Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
Year: 2016
Type: article
Study design: Observational Study
Source: Nature Genetics
DOI: 10.1038/ng.3512
Authors: Daniela A Braun, Carolin E Sadowski, Stefan Kohl, Svjetlana Lovric, Susanne A Astrinidis, Werner L Pabst, Heon Yung Gee, Shazia Ashraf, Jennifer A Lawson, Shirlee Shril, Merlin Airik, Weizhen Tan, David Schapiro, Jia Rao, Won-Il Choi, Tobias Hermle, Markus J Kemper, Martin Pohl, Fatih Ozaltin, Martin Konrad, Radovan Bogdanovic, Rainer Büscher, Udo Helmchen, Erkin Serdaroglu, Richard P Lifton, Wolfram Antonin, Friedhelm Hildebrandt
Institutions: Boston Children's Hospital, Harvard University, Max Planck Society, Friedrich Miescher Laboratory, Yonsei University, Yonsei University Health System, University Medical Center Hamburg-Eppendorf, University of Freiburg, University Medical Center Freiburg, Hacettepe University, University Hospital Münster, University of Belgrade, University of Duisburg-Essen, Dr. Behçet Uz Çocuk Hastalıkları Hastanesi, Howard Hughes Medical Institute, Yale University
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Awards: Research Training in Pediatric Nephrology, Yale Center for Mendelian Genomics, G3311692933, George M. O'Brien Kidney Center at Yale, Discover and functionally characterize full-penetrance causes of nephrosis / FSGS, Novel genetics, pathobiology and therapy of nephronophthisis-related ciliopathies
OpenAlex ID: W2278141069