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

CrxRdy Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis.

Investigative ophthalmology & visual science - 1 Jul 2016

Occelli Laurence M, Tran Nicholas M, Narfström Kristina, Chen Shiming, Petersen-Jones Simon M

Abstract excerpt

PURPOSE: Mutations in the retinal transcription factor cone-rod homeobox (CRX) gene result in severe dominant retinopathies. A large animal model, the Rdy cat, carrying a spontaneous frameshift mutation in Crx, was reported previously. The present study aimed to further understand pathogenesis in this model by thoroughly characterizing the Rdy retina. METHODS: Structural and functional changes were found in a...

Read the complete abstract on PubMed

Topics

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

Share to Cats
Share to Dark Adaptation
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Leber Congenital Amaurosis

Share to Retina

Share to Retinal Cone Photoreceptor Cells

Share to Sensory Thresholds

Source

Open in PubMed Open full text

Identifiers

PMID: 27427859
DOI: 10.1167/iovs.16-19444
PMCID: PMC4960999

Genes

CRX
ERG

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

CrxRdy Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis.PMID 27427859Read ↗

Cat LCA-CRX Model, Homozygous for an Antimorphic Mutation Has a Unique Phenotype.Semantic proximity Read ↗

Cat LCA- <i>CRX</i> model, homozygous for an antimorphic mutation has a unique phenotypeSemantic proximity Read ↗

Mutation discovered in a feline model of human congenital retinal blinding disease.Semantic proximity Read ↗

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.Semantic proximity Read ↗

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness.Semantic proximity Read ↗

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.Semantic proximity Read ↗

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.Semantic proximity Read ↗

Transcriptional precision in photoreceptor development and diseases – Lessons from 25 years of CRX researchSemantic proximity Read ↗

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosisSemantic proximity Read ↗

A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype.Semantic proximity Read ↗

Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies.Semantic proximity Read ↗

Functional Domains of the Cone-Rod Homeobox (CRX) Transcription FactorSemantic proximity Read ↗

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