Article: Reports outline gene therapy research from Cleveland Clinic.

According to recent research published in the Journal of Biological Chemistry, "TBX5 is a T-box transcriptional factor required for cardio-genesis and limb development. TBX5 mutations cause Holt-Oram syndrome characterized by congenital heart defects and upper limb deformations."

"Here we establish a novel function for TBX5 in pre-mRNA splicing, and we show that this function is relevant to the pathogenesis of Holt-Oram syndrome, providing a novel pathogenic mechanism for the disease. Proteomics in combination with affinity purification identifies splicing factor SC35 as a candidate TBX5-associating protein. Co-immunoprecipitation and glutathione S-transferase ...

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