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

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

PloS one - 1 Jan 2017

Chung Doug D, Frausto Ricardo F, Cervantes Aleck E, Gee Katherine M, Zakharevich Marina, Hanser Evelyn M, Stone Edwin M, Heon Elise, Aldave Anthony J

Abstract excerpt

PURPOSE: To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals without ZEB1 coding region mutations. METHODS: The promoter, 5' UTR, and coding regions of OVOL2 was screened in the PPCD family in which linkage analysis established the PPCD1 locus and in 26 PPCD probands who did not harbor a ZEB1 mutation. Copy number...

Read the complete abstract on PubMed

Topics

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

Share to 5' Untranslated Regions
Share to Chromosome Segregation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 20

Share to Corneal Dystrophies, Hereditary

Share to DNA Copy Number Variations

Share to Family

Share to Genetic Loci

Share to Zinc Finger E-box-Binding Homeobox 1

Source

Open in PubMed Open full text

Identifiers

PMID: 28046031
DOI: 10.1371/journal.pone.0169215
PMCID: PMC5207508

Genes

OVOL2
ZEB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.PMID 28046031Read ↗

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

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

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

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.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 ↗

Transcriptomic Profiling of Posterior Polymorphous Corneal DystrophySemantic proximity Read ↗

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

Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence.Semantic proximity Read ↗

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

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

Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation.Semantic proximity Read ↗

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

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