ArticleInternational journal of molecular sciences2021
Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling.
Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 29 citations in OpenAlex.
- Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Biomolecules · 2025Review
- Primary versus Secondary Elevations in Fundus Autofluorescence.International journal of molecular sciences · 2023Review
- Comprehensive LncRNA and Potential Molecular Mechanism Analysis in Noninfectious Uveitis.Translational vision science & technology · 2023Article
- Research Progress and Potential Applications of Spermidine in Ocular Diseases.Pharmaceutics · 2022Review
- Retrospective Natural History Study ofInternational journal of molecular sciences · 2022Article
- Effect of Photobiomodulation in Suppression of Oxidative Stress on Retinal Pigment Epithelium.International journal of molecular sciences · 2022Article
- Retinitis Pigmentosa: Progress in Molecular Pathology and Biotherapeutical Strategies.International journal of molecular sciences · 2022Review
- Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.International journal of molecular sciences · 2022Article
- Applying Protein-Protein Interactions and Complex Networks to Identify Novel Genes in Retinitis Pigmentosa Pathogenesis.International journal of molecular sciences · 2022Article
- Article
- Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.PLoS genetics · 2022Article
- Inhibition of Neuronal Necroptosis Mediated by RIPK1 Provides Neuroprotective Effects on Hypoxia and Ischemia In Vitro and In Vivo.International journal of molecular sciences · 2022Article
- Genomics in Egypt: Current Status and Future Aspects.Frontiers in genetics · 2022Review
- Article
- Neurovascular Impairment and Therapeutic Strategies in Diabetic Retinopathy.International journal of environmental research and public health · 2021Review
- The Communication between Ocular Surface and Nasal Epithelia in 3D Cell Culture Technology for Translational Research: A Narrative Review.International journal of molecular sciences · 2021Review
- Genetic and Phenotypic Landscape ofGenes · 2021Article
- Identification of Estrogen Signaling in a Prioritization Study of Intraocular Pressure-Associated Genes.International journal of molecular sciences · 2021Article
- Metabolomics in Retinal Diseases: An Update.Biology · 2021Review
- Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRetinitis pigmentosa punctata albescens (RPA) is a particular form of retinitis pigmentosa characterized by childhood onset night blindness and areas of peripheral retinal atrophy. We investigated the genetic cause of RPA in a family consisting of two affected Egyptian brothers with healthy consanguineous parents.
methodsMutational analysis of four RPA causative genes was realized by Sanger sequencing on both probands, and detected variants were subsequently genotyped in their parents. Afterwards, found variants were deeply, statistically, and in silico characterized to determine their possible effects and association with RPA.
resultsBoth brothers carry three missense
conclusionsDespite several limitations, the study might be a relevant step towards detection of novel scenarios in RPA etiopathogenesis.
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