ArticleScientific reports2017
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.BMC ophthalmology · 2024Pooled it
- Novel Genotype-Phenotype Correlations inOphthalmology science · 2026Article
- Bioinformatics analysis of de novo missense variants inAmerican journal of translational research · 2026Article
- The Specific Pathogenicity Pattern of the DifferentInternational journal of molecular sciences · 2025Article
- Host use drives convergent evolution in clownfish.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Diverse functions and pathogenetic role of Crumbs in retinopathy.Cell communication and signaling : CCS · 2024Review
- Article
- Multimodal imaging in retinitis pigmentosa related to the EYS gene.Arquivos brasileiros de oftalmologia · 2024Article
- Characterization and AAV-mediatedMolecular therapy. Methods & clinical development · 2023Article
- Macular dystrophies associated with Stargardt-like phenotypes.Arquivos brasileiros de oftalmologia · 2023Article
- Clinical and Therapeutic Evaluation of the Ten Most PrevalentBiomedicines · 2023Article
- Generation of CRB1 RP Patient-Derived iPSCs and a CRISPR/Cas9-Mediated Homology-Directed Repair Strategy for the CRB1 c.2480G>T Mutation.Advances in experimental medicine and biology · 2023Article
- Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing.Advances in experimental medicine and biology · 2023Article
- Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy.Open life sciences · 2023Article
- Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model.PLoS genetics · 2022Article
- Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution.Clinical ophthalmology (Auckland, N.Z.) · 2022Article
- CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations SpectrumIranian biomedical journal · 2019Review
- CRB2 Loss in Rod Photoreceptors Is Associated with Progressive Loss of Retinal Contrast Sensitivity.International journal of molecular sciences · 2019Article
- Relative frequency of inherited retinal dystrophies in Brazil.Scientific reports · 2018Article
- A clinical and molecular characterisation of CRB1-associated maculopathy.European journal of human genetics : EJHG · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing. CRB1 is one of many genes analyzed in molecular diagnosis for inherited retinal dystrophy. Crumbs homolog-1 protein encoded by CRB1 is important for cell-to-cell contact, polarization of epithelial cells and the morphogenesis of photoreceptors. Pathogenic variants in CRB1 lead to a huge variety of phenotypes ranging from milder forms of inherited retinal dystrophy, such as retinitis pigmentosa to more severe phenotypes such as Leber congenital amaurosis. In this study, seven novel likely-pathogenic variants were identified: four missense variants (p.Leu479Pro, p.Ala921Pro, p.Cys948Arg and p.Asp1031Asn), two frameshift deletions (c.2536_2542del7 and c.3460_3461delTG) and one frameshift indel variant (c.276_294delinsTGAACACTGTAC). Furthermore, two patients with cone-rod dystrophy due to mutations in CRB1 were reported, supporting previous data, in which mutations in CRB1 can also cause cone-rod dystrophy. Finally, our data suggested there was a direct relation between phenotype severity and the mutation effect on protein functionality in 15 Brazilian CRB1 patients.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.