Publications by authors named "Victoria A Scanlon"
Article Synopsis
- Twist transcription factors are crucial for mesoderm development and mutations in the TWIST1 and TWIST2 genes have been linked to various craniofacial disorders in humans.
- A new condition called Sweeney-Cox syndrome is associated with specific mutations in TWIST1 that influence frontonasal dysplasia and other malformations, marking the first report of substitutions affecting the Glu117 codon.
- The study used C. elegans to analyze the effects of different TWIST mutations and found that they lead to varying degrees of severity in gene expression and cellular differences, supporting a dominant-negative mechanism in disease manifestation.
