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

A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy.

Scientific reports - 2 Feb 2016

Xu Yan, Guo Min, Dong Hui, Jiang Wei, Ma Ruixia, Liu Shiguo, Li Shenqian

Abstract excerpt

Thin basement membrane nephropathy (TBMN) is often attributable to mutations in the COL4A3 or COL4A4 genes that encode the α3 and α4 chains of type IV collagen, respectively, a major structural protein in the glomerular basement membrane. The aim of this study was to explore a new disease-related genetic mutation associated with the clinical phenotype observed in a Chinese Han family with autosomal dominant TBMN....

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Biopsy
Share to Collagen Type IV

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Glomerular Basement Membrane

Share to Glomerulonephritis, Membranous

Share to RNA Splice Sites

Source

Open in PubMed Open full text

Identifiers

PMID: 26833262
DOI: 10.1038/srep20244
PMCID: PMC4735746

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

A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy.PMID 26833262Read ↗

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature ReviewSemantic proximity Read ↗

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.Semantic proximity Read ↗

Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.Semantic proximity Read ↗

Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.Semantic proximity Read ↗

COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN)Semantic proximity Read ↗

Mutation Analysis of Thin Basement Membrane Nephropathy.Semantic proximity Read ↗

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

The genetics of thin basement membrane nephropathy.Semantic proximity Read ↗

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.Semantic proximity Read ↗

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.Semantic proximity Read ↗

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.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 ↗

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