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

BACKGROUND: Proteinuria 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-Gräsbeck syndrome (IGS), which is characterized by intestinal malabsorp...

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Veröffentlicht in:J Clin Invest
Hauptverfasser: Bedin, Mathilda, Boyer, Olivia, Servais, Aude, Li, Yong, Villoing-Gaudé, Laure, Tête, Marie-Josephe, Cambier, Alexandra, Hogan, Julien, Baudouin, Veronique, Krid, Saoussen, Bensman, Albert, Lammens, Florie, Louillet, Ferielle, Ranchin, Bruno, Vigneau, Cecile, Bouteau, Iseline, Isnard-Bagnis, Corinne, Mache, Christoph J., Schäfer, Tobias, Pape, Lars, Gödel, Markus, Huber, Tobias B., Benz, Marcus, Klaus, Günter, Hansen, Matthias, Latta, Kay, Gribouval, Olivier, Morinière, Vincent, Tournant, Carole, Grohmann, Maik, Kuhn, Elisa, Wagner, Timo, Bole-Feysot, Christine, Jabot-Hanin, Fabienne, Nitschké, Patrick, Ahluwalia, Tarunveer S., Köttgen, Anna, Andersen, Christian Brix Folsted, Bergmann, Carsten, Antignac, Corinne, Simons, Matias
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2019
Schlagworte:
Clinical Medicine
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6934218/
https://ncbi.nlm.nih.gov/pubmed/31613795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI129937
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