Title

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation iotic Syndrome.n Nephr

Document Type

Article

Publication Date

8-1-2018

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

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