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

Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model.

PLoS genetics - 1 Jun 2022

Weatherly Sonia M, Collin Gayle B, Charette Jeremy R, Stone Lisa, Damkham Nattaya, Hyde Lillian F, Peterson James G, Hicks Wanda, Carter Gregory W, Naggert Jürgen K, Krebs Mark P, Nishina Patsy M

Abstract excerpt

Mutations in the apicobasal polarity gene CRB1 lead to diverse retinal diseases, such as Leber congenital amaurosis, cone-rod dystrophy, retinitis pigmentosa (with and without Coats-like vasculopathy), foveal retinoschisis, macular dystrophy, and pigmented paravenous chorioretinal atrophy. Limited correlation between disease phenotypes and CRB1 alleles, and evidence that patients sharing the same alleles often...

Read the complete abstract on PubMed

Topics

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

Share to Eye Proteins
Share to Isoenzymes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Nerve Tissue Proteins

Share to Protein Kinase C

Share to Retina

Share to Retinal Degeneration

Share to Rho Guanine Nucleotide Exchange Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 35675330
DOI: 10.1371/journal.pgen.1009798
PMCID: PMC9212170

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

Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model.PMID 35675330Read ↗

Identification of <i>Arhgef12</i> and <i>Prkci</i> as Genetic Modifiers of Retinal Dysplasia in the <i> Crb1 <sup>rd8</sup> </i> Mouse ModelSemantic proximity Read ↗

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.Semantic proximity Read ↗

CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in miceSemantic proximity Read ↗

Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotypeSemantic proximity Read ↗

Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene.Semantic proximity Read ↗

The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors.Semantic proximity Read ↗

The retinal phenotype of Grk1-/- is compromised by a Crb1 rd8 mutation.Semantic proximity Read ↗

Current perspectives in Leber congenital amaurosis type 8 mouse modeling.Semantic proximity Read ↗

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retinaSemantic proximity Read ↗

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.Semantic proximity Read ↗

Detailed Comparison Between Two Main Phenotypes of CRB1-Related Retinal Dystrophy, Pan-retinopathy and Maculopathy.Semantic proximity Read ↗

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.Semantic proximity Read ↗

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