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BMC Nephrology
Published in: BMC Nephrology 1/2015

Open Access 01-12-2015 | Review

Focal segmental glomerulosclerosis: molecular genetics and targeted therapies

Authors: Ying Maggie Chen, Helen Liapis

Published in: BMC Nephrology | Issue 1/2015

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Abstract

Recent advances show that human focal segmental glomerulosclerosis (FSGS) is a primary podocytopathy caused by podocyte-specific gene mutations including NPHS1, NPHS2, WT-1, LAMB2, CD2AP, TRPC6, ACTN4 and INF2. This review focuses on genes discovered in the investigation of complex FSGS pathomechanisms that may have implications for the current FSGS classification scheme. It also recounts recent recommendations for clinical management of FSGS based on translational studies and clinical trials. The advent of next-generation sequencing promises to provide nephrologists with rapid and novel approaches for the diagnosis and treatment of FSGS. A stratified and targeted approach based on the underlying molecular defects is evolving.
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Metadata
Title
Focal segmental glomerulosclerosis: molecular genetics and targeted therapies
Authors
Ying Maggie Chen
Helen Liapis
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Nephrology / Issue 1/2015
Electronic ISSN: 1471-2369
DOI
https://doi.org/10.1186/s12882-015-0090-9

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