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

Phenotypic spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2025

Pincay Jorge, da Costa Bruna Lopes, Quinn Peter M J, Rodriguez Marilyn, Zhou Ashley, Kong Maximilian D, Sparrow Janet R, Tsang Stephen H

Abstract excerpt

PURPOSE: The ciliopathies are a broad category of pleiotropic disease with numerous genes involved in pathogenesis. One of the genes implicated in the ciliopathies is WDR19, which can lead to several syndromic diseases that may manifest with a form of retinal degeneration. There is a lack of reporting on the WDR19-mediated retinal phenotype, and therefore warrants more clinical investigation. With retinal...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Fluorescein Angiography

Share to Pedigree

Share to Retinal Degeneration

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 40183892
DOI: 10.1007/s10633-025-10016-3
PMCID: PMC12137442

Genes

PAM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

Phenotypic spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration.PMID 40183892Read ↗

WDR19-associated retinopathy presenting with adult-onset Stargardt-like phenotype.Semantic proximity Read ↗

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 GeneSemantic proximity Read ↗

Future Perspectives of Prime Editing for the Treatment of Inherited Retinal Diseases.Semantic proximity Read ↗

A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia.Semantic proximity Read ↗

Identification of RPGR ORF15 mutation for X-linked retinitis pigmentosa in a large Chinese family and in vitro correction with prime editor.Semantic proximity Read ↗

Loss of<i>GFAP</i>causes optico-retinal dysplasia and vision impairmentSemantic proximity Read ↗

In vivo application of base and prime editing to treat inherited retinal diseasesSemantic proximity Read ↗

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.Semantic proximity Read ↗

Integrated genetic code expansion and structural bioinformatics reveal disrupted supramolecular assembly in a genetic disorderSemantic proximity Read ↗

WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma.Semantic proximity Read ↗

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