Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.

@article{Smemo2012RegulatoryVI,
  title={Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.},
  author={Scott Smemo and Luciene Cristina Gastalho Campos and Ivan P Moskowitz and Jos{\'e} Eduardo Krieger and Alexandre Carlos Pereira and Marcelo A. Nobrega},
  journal={Human molecular genetics},
  year={2012},
  volume={21 14},
  pages={3255-63}
}
Recent studies have identified the genetic underpinnings of a growing number of diseases through targeted exome sequencing. However, this strategy ignores the large component of the genome that does not code for proteins, but is nonetheless biologically functional. To address the possible involvement of regulatory variation in congenital heart diseases (CHDs), we searched for regulatory mutations impacting the activity of TBX5, a dosage-dependent transcription factor with well-defined roles in… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 43 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 65 references

Similar Papers

Loading similar papers…