ArticleDatabase : the journal of biological databases and curation2014
'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration.
Article in Database : the journal of biological databases and curation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed.
- Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.Scientific reports · 2024Article
- CRX haploinsufficiency compromises photoreceptor precursor translocation and differentiation in human retinal organoids.Stem cell research & therapy · 2023Article
- Neuroprotective Effects of Tauroursodeoxicholic Acid Involves Vascular and Glial Changes in Retinitis Pigmentosa Model.Frontiers in neuroanatomy · 2022Article
- Overexpression of CERKL Protects Retinal Pigment Epithelium Mitochondria from Oxidative Stress Effects.Antioxidants (Basel, Switzerland) · 2021Article
- A Review on Mesenchymal Stem Cells for Treatment of Retinal Diseases.Stem cell reviews and reports · 2021Review
- Patient iPSC-derived retinal organoids: Observable retinal diseases in-a-dish.Histology and histopathology · 2021Review
- Genotype-Phenotype Correlations inJournal of clinical medicine · 2021Article
- Article
- Stem Cell Therapy for Retinal Degeneration: The Evidence to Date.Biologics : targets & therapy · 2021Review
- Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort.Frontiers in cell and developmental biology · 2021Article
- Article
- Ablation of Mature miR-183 Leads to Retinal Dysfunction in Mice.Investigative ophthalmology & visual science · 2020Article
- Exome sequencing analysis identifies novel homozygous mutation inInternational journal of ophthalmology · 2020Article
- Nc2Eye: A Curated ncRNAomics Knowledgebase for Bridging Basic and Clinical Research in Eye Diseases.Frontiers in cell and developmental biology · 2020Article
- Soluble CX3CL1 gene therapy improves cone survival and function in mouse models of retinitis pigmentosa.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Article
- Sigma 1 receptor: A novel therapeutic target in retinal disease.Progress in retinal and eye research · 2018Review
- Article
- Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.Documenta ophthalmologica. Advances in ophthalmology · 2018Article
- Gene Correction Reverses Ciliopathy and Photoreceptor Loss in iPSC-Derived Retinal Organoids from Retinitis Pigmentosa Patients.Stem cell reports · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited retinal degeneration (IRD), a leading cause of human blindness worldwide, is exceptionally heterogeneous with clinical heterogeneity and genetic variety. During the past decades, tremendous efforts have been made to explore the complex heterogeneity, and massive mutations have been identified in different genes underlying IRD with the significant advancement of sequencing technology. In this study, we developed a comprehensive database, 'RetinoGenetics', which contains informative knowledge about all known IRD-related genes and mutations for IRD. 'RetinoGenetics' currently contains 4270 mutations in 186 genes, with detailed information associated with 164 phenotypes from 934 publications and various types of functional annotations. Then extensive annotations were performed to each gene using various resources, including Gene Ontology, KEGG pathways, protein-protein interaction, mutational annotations and gene-disease network. Furthermore, by using the search functions, convenient browsing ways and intuitive graphical displays, 'RetinoGenetics' could serve as a valuable resource for unveiling the genetic basis of IRD. Taken together, 'RetinoGenetics' is an integrative, informative and updatable resource for IRD-related genetic predispositions. Database URL: http://www.retinogenetics.org/.
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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.