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

Mutation discovered in a feline model of human congenital retinal blinding disease.

Investigative ophthalmology & visual science - 1 Jun 2010

Menotti-Raymond Marilyn, Deckman Koren Holland, David Victor, Myrkalo Jaimie, O'Brien Stephen J, Narfström Kristina

Abstract excerpt

PURPOSE: To elucidate the gene defect in a pedigree of cats segregating for autosomal dominant rod-cone dysplasia (Rdy), a retinopathy characterized extensively from a clinical perspective. Disease expression in Rdy cats is comparable to that in young patients with congenital blindness (Leber con...

Read the complete abstract on PubMed

Topics

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

Share to Cat Diseases
Share to Cats
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dark Adaptation

Share to Electroretinography

Share to Homeodomain Proteins

Share to Photoreceptor Cells, Vertebrate

Share to Trans-Activators

Source

Open in PubMed Open full text

Identifiers

PMID: 20053974
DOI: 10.1167/iovs.09-4261
PMCID: PMC2891453

Genes

CRX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20053974-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation discovered in a feline model of human congenital retinal blinding disease.PMID 20053974Read ↗

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

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

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

Canine and Feline Models of Inherited Retinal Diseases.Semantic proximity Read ↗

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

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.Semantic proximity Read ↗

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.Semantic proximity Read ↗

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.Semantic proximity Read ↗

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

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy.Semantic proximity Read ↗

Nasal Retinal Degeneration Is a Feature of a Subset of CRX-Associated Retinopathies.Semantic proximity Read ↗

A recurrent arcuate retinopathy in familial cone-rod dystrophy secondary to heterozygous CRX deletion.Semantic proximity Read ↗

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