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Displaying 19 results.
    • Journal article
    An intermediate-effect size variant in UMOD confers risk for chronic kidney disease
    Olinger, Eric Schaeffer, Céline Kidd, Kendrah Elhassan, Elhussein A. E. Cheng, Yurong Dufour, Inès Schiano, Guglielmo Mabillard, Holly Pasqualetto, Elena Hofmann, Patrick Fuster, Daniel G. Kistler, Andreas D. Wilson, Ian J. Kmoch, Stanislav Raymond, Laure Robert, Thomas Eckardt, Kai-Uwe Bleyer, Anthony J. Köttgen, Anna Conlon, Peter J. Wiesener, Michael Sayer, John A. Rampoldi, Luca Devuyst, Olivier[UCL] (2022) Proceedings of the National Academy of Sciences of the United States of America — Vol. 119, no. 33, p. e2114734119 [1-11] (2022)
    • Journal article
    Uromodulin: Roles in Health and Disease
    Schaeffer, Céline Devuyst, Olivier[UCL] Rampoldi, Luca (2021) Annual review of physiology — Vol. 83, no. 1, p. 477-501 (2021)
    • Journal article
    The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution.
    Ghirotto, Silvia Tassi, Francesca Barbujani, Guido Pattini, Linda Hayward, Caroline Vollenweider, Peter Bochud, Murielle Rampoldi, Luca Devuyst, Olivier[UCL] (2016) Journal of the American Society of Nephrology — Vol. 27, no. 10, p. 2893-2996 (2016)
    • Journal article
    The effect of common uromodulin variants on urinary protein level and gene transcription
    Rampoldi, Luca Köttgen, Anna Devuyst, Olivier[UCL] (2013) Kidney International — Vol. 84, no.2, p. 410-411 (2013)
    • Journal article
    Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis
    Olinger, Eric Lake, Jennifer Sheehan, Susan Schiano, Guglielmo Takata, Tomoaki Tokonami, Natsuko Debaix, Huguette Consolato, Francesco Rampoldi, Luca Korstanje, Ron Devuyst, Olivier[UCL] (2019) Scientific Reports — Vol. 9, no.1 (2019)
    • Journal article
    Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression.
    Trudu, Matteo Janas, Sylvie Lanzani, Chiara Debaix, Huguette Schaeffer, Céline Ikehata, Masami Citterio, Lorena Demaretz, Sylvie Trevisani, Francesco Ristagno, Giuseppe Glaudemans, Bob Laghmani, Kamel Dell'Antonio, Giacomo Swiss Kidney Project on Genes in Hypertension (SKIPOGH) team Loffing, Johannes Rastaldi, Maria P Manunta, Paolo Devuyst, Olivier[UCL] Rampoldi, Luca (2013) Nature Medicine — Vol. 19, no.12, p. 1655-60 (2013)
    • Journal article
    Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
    Olden, Matthias Corre, Tanguy Hayward, Caroline Toniolo, Daniela Ulivi, Sheila Gasparini, Paolo Pistis, Giorgio Hwang, Shih-Jen Bergmann, Sven Campbell, Harry Cocca, Massimiliano Gandin, Ilaria Girotto, Giorgia Glaudemans, Bob Hastie, Nicholas Loffing, Johannes Polasek, Ozren Rampoldi, Luca Rudan, Igor Sala, Cinzia Traglia, Michela Vollenweider, Peter Vuckovic, Dragana Youhanna, Sandra[UCL] Weber, Julien[UCL] Wright, Alan F. Kutalik, Zoltán Bochud, Murielle Fox, Caroline S. Devuyst, Olivier[UCL] (2014) Journal of the American Society of Nephrology — Vol. 25, no. 8, p. 1869-1882 (2014)
    • Journal article
    Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1.
    Olinger, Eric[UCL] Hofmann, Patrick Kidd, Kendrah Dufour, Inès[UCL] Belge, Hendrica Schaeffer, Céline Kipp, Anne Bonny, Olivier Deltas, Constantinos Demoulin, Nathalie[UCL] Fehr, Thomas Fuster, Daniel G Gale, Daniel P Goffin, Eric[UCL] Hodanova, Kateřina Hyunh-Do, Uyen Kistler, Andreas D Morelle, Johann[UCL] Papagregoriou, Gregory Pirson, Yves[UCL] Sandford, Richard Sayer, John A Torra, Roser Venzin, Chritina Venzin, Reto Vogt, Bruno Živná, Martina Greka, Anna Dahan, Karin Rampoldi, Luca Kmoch, Stanislav Bleyer, Anthony J Sr Devuyst, Olivier[UCL] (2020) Kidney international — Vol. 98, no. 3, p. 717-731 (2020)
    • Journal article
    EUNEFRON, the European Network for the Study of Orphan Nephropathies
    Devuyst, Olivier[UCL] Meij, Iwan Jeunemaitre, Xavier Ronco, Pierre Antignac, Corinne Christensen, Erik I. Knoers, Nina V. Levtchenko, Elena N. Deen, Peter M. Müller, Dominik Wagner, Carsten A. Rampoldi, Luca van't Hoff, William G. (2009) Nephrology, Dialysis, Transplantation — Vol. 24, no. 7, p. 2011-2015 (2009)
    • Journal article
    The rediscovery of uromodulin (Tamm-Horsfall protein) : from tubulointerstitial nephropathy to chronic kidney disease.
    Rampoldi, Luca Scolari, Francesco Amoroso, Antonio Ghiggeri, Gianmarco Devuyst, Olivier[UCL] (2011) Kidney International — Vol. 80, no. 4, p. 338-47 (2011)
    • Journal article
    A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing.
    Glaudemans, Bob Terryn, Sara[UCL] Gölz, Nadine Brunati, Martina Cattaneo, Angela Bachi, Angela Al-Qusairi, Lama Ziegler, Urs Staub, Olivier Rampoldi, Luca Devuyst, Olivier[UCL] (2014) Pflügers Archiv - European journal of physiology — Vol. 466, no. 2, p. 343-356 (2014)
    • Journal article
    Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases.
    Li, Yong Cheng, Yurong Consolato, Francesco Schiano, Guglielmo Chong, Michael R Pietzner, Maik Nguyen, Ngoc Quynh H Scherer, Nora Biggs, Mary L Kleber, Marcus E Haug, Stefan Göçmen, Burulça Pigeyre, Marie Sekula, Peggy Steinbrenner, Inga Schlosser, Pascal Joseph, Christina B Brody, Jennifer A Grams, Morgan E Hayward, Caroline Schultheiss, Ulla T Krämer, Bernhard K Kronenberg, Florian Peters, Annette Seissler, Jochen Steubl, Dominik Then, Cornelia Wuttke, Matthias März, Winfried Eckardt, Kai-Uwe Gieger, Christian Boerwinkle, Eric Psaty, Bruce M Coresh, Josef Oefner, Peter J Pare, Guillaume Langenberg, Claudia Scherberich, Jürgen E Yu, Bing Akilesh, Shreeram Devuyst, Olivier[UCL] Rampoldi, Luca Köttgen, Anna (2022) JCI insight — Vol. 7, no.10, p. e157035 (2022)
    • Journal article
    A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure
    Bernascone, Ilenia Devuyst, Olivier[UCL] Janas, Sylvie[UCL] Ikehata, Masami Trudu, Matteo Corbelli, Alessandro Schaeffer, Celine Rastaldi, Maria Pia Rampoldi, Luca (2010) Human Molecular Genetics — Vol. 19, no. 15, p. 2998-3010 (2010)
    • Journal article
    Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.
    Schiano, Guglielmo Lake, Jennifer Mariniello, Marta Schaeffer, Céline Harvent, Marianne Rampoldi, Luca Olinger, Eric[UCL] Devuyst, Olivier[UCL] (2023) EMBO molecular medicine — Vol. 15, no. 12, p. e18242 [1-21] (2023)
    • Journal article
    Uromodulin: from physiology to rare and complex kidney disorders
    Devuyst, Olivier[UCL] Olinger, Eric Rampoldi, Luca (2017) Nature Reviews Nephrology — Vol. 13, no.9, p. 525-544 (2017)
    • Journal article
    The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin
    Brunati, Martina Perucca, Simone Han, Ling Cattaneo, Angela Consolato, Francesco Andolfo, Annapaola Schaeffer, Céline Olinger, Eric Peng, Jianhao Santambrogio, Sara Perrier, Romain Li, Shuo Bokhove, Marcel Bachi, Angela Hummler, Edith Devuyst, Olivier[UCL] Wu, Qingyu Jovine, Luca Rampoldi, Luca (2015) eLife — Vol. 4 (2015)
    • Journal article
    Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report
    Eckardt, Kai-Uwe Alper, Seth L Antignac, Corinne Bleyer, Anthony J Chauveau, Dominique Dahan, Karin Deltas, Constantinos Hosking, Andrew Kmoch, Stanislav Rampoldi, Luca Wiesener, Michael Wolf, Matthias T Devuyst, Olivier[UCL] Kidney Disease: Improving Global Outcomes (2015) Kidney International — Vol. 88, no. 4, p. 676-683 (2015)
    • Journal article
    Autosomal dominant tubulointerstitial kidney disease
    Devuyst, Olivier[UCL] Olinger, Eric[UCL] Weber, Stefanie Eckardt, Kai-Uwe Kmoch, Stanislav Rampoldi, Luca Bleyer, Anthony J. (2019) Nature reviews. Disease primers — Vol. 5, no. 1, p. 60 (2019)
    • Journal article
    Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
    Kidd, Kendrah Vylet’al, Petr Schaeffer, Céline Olinger, Eric[UCL] Živná, Martina Hodaňová, Kateřina Robins, Victoria Johnson, Emily Taylor, Abbigail Martin, Lauren Izzi, Claudia Jorge, Sofia C. Calado, Joaquim Torres, Rosa J. Lhotta, Karl Steubl, Dominik Gale, Daniel P. Gast, Christine Gombos, Eva Ainsworth, Hannah C. Chen, Ying Maggie Almeida, Jorge Reis de Souza, Cintia Fernandes Silveira, Catarina Raposeiro, Rita Weller, Nelson Conlon, Peter J. Murray, Susan L. Benson, Katherine A. Cavalleri, Gianpiero L. Votruba, Miroslav Vrbacká, Alena Amoroso, Antonio Gianchino, Daniela Caridi, Gianluca Ghiggeri, Gian Marco Divers, Jasmin Scolari, Francesco Devuyst, Olivier[UCL] Rampoldi, Luca Kmoch, Stanislav Bleyer, Anthony J. (2020) Kidney International Reports — Vol. 5, no. 9, p. 1472-1485 (2020)