Although human epidemiological and genetic studies are essential to elucidate the
aetiology of normal and aberrant ocular development, animal models have provided us with …

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal
angiogenesis. Cases can be autosomal dominant, autosomal recessive, or X-linked. FEVR …

Canonical WNT signaling is required for proper vascularization of the CNS during
embryonic development. Here, we used mice with targeted mutations in genes encoding …

Familial exudative vitreoretinopathy (FEVR) is a severe retinal vascular disease that causes
blindness. FEVR has been linked to mutations in several genes associated with inactivation …

The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

Familial exudative vitreoretinopathy (FEVR) is a human disease characterized by defective
retinal angiogenesis and associated complications that can result in vision loss. Defective …

Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …

Importance Retinal detachment with avascularity of the peripheral retina, typically
associated with familial exudative vitreoretinopathy (FEVR), can result from mutations …

Proper functioning of the neural retina relies on the unique retinal environment regulated by
the blood–retinal barrier (BRB), which restricts the passage of solutes, fluids, and toxic …

PRDM9 binding localizes almost all meiotic recombination sites in humans and mice.
However, most PRDM9-bound loci do not become recombination hotspots. To explore …