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See Latest ArticlesA Gain-of-function TBX20 Mutation Causes Congenital Atrial Septal Defects, Patent Foramen Ovale and Cardiac Valve Defects
Journal of Medical Genetics, 09/22/09
Posch MG et al. – The authors suggest that TBX20–I121M adopts a more fluid tertiary structure leading to enhanced interactions with cofactors and more stable transcriptional complexes on target DNA sequences. The data, combined with that of others, suggest that human ASDII may be related to loss– as well as gain–of–function TBX20 mutations.
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