Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The genetic basis of FSGS and steroid-resistant nephrosis.

Seminars in nephrology - 1 Mar 2003

Pollak Martin R

Abstract excerpt

Studies of Mendelian forms of focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome have provided new insights into the mechanism of these diseases. Congenital nephrotic syndrome and familial forms of FSGS form a spectrum of podocyte diseases of varying severity and age of onset. Mutations in both nephrin gene (NPHS1) alleles lead to congenital nephrosis, podocyte foot process efacement, and loss of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Drug Resistance
Share to Epithelial Cells
Share to Glomerulosclerosis, Focal Segmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracellular Signaling Peptides and Proteins

Share to Kidney Glomerulus

Share to Nephrotic Syndrome

Share to Point Mutation

Share to Steroids

Source

Identifiers

PMID: 12704574
DOI: 10.1053/snep.2003.50014

Genes

ACTN4
NPHS1
NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The genetic basis of FSGS and steroid-resistant nephrosis.PMID 12704574Read ↗

Molecular basis of steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Advances in molecular diagnosis and therapeutics in nephrotic syndrome and focal and segmental glomerulosclerosis.Semantic proximity Read ↗

Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.Semantic proximity Read ↗

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

Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.Semantic proximity Read ↗

Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria.Semantic proximity Read ↗

Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.Semantic proximity Read ↗

Genetics of hereditary nephrotic syndrome: a clinical reviewSemantic proximity Read ↗

Genetic kidney diseases disclose the pathogenesis of proteinuria.Semantic proximity Read ↗

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

[A genetic viewpoint of focal glomerular sclerosis: fom genes to glomerular pathophysiology [corrected]].Semantic proximity Read ↗

Genetic basis of nephrotic syndrome--review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.