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

Mutation Analysis of Thin Basement Membrane Nephropathy.

Genes - 2 Oct 2022

Hirabayashi Yosuke, Katayama Kan, Mori Mutsuki, Matsuo Hiroshi, Fujimoto Mika, Joh Kensuke, Murata Tomohiro, Ito Masaaki, Dohi Kaoru

Abstract excerpt

Thin basement membrane nephropathy (TBMN) is characterized by the observation of microhematuria and a thin glomerular basement membrane on kidney biopsy specimens. Its main cause is heterozygous mutations of COL4A3 or COL4A4, which also cause late-onset focal segmental glomerulosclerosis (FSGS) or autosomal dominant Alport syndrome (ADAS). Thirteen TBMN cases were analyzed using Sanger sequencing, multiplex...

Read the complete abstract on PubMed

Topics

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

Share to Basement Membrane
Share to Collagen Type IV
Share to Glomerulosclerosis, Focal Segmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycine

Share to Mutation

Share to Nephritis, Hereditary

Share to Nucleotides

Source

Open in PubMed Open full text

Identifiers

PMID: 36292665
DOI: 10.3390/genes13101779
PMCID: PMC9602179

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

Mutation Analysis of Thin Basement Membrane Nephropathy.PMID 36292665Read ↗

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

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

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

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

Aberrant serum-derived FN1 variants bind to integrin β1 on glomerular endothelial cells contributing to thin basement membrane nephropathy.Semantic proximity Read ↗

The clinical features 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 ↗

Thin basement membrane nephropathy.Semantic proximity Read ↗

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

Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis.Semantic 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 ↗

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