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

Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus.

PloS one - 1 Jan 2016

Le Derek J, Chung Duk-Won D, Frausto Ricardo F, Kim Michelle J, Aldave Anthony J

Abstract excerpt

Posterior polymorphous corneal dystrophy 1 (PPCD1) is a genetic disorder that affects corneal endothelial cell function and leads to loss of visual acuity. PPCD1 has been linked to a locus on chromosome 20 in multiple families; however, Sanger sequencing of protein-coding genes in the consensus region failed to identify any causative missense mutations. In this study, custom capture probes were utilized for...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to Computational Biology
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Family Health

Share to Microfilament Proteins

Share to Microtubule-Associated Proteins

Share to Thrombomodulin

Source

Open in PubMed Open full text

Identifiers

PMID: 27355326
DOI: 10.1371/journal.pone.0158467
PMCID: PMC4927100

Genes

OVOL2

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

Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus.PMID 27355326Read ↗

The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus.Semantic proximity Read ↗

c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.Semantic proximity Read ↗

Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.Semantic proximity Read ↗

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.Semantic proximity Read ↗

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.Semantic proximity Read ↗

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.Semantic proximity Read ↗

Transcriptomic Profiling of Posterior Polymorphous Corneal DystrophySemantic proximity Read ↗

Candidate gene screening for posterior polymorphous dystrophy.Semantic proximity Read ↗

A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10.Semantic proximity Read ↗

Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.Semantic proximity Read ↗

Novel Frameshift Mutation in ZEB1 in a Family with a Severe Form of Posterior Polymorphous Corneal Dystrophy (PPCD)Semantic proximity Read ↗

Update on the genetics of corneal endothelial dystrophiesSemantic proximity Read ↗

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