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Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
Autor: Luciani A., Schumann A., Berquez M., Chen Z., Nieri D., Failli M., Debaix H., Festa B. P., Tokonami N., Raimondi A., Cremonesi A., Carrella D., Forny P., Kolker S., Diomedi Camassei F., Diaz F., Moraes C. T., Di Bernardo D., Baumgartner M. R., Devuyst O.
Deregulation of mitochondrial network in terminally differentiated cells contributes to a broad spectrum of disorders. Methylmalonic acidemia (MMA) is one of the most common inherited metabolic disorders, due to deficiency of the mitochondrial methyl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::0f0c239dc8111d4d081b82690efd43c3
http://hdl.handle.net/11588/832543
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Akademický článek
AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal Dialysis.
Autor: Morelle J; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Marechal C; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Yu Z; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Debaix H; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Corre T; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Lambie M; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Verduijn M; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Dekker F; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Bovy P; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Evenepoel P; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Bammens B; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Selgas R; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Bajo MA; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Coester AM; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Sow A; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Hautem N; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Struijk DG; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Krediet RT; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Balligand JL; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Goffin E; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Crott R; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Ripoche P; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Davies S; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.)., Devuyst O; From the Division of Nephrology, Cliniques Universitaires Saint-Luc (J.M., E.G., O.D.), and Institut de Recherche Expérimentale et Clinique (J.M., C.M., H.D., A.S., N.H., J.-L.B., E.G., O.D.) and Institut de Recherche Santé et Société, Faculty of Public Health (R.C.), UCLouvain, Brussels, the Division of Nephrology, Clinique Saint-Joseph, Liege (P.B.), and the Department of Microbiology, Immunology, and Transplantation, Nephrology and Renal Transplantation Research Group, KU Leuven (P.E., B.B.), and the Department of Nephrology, Dialysis, and Renal Transplantation, University Hospitals Leuven (P.E., B.B.), Leuven - all in Belgium; the Department of Nephrology, Shanghai Jiao Tong University School of Medicine and Renji Hospital, Shanghai, China (Z.Y.); the Faculty of Medicine and Health Sciences, Keele University, Keele, United Kingdom (Z.Y., M.L., S.D.); the Institute of Physiology, University of Zurich, Zurich (H.D., O.D.), and the Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne (T.C.) - both in Switzerland; the Department of Clinical Epidemiology, Leiden University Medical Center, Leiden (M.V., F.D.), the Division of Nephrology, Department of Medicine, Amsterdam University Medical Center, University of Amsterdam, Amsterdam (A.M.C., D.G.S., R.T.K.), and the Department of Surgery, University Medical Center Groningen, Groningen (A.M.C.) - all in the Netherlands; the Division of Nephrology, Hospital Universitario La Paz, and Instituto de Investigación Sanitaria La Paz, Red de Investigación Renal, Universidad Autonoma, Madrid (R.S., M.A.B.); and Institut National de la Transfusion Sanguine, Paris (P.R.).
Publikováno v: The New England journal of medicine [N Engl J Med] 2021 Oct 21; Vol. 385 (17), pp. 1570-1580.
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6
Akademický článek
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Autor: Schlingmann KP; Department of General Pediatrics, Pediatric Nephrology, University Children's Hospital, Munster, Germany., Renigunta A; Department of Pediatric Nephrology, Marburg Kidney Research Center, Philipps University, Marburg, Germany., Hoorn EJ; Division of Nephrology and Transplantation, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Forst AL; Department of Physiology, Medical Cell Biology, University of Regensburg, Regensburg, Germany., Renigunta V; Department of Neurophysiology, Institute of Physiology and Pathophysiology, Philipps University, Marburg, Germany., Atanasov V; Department of Neuroscience, Physiology and Pharmacology, University College London, London, United Kingdom., Mahendran S; Department of Neuroscience, Physiology and Pharmacology, University College London, London, United Kingdom., Barakat TS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Gillion V; Division of Nephrology, Saint-Luc Academic Hospital, Université Catholique Louvain, Brussels, Belgium., Godefroid N; Division of Pediatric Nephrology, Saint-Luc Academic Hospital, Université Catholique Louvain, Brussels, Belgium., Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Lugtenberg D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Lake J; Department of Physiology, Mechanism of Inherited Kidney Disorders, University of Zurich, Zurich, Switzerland., Debaix H; Department of Physiology, Mechanism of Inherited Kidney Disorders, University of Zurich, Zurich, Switzerland., Rudin C; Department of Pediatric Nephrology, University Children's Hospital, Basel, Switzerland., Knebelmann B; Department of Nephrology-Transplantation, Assistance Publique Hôpitaux de Paris, Hôpital Necker, Paris, France.; Reference Center for Hereditary Kidney and Childhood Diseases (MAladies Renales Hereditaires de l'Enfant et de l'Adulte), Paris, France., Tellier S; Department of Pediatric Nephrology, and Rheumatology, French Reference Center of Rare Renal Diseases (SORARE), CHU Toulouse, Toulouse, France.; Division of Rheumatology, Department of Pediatrics, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Rousset-Rouvière C; Department of Multidisciplinary Pediatrics, Pediatric Nephrology Unit, La Timone, University Hospital of Marseille, Marseille, France., Viering D; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Weber S; Department of Pediatric Nephrology, Marburg Kidney Research Center, Philipps University, Marburg, Germany., Palygin O; Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin., Staruschenko A; Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin.; Clement J. Zablocki Veterans Affairs Medical Center, Milwaukee, Wisconsin., Kleta R; Department of Renal Medicine, University College London, London, United Kingdom.; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom., Houillier P; Reference Center for Hereditary Kidney and Childhood Diseases (MAladies Renales Hereditaires de l'Enfant et de l'Adulte), Paris, France.; Department of Physiology, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Paris, France.; Department of Renal Physiology, Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, Sorbonne Université, Université de Paris, Centre National de la Recherche Scientifique, Paris, France., Bockenhauer D; Department of Renal Medicine, University College London, London, United Kingdom.; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom., Devuyst O; Division of Nephrology, Saint-Luc Academic Hospital, Université Catholique Louvain, Brussels, Belgium.; Department of Physiology, Mechanism of Inherited Kidney Disorders, University of Zurich, Zurich, Switzerland., Vargas-Poussou R; Reference Center for Hereditary Kidney and Childhood Diseases (MAladies Renales Hereditaires de l'Enfant et de l'Adulte), Paris, France.; Department of Renal Physiology, Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, Sorbonne Université, Université de Paris, Centre National de la Recherche Scientifique, Paris, France.; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Paris, France., Warth R; Department of Physiology, Medical Cell Biology, University of Regensburg, Regensburg, Germany., Zdebik AA; Department of Neuroscience, Physiology and Pharmacology, University College London, London, United Kingdom.; Department of Renal Medicine, University College London, London, United Kingdom., Konrad M; Department of General Pediatrics, Pediatric Nephrology, University Children's Hospital, Munster, Germany.
Publikováno v: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2021 Jun 01; Vol. 32 (6), pp. 1498-1512. Date of Electronic Publication: 2021 Apr 02.
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7
Akademický článek
Characterization of a novel variant in KCNJ16, encoding Kir5.1 channel.
Autor: Xu, Biyang1 (AUTHOR), Levchenko, Vladislav1 (AUTHOR), Bohovyk, Ruslan1 (AUTHOR), Ahrari, Ameneh1 (AUTHOR), Geurts, Aron M.2 (AUTHOR), Sency, Valerie3 (AUTHOR), Xin, Baozhong3 (AUTHOR), Wang, Heng3 (AUTHOR), Staruschenko, Alexander1,4,5 (AUTHOR) staruschenko@usf.edu
Publikováno v: Physiological Reports. Oct2024, Vol. 12 Issue 20, p1-8. 8p.
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8
Akademický článek
HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis.
Autor: Sánchez-Cazorla, Eloísa1,2 (AUTHOR) eloisasancaz@gmail.com, Carrera, Noa1,2,3 (AUTHOR) noa.carrera.cachaza@sergas.es, García-González, Miguel Ángel1,2,3 (AUTHOR) noa.carrera.cachaza@sergas.es
Publikováno v: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10609. 15p.
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9
Akademický článek
Important functions and molecular mechanisms of aquaporins family on respiratory diseases: potential translational values.
Autor: Jinshan Li1,2,3, Dongyong Yang1, Lanlan Lin1,2,3, Liying Yu4, Luyang Chen1,2,3, Kaiqiang Lu1,2,3, Jieli Lan5, Yiming Zeng1,2,3 zeng_yiming@fjmu.edu.cn, Yuan Xu1,2,3,6 yuan_xu0123@fjmu.edu.cn
Publikováno v: Journal of Cancer. 2024, Vol. 15 Issue 18, p6073-6085. 13p.
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10
Akademický článek
Untangling the Uncertain Role of Overactivation of the Renin–Angiotensin–Aldosterone System with the Aging Process Based on Sodium Wasting Human Models.
Autor: Thimm, Chantelle1 (AUTHOR), Adjaye, James1,2 (AUTHOR) james.adjaye@med.uni-duesseldorf.de
Publikováno v: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 17, p9332. 18p.
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