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Article

NPHS2 variation in sporadic focal segmental glomerulosclerosis.

Journal of the American Society of Nephrology : JASN - 1 Nov 2007

McKenzie Louise M, Hendrickson Sher L, Briggs William A, Dart Richard A, Korbet Stephen M, Mokrzycki Michelle H, Kimmel Paul L, Ahuja Tejinder S, Berns Jeffrey S, Simon Eric E, Smith Michael C, Trachtman Howard, Michel Donna M, Schelling Jeffrey R, Cho Monique, Zhou Yu C, Binns-Roemer Elizabeth, Kirk Gregory D, Kopp Jeffrey B, Winkler Cheryl A

Abstract excerpt

Mutations in NPHS2, the gene that encodes podocin, are well-established causes of both familial and sporadic steroid-resistant focal segmental glomerulosclerosis (FSGS) in the pediatric population, but have not been well-characterized in late-onset disease. To investigate the role of NPHS2 polymorphisms in sporadic cases of late-onset FSGS, we studied 377 biopsy-confirmed FSGS cases and 919 controls. We...

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Source

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Identifiers

PMID: 17942957
DOI: 10.1681/ASN.2007030319
PMCID: PMC4096868

Genes

NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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NPHS2 variation in sporadic focal segmental glomerulosclerosis.PMID 17942957Read ↗

NPHS2 variation in focal and segmental glomerulosclerosis.Semantic proximity Read ↗

Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.Semantic proximity Read ↗

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.Semantic proximity Read ↗

Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis.Semantic proximity Read ↗

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.Semantic proximity Read ↗

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated alleleSemantic proximity Read ↗

The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.Semantic proximity Read ↗

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.Semantic proximity Read ↗

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

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.Semantic proximity Read ↗

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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