Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.

@article{Asimaki2016CharacterizingTM,
  title={Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.},
  author={Angeliki Asimaki and Alexandros Protonotarios and Cynthia A. James and Stephen P Chelko and Crystal Tichnell and Brittney Murray and Adalena A Tsatsopoulou and Aris Anastasakis and Anneline S. J. M. te Riele and Andr{\'e} G. Kl{\'e}ber and Daniel P Judge and Hugh Calkins and Jeffrey E. Saffitz},
  journal={Circulation. Arrhythmia and electrophysiology},
  year={2016},
  volume={9 2},
  pages={e003688}
}
BACKGROUND Analysis of myocardium has revealed mechanistic insights into arrhythmogenic cardiomyopathy but cardiac samples are difficult to obtain from probands and especially from family members. To identify a potential surrogate tissue, we characterized buccal mucosa cells. METHODS AND RESULTS Buccal cells from patients, mutation carriers, and controls were immunostained and analyzed in a blinded fashion. In additional studies, buccal cells were grown in vitro and incubated with SB216763… CONTINUE READING