Title
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation iotic Syndrome.n Nephr
Document Type
Article
Publication Date
8-1-2018
Publication Title
Journal of the American Society of Nephrology : JASN
Keywords
endocytosis; genetic renal disease; nephrin; nephrocyte; nephrotic syndrome; podocyte
Abstract
BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of CKD. The discovery of monogenic causes of SRNS has revealed specific pathogenetic pathways, but these monogenic causes do not explain all cases of SRNS.
METHODS: To identify novel monogenic causes of SRNS, we screened 665 patients by whole-exome sequencing. We then evaluated the
RESULTS: We identified conserved, homozygous missense mutations of
CONCLUSIONS: Mutations in
Clinical Institute
Kidney & Diabetes
Department
Nephrology
Recommended Citation
Hermle, Tobias; Schneider, Ronen; Schapiro, David; Braun, Daniela A; van der Ven, Amelie T; Warejko, Jillian K; Daga, Ankana; Widmeier, Eugen; Nakayama, Makiko; Jobst-Schwan, Tilman; Majmundar, Amar J; Ashraf, Shazia; Rao, Jia; Finn, Laura S; Tasic, Velibor; Hernandez, Joel D; Bagga, Arvind; Jalalah, Sawsan M; El Desoky, Sherif; Kari, Jameela A; Laricchia, Kristen M; Lek, Monkol; Rehm, Heidi L; MacArthur, Daniel G; Mane, Shrikant; Lifton, Richard P; Shril, Shirlee; and Hildebrandt, Friedhelm, "GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation iotic Syndrome.n Nephr" (2018). Articles, Abstracts, and Reports. 556.
https://digitalcommons.providence.org/publications/556
