Article
Identification of a Tbx1/Tbx2/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesis.
Human molecular genetics - 15 Mar 2012
Mesbah Karim, Rana M Sameer, Francou Alexandre, van Duijvenboden Karel, Papaioannou Virginia E, Moorman Antoon F, Kelly Robert G, Christoffels Vincent M
Abstract excerpt
The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder and is characterized by abnormal development of the pharyngeal apparatus and heart. Cardiovascular malformations (CVMs) affecting the outflow tract (OFT) are frequently observed in 22q11.2DS and are among the most commonly occurring heart defects. The gene encoding T-box transcription factor 1 (Tbx1) has been identified as a major...
Topics
- Animals
- Arteries
- Cardiovascular Abnormalities
- Chromosomes, Human, Pair 22
- Embryo, Mammalian
- Fibroblast Growth Factors
- Gene Expression Regulation, Developmental
- Genes, Modifier
- Humans
- Immunoenzyme Techniques