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Comment
. 2014 Aug;10(8):447-8.
doi: 10.1038/nrendo.2014.89. Epub 2014 Jun 10.

Genetics: Pinpointing a hotspot in adrenal Cushing syndrome

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Comment

Genetics: Pinpointing a hotspot in adrenal Cushing syndrome

Thomas J Giordano. Nat Rev Endocrinol. 2014 Aug.
No abstract available

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Comment on

  • Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
    Beuschlein F, Fassnacht M, Assié G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B. Beuschlein F, et al. N Engl J Med. 2014 Mar 13;370(11):1019-28. doi: 10.1056/NEJMoa1310359. Epub 2014 Feb 26. N Engl J Med. 2014. PMID: 24571724 Free PMC article.
  • Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome.
    Cao Y, He M, Gao Z, Peng Y, Li Y, Li L, Zhou W, Li X, Zhong X, Lei Y, Su T, Wang H, Jiang Y, Yang L, Wei W, Yang X, Jiang X, Liu L, He J, Ye J, Wei Q, Li Y, Wang W, Wang J, Ning G. Cao Y, et al. Science. 2014 May 23;344(6186):913-7. doi: 10.1126/science.1249480. Epub 2014 Apr 3. Science. 2014. PMID: 24700472
  • Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
    Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kunstman JW, Korah R, Suttorp AC, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, Akerström G, Björklund P, Carling T, Lifton RP. Goh G, et al. Nat Genet. 2014 Jun;46(6):613-7. doi: 10.1038/ng.2956. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747643 Free PMC article.

References

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    1. J Biol Chem. 2003 Mar 21;278(12):10613-8 - PubMed
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