CORDIS Project
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This project investigates Holt Oram syndrome, a genetic condition affecting heart and limb development, by studying the interaction between two key transcription factors, TBX5 and Nkx2-5. The goal is to understand their molecular mechanisms to potentially influence cardiac growth and regeneration.
Holt Oram syndrome (HOS) is a heart and limb syndrome, which manifests itself in 1 of 100000 live births. HOS syndrome is an autosomal-dominant disease, where forelimb and cardiac congenital abnormalities are observed.
The syndrome is connected to mutations in the T-box transcription factor TBX5 gene.
Similar symptoms are observed when mutations in the homeobox transcription factor human Nkx2-5 are present. TBX5 and Nkx2-5 interact with each other and synergistically activate the promoters of th…
EUROPEAN MOLECULAR BIOLOGY LABORATORY
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