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Page 1
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.
ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.
Assié G, Libé R, Espiard S, Rizk-Rabin M, Guimier A, Luscap W, Barreau O, Lefèvre L, Sibony M, Guignat L, Rodriguez S, Perlemoine K, René-Corail F, Letourneur F, Trabulsi B, Poussier A, Chabbert-Buffet N, Borson-Chazot F, Groussin L, Bertagna X, Stratakis CA, Ragazzon B, Bertherat J. Assié G, et al. N Engl J Med. 2013 Nov 28;369(22):2105-14. doi: 10.1056/NEJMoa1304603. N Engl J Med. 2013. PMID: 24283224 Free PMC article.
Activating PRKACB somatic mutation in cortisol-producing adenomas.
Espiard S, Knape MJ, Bathon K, Assié G, Rizk-Rabin M, Faillot S, Luscap-Rondof W, Abid D, Guignat L, Calebiro D, Herberg FW, Stratakis CA, Bertherat J. Espiard S, et al. Among authors: rizk rabin m. JCI Insight. 2018 Apr 19;3(8):e98296. doi: 10.1172/jci.insight.98296. eCollection 2018 Apr 19. JCI Insight. 2018. PMID: 29669941 Free PMC article.
PKA regulatory subunit 1A inactivating mutation induces serotonin signaling in primary pigmented nodular adrenal disease.
Bram Z, Louiset E, Ragazzon B, Renouf S, Wils J, Duparc C, Boutelet I, Rizk-Rabin M, Libé R, Young J, Carson D, Vantyghem MC, Szarek E, Martinez A, Stratakis CA, Bertherat J, Lefebvre H. Bram Z, et al. Among authors: rizk rabin m. JCI Insight. 2016 Sep 22;1(15):e87958. doi: 10.1172/jci.insight.87958. JCI Insight. 2016. PMID: 27699247 Free PMC article.
Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.
Vezzosi D, Libé R, Baudry C, Rizk-Rabin M, Horvath A, Levy I, René-Corail F, Ragazzon B, Stratakis CA, Vandecasteele G, Bertherat J. Vezzosi D, et al. J Clin Endocrinol Metab. 2012 Nov;97(11):E2063-9. doi: 10.1210/jc.2012-2275. Epub 2012 Sep 20. J Clin Endocrinol Metab. 2012. PMID: 22996146 Free PMC article.
Protein kinase A alterations in endocrine tumors.
Yu B, Ragazzon B, Rizk-Rabin M, Bertherat J. Yu B, et al. Horm Metab Res. 2012 Sep;44(10):741-8. doi: 10.1055/s-0032-1316292. Epub 2012 Jun 29. Horm Metab Res. 2012. PMID: 22752956 Review.
38 results