Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.

@article{Beuschlein2014ConstitutiveAO,
  title={Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.},
  author={Felix Beuschlein and Martin Fassnacht and Guillaume Assi{\'e} and Davide Calebiro and Constantine A Stratakis and Andrea Osswald and Cristina L Ronchi and Thomas S Wieland and Silviu Sbiera and F{\'a}bio Rueda Faucz and Katrin Schaak and Anett Schmittfull and Thomas Schwarzmayr and Olivia Barreau and Delphine Vezzosi and Marthe Rizk-Rabin and Ulrike Zabel and Eva Szarek and Paraskevi Salpea and Antonella Forlino and Annalisa Vetro and Orsetta Zuffardi and Caroline Kisker and Susanne Diener and Thomas Meitinger and Martin J. Lohse and Martin Reincke and J{\'e}r{\^o}me Bertherat and Tim Matthias Strom and Bruno Allolio},
  journal={The New England journal of medicine},
  year={2014},
  volume={370 11},
  pages={
          1019-28
        }
}
BACKGROUND Corticotropin-independent Cushing's syndrome is caused by tumors or hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol-producing adrenal adenomas is not well understood. METHODS We performed exome sequencing of tumor-tissue specimens from 10 patients with cortisol-producing adrenal adenomas and evaluated recurrent mutations in candidate genes in an additional 171 patients with adrenocortical tumors. We also performed genomewide copy-number analysis in 35… CONTINUE READING

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