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Canonical WNT signaling components in vascular development and barrier formation.
Together, these data strongly support a model in which identical or nearly identical canonical WNT signaling mechanisms mediate neural tube and retinal vascularization and maintain the BBB and BRB.
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
This is the first report to the authors' knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a humanHOX gene critical for development of the central nervous system.
The clinical spectrum of homozygous HOXA1 mutations
We describe nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and either the Bosley–Salih–Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Using in vitro biochemical assays and yeast genetics, it is found that TUBB2B-E421K αβ-heterodimers are incorporated into the microtubules network where they alter microtubule dynamics and can reduce kinesin localization.
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development
Two novel de novo heterozygous TUBB3 amino acid substitutions are reported in four patients with both MCD and syndromic CFEOM3, which meld the two previously distinct TubB3‐associated phenotypes, and implicate similar microtubule dysfunction underlying both.