Article
Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome.
Developmental cell - 1 Jan 2006
Guris Deborah L, Duester Gregg, Papaioannou Virginia E, Imamoto Akira
Abstract excerpt
22q11 deletion (del22q11) syndrome is characterized genetically by heterozygous deletions within chromosome 22q11 and clinically by a constellation of congenital malformations of the aortic arch, heart, thymus, and parathyroid glands described as DiGeorge syndrome (DGS). Here, we report that compound heterozygosity of mouse homologs of two 22q11 genes, CRKL and TBX1, results in a striking increase in the...
Topics
- Adaptor Proteins, Signal Transducing
- Animals
- Aorta
- Branchial Region
- Chromosomes, Human, Pair 22
- Cytochrome P-450 Enzyme System
- DiGeorge Syndrome
- Disease Models, Animal
- Embryo, Mammalian
- Gene Deletion