNA binding protein 1

    Hepatitis B virus X protein affects S phase progression leading to chromosome segregation defects by binding to damaged DNA binding protein 1 by Silvia Martin Lluesma, Céline Schaeffer, Eva Isabelle Robert, Pieter C. Van Breugel, Olivier Leupin, O. Hantz, Michel Strubin

    Published 2008
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  9. 9
    A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure

    A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure by Ilenia Bernascone, Sylvie Janas, Masami Ikehata, Matteo Trudu, Alessandro Corbelli, Céline Schaeffer, Maria Pia Rastaldi, Olivier Devuyst, Luca Rampoldi

    Published 2010
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  10. 10
    FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts

    FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts by Marie Castets, Céline Schaeffer, Elías Bechara, Annette Schenck, E.W. Khandjian, Sylvie Luche, Hervé Moine, Thierry Rabilloud, Jean‐Louis Mandel, Barbara Bardoni

    Published 2005
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  11. 11
    Cryo‐EM structure of native human uromodulin, a zona pellucida module polymer

    Cryo‐EM structure of native human uromodulin, a zona pellucida module polymer by Alena Stsiapanava, Chenrui Xu, Martina Brunati, Sara Zamora‐Caballero, Céline Schaeffer, Marcel Bokhove, Ling Han, Hans Hebert, Marta Carroni, Shigeki Yasumasu, Luca Rampoldi, Bin Wu, Luca Jovine

    Published 2020
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  12. 12
    The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin

    The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin by Martina Brunati, Simone Perucca, Ling Han, Angela Cattaneo, Francesco Consolato, Annapaola Andolfo, Céline Schaeffer, Eric Olinger, Jianhao Peng, S Santambrogio, Romain Perrier, Shuo Li, Marcel Bokhove, Angela Bachi, Edith Hümmler, Olivier Devuyst, Qingyu Wu, Luca Jovine, Luca Rampoldi

    Published 2015
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  13. 13
    Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

    Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression by Matteo Trudu, Sylvie Janas, Chiara Lanzani, Huguette Debaix, Céline Schaeffer, Masami Ikehata, Lorena Citterio, Sylvie Demaretz, Francesco Trevisani, Giuseppe Ristagno, Bob Glaudemans, Kamel Laghmani, Giacomo Dell’Antonio, Johannes Loffing, Maria Pia Rastaldi, Paolo Manunta, Olivier Devuyst, Luca Rampoldi

    Published 2013
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  14. 14
    Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

    Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 by Eric Olinger, Patrick Hofmann, Kendrah Kidd, Inès Dufour, Hendrica Belge, Céline Schaeffer, Anne Kipp, Olivier Bonny, Constantinos Deltas, Nathalie Demoulin, Thomas Fehr, Daniel G. Fuster, Daniel P. Gale, Éric Goffin, Kateřina Hodaňová, Uyen Huynh‐Do, Andreas D. Kistler, Johann Morelle, Gregory Papagregoriou, Yves Pirson, Richard Sandford, John A. Sayer, Roser Torrá, Christina Venzin, Reto Venzin, Bruno Vogt, Martina Živná, Anna Greka, Karin Dahan, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer, Olivier Devuyst

    Published 2020
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  15. 15
    Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

    Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations by Kendrah Kidd, Petr Vyleťal, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofía Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva C. Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer

    Published 2020
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  16. 16
    An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease

    An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease by Eric Olinger, Céline Schaeffer, Kendrah Kidd, Elhussein A. Elhassan, Yurong Cheng, Inès Dufour, Guglielmo Schiano, Holly Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel G. Fuster, Andreas D. Kistler, Ian Wilson, Stanislav Kmoch, Laure Raymond, Thomas Robert, Kai‐Uwe Eckardt, Anthony J. Bleyer, Anna Köttgen, Peter J. Conlon, Michael S. Wiesener, John A. Sayer, Luca Rampoldi, Olivier Devuyst, John C. Ambrose, Paramasivam Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Myles Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Steve Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, A. Lakey, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, J. Mitchell, Loukas Moutsianas, Marcus Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Miguel Basto-Pereira, J. Pullinger, T. Rahim, Álvaro Rendón, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Erik A. Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki

    Published 2022
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