Article
Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.
Development (Cambridge, England) - 1 Mar 2006
Arnold Jelena S, Werling Uwe, Braunstein Evan M, Liao Jun, Nowotschin Sonja, Edelmann Winfried, Hebert Jean M, Morrow Bernice E
Abstract excerpt
The 22q11 deletion (22q11DS; velo-cardio-facial syndrome/DiGeorge syndrome) is characterized by defects in the derivatives of the pharyngeal apparatus. Mouse genetic studies have identified Tbx1, a member of the T-box family of transcription factors, as being responsible for the physical malformations of the syndrome. Mice heterozygous for a null mutation in Tbx1 have mild anomalies, whereas homozygous Tbx1...
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