ArticleThe American journal of pathology2012
Loss of Msx2 function down-regulates the FoxE3 expression and results in anterior segment dysgenesis resembling Peters anomaly.
Article in The American journal of pathology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers.
What it found
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Who cites it
17 citing papers in PubMed, 26 citations in OpenAlex.
- Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.Nature communications · 2026Article
- Unveiling ZNF124 as a novel determinant in neurodegeneration: orchestration of photoreceptor homeostasis through MSX2 transcriptional regulation.Cell death & disease · 2026Article
- Studies of mice with a large deletion of the ARPKD-associatedbioRxiv : the preprint server for biology · 2026Article
- QTL Mapping for Age-Related Eye Pigmentation in the Pink-Eyed Dilution Castaneus Mutant Mouse.Genes · 2022Article
- Lens-specific conditional knockout of Msx2 in mice leads to ocular anterior segment dysgenesis via activation of a calcium signaling pathway.Laboratory investigation; a journal of technical methods and pathology · 2019Article
- Lens-specific deletion of the Msx2 gene increased apoptosis by enhancing the caspase-3/caspase-8 signaling pathway.The Journal of international medical research · 2018Article
- Systems biology of lens development: A paradigm for disease gene discovery in the eye.Experimental eye research · 2017Review
- Lens apoptosis in the Astyanax blind cavefish is not triggered by its small size or defects in morphogenesis.PloS one · 2017Article
- Control of lens development by Lhx2-regulated neuroretinal FGFs.Development (Cambridge, England) · 2016Article
- Anterior segment dysgenesis correlation with epithelial-mesenchymal transition in Smad4 knockout mice.International journal of ophthalmology · 2016Article
- Article
- Deficiency of the RNA binding protein caprin2 causes lens defects and features of Peters anomaly.Developmental dynamics : an official publication of the American Association of Anatomists · 2015Article
- The cellular and molecular mechanisms of vertebrate lens development.Development (Cambridge, England) · 2014Review
- Differential binding of Lef1 and Msx1/2 transcription factors to Dkk1 CNEs correlates with reporter gene expression in vivo.PloS one · 2014Article
- Regulation of mouse lens maturation and gene expression by Krüppel-like factor 4.Experimental eye research · 2013Article
- Ocular surface development and gene expression.Journal of ophthalmology · 2013Article
- Msx2 plays a critical role in lens epithelium cell cycle control.International journal of ophthalmology · 2013Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 7 institutions in 2 countries.
Funding
Abstract
Complex molecular interactions dictate the developmental steps that lead to a mature and functional cornea and lens. Peters anomaly is one subtype of anterior segment dysgenesis especially due to abnormal development of the cornea and lens. MSX2 was recently implicated as a potential gene that is critical for anterior segment development. However, the role of MSX2 within the complex mechanisms of eye development remains elusive. Our present study observed the morphologic changes in conventional Msx2 knockout (KO) mice and found phenotypes consistent with Peters anomaly and microphthalmia seen in humans. The role of Msx2 in cornea and lens development was further investigated using IHC, in situ hybridization, and quantification of proliferative and apoptotic lens cells. Loss of Msx2 down-regulated FoxE3 expression and up-regulated Prox1 and crystallin expression in the lens. The FoxE3 and Prox1 malfunction and precocious Prox1 and crystallin expression contribute to a disturbed lens cell cycle in lens vesicles and eventually to cornea-lentoid adhesions and microphthalmia in Msx2 KO mice. The observed changes in the expression of FoxE3 suggest that Msx2 is an important contributor in controlling transcription of target genes critical for early eye development. These results provide the first direct genetic evidence of the involvement of MSX2 in Peters anomaly and the distinct function of MSX2 in regulating the growth and development of lens vesicles.
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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.