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

Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci.

Human molecular genetics - 19 Jun 2023

Ripolles-Garcia Ana, Murgiano Leonardo, Ziolkowska Natalia, Marinho Felipe Pompeo, Roszak Karolina, Iffrig Sommer, Aguirre Gustavo D, Miyadera Keiko

Abstract excerpt

Canine RPGRIP1-cone-rod dystrophy (CRD), a model for human inherited retinal diseases (IRDs), was originally identified as autosomal recessive early-onset blindness. However, later studies revealed extensive phenotypic variability among RPGRIP1 mutants. This led to the identification of a homozygous MAP9 variant as a modifier associated with early-onset disease. Based on further phenotypic variation affecting...

Read the complete abstract on PubMed

Topics

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

Share to Cone-Rod Dystrophies
Share to Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Homozygote

Share to Microtubule-Associated Proteins

Share to Phenotype

Share to Retina

Share to Retinal Cone Photoreceptor Cells

Source

Open in PubMed Open full text

Identifiers

PMID: 36951959
DOI: 10.1093/hmg/ddad046
PMCID: PMC10281748

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci.PMID 36951959Read ↗

Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration.Semantic proximity Read ↗

Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration.Semantic proximity Read ↗

Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.Semantic proximity Read ↗

Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.Semantic proximity Read ↗

IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds.Semantic proximity Read ↗

Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 PatientsSemantic proximity Read ↗

RPGRIP1 and cone-rod dystrophy in dogs.Semantic proximity Read ↗

Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71.Semantic proximity Read ↗

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

Molecular studies of phenotype variation in canine RPGR-XLPRA1.Semantic proximity Read ↗

A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal AtrophySemantic proximity Read ↗

Discovery of a Novel Missense Mutation in the RIMS1 Gene Potentially Enhances the Severity of Retinitis Pigmentosa (RP) Caused by RP1 Mutation in HumansSemantic proximity Read ↗

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