Article
Distinct expression and function of alternatively spliced Tbx5 isoforms in cell growth and differentiation.
Molecular and cellular biology - 1 Jun 2008
Georges Romain, Nemer Georges, Morin Martin, Lefebvre Chantal, Nemer Mona
Abstract excerpt
Mutations in the T-box transcription factor Tbx5 cause Holt-Oram syndrome, an autosomal dominant disease characterized by a wide spectrum of cardiac and upper limb defects with variable expressivity. Tbx5 haploinsufficiency has been suggested to be the underlying mechanism, and experimental models are consistent with a dosage-sensitive requirement for Tbx5 in heart development. Here, we report that Tbx5 levels...
Topics
- Alternative Splicing
- Animals
- Cell Differentiation
- Cell Proliferation
- GATA4 Transcription Factor
- Gene Expression Regulation
- Genotype
- Mice
- Mice, Transgenic
- Models, Biological
- NIH 3T3 Cells