GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.

doi:10.1681/ASN.2017121312

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Article

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.

Journal of the American Society of Nephrology : JASN - 1 Aug 2018

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, Hildebrandt Friedhelm

Abstract excerpt

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...

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Identifiers

PMID: 29959197
DOI: 10.1681/ASN.2017121312
PMCID: PMC6065084

Genes

GAPVD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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