ReviewHuman genomics2023
Genetics in ophthalmology: molecular blueprints of retinoblastoma.
Review in Human genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Analysing Differential Alternative Splicing Events and Their Impact on Retinoblastoma Progression Using RNA-seq Metadata.Asian Pacific journal of cancer prevention : APJCP · 2025Pooled it
- MYCN Amplification Drives Ferroptosis Susceptibility via Cysteine Metabolism in Retinoblastoma.Investigative ophthalmology & visual science · 2026Article
- Management of Retinoblastoma: A Challenge in Pediatric Ophthalmology.Life (Basel, Switzerland) · 2026Review
- Revisiting low penetrance retinoblastoma: an integrated clinical, genetic, and bioinformatic analysis.Human molecular genetics · 2026Article
- Noncoding RNAs in Pediatric Solid Tumors: Advances in Understanding and Critical Knowledge Gaps.Cells · 2026Review
- Retinoblastoma: unveiling molecular pathogenesis and pioneering organoid-driven therapeutic innovations.Stem cell research & therapy · 2026Review
- Article
- Epigenetic Factors in Pathogenesis of Retinoblastoma: DNA Methylation and Histone Acetylation.Current issues in molecular biology · 2025Review
- A Comprehensive Review of the Epidemiology, Pathophysiology, Risk Factors, and Treatment Strategies for Retinoblastoma.Diseases (Basel, Switzerland) · 2025Review
- Genetics of Retinoblastoma: An Overview and Significance of Genetic Testing in Clinical Practice.Genes · 2025Review
- Insights into retinoblastoma pathogenesis: unraveling RB1, N-MYC and miRNA profiles.BMJ open ophthalmology · 2025Article
- Genetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement.Progress in retinal and eye research · 2025Review
- Prediction of mortality in patients with retinoblastoma based on random survival forest: a retrospective cohort analysis using SEER database.Translational cancer research · 2025Article
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- Oncolytic Viruses and Immunotherapy for the Treatment of Uveal Melanoma and Retinoblastoma: The Current Landscape and Novel Advances.Biomedicines · 2025Review
- Case Report: A novel germline donor splicing site mutation ofFrontiers in oncology · 2025Article
- Expression of Wnt signaling proteins LEF1, β-catenin, GSK3β, DVL1, and N-myc varies across retinoblastoma subtypes and pRb phosphorylation status.Scientific reports · 2024Article
- Review
- Mitochondrial ATP Synthesis and Proton Transport Synergistically Mitigate Oligodendrocyte Progenitor Cell Dysfunction Following Transient Middle Cerebral Artery Occlusion via the Pbx3/Dguok/Kif21b Signaling Pathway.International journal of medical sciences · 2024Article
- The significance ofFrontiers in immunology · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This review presents current knowledge on the molecular biology of retinoblastoma (RB). Retinoblastoma is an intraocular tumor with hereditary and sporadic forms. 8,000 new cases of this ocular malignancy of the developing retina are diagnosed each year worldwide. The major gene responsible for retinoblastoma is RB1, and it harbors a large spectrum of pathogenic variants. Tumorigenesis begins with mutations that cause RB1 biallelic inactivation preventing the production of functional pRB proteins. Depending on the type of mutation the penetrance of RB is different. However, in small percent of tumors additional genes may be required, such as MYCN, BCOR and CREBBP. Additionally, epigenetic changes contribute to the progression of retinoblastoma as well. Besides its role in the cell cycle, pRB plays many additional roles, it regulates the nucleosome structure, participates in apoptosis, DNA replication, cellular senescence, differentiation, DNA repair and angiogenesis. Notably, pRB has an important role as a modulator of chromatin remodeling. In recent years high-throughput techniques are becoming essential for credible biomarker identification and patient management improvement. In spite of remarkable advances in retinoblastoma therapy, primarily in high-income countries, our understanding of retinoblastoma and its specific genetics still needs further clarification in order to predict the course of this disease and improve therapy. One such approach is the tumor free DNA that can be obtained from the anterior segment of the eye and be useful in diagnostics and prognostics.
Indexed as
Identifiers
What Socratic 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 Socratic graph.