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

Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis.

Pediatric nephrology (Berlin, Germany) - 1 Mar 2024

Zhu Victor, Huang Tess, Wang David, Colville Deb, Mack Heather, Savige Judy

Abstract excerpt

Genetic forms of focal and segmental glomerulosclerosis (FSGS) often have extra-renal manifestations. This study examined FSGS-associated genes from the Genomics England Renal proteinuria panel for reported and likely ocular features. Thirty-two of the 55 genes (58%) were associated with ocular abnormalities in human disease, and a further 12 (22%) were expressed in the retina or had an eye phenotype in mouse...

Read the complete abstract on PubMed

Topics

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

Share to Glomerulosclerosis, Focal Segmental
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Atrophy

Share to DNA Helicases

Share to Kidney

Share to Mutation

Share to Nephrotic Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 37578539
DOI: 10.1007/s00467-023-06073-y
PMCID: PMC10817844

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

Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis.PMID 37578539Read ↗

Ocular manifestations of renal ciliopathiesSemantic proximity Read ↗

Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT)Semantic proximity Read ↗

Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adultsSemantic 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 ↗

Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice.Semantic proximity Read ↗

The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Semantic proximity Read ↗

Contribution of Recessive Ciliopathy Genes in a Highly Consanguineous Adult Cohort with Biopsy-Proven Focal Segmental GlomerulosclerosisSemantic proximity Read ↗

Genetic Causes of Nephrotic Syndrome and Focal and Segmental Glomerulosclerosis.Semantic proximity Read ↗

When should the nephrologist think about genetics in patients with glomerular diseases?Semantic proximity Read ↗

A Review of Focal Segmental Glomerulosclerosis Classification With a Focus on Genetic AssociationsSemantic proximity Read ↗

Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.Semantic proximity Read ↗

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