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

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.

American journal of medical genetics. Part A - 1 Aug 2018

Ankala Arunkanth, Jain Nieraj, Hubbard Baker, Alexander John J, Shankar Suma P

Abstract excerpt

Wagner syndrome and erosive vitreoretinopathy together constitute the phenotypic continuum of an autosomal dominant vitreoretinopathy, with clinical findings typically isolated to the eye. The disease is caused by pathogenic variants in the VCAN gene and all such variants reported to date are those that plausibly result in haploinsufficiency of exon 8 containing vcan transcripts. Here, we report the molecular...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type II
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Pedigree

Share to Retinal Degeneration

Share to Retinal Detachment

Share to Retinitis Pigmentosa

Share to Sequence Deletion

Source

Identifiers

PMID: 30055036
DOI: 10.1002/ajmg.a.38855

Genes

VCAN

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

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.PMID 30055036Read ↗

A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.Semantic proximity Read ↗

A family with Wagner syndrome with uveitis and a new versican mutation.Semantic proximity Read ↗

Identification of Novel Copy Number Variations of VCAN Gene in Three Chinese Families with Wagner Disease.Semantic proximity Read ↗

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.Semantic proximity Read ↗

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.Semantic proximity Read ↗

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.Semantic proximity Read ↗

Multimodal Evaluation and Management of Wagner Syndrome-Three Patients from an Affected Family.Semantic proximity Read ↗

Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.Semantic proximity Read ↗

Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy.Semantic proximity Read ↗

Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy.Semantic proximity Read ↗

Identification of the genetic defect in the original Wagner syndrome family.Semantic proximity Read ↗

De novo splice mutation in the versican gene in a family with Wagner syndrome.Semantic proximity Read ↗

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