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

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.

Journal of the American Society of Nephrology : JASN - 1 Feb 2002

Karle Stephanie M, Uetz Barbara, Ronner Vera, Glaeser Lisa, Hildebrandt Friedhelm, Fuchshuber Arno

Abstract excerpt

Autosomal recessive steroid-resistant nephrotic syndrome (SRINS) belongs to the heterogeneous group of familial nephrotic syndrome and represents a frequent cause of end-stage renal disease in childhood. This kidney disorder is characterized by early onset of proteinuria, progression to end-stage...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Recombinant
Share to Drug Resistance
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracellular Signaling Peptides and Proteins

Share to Membrane Proteins

Share to Mutation, Missense

Share to Nephrotic Syndrome

Share to Steroids

Source

Identifiers

PMID: 11805166
DOI: 10.1681/ASN.V132388

Genes

NPHS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11805166-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.PMID 11805166Read ↗

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

Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.Semantic proximity Read ↗

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

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

NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children.Semantic proximity Read ↗

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

Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.Semantic proximity Read ↗

NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome.Semantic proximity Read ↗

NPHS2 mutations.Semantic proximity Read ↗

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

A novel mutation of NPHS2 identified in a Chinese family.Semantic proximity Read ↗

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