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Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
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.
Afiliação
  • Bedin M; Laboratory of Epithelial Biology and Disease and.
  • Boyer O; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France.
  • Servais A; Department of Pediatric Nephrology and.
  • Li Y; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France.
  • Villoing-Gaudé L; Department of Nephrology, Necker Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris, France.
  • Tête MJ; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
  • Cambier A; Laboratory of Epithelial Biology and Disease and.
  • Hogan J; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France.
  • Baudouin V; Department of Pediatric Nephrology and Transplantation, Robert-Debré Hospital, APHP, Paris, France.
  • Krid S; Department of Pediatric Nephrology and Transplantation, Robert-Debré Hospital, APHP, Paris, France.
  • Bensman A; Department of Pediatric Nephrology and Transplantation, Robert-Debré Hospital, APHP, Paris, France.
  • Lammens F; Department of Pediatric Nephrology and.
  • Louillet F; Department of Pediatric Nephrology and.
  • Ranchin B; Centre Hospitalier Régional Universitaire de Lille, Lille, France.
  • Vigneau C; Centre Hospitalier Universitaire de Rouen, Rouen, France.
  • Bouteau I; Department of Pediatric Nephrology, Hospices Civils de Lyon, Bron, France.
  • Isnard-Bagnis C; Centre Hospitalier Universitaire de Rennes, INSERM U1085 IRSET-9, Rennes, France.
  • Mache CJ; Centre Hospitalier Universitaire de Poitiers, Poitiers, France.
  • Schäfer T; Department of Nephrology, Pitié Salpetrière Hospital, Paris, France.
  • Pape L; Children's Hospital, Medical University Graz, Graz, Austria.
  • Gödel M; Renal Division, University Medical Center Freiburg, Freiburg, Germany.
  • Huber TB; Department of Pediatric Kidney, Liver and Metabolic Disease, Hannover Medical School, Hannover, Germany.
  • Benz M; Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Klaus G; Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Hansen M; Kindernephrologie Dachau, Dachau, Germany.
  • Latta K; Department of Child and Adolescent Medicine, University Medical Center Marburg-Giessen, Marburg, Germany.
  • Gribouval O; KfH-Nierenzentrum für Kinder und Jugendliche und Clementine-Kinderhospital, Frankfurt, Germany.
  • Morinière V; KfH-Nierenzentrum für Kinder und Jugendliche und Clementine-Kinderhospital, Frankfurt, Germany.
  • Tournant C; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France.
  • Grohmann M; Department of Genetics, Necker Hospital, APHP, Paris, France.
  • Kuhn E; Department of Genetics, Necker Hospital, APHP, Paris, France.
  • Wagner T; Center for Human Genetics, Bioscientia, Ingelheim, Germany.
  • Bole-Feysot C; Center for Human Genetics, Mainz, Germany.
  • Jabot-Hanin F; Center for Human Genetics, Bioscientia, Ingelheim, Germany.
  • Nitschké P; Center for Human Genetics, Bioscientia, Ingelheim, Germany.
  • Ahluwalia TS; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Köttgen A; Bioinformatics Core Facility, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Université de Paris, Paris, France.
  • Andersen CBF; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Bergmann C; Bioinformatics Core Facility, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Université de Paris, Paris, France.
  • Antignac C; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Simons M; Bioinformatics Core Facility, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Université de Paris, Paris, France.
J Clin Invest ; 130(1): 335-344, 2020 01 02.
Article em En | MEDLINE | ID: mdl-31613795
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteinúria / Deficiência de Vitamina B 12 / Receptores de Superfície Celular / Albuminúria / Anemia Megaloblástica / Túbulos Renais Proximais / Síndromes de Malabsorção / Mutação Tipo de estudo: Clinical_trials / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: J Clin Invest Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteinúria / Deficiência de Vitamina B 12 / Receptores de Superfície Celular / Albuminúria / Anemia Megaloblástica / Túbulos Renais Proximais / Síndromes de Malabsorção / Mutação Tipo de estudo: Clinical_trials / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: J Clin Invest Ano de publicação: 2020 Tipo de documento: Article