Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients.

@article{Arnold2006TissuespecificRO,
  title={Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients.},
  author={Jelena S. Arnold and Evan M. Braunstein and Takahiro Ohyama and Andrew K Groves and Joe C. Adams and M. Christian Brown and Bernice E Morrow},
  journal={Human molecular genetics},
  year={2006},
  volume={15 10},
  pages={1629-39}
}
Most 22q11.2 deletion syndrome (22q11DS) patients have middle and outer ear anomalies, whereas some have inner ear malformations. Tbx1, a gene hemizygously deleted in 22q11DS patients and required for ear development, is expressed in multiple tissues during embryogenesis. To determine the role of Tbx1 in the first pharyngeal pouch (PPI) in forming outer and middle ears, we tissue-specifically inactivated the gene using Foxg1-Cre. In the conditional mutants, PPI failed to outgrow, preventing the… CONTINUE READING
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