Article
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
Cardiovascular research - 1 Oct 2010
Boogerd Cornelis J J, Dooijes Dennis, Ilgun Aho, Mathijssen Inge B, Hordijk Roel, van de Laar Ingrid M B H, Rump Patrick, Veenstra-Knol Hermine E, Moorman Antoon F M, Barnett Phil, Postma Alex V
Abstract excerpt
AIMS: Holt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac malformations. Mutations in T-box transcription factor 5 (TBX5) underlie this syndrome, the majority of which lead to premature stops. In this study, we present our functional analyses of five (novel) missense TBX5 mutations identified in HOS patients, most of whom presented with severe cardiac...
Topics
- Abnormalities, Multiple
- Amino Acid Sequence
- Animals
- Atrial Natriuretic Factor
- Binding Sites
- Case-Control Studies
- Cell Line
- DNA Mutational Analysis
- Electrophoretic Mobility Shift Assay
- Fibroblast Growth Factor 10