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

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jun 2016

Gast Christine, Pengelly Reuben J, Lyon Matthew, Bunyan David J, Seaby Eleanor G, Graham Nikki, Venkat-Raman Gopalakrishnan, Ennis Sarah

Abstract excerpt

BACKGROUND: Multiple genes underlying focal segmental glomerulosclerosis (FSGS) and/or steroid-resistant nephrotic syndrome (SRNS) have been identified, with the recent inclusion of collagen IV mutations responsible for Alport disease (AD) or thin basement membrane nephropathy (TBMN). We aimed to investigate the distribution of gene mutations in adult patients with primary FSGS/SRNS by targeted next generation...

Read the complete abstract on PubMed

Topics

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

Share to Aged, 80 and over
Share to Collagen Type IV

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Glomerulosclerosis, Focal Segmental

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Share to Infant, Newborn

Source

Identifiers

PMID: 26346198
DOI: 10.1093/ndt/gfv325

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

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.PMID 26346198Read ↗

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.Semantic proximity Read ↗

Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.Semantic proximity Read ↗

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.Semantic proximity Read ↗

Targeted NGS panel reveals a high burden of collagen IV, podocyte, and transcription factor gene mutations in biopsy-proven focal segmental glomerulosclerosisSemantic proximity Read ↗

Deciphering the Genetic Basis of Focal Segmental Glomerulosclerosis Using Next-Generation SequencingSemantic proximity Read ↗

Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.Semantic proximity Read ↗

Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes.Semantic proximity Read ↗

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease.Semantic proximity Read ↗

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.Semantic proximity Read ↗

A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis.Semantic proximity Read ↗

COL4A3 mutations cause focal segmental glomerulosclerosis.Semantic proximity Read ↗

Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.Semantic proximity Read ↗

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