GAPVD1 and ANKFY1 mutations implicate RAB5 regulation in nephrotic syndrome
T Hermle, R Schneider, D Schapiro… - Journal of the …, 2018 - journals.lww.com
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 in vitro functional significance of two genes and the mutations therein that
we discovered through this sequencing and conducted complementary studies in podocyte …
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 in vitro functional significance of two genes and the mutations therein that
we discovered through this sequencing and conducted complementary studies in podocyte …