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Article

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.

Journal of medical genetics - 1 Jul 2010

Boyer Olivia, Benoit Geneviève, Gribouval Olivier, Nevo Fabien, Pawtowski Audrey, Bilge Ilmay, Bircan Zelal, Deschênes Georges, Guay-Woodford Lisa M, Hall Michelle, Macher Marie-Alice, Soulami Kenza, Stefanidis Constantinos J, Weiss Robert, Loirat Chantal, Gubler Marie-Claire, Antignac Corinne

Abstract excerpt

BACKGROUND: Mutations in the PLCE1 gene encoding phospholipase C epsilon 1 (PLCepsilon1) have been recently described in patients with early onset nephrotic syndrome (NS) and diffuse mesangial sclerosis (DMS). In addition, two cases of PLCE1 mutations associated with focal segmental glomerulosclerosis (FSGS) and later NS onset have been reported. METHOD: In order to better assess the spectrum of phenotypes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glomerulosclerosis, Focal Segmental

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Source

Identifiers

PMID: 20591883
DOI: 10.1136/jmg.2009.076166

Genes

PLCE1
NPHS2
BRAF
IQGAP1
NPHS1

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.

Related research

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Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.PMID 20591883Read ↗

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).Semantic proximity Read ↗

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Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.Semantic proximity Read ↗

Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.Semantic proximity Read ↗

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.Semantic proximity Read ↗

[Clinical and genetic analysis of a child with Focal segmental glomerulosclerosis due to a novel variant of PLCE1 gene].Semantic proximity Read ↗

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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