Hasil Pencarian - Celine Schaeffer

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  1. 1
    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. oleh Céline Schaeffer, Stefania Merella, Elena Pasqualetto, Dejan Lazarevic, Luca Rampoldi

    Diterbitkan 2017-01-01
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  2. 2
    Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease

    Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease oleh Céline Schaeffer, Maurizio De Fusco, Elena Pasqualetto, Caterina Scolari, Claudia Izzi, Francesco Scolari, Luca Rampoldi

    Diterbitkan 2023-06-01
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  3. 3
    Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease

    Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease oleh Guglielmo Schiano, Jennifer Lake, Marta Mariniello, Céline Schaeffer, Marianne Harvent, Luca Rampoldi, Eric Olinger, Olivier Devuyst

    Diterbitkan 2023-12-01
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  4. 4
    α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response

    α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response oleh Francesco Consolato, Maurizio De Fusco, Céline Schaeffer, Federico Pieruzzi, Francesco Scolari, Maurizio Gallieni, Chiara Lanzani, Sandro Feriozzi, Luca Rampoldi

    Diterbitkan 2022-12-01
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  5. 5
    Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy

    Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy oleh François Girodon, Céline Schaeffer, Cédric Cleyrat, Morgane Mounier, Ingrid Lafont, Frédéric Dos Santos, Aurélie Vidal, Marc Maynadié, Sylvie Hermouet

    Diterbitkan 2008-11-01
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  6. 6
    Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations

    Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations oleh Matteo Trudu, Celine Schaeffer, Michela Riba, Masami Ikehata, Paola Brambilla, Piergiorgio Messa, Filippo Martinelli-Boneschi, Maria Pia Rastaldi, Luca Rampoldi

    Diterbitkan 2017-08-01
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  7. 7
    Significant increase in the apparent incidence of essential thrombocythemia related to new WHO diagnostic criteria: a population-based study

    Significant increase in the apparent incidence of essential thrombocythemia related to new WHO diagnostic criteria: a population-based study oleh François Girodon, Gilles Bonicelli, Céline Schaeffer, Morgane Mounier, Serge Carillo, Ingrid Lafon, Paule Marie Carli, Inès Janoray, Emmanuelle Ferrant, Marc Maynadié

    Diterbitkan 2009-06-01
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  8. 8
    Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

    Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein oleh Céline Schaeffer, Claudia Izzi, Andrea Vettori, Elena Pasqualetto, Davide Cittaro, Dejan Lazarevic, Gianluca Caridi, Barbara Gnutti, Cinzia Mazza, Luca Jovine, Francesco Scolari, Luca Rampoldi

    Diterbitkan 2019-08-01
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  9. 9
    Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing.

    Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing. oleh Anna Köttgen, Qiong Yang, Lawrence C Shimmin, Adrienne Tin, Céline Schaeffer, Josef Coresh, Xuan Liu, Luca Rampoldi, Shih-Jen Hwang, Eric Boerwinkle, James E Hixson, W H Linda Kao, Caroline S Fox

    Diterbitkan 2012-01-01
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  10. 10
    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 oleh Martina Brunati, Simone Perucca, Ling Han, Angela Cattaneo, Francesco Consolato, Annapaola Andolfo, Céline Schaeffer, Eric Olinger, Jianhao Peng, Sara Santambrogio, Romain Perrier, Shuo Li, Marcel Bokhove, Angela Bachi, Edith Hummler, Olivier Devuyst, Qingyu Wu, Luca Jovine, Luca Rampoldi

    Diterbitkan 2015-12-01
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  11. 11
    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 oleh Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. 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

    Diterbitkan 2020-09-01
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