ArticleEuropean journal of human genetics : EJHG2011
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.
Article in European journal of human genetics : EJHG, 2011. 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 18 papers, 1 of them a synthesis that pooled it.
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
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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- PROM1 and PROM2 expression differentially modulates clinical prognosis of cancer: a multiomics analysis.Cancer gene therapy · 2020Pooled it
- Putative Self-Organizing Human Corneal Organoids Recapitulate Human Corneal Architecture and Cellular Diversity.Bioengineering (Basel, Switzerland) · 2026Article
- Amygdala Connectivity Alterations in High Myopia: A Resting-State fMRI Study with SVM-Based Classification.Clinical ophthalmology (Auckland, N.Z.) · 2025Article
- Unveiling the impact of CD133 on cell cycle regulation in radio- and chemo-resistance of cancer stem cells.Frontiers in public health · 2025Review
- Enhanced Learning and Memory in Patients withGenes · 2024Article
- Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.JAMA network open · 2019Article
- Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Article
- CD133 as a regulator of cancer metastasis through the cancer stem cells.The international journal of biochemistry & cell biology · 2019Review
- Article
- Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy.Annals of laboratory medicine · 2017Article
- Article
- Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.PloS one · 2017Article
- Commentary: "prom1 function in development, intestinal inflammation, and intestinal tumorigenesis".Frontiers in oncology · 2015Article
- Identification and validation of PROM1 and CRTC2 mutations in lung cancer patients.Molecular cancer · 2014Article
- CD133 is a modifier of hematopoietic progenitor frequencies but is dispensable for the maintenance of mouse hematopoietic stem cells.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Prominin-1 allows prospective isolation of neural stem cells from the adult murine hippocampus.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Article
- Article
- Levels of circulating endothelial cells and colony-forming units are influenced by age and dyslipidemia.Pediatric research · 2012Article
Corrections and comments
- Erratum issuedKlein, Nigel [added]
Authors and funding
15 authors at 5 institutions in 1 country.
Funding
Abstract
Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa, macular degeneration and cone-rod dystrophy. Because of the putative role of PROM1 in hippocampal neurogenesis, we examined two kindreds with the same R373C PROM1 missense mutation using our established paradigm to study brain structure and function. As the protein encoded by PROM1, known as CD133, is used to identify stem/progenitor cells that can be found in peripheral blood and reflect endothelial reparatory mechanisms, other parameters were subsequently examined that included measures of vascular function, endothelial function and angiogenic capacity. We found that aspects of endothelial function assayed ex vivo were abnormal in patients with the R373C PROM1 mutation, with impaired adhesion capacity and higher levels of cellular damage. We also noted renal infections, haematuria and recurrent miscarriages possibly reflecting consequences of abnormal tubular modelling. Further studies are needed to confirm these findings.
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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.