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 COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.

Ophthalmology - 1 Apr 2016

Oliver Verity F, van Bysterveldt Katherine A, Cadzow Murray, Steger Bernhard, Romano Vito, Markie David, Hewitt Alex W, Mackey David A, Willoughby Colin E, Sherwin Trevor, Crosier Philip S, McGhee Charles N, Vincent Andrea L

Abstract excerpt

PURPOSE: Corneal dystrophies are a genetically heterogeneous group of disorders. We previously described a family with an autosomal dominant epithelial recurrent erosion dystrophy (ERED). We aimed to identify the underlying genetic cause of ERED in this family and 3 additional ERED families. We sought to characterize the potential function of the candidate genes using the human and zebrafish cornea. DESIGN: Case...

Read the complete abstract on PubMed

Topics

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

Share to Autoantigens
Share to Collagen Type XVII

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Dystrophies, Hereditary

Share to Epithelium, Corneal

Share to Gene Silencing

Share to HSP40 Heat-Shock Proteins

Share to Microscopy, Confocal

Share to Non-Fibrillar Collagens

Source

Identifiers

PMID: 26786512
DOI: 10.1016/j.ophtha.2015.12.008

Genes

DNAJC9

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

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.PMID 26786512Read ↗

Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).Semantic proximity Read ↗

Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24.Semantic proximity Read ↗

Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family.Semantic proximity Read ↗

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.Semantic proximity Read ↗

Update on the genetics of corneal endothelial dystrophiesSemantic proximity Read ↗

More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeSemantic proximity Read ↗

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.Semantic proximity Read ↗

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.Semantic proximity Read ↗

Whole-Exome Sequencing Identified a Novel Mutation in an Iranian Patient with Epidermolysis Bullosa.Semantic proximity Read ↗

Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation.Semantic proximity Read ↗

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and MaintenanceSemantic proximity Read ↗

Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.Semantic proximity Read ↗

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