ArticleDisease models & mechanisms2017
A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion of
Article in Disease models & mechanisms, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- Neuroectoderm-derived iris muscle characterization at the single-cell resolution in native human iris and a pluripotent stem cell eye model.Nature communications · 2025Article
- The development and the genetic diseases of the ciliary body.Cell insight · 2024Review
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- Aniridia-related keratopathy relevant cell signaling pathways in human fetal corneas.Histochemistry and cell biology · 2022Article
- Pigment Epithelia of the Eye: Cell-Type Conversion in Regeneration and Disease.Life (Basel, Switzerland) · 2022Review
- Article
- NOTCH Signaling Controls Ciliary Body Morphogenesis and Secretion by Directly Regulating Nectin Protein Expression.Cell reports · 2021Article
- The genetic architecture of aniridia and Gillespie syndrome.Human genetics · 2019Review
- Reduced mTORC1-signalling in retinal progenitor cells leads to visual pathway dysfunction.Biology open · 2019Article
- Ocular Surface Disease in Rodents (Guinea Pigs, Mice, Rats, Chinchillas).The veterinary clinics of North America. Exotic animal practice · 2019Review
- Unilateral cataract associated with eyelid ash-leaf macule in tuberous sclerosis complex.BMJ case reports · 2018Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Development of the cornea, lens, ciliary body and iris within the anterior segment of the eye involves coordinated interaction between cells originating from the ciliary margin of the optic cup, the overlying periocular mesenchyme and the lens epithelium. Anterior segment dysgenesis (ASD) encompasses a spectrum of developmental syndromes that affect these anterior segment tissues. ASD conditions arise as a result of dominantly inherited genetic mutations and result in both ocular-specific and systemic forms of dysgenesis that are best exemplified by aniridia and Axenfeld-Rieger syndrome, respectively. Extensive clinical overlap in disease presentation amongst ASD syndromes creates challenges for correct diagnosis and classification. The use of animal models has therefore proved to be a robust approach for unravelling this complex genotypic and phenotypic heterogeneity. However, despite these successes, it is clear that additional genes that underlie several ASD syndromes remain unidentified. Here, we report the characterisation of a novel mouse model of ASD. Conditional deletion of
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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.