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Article

Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Oct 2008

Löwik Marije, Levtchenko Elena, Westra Dineke, Groenen Patricia, Steenbergen Eric, Weening Jan, Lilien Marc, Monnens Leo, van den Heuvel Lambert

Abstract excerpt

BACKGROUND: Focal segmental glomerulosclerosis (FSGS) is a major cause of steroid-resistant nephrotic syndrome in childhood with a central role for the podocytes in the pathogenesis. Mutated proteins expressed in podocytes cause proteinuria. The role of combined gene defects in the development of FSGS is less clear. METHODS: We analysed seven podocyte genes known to cause proteinuria and FSGS in a group of 19...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Wilms Tumor

Share to Glomerulosclerosis, Focal Segmental

Share to Intracellular Signaling Peptides and Proteins

Share to Phosphoinositide Phospholipase C

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Source

Identifiers

PMID: 18443213
DOI: 10.1093/ndt/gfn208

Genes

NPHS1
NPHS2
ACTN4
PLCE1
TRPC6

Variants

Provenance

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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