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Article

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

Journal of the American Society of Nephrology : JASN - 1 Dec 2001

Caridi Gianluca, Bertelli Roberta, Carrea Alba, Di Duca Marco, Catarsi Paolo, Artero Mary, Carraro Michele, Zennaro Cristina, Candiano Giovanni, Musante Luca, Seri Marco, Ginevri Fabrizio, Perfumo Francesco, Ghiggeri Gian Marco

Abstract excerpt

Podocin mutations (NPHS2 gene) are responsible for the autosomal recessive form of steroid-resistant nephrotic syndrome. As a result of a screening for these gene alterations in a cohort of Italian patients with nonfamilial nephrotic syndrome and histologic focal segmental glomerulosclerosis (FSG...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glomerulosclerosis, Focal Segmental

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Source

Identifiers

PMID: 11729243
DOI: 10.1681/ASN.V12122742

Genes

NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11729243-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.PMID 11729243Read ↗

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

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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

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

NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.Semantic proximity Read ↗

NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.Semantic proximity Read ↗

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

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

Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children.Semantic proximity Read ↗

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

Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children.Semantic proximity Read ↗

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