Relationship between neural crest cell specification and rare ocular diseases Journal Articles

abstract

• AbstractDevelopment of the eye is closely associated with neural crest cell migration and specification. Eye development is extremely complex, as it requires the working of a combination of local factors, receptors, inductors, and signaling interactions between tissues such as the optic cup and periocular mesenchyme (POM). The POM is comprised of neural crest‐derived mesenchymal progenitor cells that give rise to numerous important ocular structures including those tissues that form the optic cup and anterior segment of the eye. A number of genes are involved in the migration and specification of the POM such as PITX2, PITX3, FOXC1, FOXE3, PAX6, LMX1B, GPR48, TFAP2A, and TFAP2B. In this review, we will discuss the relevance of these genes in the development of the POM and how mutations and defects result in rare ocular diseases.

authors

• West-Mays, Judith
• Akula, Monica
• Park, Jeong Won
• West‐Mays, Judith A

status

• published 

publication date

• January 2019

has subject area

• 1109 Neurosciences (FoR)
• 1701 Psychology (FoR)
• Anterior Eye Segment (MeSH)
• Eye Abnormalities (MeSH)
• Eye Diseases (MeSH)
• Humans (MeSH)
• Mutation (MeSH)
• Neural Crest (MeSH)
• Neurology & Neurosurgery (Science Metrix)
• Posterior Eye Segment (MeSH)
• Rare Diseases (MeSH)
• Transcription Factors (MeSH)

published in

• Journal of Neuroscience Research  Journal

keywords

• Anterior Eye Segment
• Eye Abnormalities
• Eye Diseases
• Humans
• Mutation
• Neural Crest
• Posterior Eye Segment
• Rare Diseases
• Transcription Factors
• animal models
• anterior segment dysgenesis
• development
• genetics
• neural crest
• ocular disease

Digital Object Identifier (DOI)

• 10.1002/jnr.24245

start page

• 7

end page

• 15

volume

• 97

issue

• 1