Litcius/Paper detail

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes

Martina Živná, Kendrah Kidd, Mohamad Zaidan, Petr Vyleťal, Veronika Barešová, Kateřina Hodaňová, Jana Sovová, Hana Hartmannová, Miroslav Votruba, Helena Trešlová, Ivana Jedličková, Jakub Sikora, Helena Hůlková, Victoria Robins, Aleš Hnı́zda, J Živný, Gregory Papagregoriou, Laurent Mesnard, Bodo B. Beck, Andrea Wenzel, Kálmán Tory, Karsten Häeffner, Matthias T. F. Wolf, Michael E. Bleyer, John A. Sayer, Albert Ong, Lídia Balogh, Anna Jakubowska, Agnieszka Łaszkiewicz, Rhian Clissold, Charles Shaw‐Smith, Raj Munshi, Robert Haws, Claudia Izzi, Irene Capelli, Marisa Santostefano, Claudio Graziano, Francesco Scolari, Amy N. Sussman, Howard Trachtman, Stéphane Decramer, Marie Matignon, Philippe Grimbert, Lawrence R. Shoemaker, Christoforos Stavrou, Mayssa Abdelwahed, Neila Belghith, Matthew R. Sinclair, Kathleen Claes, Tal Kopel, Sharon M. Moe, Constantinos Deltas, Bertrand Knebelmann, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer

2020Kidney International43 citationsDOIOpen Access PDF

Topics & Concepts

Endoplasmic reticulumSignal peptideMedicineInternal medicineCohortBiologyEndocrinologyGeneGeneticsPeptide sequenceRenal Diseases and GlomerulopathiesKidney Stones and Urolithiasis TreatmentsIon Transport and Channel Regulation