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Article

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

Journal of the American Society of Nephrology : JASN - 1 Feb 2008

Hinkes Bernward, Vlangos Christopher, Heeringa Saskia, Mucha Bettina, Gbadegesin Rasheed, Liu Jinhong, Hasselbacher Katrin, Ozaltin Fatih, Hildebrandt Friedhelm

Abstract excerpt

Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype-phenotype correlation between podocin mutations and age of onset, a worldwide cohort of 430 patients from 404 different families with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18216321
DOI: 10.1681/ASN.2007040452
PMCID: PMC2396749

Genes

NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18216321-2026-09-02.2. 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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Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.PMID 18216321Read ↗

Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life.Semantic proximity Read ↗

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

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).Semantic proximity Read ↗

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.Semantic proximity Read ↗

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene.Semantic proximity Read ↗

NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.Semantic proximity Read ↗

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).Semantic proximity Read ↗

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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

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