Loop-tail (Lp) mice show a very severe neural tube defect (craniorachischisis) caused by
mutations in the Vangl2 gene (D255E, S464N). Mammalian Vangl1 and Vangl2 are …

Abstract The mammalian Vangl1 and Vangl2 genes were discovered a decade ago through
their association with neural tube defects, in particular the presence of Vangl2 mutations in …

Background Harstfield syndrome is the rare and unique association of holoprosencephaly
(HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features …

Cortical development is a very complex process in which any temporal or spatial alterations
can give rise to a wide range of cortical malformations. Among those malformations …

Background Neural tube defects (NTDs) are very common and severe birth defects that are
caused by failure of neural tube closure and that have a complex aetiology. Anencephaly …

Mutations in the gene encoding Ras-associated binding protein 23 (RAB23) cause
Carpenter Syndrome, which is characterized by multiple developmental abnormalities …

Brief ectopic expression of Gcm1 in mouse embryonic tail bud profoundly affects the
development of the nervous system. All mice from 5 independently derived transgenic lines …

The zinc finger transcription factor GLI3 is considered a repressor of vertebrate Hedgehog
(Hh) signaling. In humans, the absence of GLI3 function causes Greig …

The amino acid sequence across the DNA‐binding homeodomain of Gbx2 is highly
conserved across multiple species. In mice, Gbx2 is essential for establishment of the …

Planar cell polarity (PCP) signalling is vital for initiation of mouse neurulation, with
diminished convergent extension (CE) cell movements leading to craniorachischisis, a …