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Article

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

Clinical journal of the American Society of Nephrology : CJASN - 1 Jan 2007

He Ning, Zahirieh Alireza, Mei Yan, Lee Brian, Senthilnathan Sean, Wong Betty, Mucha Bettina, Hildebrandt Friedhelm, Cole David E, Cattran Daniel, Pei York

Abstract excerpt

Recessive NPHS2 (podocin) mutations account for up to approximately 30% of steroid-resistant idiopathic FSGS in children and are associated with a reduced risk for disease recurrence after renal transplantation. R229Q, a missense variant that is present in 3.6% of the white population, has been i...

Read the complete abstract on PubMed

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Share to Glomerulosclerosis, Focal Segmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17699384
DOI: 10.2215/CJN.02690806

Genes

NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17699384-2026-09-02.2. 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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Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.PMID 17699384Read ↗

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 ↗

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

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

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.Semantic 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, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.Semantic proximity Read ↗

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.Semantic proximity Read ↗

mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis.Semantic proximity Read ↗

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