ArticleCell death discovery2022
Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model.
Article in Cell death discovery, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Clinical and Molecular Features ofOphthalmology science · 2026Article
- Elucidating the genetic landscape of inherited retinal disorders in India.Human genomics · 2026Review
- Single-Cell Transcriptomics onBiomedicines · 2025Article
- Gene augmentation therapy restores vision and preserves photoreceptors in a mouse model of CNGA1-retinitis pigmentosa.Communications medicine · 2025Article
- Utargetome: A targetome prediction tool for modified U1-snRNAs to identify distal-target positions with improved selectivity.PLoS computational biology · 2025Article
- Cyclic nucleotide signaling as a drug target in retinitis pigmentosa.FEBS letters · 2025Review
- Neuroprotective Mechanisms of Ciliary Neurotrophic Factor in Retinal Ganglion Cells: Insights from Microarray Analysis.Korean journal of ophthalmology : KJO · 2025Article
- cGMP Signaling in Photoreceptor Degeneration.International journal of molecular sciences · 2023Review
- CNG channel-related retinitis pigmentosa.Vision research · 2023Article
- Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies.Biomedicines · 2023Review
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
Retinitis pigmentosa is a group of progressive inherited retinal dystrophies that may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. In an Indian family suffering from retinitis pigmentosa, we identified a missense variation in CNGA1 affecting the cyclic nucleotide binding domain (CNBD) and characterized a mouse model developed with mutated CNBD. A gene panel analysis comprising 105 known RP genes was used to analyze a family with autosomal-recessive retinitis pigmentosa (arRP) and revealed that CNGA1 was affected. From sperm samples of ENU mutagenesis derived F
Identifiers
What OpenQuestion holds
Registered trials
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