ArticleMolecular vision2010
Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity.
Article in Molecular vision, 2010. 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, 42 citations in OpenAlex.
- Concurrent Wagner syndrome and retinopathy of prematurity.American journal of ophthalmology case reports · 2025Article
- Identification of genetic factors underlying severe retinopathy of prematurity in preterm infants.Molecular vision · 2025Article
- Latest Trends in Retinopathy of Prematurity: Research on Risk Factors, Diagnostic Methods and Therapies.International journal of general medicine · 2023Review
- Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.International journal of molecular sciences · 2022Article
- Exploration of Hub Genes in Retinopathy of Prematurity Based on Bioinformatics Analysis of the Oxygen-Induced Retinopathy Model.Journal of ophthalmology · 2022Article
- Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases.Journal of ophthalmology · 2020Article
- Norrie disease gene polymorphism in Indonesian infants with retinopathy of prematurity.BMJ open ophthalmology · 2019Article
- The characteristics of digenic familial exudative vitreoretinopathy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2018Article
- The genetics of retinopathy of prematurity: a model for neovascular retinal disease.Ophthalmology. Retina · 2018Article
- Fzd4 Haploinsufficiency Delays Retinal Revascularization in the Mouse Model of Oxygen Induced Retinopathy.PloS one · 2016Article
- Wnt signaling pathway in retinal vascularization.Eye and brain · 2016Review
- Genomics in the neonatal nursery: Focus on ROP.Seminars in perinatology · 2015Review
- Genetic and Environmental Influences on Retinopathy of Prematurity.Mediators of inflammation · 2015Article
- Risk factors for retinopathy of prematurity: insights from outlier infants.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2014Article
- Genetic variants associated with severe retinopathy of prematurity in extremely low birth weight infants.Investigative ophthalmology & visual science · 2014Article
- Next-generation sequencing analysis of gene regulation in the rat model of retinopathy of prematurity.Documenta ophthalmologica. Advances in ophthalmology · 2013Article
- Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.Molecular vision · 2013Article
- A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.International journal of ophthalmology · 2013Article
- Treatment of retinopathy of prematurity: a review of conventional and promising new therapeutic options.International journal of ophthalmology · 2013Article
- The genetic control of avascular area in mouse oxygen-induced retinopathy.Molecular vision · 2012Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo evaluate the possibility of genetic involvement in retinopathy of prematurity (ROP). Although ROP is most often associated with low birthweight and low gestational age, these factors do not necessarily predict the severity of ROP. The possible involvement of other factors, including genetic variants, has been considered. Familial exudative vitreoretinopathy (FEVR) is a hereditary vitreoretinal disorder with clinical manifestations similar to those of ROP. Three genes involving the wingless/int1 (Wnt) receptor signaling pathway-FZD4 for frizzled 4, LRP5 for low-density lipoprotein receptor-related protein 5, and ND for Norrie disease protein-are associated with the development of FEVR.
methodsIn the present study, 17 Japanese patients with advanced ROP were screened for these three candidate genes of FEVR. Genomic DNA from each patient was subjected to PCR and direct sequencing of the ND, FZD4, and LRP5 genes.
resultsOne patient had a heterozygous mutation in the 5' untranslated region of the ND gene. Another had a leucine insertion in the signal peptide of LRP5. None showed any mutation in FZD4.
conclusionsThese findings suggest that genetic changes in the Wnt receptor signaling pathway associate to the development of advanced ROP.
Indexed as
Identifiers
21151595PMC3000231W1546661868What OpenQuestion holds
Registered trials
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