Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Autor: Marie-Josèphe Tête, Matthias Hansen, Florie Lammens, Tobias Schäfer, Albert Bensman, Alexandra Cambier, Tobias B. Huber, Christoph J. Mache, Elisa Kuhn, Christian Brix Folsted Andersen, Corinne Isnard-Bagnis, Tarunveer S. Ahluwalia, Günter Klaus, Mathilda Bedin, Fabienne Jabot-Hanin, Julien Hogan, Laure Villoing-Gaudé, Timo Wagner, Patrick Nitschke, Carole Tournant, Marcus R. Benz, Maik Grohmann, Markus Gödel, Aude Servais, Corinne Antignac, Cécile Vigneau, Ferielle Louillet, Christine Bole-Feysot, Véronique Baudouin, Iseline Bouteau, Lars Pape, Kay Latta, Carsten Bergmann, Yong Li, Vincent Morinière, Saoussen Krid, Olivier Gribouval, Olivia Boyer, Bruno Ranchin, Anna Köttgen, Matias Simons

Publikováno v: Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2020, 130 (1), pp.335-344. ⟨10.1172/JCI129937⟩
Bedin, M, Boyer, O, Servais, A, Li, Y, Villoing-Gaudé, L, Tête, M J, Cambier, A, Hogan, J, Baudouin, V, Krid, S, Bensman, A, Lammens, F, Louillet, F, Ranchin, B, Vigneau, C, Bouteau, I, Isnard-Bagnis, C, MacHe, C J, Schäfer, T, Pape, L, Gödel, M, Huber, T B, Benz, M, Klaus, G, Hansen, M, Latta, K, Gribouval, O, Morinière, V, Tournant, C, Grohmann, M, Kuhn, E, Wagner, T, Bole-Feysot, C, Jabot-Hanin, F, Nitschké, P, Ahluwalia, T S, Köttgen, A, Andersen, C B F, Bergmann, C, Antignac, C & Simons, M 2020, ' Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function ', Journal of Clinical Investigation, vol. 130, no. 1, pp. 335-344 . https://doi.org/10.1172/JCI129937
Journal of Clinical Investigation, 2020, 130 (1), pp.335-344. ⟨10.1172/JCI129937⟩

International audience; BACKGROUNDProteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a5e56a3b0812f91e03721198759a655
https://hal-univ-rennes1.archives-ouvertes.fr/hal-02445305