Search Results - Matias Simons
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Functional study of mammalian Neph proteins in Drosophila melanogaster. by Martin Helmstädter, Kevin Lüthy, Markus Gödel, Matias Simons, Ashish, Deepak Nihalani, Stefan A Rensing, Karl-Friedrich Fischbach, Tobias B Huber
Published in PLoS ONE (2012-01-01)Get full text
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Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A by Valentina Marchesin, Albert Pérez-Martí, Gwenn Le Meur, Roman Pichler, Kelli Grand, Enriko D. Klootwijk, Anne Kesselheim, Robert Kleta, Soeren Lienkamp, Matias Simons
Published in Cell Reports (2019-12-01)Get full text
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Reducing lipid bilayer stress by monounsaturated fatty acids protects renal proximal tubules in diabetes by Albert Pérez-Martí, Suresh Ramakrishnan, Jiayi Li, Aurelien Dugourd, Martijn R Molenaar, Luigi R De La Motte, Kelli Grand, Anis Mansouri, Mélanie Parisot, Soeren S Lienkamp, Julio Saez-Rodriguez, Matias Simons
Published in eLife (2022-05-01)Get full text
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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies. by Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons
Published in PLoS Genetics (2018-05-01)Get full text
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Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europe... by Nicoline Uglebjerg, Fariba Ahmadizar, Fariba Ahmadizar, Dina M. Aly, Marisa Cañadas-Garre, Marisa Cañadas-Garre, Marisa Cañadas-Garre, Claire Hill, Annemieke Naber, Asmundur Oddsson, Sunny S. Singh, Laura Smyth, David-Alexandre Trégouët, Layal Chaker, Layal Chaker, Mohsen Ghanbari, Valgerdur Steinthorsdottir, Emma Ahlqvist, Samy Hadjadj, Mandy Van Hoek, Maryam Kavousi, Amy Jayne McKnight, Eric J. Sijbrands, Kari Stefansson, Kari Stefansson, Matias Simons, Peter Rossing, Peter Rossing, Tarunveer S. Ahluwalia, Tarunveer S. Ahluwalia
Published in Frontiers in Endocrinology (2023-02-01)Get full text
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