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

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.

Biomolecules - 1 Feb 2023

Manley Andrew, Meshkat Bahar I, Jablonski Monica M, Hollingsworth T J

Abstract excerpt

Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial. These diseases are most often the result of defects in rod and/or cone photoreceptor and retinal pigment epithelium function, development, or both. The genes associated with these diseases, when mutated, produce altered protein...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Ocular Oncology and Treatments
Share to Retina

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

Share to Retinal Cone Photoreceptor Cells

Share to Retinal Development and Disorders

Share to Retinal Diseases and Treatments

Share to Retinal Dystrophies

Share to Vision, Ocular

Source

Open in PubMed Open full text

Identifiers

PMID: 36830640
DOI: 10.3390/biom13020271
PMCID: PMC9953031

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

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.PMID 36830640Read ↗

Molecular aspects of retinal degenerative diseases.Semantic proximity Read ↗

Cell-cell interaction in the pathogenesis of inherited retinal diseasesSemantic proximity Read ↗

The molecular basis of human retinal and vitreoretinal diseases.Semantic proximity Read ↗

Molecular Mechanisms Governing Sight Loss in Inherited Cone DisordersSemantic proximity Read ↗

Inherited retinal diseases: Therapeutics, clinical trials and end points—A reviewSemantic proximity Read ↗

Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic AspectsSemantic proximity Read ↗

Pathways to photoreceptor cell death in inherited retinal degenerationsSemantic proximity Read ↗

Retinitis pigmentosa and allied conditions today: a paradigm of translational researchSemantic proximity Read ↗

The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders.Semantic proximity Read ↗

History of Finding Genes and Mutations Causing Inherited Retinal Diseases.Semantic proximity Read ↗

[Genetic causes of retinal degeneration].Semantic proximity Read ↗

Unravelling the genetics of inherited retinal dystrophies: Past, present and futureSemantic proximity Read ↗

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