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Subreena Simrick, Dorota Szumska, Jennifer R. Gardiner, Kieran Jones, Karun Sagar, Bernice Morrow, Shoumo Bhattacharya and M. Albert Basson Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling Developmental Dynamics 241

Version of Record online: 26 JUN 2012 | DOI: 10.1002/dvdy.23812

Key findings:

  • Sprouty gene deletion results in multiple developmental phenotypes characteristic of 22q11.2 deletion syndrome.

  • Contrary to expectations, reducing the Tbx1 gene dosage significantly exacerbates these phenotypes.

  • Tbx1 haploinsufficiency in the context of Sprouty gene deletion is associated with increased receptor tyrosine kinase (RTK) signaling, suggesting that TBX1 can prevent excessive RTK signaling levels during development.

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