ArticleScientific reports2016
Col4a1 mutations cause progressive retinal neovascular defects and retinopathy.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 51 citations in OpenAlex.
- A Three-dimensional Analytical Framework for Retinal Microvasculature Reveals Layer-associated Vulnerability in Development and Neovascular Remodeling.bioRxiv : the preprint server for biology · 2026Article
- Neurotrauma induced retinal basement membrane COL4A1 defects are restored by adipose tissue derived mesenchymal stem cell concentrated conditioned medium.Stem cell research & therapy · 2025Article
- Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.Ophthalmology and therapy · 2025Review
- Convergent evolution of complex adaptive traits modulates angiogenesis in high-altitude Andean and Himalayan human populations.Communications biology · 2025Article
- Skeletal pathology in mouse models of Gould syndrome is partially alleviated by genetically reducing TGFβ signaling.Matrix biology : journal of the International Society for Matrix Biology · 2024Article
- Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis.Cells & development · 2024Article
- Adaptive selection at G6PD and disparities in diabetes complications.Nature medicine · 2024Article
- A temporally-restricted pattern of endothelial cell collagen 4 alpha 1 expression during embryonic development determined with a novel knockin Col4a1-P2A-eGFP mouse line.Genesis (New York, N.Y. : 2000) · 2024Article
- Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.American journal of human genetics · 2023Article
- Diagnostic model constructed by five EMT-related genes for renal fibrosis and reflecting the condition of immune-related cells.Frontiers in immunology · 2023Article
- Elevated TGFβ signaling contributes to cerebral small vessel disease in mouse models of Gould syndrome.Matrix biology : journal of the International Society for Matrix Biology · 2023Article
- AMD-Like Substrate Causes Epithelial Mesenchymal Transition in iPSC-Derived Retinal Pigment Epithelial Cells Wild Type but NotInternational journal of molecular sciences · 2021Article
- Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis.International journal of molecular sciences · 2021Article
- Article
- Integrative Computational Approach Revealed Crucial Genes Associated With Different Stages of Diabetic Retinopathy.Frontiers in genetics · 2020Article
- The pericyte microenvironment during vascular development.Microcirculation (New York, N.Y. : 1994) · 2019Review
- Adgrf5 contributes to patterning of the endothelial deep layer in retina.Angiogenesis · 2019Article
- Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.International journal of molecular sciences · 2019Review
- Generation of Functional Human Adipose Tissue in Mice from Primed Progenitor Cells.Tissue engineering. Part A · 2019Article
- COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.American journal of human genetics · 2019Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Mutations in collagen, type IV, alpha 1 (COL4A1), a major component of basement membranes, cause multisystem disorders in humans and mice. In the eye, these include anterior segment dysgenesis, optic nerve hypoplasia and retinal vascular tortuosity. Here we investigate the retinal pathology in mice carrying dominant-negative Col4a1 mutations. To this end, we examined retinas longitudinally in vivo using fluorescein angiography, funduscopy and optical coherence tomography. We assessed retinal function by electroretinography and studied the retinal ultrastructural pathology. Retinal examinations revealed serous chorioretinopathy, retinal hemorrhages, fibrosis or signs of pathogenic angiogenesis with chorioretinal anastomosis in up to approximately 90% of Col4a1 mutant eyes depending on age and the specific mutation. To identify the cell-type responsible for pathogenesis we generated a conditional Col4a1 mutation and determined that primary vascular defects underlie Col4a1-associated retinopathy. We also found focal activation of Müller cells and increased expression of pro-angiogenic factors in retinas from Col4a1(+/Δex41)mice. Together, our findings suggest that patients with COL4A1 and COL4A2 mutations may be at elevated risk of retinal hemorrhages and that retinal examinations may be useful for identifying patients with COL4A1 and COL4A2 mutations who are also at elevated risk of hemorrhagic strokes.
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