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Article

Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome.

Gene expression - 1 Jan 2006

Oleggini Roberta, Bertelli Roberta, Di Donato Armando, Di Duca Marco, Caridi Gianluca, Sanna-Cherchi Simone, Scolari Francesco, Murer Luisa, Allegri Landino, Coppo Rosanna, Emma Francesco, Camussi Giovanni, Perfumo Francesco, Ghiggeri Gian Marco

Abstract excerpt

Podocin (NPHS2) is a component of the glomerular slit-diaphragm, with major regulatory functions in renal permeability of proteins. Loss of podocin and decrease in resynthesis may influence the outcome of proteinuric renal disease such as segmental glomerulosclerosis (FSGS), and promoter functionality plays a key role in this process. NPHS2 promoter variants with functional activity may be a part of the problem...

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Source

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Identifiers

PMID: 16572591
DOI: 10.3727/000000006783991926
PMCID: PMC6032451

Genes

NPHS2

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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Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome.PMID 16572591Read ↗

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