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Article

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

The Journal of clinical investigation - 1 Dec 2002

Tsukaguchi Hiroyasu, Sudhakar Akulapalli, Le Tu Cam, Nguyen Trang, Yao Jun, Schwimmer Joshua A, Schachter Asher D, Poch Esteban, Abreu Patricia F, Appel Gerald B, Pereira Aparecido B, Kalluri Raghu, Pollak Martin R

Abstract excerpt

Mutations in NPHS2, encoding podocin, have been identified in childhood onset focal and segmental glomerulosclerosis (FSGS). The role of NPHS2 in adult disease is less well defined. We studied 30 families with FSGS and apparent autosomal recessive inheritance and 91 individuals with primary FSGS....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genes, Recessive

Share to Glomerulosclerosis, Focal Segmental

Share to Intracellular Signaling Peptides and Proteins

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Source

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Identifiers

PMID: 12464671
DOI: 10.1172/JCI16242
PMCID: PMC151634

Genes

NPHS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12464671-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.PMID 12464671Read ↗

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

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

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