Article
Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.
Developmental dynamics : an official publication of the American Association of Anatomists - 1 Aug 2012
Simrick Subreena, Szumska Dorota, Gardiner Jennifer R, Jones Kieran, Sagar Karun, Morrow Bernice, Bhattacharya Shoumo, Basson M Albert
Abstract excerpt
BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans, characterized by cardiovascular defects such as interrupted aortic arch, outflow tract defects, thymus and parathyroid hypo- or aplasia, and cleft palate. Heterozygosity of Tbx1, the mouse homolog of the candidate TBX1 gene, results in mild defects dependent on genetic background, whereas complete inactivation...
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