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Article

NPHS2 variation in focal and segmental glomerulosclerosis.

BMC nephrology - 29 Sept 2008

Tonna Stephen J, Needham Alexander, Polu Krishna, Uscinski Andrea, Appel Gerald B, Falk Ronald J, Katz Avi, Al-Waheeb Salah, Kaplan Bernard S, Jerums George, Savige Judy, Harmon Jennifer, Zhang Kang, Curhan Gary C, Pollak Martin R

Abstract excerpt

BACKGROUND: Focal and segmental glomerulosclerosis (FSGS) is the most common histologic pattern of renal injury seen in adults with idiopathic proteinuria. Homozygous or compound heterozygous mutations in the podocin gene NPHS2 are found in 10-30% of pediatric cases of steroid resistant nephrosis and/or FSGS. METHODS: We studied the spectrum of genetic variation in 371 individuals with predominantly late onset...

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Source

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Identifiers

PMID: 18823551
DOI: 10.1186/1471-2369-9-13
PMCID: PMC2569023

Genes

NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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NPHS2 variation in focal and segmental glomerulosclerosis.PMID 18823551Read ↗

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

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