Molecular analysis of transcriptional pathways in osteochondro-progenitors

点击翻译按钮获取中文摘要

T-box transcription factor, Tbx1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies, and cleft palates. In this project, we found that loss of Tbx1 in mouse results in skeletal abnormalities strikingly similar to those of cleidocranial dysplasia (CCD) in humans, which is an autosomal-dominant skeletal disease caused by mutations in RUNX2.