K. Morrison

TL;DR: The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome, also known as hereditary sacral agenesis (HSA) as discussed by the authors.

TL;DR: Using TDT, evidence for an association between an allele at the T gene and liability to NTD in the embryo is found and the possibility of complex genetic interactions was explored.

TL;DR: It is proposed that Cdx-2 plays an important role in the intestine-specific expression of CA1, an abundant enzyme in colon epithelia that is vital for NaCl resorption, alkalinization of gut contents, and absorption of short-chain fatty acids.

TL;DR: A genetic analysis of the human homologue (T) of the mouse T (Brachyury) gene is described; human T was recently cloned in the laboratory and a common polymorphism of human T by single strand conformation polymorphism (SSCP) is identified and used in mapping studies and to re-investigate the idea that human T is involved in susceptibility to the multifactorial, neural tube defect, spina bifida.

TL;DR: Results show that Cdx2 exerts a positive regulatory effect by binding to a motif 87 bp upstream of the CA1 TATA box; this motif appears to act as an enhancer since gene activation is independent of its orientation.