Generation of the elongated vertebrate body plan from the initially radially symmetrical
embryo requires comprehensive changes to tissue form. These shape changes are …

DNA damage response (DDR) genes orchestrating the network of DNA repair, cell cycle
control, are essential for the rapid proliferation of neural progenitor cells. To date, the …

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 …

In this chapter, we focus on inherited or de novo human mutations associated with autism
spectrum disorder (ASD) or intellectual disability (ID) disorder, which involve members of the …

Neural tube defects (NTDs) are severe malformations of the central nervous system that
affect 1–2 individuals per 2,000 births. Their etiology is complex and involves both genetic …

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 Myelomeningocele (MMC) is the most severe and frequent type of spina bifida.
Its etiology remains poorly understood. The Hedgehog (Hh), Wnt, and planar cell polarity …

The skin is a highly regenerative organ which plays critical roles in protecting the body and
sensing its environment. Consequently, morbidity and mortality associated with skin defects …

In mammals, the skin can form complex global and local patterns to meet diverse functional
requirements in different parts of the body. To date, the fundamental principles that underlie …

Vangl2 forms part of the planar cell polarity signalling pathway and is the gene defective in
the Looptail (Lp) mouse mutant. Two previously described alleles, Lp and Lpm1Jus …