Article

Congenital heart disease missense mutations in the TBX5 DNA-binding domain alter thermal stability and DNA-binding affinity

2025-05-19

Abstract excerpt

Missense mutations can alter the biochemical properties of proteins, including stability, structure, and function, potentially contributing to the development of multiple human diseases. Mutations in TBX5 , a transcription factor (TF) necessary for heart development, are among the causes of congenital heart diseases (CHD). However, further research on biophysical and biochemical mechanisms is needed to understand...

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Literature Corpus work: c23abb61-0f05-5e5f-b42a-8f4a7f6a2ece
DOI: 10.1101/2025.05.16.654568

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