Article
TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome.
PLoS genetics - 1 Mar 2014
Kumar P Pavan, Franklin Sarah, Emechebe Uchenna, Hu Hao, Moore Barry, Lehman Chris, Yandell Mark, Moon Anne M
Abstract excerpt
TBX3 is a member of the T-box family of transcription factors with critical roles in development, oncogenesis, cell fate, and tissue homeostasis. TBX3 mutations in humans cause complex congenital malformations and Ulnar-mammary syndrome. Previous investigations into TBX3 function focused on its activity as a transcriptional repressor. We used an unbiased proteomic approach to identify TBX3 interacting proteins in...
Topics
- Abnormalities, Multiple
- Alternative Splicing
- Animals
- Breast Diseases
- Gene Expression Regulation, Developmental
- Humans
- Mice
- Mutation
- Nervous System Malformations
- Protein Interaction Maps