Inactivation of TGF beta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome
Research output: Contribution to journal › Article
Specific inactivation of TGFbeta signaling in neural crest stem cells (NCSCs) results in cardiovascular defects and thymic, parathyroid, and craniofacial anomalies. All these malformations characterize DiGeorge syndrome, the most common microdeletion syndrome in humans. Consistent with a role of TGFbeta in promoting non-neural lineages in NCSCs, mutant neural crest cells migrate into the pharyngeal apparatus but are unable to acquire non-neural cell fates. Moreover, in neural crest cells, TGFbeta signaling is both sufficient and required for phosphorylation of CrkL, a signal adaptor protein implicated in the development of DiGeorge syndrome. Thus, TGFbeta signal modulation in neural crest differentiation might play a crucial role in the etiology of DiGeorge syndrome.
|Research areas and keywords||
Subject classification (UKÄ) – MANDATORY
|Journal||Genes & Development|
|Publication status||Published - 2005|
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Molecular Medicine and Gene Therapy (0131000135), Division of Molecular Medicine and Gene Therapy (013022010), Paediatrics (Lund) (013002000)