Céline Schaeffer - Dissemin

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All papers authored by Céline Schaeffer

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2023 Guglielmo Schiano

ORCID

, Jennifer Lake

ORCID

, Marta Mariniello

ORCID

, Céline Schaeffer

ORCID

, Marianne Harvent, Luca Rampoldi

ORCID

ORCID

, Olivier Devuyst

ORCID

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease

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Céline Schaeffer

ORCID

, Maurizio De Fusco

ORCID

, Elena Pasqualetto

ORCID

, Caterina Scolari, Claudia Izzi

ORCID

, Francesco Scolari

ORCID

, Luca Rampoldi

ORCID

Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2022 Guglielmo Schiano, Jennifer Lake, Marta Mariniello, Céline Schaeffer

ORCID

, Marianne Harvent, Luca Rampoldi, Eric Olinger, Olivier Devuyst

Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney Disease

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Eric Olinger, Céline Schaeffer

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, Kendrah Kidd, Elhussein A. E. Elhassan, Yurong Cheng, Inès Dufour, Guglielmo Schiano, Holly Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel G. Fuster, Andreas D. Kistler, Ian J. Wilson, Stanislav Kmoch, Laure Raymond and 69 other authors

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

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2021 Céline Schaeffer

ORCID

, Olivier Devuyst, Luca Rampoldi

Uromodulin: Roles in Health and Disease

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2020 Céline Schaeffer

ORCID

ORCID

Clinical and genetic spectra of kidney disease caused by REN mutations

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Kendrah Kidd, Petr Vylet’al, Céline Schaeffer

ORCID

, 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 and 27 other authors

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

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Eric Olinger

ORCID

, Patrick Hofmann, Kendrah Kidd, Ines Dufour, Hendrica Belge, Céline Schaeffer

ORCID

, Anne Kipp, Olivier Bonny, Constantinos Deltas, Nathalie Demoulin

ORCID

ORCID

, Daniel G. Fuster, Daniel P. Gale

ORCID

ORCID

, Kateøina Hodanova and 18 other authors

Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1

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Alena Stsiapanava

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ORCID

, Martina Brunati

ORCID

, Sara Zamora-Caballero

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, Céline Schaeffer

ORCID

, Marcel Bokhove

ORCID

, Ling Han

ORCID

ORCID

, Marta Carroni

ORCID

, Shigeki Yasumasu

ORCID

, Luca Rampoldi

ORCID

, Bin Wu

ORCID

ORCID

Cryo-EM Structure of Native Human Uromodulin, a Zona Pellucida Module Polymer

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2019 Céline Schaeffer

ORCID

, Claudia Izzi, Andrea Vettori

ORCID

, Elena Pasqualetto, Davide Cittaro

ORCID

, Dejan Lazarevic

ORCID

, Gianluca Caridi

ORCID

, Barbara Gnutti, Cinzia Mazza, Luca Jovine

ORCID

, Francesco Scolari, Luca Rampoldi

ORCID

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

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2018 Quentin Tavernier, Evangeline Bennana, Virginie Poindessous, Celine Schaeffer

ORCID

, Luca Rampoldi

ORCID

, Nicolas Pietrancosta, Nicolas Pallet

ORCID

Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1)

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2017 Matteo Trudu, Celine Schaeffer

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, Michela Riba, Masami Ikehata, Paola Brambilla, Piergiorgio Messa, Filippo Martinelli-Boneschi

ORCID

, Maria Pia Rastaldi, Luca Rampoldi

ORCID

Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations

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Céline Schaeffer

ORCID

, Stefania Merella, Elena Pasqualetto, Dejan Lazarevic, Luca Rampoldi

ORCID

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

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2015 Martina Brunati, Simone Perucca, Ling Han, Angela Cattaneo, Francesco Consolato, Céline Schaeffer

ORCID

, Annapaola Andolfo, Eric Olinger, Jianhao Peng, Sara Santambrogio, Romain Perrier, Shuo Li, Marcel Bokhove, Angela Bachi, Edith Hummler and 4 other authors

The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin

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2014 Céline Schaeffer

ORCID

, Anna Creatore, Luca Rampoldi

Protein trafficking defects in inherited kidney diseases

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2013 Matteo Trudu, Sylvie Janas, Chiara Lanzani, Huguette Debaix, Céline Schaeffer

ORCID

, Masami Ikehata, Lorena Citterio, Sylvie Demaretz, Francesco Trevisani, Giuseppe Ristagno

ORCID

, Bruno Vogt, Bob Glaudemans, Giacomo Dell’Antonio, Murielle Bochud, Kamel Laghmani and 17 other authors

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

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2012 Anna Köttgen, Qiong Yang, Lawrence C. Shimmin, Adrienne Tin, Céline Schaeffer

ORCID

, Josef Coresh, Xuan Liu, Luca Rampoldi, Shih-Jen Hwang, Eric Boerwinkle, James E. Hixson, W. H. Linda Kao, W. H. Linda Kao, Caroline S. Fox

Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region Sequencing

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Céline Schaeffer

ORCID

, Angela Cattaneo, Matteo Trudu, Sara Santambrogio, Ilenia Bernascone, Daniela Giachino, Gianluca Caridi, Andrea Campo, Corrado Murtas, Simona Benoni, Claudia Izzi, Mario De Marchi, Antonio Amoroso

ORCID

, Gian Marco Ghiggeri, Francesco Scolari and 2 other authors

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

C. Schaeffer

ORCID

, A. Cattaneo, M. Trudu, S. Santambrogio, I. Bernascone, D. Giachino, G. Caridi, A. Campo, C. Murtas, S. Benoni, C. Izzi, M. De Marchi, A. Amoroso, Ghiggeri Gm, F. Scolari and 2 other authors

[Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates].

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2010 Ilenia Bernascone, Sylvie Janas, Masami Ikehata, Matteo Trudu, Alessandro Corbelli, Céline Schaeffer

ORCID

, Maria Pia Rastaldi, Olivier Devuyst, Luca Rampoldi

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

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