Pendrin: linking acid base to blood pressure.

Autor: Brazier F; Centre de dépistage et de Médecine de précision des Maladies Rénales, Service de Néphrologie, Centre Hospitalier Universitaire Amiens-Picardie, Université de Picardie Jules Verne, F-80000, Amiens, France., Cornière N; Centre de dépistage et de Médecine de précision des Maladies Rénales, Service de Néphrologie, Centre Hospitalier Universitaire Amiens-Picardie, Université de Picardie Jules Verne, F-80000, Amiens, France., Picard N; Laboratory of Tissue Biology and Therapeutic Engineering, UMR 5305 CNRS, University Lyon 1, Lyon, France., Chambrey R; Paris Cardiovascular Research Center (PARCC), INSERM U970, F-75015, Paris, France., Eladari D; Centre de dépistage et de Médecine de précision des Maladies Rénales, Service de Néphrologie, Centre Hospitalier Universitaire Amiens-Picardie, Université de Picardie Jules Verne, F-80000, Amiens, France. dominique.eladari@inserm.fr.; Laboratory of Tissue Biology and Therapeutic Engineering, UMR 5305 CNRS, University Lyon 1, Lyon, France. dominique.eladari@inserm.fr.; French Clinical Research Infrastructure Network (F-CRIN): INI-CRCT, Vandœuvre-lès-Nancy, France. dominique.eladari@inserm.fr.

Publikováno v: Pflugers Archiv : European journal of physiology [Pflugers Arch] 2024 Apr; Vol. 476 (4), pp. 533-543. Date of Electronic Publication: 2023 Dec 19.

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The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI.

Autor: Trepiccione F; Department of Medical Translational Sciences, University of Campania 'Luigi Vanvitelli,' 80131 Naples, Italy.; Biogem, Institute of Molecular Biology and Genetics, 83031 Ariano Irpino, Italy., Iervolino A; Department of Medical Translational Sciences, University of Campania 'Luigi Vanvitelli,' 80131 Naples, Italy.; Biogem, Institute of Molecular Biology and Genetics, 83031 Ariano Irpino, Italy., D'Acierno M; Biogem, Institute of Molecular Biology and Genetics, 83031 Ariano Irpino, Italy., Siccardi S; Biogem, Institute of Molecular Biology and Genetics, 83031 Ariano Irpino, Italy., Costanzo V; Biogem, Institute of Molecular Biology and Genetics, 83031 Ariano Irpino, Italy., Sardella D; Biogem, Institute of Molecular Biology and Genetics, 83031 Ariano Irpino, Italy., De La Motte LR; Biogem, Institute of Molecular Biology and Genetics, 83031 Ariano Irpino, Italy., D'Apolito L; Biogem, Institute of Molecular Biology and Genetics, 83031 Ariano Irpino, Italy., Miele A; Biogem, Institute of Molecular Biology and Genetics, 83031 Ariano Irpino, Italy., Perna AF; Department of Medical Translational Sciences, University of Campania 'Luigi Vanvitelli,' 80131 Naples, Italy., Capolongo G; Department of Medical Translational Sciences, University of Campania 'Luigi Vanvitelli,' 80131 Naples, Italy., Zacchia M; Department of Medical Translational Sciences, University of Campania 'Luigi Vanvitelli,' 80131 Naples, Italy., Frische S; Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark., Nielsen R; Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark., Staiano L; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.; Institute for Genetic and Biomedical Research, National Research Council (CNR), 20089 Milan, Italy., Sambri I; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.; Department of Medical and Translational Science, Federico II University, 80131 Naples, Italy., De Cegli R; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy., Unwin R; UCL Department of Renal Medicine, Royal Free Hospital, London NW3 2PF, UK., Eladari D; Service de Médecine de Précision des maladies Métaboliques et Rénales, CHU Amiens-Picardie, Université de Picardie Jules Verne, 80054 Amiens, France.; FCRIN-INI-CRCT, 54500 Vandœuvre-lès-Nancy, France.; Paris Cardiovascular Research Center (PARCC), INSERM U970, F-75015, Paris, France., Capasso G; Department of Medical Translational Sciences, University of Campania 'Luigi Vanvitelli,' 80131 Naples, Italy.; Biogem, Institute of Molecular Biology and Genetics, 83031 Ariano Irpino, Italy.

Publikováno v: Science translational medicine [Sci Transl Med] 2023 Nov; Vol. 15 (720), pp. eabn4214. Date of Electronic Publication: 2023 Nov 01.

Novel insight on physiological regulation of the Cl ^- /[Formula: see text] exchanger pendrin.

Autor: Chambrey R; Unité Mixte de Recherche INSERM 1283/CNRS 8199, European Genomic Institute for Diabetes, Lille, France., Eladari D; Service de Médecine de Précision des Maladies Métaboliques et Rénales, CHU Amiens-Picardie, Université de Picardie Jules Verne, Amiens, France.

Publikováno v: American journal of physiology. Renal physiology [Am J Physiol Renal Physiol] 2023 May 01; Vol. 324 (5), pp. F431-F432. Date of Electronic Publication: 2023 Mar 09.

Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis.

Autor: Cornière N; Department of Precision Médicine for Metabolic and Renal Diseases, CHU Amiens Picardie, Université de Picardie Jules Verne, Amiens, France.; UMR1283, INSERM; CNRS; University of Lille, Lille, Hauts de France, France., Thomson RB; Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA., Thauvin S; Plateau de Recherche ODHIR, AURAR, Saint-Gilles-les-Bains, Réunion., Villoutreix BO; UMR 1141, INSERM, Paris, Île-de-France, France., Karp S; Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA., Dynia DW; Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA., Burlein S; Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA., Brinkmann L; Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA., Badreddine A; UMR1283, INSERM; CNRS; University of Lille, Lille, Hauts de France, France., Dechaume A; UMR1283, INSERM; CNRS; University of Lille, Lille, Hauts de France, France., Derhourhi M; UMR1283, INSERM; CNRS; University of Lille, Lille, Hauts de France, France., Durand E; UMR1283, INSERM; CNRS; University of Lille, Lille, Hauts de France, France., Vaillant E; UMR1283, INSERM; CNRS; University of Lille, Lille, Hauts de France, France., Froguel P; UMR1283, INSERM; CNRS; University of Lille, Lille, Hauts de France, France., Chambrey R; UMR1283, INSERM; CNRS; University of Lille, Lille, Hauts de France, France.; Plateau de Recherche ODHIR, AURAR, Saint-Gilles-les-Bains, Réunion., Aronson PS; Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA., Bonnefond A; UMR1283, INSERM; CNRS; University of Lille, Lille, Hauts de France, France., Eladari D; Department of Precision Médicine for Metabolic and Renal Diseases, CHU Amiens Picardie, Université de Picardie Jules Verne, Amiens, France dominique.eladari@inserm.fr.; UMR1283, INSERM; CNRS; University of Lille, Lille, Hauts de France, France.

Publikováno v: Journal of medical genetics [J Med Genet] 2022 Nov; Vol. 59 (11), pp. 1035-1043. Date of Electronic Publication: 2022 Feb 03.