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

The trabecular meshwork regulates aqueous humour outflow from the anterior chamber of
the eye. It does this by establishing a tunable outflow resistance, defined by the interplay …

Development of the anterior segment of the eye requires reciprocal sequential interactions
between the arising tissues, facilitated by numerous genetic factors. Disruption of any of …

Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder
characterized by congenital nephrotic syndrome, ocular and neurologic abnormalities, but …

Although a number of genetic causes have been identified, many ASD conditions are still
awaiting genetic elucidation. The majority of characterized ASD genes encode transcription …

The glomerular basement membrane (GBM) is a specialized structure with a significant role
in maintaining the glomerular filtration barrier. This GBM is formed from the fusion of two …

Pathologies of retinal blood vessels are among the major causes of blindness worldwide. A
key cell type that regulates retinal vascular development is the astrocyte. Generated …

Basement membranes (BMs) are extracellular matrix sheets comprising the laminins, type-IV
collagens, nidogens, and the heparan sulfate proteoglycans, perlecan, collagen XVIII, and …

Collagen type IV alpha 1 and 2 (COL4A1 and COL4A2) are present in nearly all basement
membranes. COL4A1 and COL4A2 mutations are pleiotropic, affecting multiple organ …

The laminins (LM) are a family of basement membranes glycoproteins with essential
structural roles in supporting epithelia, endothelia, nerves and muscle adhesion, and …