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

Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Mar 2010

Benoit Geneviève, Machuca Eduardo, Nevo Fabien, Gribouval Olivier, Lepage David, Antignac Corinne

Abstract excerpt

Mutations in podocyte genes have been identified in patients with steroid-resistant nephrotic syndrome (SRNS). Point mutations in the ACTN4 gene cause an autosomal dominant form of human focal segmental glomerular sclerosis (FSGS); however, reports of CD2AP mutations remain scarce. Based on the phenotype of Actn4 and Cd2ap null mice, we aimed to define the role of recessive CD2AP and ACTN4 mutations in a cohort...

Read the complete abstract on PubMed

Topics

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

Share to Actinin
Share to Anti-Inflammatory Agents

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Drug Resistance

Share to Kidney

Share to Kidney Failure, Chronic

Share to Nephrotic Syndrome

Share to Steroids

Source

Identifiers

PMID: 19956976
DOI: 10.1007/s00467-009-1372-x

Genes

ACTN4
NPHS1
NPHS2
PLCE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.PMID 19956976Read ↗

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

The genetic basis of FSGS and steroid-resistant nephrosis.Semantic proximity Read ↗

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

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

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in childrenSemantic proximity Read ↗

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

MAGI2 Mutations Cause Congenital Nephrotic Syndrome.Semantic proximity Read ↗

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

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

Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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

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