ArticleHuman molecular genetics2015
Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 50 citations in OpenAlex.
- Deep Proteomic Analysis With Machine Learning Identifies Aqueous Humor Biomarkers of ADAMTSL4-associated Congenital Ectopia Lentis.Investigative ophthalmology & visual science · 2026Article
- Clinical and Surgical Implications of Genotype-Phenotype Correlations in Congenital Ectopia Lentis: A Real-World Cohort Study.Investigative ophthalmology & visual science · 2026Article
- A novel compound heterozygous mutation inInternational journal of ophthalmology · 2026Article
- A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.Scientific reports · 2025Article
- Evidence of early genomic selection in Holstein Friesian across African and European ecosystems.BMC genomics · 2025Article
- A biometric survey of known and prospective murine models of posterior microphthalmia-nanophthalmia.Experimental eye research · 2025Article
- Review
- Emerging roles for the ADAMTS-like family of matricellular proteins in cardiovascular disease through regulation of the extracellular microenvironment.Molecular biology reports · 2024Review
- A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.Journal of medical case reports · 2023Review
- Single-cell RNA sequencing reveals new subtypes of lens superficial tissue in humans.Cell proliferation · 2023Article
- Single-Cell RNA Sequencing Analysis of the Early Postnatal Mouse Lens Epithelium.Investigative ophthalmology & visual science · 2023Article
- A Genome-Wide Association Study for Susceptibility to Axial Length in Highly Myopic Eyes.Phenomics (Cham, Switzerland) · 2023Article
- Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration.Journal of visualized experiments : JoVE · 2023Article
- A de novo variant in the bovine ADAMTSL4 gene in an Original Braunvieh calf with congenital cataract.Animal genetics · 2022Article
- The phenotypic spectrum ofMolecular vision · 2022Review
- Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.Case reports in genetics · 2022Article
- Structural studies of elastic fibre and microfibrillar proteins.Matrix biology plus · 2021Article
- Zinn's zonule.Progress in retinal and eye research · 2021Review
- Nanophthalmos-Associated MYRF Gene Mutation Causes Ciliary Zonule Defects in Mice.Investigative ophthalmology & visual science · 2021Article
- Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction.Nature communications · 2020Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
Human gene mutations have revealed that a significant number of ADAMTS (a disintegrin-like and metalloproteinase (reprolysin type) with thrombospondin type 1 motifs) proteins are necessary for normal ocular development and eye function. Mutations in human ADAMTSL4, encoding an ADAMTS-like protein which has been implicated in fibrillin microfibril biogenesis, cause ectopia lentis (EL) and EL et pupillae. Here, we report the first ADAMTSL4 mouse model, tvrm267, bearing a nonsense mutation in Adamtsl4. Homozygous Adamtsl4(tvrm267) mice recapitulate the EL phenotype observed in humans, and our analysis strongly suggests that ADAMTSL4 is required for stable anchorage of zonule fibers to the lens capsule. Unexpectedly, homozygous Adamtsl4(tvrm267) mice exhibit focal retinal pigment epithelium (RPE) defects primarily in the inferior eye. RPE dedifferentiation was indicated by reduced pigmentation, altered cellular morphology and a reduction in RPE-specific transcripts. Finally, as with a subset of patients with ADAMTSL4 mutations, increased axial length, relative to age-matched controls, was observed and was associated with the severity of the RPE phenotype. In summary, the Adamtsl4(tvrm267) model provides a valuable tool to further elucidate the molecular basis of zonule formation, the pathophysiology of EL and ADAMTSL4 function in the maintenance of the RPE.
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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.