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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2019
Assuntos:
Clinical Medicine
Acesso em linha: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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