Zobrazeno 1 - 10
of 1 696
pro vyhledávání: '"Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]"'
Autor:
Brigitte H. W. Faas, Dineke Westra, Sonja A. de Munnik, Maartje van Rij, Carlo Marcelis, Sara Joosten, Ingrid Krapels, Vivian Vernimmen, Malou Heijligers, Marjolein H. Willemsen, Nicole de Leeuw, Tuula Rinne, Rolph Pfundt, Sanne P. Smeekens, Sander P. A. Stegmann, Merryn Macville, Esther Sikkel, Audrey Coumans, Lia Wijnberger, Irma Derks, Josefa van Lent‐Albrechts, Tom Hofste, Raoul Timmermans, Janneke van den End, Servi J. C. Stevens, Ilse Feenstra
Publikováno v:
Prenatal Diagnosis, 43, 4, pp. 527-543
Item does not contain fulltext OBJECTIVE: We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exo
Autor:
Zoe McArdle, Reetu R. Singh, Helle Bielefeldt-Ohmann, Karen M. Moritz, Kate M. Denton, Michiel F. Schreuder
Publikováno v:
Clinical Science, 137, 603-615
Clinical Science, 137, 8, pp. 603-615
Clinical Science, 137, 8, pp. 603-615
A child with a congenital solitary functioning kidney (SFK) may develop kidney disease from early in life due to hyperfiltration injury. Previously, we showed in a sheep model of SFK that brief angiotensin-converting enzyme inhibition (ACEi) early in
Autor:
Maria Elena Steidl, Elisa A. Nigro, Anne Kallehauge Nielsen, Roberto Pagliarini, Laura Cassina, Matteo Lampis, Christine Podrini, Marco Chiaravalli, Valeria Mannella, Gianfranco Distefano, Ming Yang, Mariam Aslanyan, Giovanna Musco, Ronald Roepman, Christian Frezza, Alessandra Boletta
Publikováno v:
Nature Metabolism, 5, 385-397
Nature Metabolism, 5, 3, pp. 385-397
Nature Metabolism, 5 (3)
Nature Metabolism, 5, 3, pp. 385-397
Nature Metabolism, 5 (3)
Acknowledgements: The authors are grateful to the other members of the Boletta laboratory for useful discussions and to L. Tronci for helpful suggestions on data analysis. This work was supported by the Italian Ministry of Health (RF-2018-12368254; R
Autor:
Jeroen H. F. de Baaij
Publikováno v:
American Journal of Physiology : Renal Physiology, 324, 3, pp. F227-F244
American Journal of Physiology : Renal Physiology, 324, F227-F244
American Journal of Physiology : Renal Physiology, 324, F227-F244
Mg2+ is essential for many cellular and physiological processes, including muscle contraction, neuronal activity, and metabolism. Consequently, the blood Mg2+ concentration is tightly regulated by balanced intestinal Mg2+ absorption, renal Mg2+ excre
Autor:
Priya Vart, Raphaël Duivenvoorden, Casper F M Franssen, Marc H Hemmelder, Kitty J Jager, Luuk B Hilbrands, Marlies Noordzij, Daniel Abramowicz, Carlo Basile, Adrian Covic, Marta Crespo, Ziad A Massy, Alberto Ortiz, J Emilio Sanchez, Emily Petridou, Colin White, Ron T Gansevoort
Publikováno v:
Nephrology, dialysis, transplantation
Nephrology, Dialysis, Transplantation, 38, 3, pp. 575-582
Nephrology Dialysis Transplantation, 38(3), 575-582. Oxford University Press
Nephrology, Dialysis, Transplantation, 38, 575-582
Nephrology, Dialysis, Transplantation, 38, 3, pp. 575-582
Nephrology Dialysis Transplantation, 38(3), 575-582. Oxford University Press
Nephrology, Dialysis, Transplantation, 38, 575-582
Contains fulltext : 290814.pdf (Publisher’s version ) (Open Access) Owing to the vulnerability of patients with chronic kidney disease to infectious diseases, the coronavirus disease 2019 (COVID-19) pandemic has been particularly devastating for th
Autor:
Marcia M L Kho, A Lianne Messchendorp, Sophie C Frölke, Celine Imhof, Vera JCH Koomen, S Reshwan K Malahe, Priya Vart, Daryl Geers, Rory D de Vries, Corine H GeurtsvanKessel, Carla C Baan, Renate G van der Molen, Dimitri A Diavatopoulos, Ester B M Remmerswaal, Debbie van Baarle, Rob van Binnendijk, Gerco den Hartog, Aiko P J de Vries, Ron T Gansevoort, Frederike J Bemelman, Marlies E J Reinders, Jan-Stephan F Sanders, Luuk B Hilbrands, Alferso C. Abrahams, Marije C. Baas, Pim Bouwmans, Marc A.G.J. ten Dam, Lennert Gommers, Dorien Standaar, Marieke van der Heiden, Yvonne M.R. Adema, Marieken J. Boer-Verschragen, Wouter B. Mattheussens, Ria H.L.A. Philipsen, Djenolan van Mourik, Susanne Bogers, Laura L.A. van Dijk, Nynke Rots, Gaby Smits, Marjan Kuijer, Marc H. Hemmelder
Publikováno v:
Lancet Infectious Diseases, 23, 307-319
Lancet infectious diseases, 23(3), 307-319. Lancet Publishing Group
Lancet Infectious Diseases, 23(3), 307-319. ELSEVIER SCI LTD
The Lancet Infectious Diseases, 23(3), 307-319. Lancet Publishing Group
Lancet Infectious Diseases, 23, 3, pp. 307-319
Lancet infectious diseases, 23(3), 307-319. Lancet Publishing Group
Lancet Infectious Diseases, 23(3), 307-319. ELSEVIER SCI LTD
The Lancet Infectious Diseases, 23(3), 307-319. Lancet Publishing Group
Lancet Infectious Diseases, 23, 3, pp. 307-319
BACKGROUND: An urgent need exists to improve the suboptimal COVID-19 vaccine response in kidney transplant recipients (KTRs). We aimed to compare three alternative strategies with a control single dose mRNA-1273 vaccination: a double vaccine dose, he
Autor:
Aapkes, S.E., Barten, T.R.M., Coudyzer, W., Drenth, J.P.H., Geijselaers, I.M.A., Grote, S.A.M. Ter, Gansevoort, R.T., Nevens, F., Gastel, M.D. van
Publikováno v:
European Radiology, 33, 5, pp. 3222-3231
European Radiology, 33, 3222-3231
European Radiology, 33, 3222-3231
Objectives Polycystic liver disease (PLD) is characterized by growth of hepatic cysts, causing hepatomegaly. Disease severity is determined using total liver volume (TLV), which can be measured from computed tomography (CT). The gold standard is manu
Autor:
Lotte E. Tholen, Femke Latta, Joost H. A. Martens, Joost G. J. Hoenderop, Jeroen H. F. de Baaij
Publikováno v:
American Journal of Physiology : Renal Physiology, 324, F211-F224
American Journal of Physiology : Renal Physiology, 324, 2, pp. F211-F224
American Journal of Physiology : Renal Physiology, 324, 2, pp. F211-F224
Genetic defects in transcription factor hepatocyte nuclear factor (HNF)1β cause a heterogeneous disease characterized by electrolyte disturbances, kidney cysts, and diabetes. By combining RNA-sequencing and HNF1β chromatin immunoprecipitation-seque
Autor:
Ijzermans, Ties, Meijden, W.A.G. van der, Hoeks, M.P.A., Huigen, M., Rennings, A.J., Nijenhuis, T.
Publikováno v:
American Journal of Kidney Diseases, 81, 4, pp. 493-496
American Journal of Kidney Diseases, 81, 493-496
American Journal of Kidney Diseases, 81, 493-496
Contains fulltext : 291548.pdf (Publisher’s version ) (Open Access) Lysinuric protein intolerance (LPI) is a rare metabolic disorder with reduced renal and intestinal reabsorption of ornithine, lysine, and arginine. It is due to variants in SLC7A7,
Autor:
Dominic Lenz, Marianne Hørby Jørgensen, Deirdre Kelly, Vincenzo Cardinale, Anja Geerts, Isabel Gonçalves Costa, Alexander Fichtner, Sven F. Garbade, Bianca Hegen, Johannes Hilberath, Ruben de Kleine, Limas Kupčinskas, Valérie McLin, Moritz Niesert, Veronica Prado Gonzalez, Ekkehard Sturm, Christian Staufner, Eric Tjwa, José Willemse, Britta F. Zecher, Fin Stolze Larsen, Marcial Sebode, Henriette Ytting
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition, 77, 115-120
Journal of Pediatric Gastroenterology and Nutrition, 77, 1, pp. 115-120
Journal of Pediatric Gastroenterology and Nutrition, 77, 1, pp. 115-120
Item does not contain fulltext Acute liver failure (ALF) is rare but life-threatening. Common causes include intoxications, infections, and metabolic disorders. Indeterminate etiology is still frequent. No systematic data on incidence, causes, and ou