ArticleDisease models & mechanisms2019
Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome.
Article in Disease models & mechanisms, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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.
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Who cites it
36 citing papers in PubMed, 66 citations in OpenAlex.
- Review
- Charting the Phenotypic Landscape of FBN1 Variants in Marfan Syndrome With Ectopia Lentis Through Extreme Phenotype Sampling.Investigative ophthalmology & visual science · 2026Article
- Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.Journal of translational medicine · 2025Article
- Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants.Molecular syndromology · 2025Article
- A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.Scientific reports · 2025Article
- Marfan syndrome variation of the POGLUT2 and POGLUT3 consensus sequence can produce aberrant fibrillin-1 O-glucosylation.The Journal of biological chemistry · 2025Article
- Vitreous Fibrillar Structure and Interfibrillar Composition in Adult Mice.Investigative ophthalmology & visual science · 2025Article
- Unanswered questions regarding the pathogenesis of late onset posterior capsular opacification.Frontiers in ophthalmology · 2025Review
- Review
- Marfan syndrome in a Ghanaian male: The diagnostic challenges.Clinical case reports · 2024Article
- Genetic mutation and aqueous humor metabolites alterations in a family with Marfan syndrome.Heliyon · 2024Article
- Genetic models of fibrillinopathies.Genetics · 2024Review
- Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families.Investigative ophthalmology & visual science · 2024Article
- The effect of fibre cell remodelling on the power and optical quality of the lens.Journal of the Royal Society, Interface · 2023Article
- A Novel Mutation in theInternational journal of molecular sciences · 2023Article
- The ciliary zonules provide a pathway for immune cells to populate the avascular lens during eye development.Experimental biology and medicine (Maywood, N.J.) · 2022Article
- Article
- Optic neuropathy associated with TGFβ dysregulation in mice with a glaucoma-causative mutation of ADAMTS10.Matrix biology : journal of the International Society for Matrix Biology · 2022Article
- Zebrafish: An In Vivo Screening Model to Study Ocular Phenotypes.Translational vision science & technology · 2022Article
- The Multiple Functions of Fibrillin-1 Microfibrils in Organismal Physiology.International journal of molecular sciences · 2022Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Fibrillin is an evolutionarily ancient protein that lends elasticity and resiliency to a variety of tissues. In humans, mutations in fibrillin-1 cause Marfan and related syndromes, conditions in which the eye is often severely affected. To gain insights into the ocular sequelae of Marfan syndrome, we targeted
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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.